db	id	synonym	preferred
DECIPHER	15	NF1-microdeletion syndrome	TRUE
DECIPHER	45	Xq28 (MECP2) duplication	TRUE
DECIPHER	65	ATR-16 syndrome	TRUE
OMIM	100050	AARSKOG SYNDROME, AUTOSOMAL DOMINANT	TRUE
OMIM	100650	ALDEHYDE DEHYDROGENASE 2 FAMILY	TRUE
OMIM	101800	ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1	TRUE
OMIM	101800	ADOHR	FALSE
OMIM	102500	HAJDU-CHENEY SYNDROME; HJCYS	TRUE
OMIM	102500	ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE	FALSE
OMIM	102500	CHENEY SYNDROME	FALSE
OMIM	102500	ARTHRODENTOOSTEODYSPLASIA	FALSE
OMIM	102500	SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS	FALSE
OMIM	102510	ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF	TRUE
OMIM	102700	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	TRUE
OMIM	102800	ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO	TRUE
OMIM	103050	ADENYLOSUCCINASE DEFICIENCY	TRUE
OMIM	103420	ALACRIMA, CONGENITAL	TRUE
OMIM	103470	ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS	TRUE
OMIM	103470	WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE;WS2-OA	FALSE
OMIM	103900	GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM	TRUE
OMIM	104000	ALOPECIA AREATA 1	TRUE
OMIM	104110	ALOPECIA, FAMILIAL FOCAL	TRUE
OMIM	104200	ALPORT SYNDROME, AUTOSOMAL DOMINANT	TRUE
OMIM	105120	AMYLOIDOSIS, FINNISH TYPE	TRUE
OMIM	105250	AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1; PLCA1	TRUE
OMIM	105830	ANGELMAN SYNDROME	TRUE
OMIM	106260	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE	TRUE
OMIM	107250	ANTERIOR SEGMENT DYSGENESIS 1; ASGD1	TRUE
OMIM	107320	ANTIPHOSPHOLIPID SYNDROME, FAMILIAL	TRUE
OMIM	107480	TOWNES-BROCKS SYNDROME 1; TBS1	TRUE
OMIM	107550	AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA	TRUE
OMIM	107680	APOLIPOPROTEIN A-I; APOA1	TRUE
OMIM	108050	ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS	TRUE
OMIM	108120	ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A	TRUE
OMIM	108145	ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5	TRUE
OMIM	108145	ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES	FALSE
OMIM	108145	OCULOMELIC AMYOPLASIA	FALSE
OMIM	108145	ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB	FALSE
OMIM	108320	ARTICHOKE, MODIFICATION OF TASTE BY	TRUE
OMIM	108650	SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7	TRUE
OMIM	108650	SPASTIC ATAXIA WITH CONGENITAL MIOSIS	FALSE
OMIM	108650	MIOSIS, CONGENITAL, WITH SPASTIC ATAXIA	FALSE
OMIM	108721	ATELOSTEOGENESIS, TYPE III; AOIII	TRUE
OMIM	108721	AO3	FALSE
OMIM	109120	AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES	TRUE
OMIM	109150	MACHADO-JOSEPH DISEASE; MJD	TRUE
OMIM	109160	AZOTEMIA, FAMILIAL	TRUE
OMIM	109200	ALOPECIA, ANDROGENETIC, 1	TRUE
OMIM	109400	BASAL CELL NEVUS SYNDROME	TRUE
OMIM	109650	BEHCET SYNDROME	TRUE
OMIM	109820	BLADDER DIVERTICULUM	TRUE
OMIM	110100	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS	TRUE
OMIM	112450	BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION	TRUE
OMIM	112450	CHRISTIAN BRACHYDACTYLY	FALSE
OMIM	112500	BRACHYDACTYLY, TYPE A1; BDA1	TRUE
OMIM	112500	FARABEE-TYPE BRACHYDACTYLY	FALSE
OMIM	112910	BRACHYDACTYLY, TYPE A6	TRUE
OMIM	113300	BRACHYDACTYLY, TYPE E	TRUE
OMIM	113450	BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME	TRUE
OMIM	113620	BRANCHIOOCULOFACIAL SYNDROME	TRUE
OMIM	113650	BRANCHIOOTORENAL SYNDROME 1	TRUE
OMIM	113670	BREAST, UNILATERAL GIANT	TRUE
OMIM	114150	CAMPTOBRACHYDACTYLY	TRUE
OMIM	115150	CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1	TRUE
OMIM	115250	COLLAGENOMA, FAMILIAL CUTANEOUS	TRUE
OMIM	115310	PARAGANGLIOMAS 4	TRUE
OMIM	115645	CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION	TRUE
OMIM	115650	CATARACT, ANTERIOR POLAR, 1	TRUE
OMIM	116300	CATARACT 30, MULTIPLE TYPES	TRUE
OMIM	116600	CATARACT, POSTERIOR POLAR, 1 CTPA CATARACT, CONGENITAL TOTAL, INCLUDED	TRUE
OMIM	116800	CATARACT, LAMELLAR	TRUE
OMIM	116800	CATARACT, ZONULAR	FALSE
OMIM	116800	PERINUCLEAR CATARACTCATARACT, MARNER TYPE, INCLUDED; CAM, INCLUDED	FALSE
OMIM	116800	CTM, INCLUDED	FALSE
OMIM	117300	DEMENTIA, FAMILIAL DANISH	TRUE
OMIM	118100	KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1	TRUE
OMIM	118200	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B	TRUE
OMIM	118220	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A	TRUE
OMIM	118230	CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE	TRUE
OMIM	118301	CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM	TRUE
OMIM	118430	CHLORPROPAMIDE-ALCOHOL FLUSHING; CPAF	TRUE
OMIM	118450	ALAGILLE SYNDROME 1; ALGS1	TRUE
OMIM	118800	PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1	TRUE
OMIM	118800	PAROXYSMAL DYSTONIC CHOREOATHETOSIS; PDC	FALSE
OMIM	118800	CHOREOATHETOSIS, FAMILIAL PAROXYSMAL; FPD1	FALSE
OMIM	118800	MOUNT-REBACK SYNDROME	FALSE
OMIM	118800	CHOREOATHETOSIS, NONKINESIGENIC	FALSE
OMIM	118800	DYSTONIA 8; DYT8	FALSE
OMIM	118865	CHOROIDAL OSTEOMA, BILATERAL	TRUE
OMIM	119300	VAN DER WOUDE SYNDROME	TRUE
OMIM	119500	POPLITEAL PTERYGIUM SYNDROME	TRUE
OMIM	119600	CLEIDOCRANIAL DYSPLASIA; CCD	TRUE
OMIM	120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	TRUE
OMIM	120300	COLOBOMA OF MACULA	TRUE
OMIM	120330	PAPILLORENAL SYNDROME	TRUE
OMIM	121300	COPROPORPHYRIA, HEREDITARY; HCP	TRUE
OMIM	121300	COPROPORPHYRINOGEN OXIDASE DEFICIENCY	FALSE
OMIM	121300	CPOX DEFICIENCY	FALSE
OMIM	121300	CPO DEFICIENCY	FALSE
OMIM	121300	CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED	FALSE
OMIM	121390	CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS	TRUE
OMIM	122000	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1	TRUE
OMIM	122200	CORNEAL DYSTROPHY, LATTICE TYPE I	TRUE
OMIM	122470	CORNELIA DE LANGE SYNDROME 1	TRUE
OMIM	122580	COSTOCORACOID LIGAMENT, CONGENITALLY SHORT	TRUE
OMIM	122600	SPONDYLOCOSTAL DYSOSTOSIS 5	TRUE
OMIM	122860	CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD	TRUE
OMIM	123000	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	TRUE
OMIM	123150	JACKSON-WEISS SYNDROME; JWS	TRUE
OMIM	123150	CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES	FALSE
OMIM	123450	CRI-DU-CHAT SYNDROME	TRUE
OMIM	123570	CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED; CRYPTOP	TRUE
OMIM	125250	OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY	TRUE
OMIM	125400	DENTIN DYSPLASIA, TYPE I; DTDP1	TRUE
OMIM	125400	DENTIN DYSPLASIA, SHIELDS TYPE I	FALSE
OMIM	125400	ROOTLESS TEETH	FALSE
OMIM	125400	RADICULAR DENTIN DYSPLASIADENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH,INCLUDED	FALSE
OMIM	125500	DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III	TRUE
OMIM	125595	DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR	TRUE
OMIM	125630	DERMODISTORTIVE URTICARIA	TRUE
OMIM	125800	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL	TRUE
OMIM	126200	MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO	TRUE
OMIM	126800	DUANE RETRACTION SYNDROME 1	TRUE
OMIM	127000	KENNY-CAFFEY SYNDROME, TYPE 2; KCS2	TRUE
OMIM	127300	LERI-WEILL DYSCHONDROSTEOSIS	TRUE
OMIM	129400	RAPP-HODGKIN SYNDROME; RHS	TRUE
OMIM	129400	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATEOROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED	FALSE
OMIM	129400	CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED	FALSE
OMIM	129900	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1	TRUE
OMIM	129900	EEC	FALSE
OMIM	129900	EEC SYNDROME 1	FALSE
OMIM	130000	EHLERS-DANLOS SYNDROME, TYPE I	TRUE
OMIM	130010	EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2; EDSCL2	TRUE
OMIM	130050	EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC	TRUE
OMIM	130090	EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED	TRUE
OMIM	130650	BECKWITH-WIEDEMANN SYNDROME	TRUE
OMIM	133100	ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1	TRUE
OMIM	133100	POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP	FALSE
OMIM	133100	ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN	FALSE
OMIM	133540	COCKAYNE SYNDROME, TYPE B; CSB	TRUE
OMIM	133540	CKN2	FALSE
OMIM	133700	EXOSTOSES, MULTIPLE, TYPE I	TRUE
OMIM	133701	EXOSTOSES, MULTIPLE, TYPE II	TRUE
OMIM	133780	EXUDATIVE VITREORETINOPATHY 1; EVR1	TRUE
OMIM	133780	EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT	FALSE
OMIM	133780	FEVR, AUTOSOMAL DOMINANT	FALSE
OMIM	133780	CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED	FALSE
OMIM	134000	FACIAL HYPERTRICHOSIS	TRUE
OMIM	134540	FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF	TRUE
OMIM	134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT	TRUE
OMIM	134610	FMF, AUTOSOMAL DOMINANT	FALSE
OMIM	135150	BIRT-HOGG-DUBE SYNDROME	TRUE
OMIM	135500	ZIMMERMANN-LABAND SYNDROME 1	TRUE
OMIM	135700	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1	TRUE
OMIM	135900	COFFIN-SIRIS SYNDROME 1; CSS1	TRUE
OMIM	136480	FOURTH CRANIAL NERVE PALSY, FAMILIAL CONGENITAL	TRUE
OMIM	136680	FRASIER SYNDROME	TRUE
OMIM	137575	GIGANTIFORM CEMENTOMA, FAMILIAL	TRUE
OMIM	137940	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS	TRUE
OMIM	138770	GMS SYNDROME	TRUE
OMIM	138770	GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME	FALSE
OMIM	138800	GOITER, MULTINODULAR 1	TRUE
OMIM	139500	HAIRY EARS	TRUE
OMIM	140000	HAND-FOOT-GENITAL SYNDROME; HFG	TRUE
OMIM	140700	HEINZ BODY ANEMIAS	TRUE
OMIM	141300	HEMIFACIAL ATROPHY, PROGRESSIVE; HFA	TRUE
OMIM	141500	MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1	TRUE
OMIM	141500	FHM	FALSE
OMIM	141500	MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED	FALSE
OMIM	141500	MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED	FALSE
OMIM	141700	HEMOLYTIC POIKILOCYTIC ANEMIA DUE TO REDUCED ANKYRIN BINDING SITES	TRUE
OMIM	141750	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED	TRUE
OMIM	142625	HIRSUTISM, SKELETAL DYSPLASIA, AND MENTAL RETARDATION	TRUE
OMIM	143850	ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE	TRUE
OMIM	143890	HYPERCHOLESTEROLEMIA, FAMILIAL	TRUE
OMIM	144010	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B	TRUE
OMIM	144300	HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS	TRUE
OMIM	144600	HYPERLIPOPROTEINEMIA, TYPE IV	TRUE
OMIM	144750	ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT	TRUE
OMIM	144755	HYPEROSTOSIS CRANIALIS INTERNA; HCIN	TRUE
OMIM	145001	HYPERPARATHYROIDISM 2	TRUE
OMIM	145260	PSEUDOHYPOALDOSTERONISM, TYPE II	TRUE
OMIM	145410	OPITZ GBBB SYNDROME, TYPE II; GBBB2	TRUE
OMIM	145750	HYPERTRIGLYCERIDEMIA, FAMILIAL	TRUE
OMIM	145900	HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS	TRUE
OMIM	146255	HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE	TRUE
OMIM	146500	MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1	TRUE
OMIM	146840	IMMUNODEFICIENCY WITH DEFECTIVE LEUKOCYTE AND LYMPHOCYTE FUNCTION AND WITH RESPONSE TO HISTAMINE-1 ANTAGONIST	TRUE
OMIM	147300	INCISORS, LONG UPPER CENTRAL	TRUE
OMIM	148210	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT	TRUE
OMIM	148210	KID SYNDROME, AUTOSOMAL DOMINANT	FALSE
OMIM	148730	KERATOSIS, FOCAL PALMOPLANTAR AND GINGIVAL	TRUE
OMIM	148820	WAARDENBURG SYNDROME, TYPE 3; WS3	TRUE
OMIM	148820	WAARDENBURG SYNDROME WITH UPPER LIMB ANOMALIES	FALSE
OMIM	148820	WAARDENBURG SYNDROME, TYPE III	FALSE
OMIM	148820	KLEIN-WAARDENBURG SYNDROME	FALSE
OMIM	149700	LACRIMAL DUCT DEFECT	TRUE
OMIM	149730	LACRIMOAURICULODENTODIGITAL SYNDROME; LADD	TRUE
OMIM	150230	TRICHORHINOPHALANGEAL SYNDROME, TYPE II	TRUE
OMIM	150250	LARSEN SYNDROME; LRS	TRUE
OMIM	150590	LEG ULCERS, FAMILIAL, OF JUVENILE ONSET	TRUE
OMIM	150699	LEIOMYOMA, UTERINE; UL	TRUE
OMIM	150800	HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC	TRUE
OMIM	150800	MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENALCELL CARCINOMA; MCUL1	FALSE
OMIM	150800	LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; LRCC	FALSE
OMIM	150800	LEIOMYOMA, MULTIPLE CUTANEOUS; MCL	FALSE
OMIM	151050	LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM	TRUE
OMIM	151100	LEOPARD SYNDROME 1	TRUE
OMIM	151100	LENTIGINOSIS, CARDIOMYOPATHIC	FALSE
OMIM	151100	MULTIPLE LENTIGINES SYNDROME	FALSE
OMIM	151200	CHROMOSOME 8q22.1 DUPLICATION SYNDROME	TRUE
OMIM	151380	LEUKEMIA, ACUTE MONOCYTIC	TRUE
OMIM	151400	LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL	TRUE
OMIM	151660	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	TRUE
OMIM	153470	MACROCEPHALY, BENIGN FAMILIAL	TRUE
OMIM	153480	BANNAYAN-RILEY-RUVALCABA SYNDROME	TRUE
OMIM	153550	CHROMOSOME 5Q DELETION SYNDROME	TRUE
OMIM	153640	FECHTNER SYNDROME	TRUE
OMIM	154400	ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1	TRUE
OMIM	154500	TREACHER COLLINS-FRANCESCHETTI SYNDROME	TRUE
OMIM	154780	MARSHALL SYNDROME; MRSHS	TRUE
OMIM	155100	MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS	TRUE
OMIM	155310	VISCERAL MYOPATHY; VSCM	TRUE
OMIM	155600	MELANOMA, CUTANEOUS MALIGNANT	TRUE
OMIM	156200	MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1CHROMOSOME 2q23.1 DELETION SYNDROME, INCLUDED	TRUE
OMIM	156550	KNIEST DYSPLASIA	TRUE
OMIM	156580	MICROCEPHALY, AUTOSOMAL DOMINANT	TRUE
OMIM	157170	HOLOPROSENCEPHALY 2; HPE2	TRUE
OMIM	157300	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1	TRUE
OMIM	157900	MOEBIUS SYNDROME; MBS	TRUE
OMIM	158310	MUCOEPITHELIAL DYSPLASIA, HEREDITARY	TRUE
OMIM	158650	MUSCULAR ATROPHY, MALIGNANT NEUROGENIC	TRUE
OMIM	159550	MYELOCEREBELLAR DISORDER	TRUE
OMIM	159580	MYELOPATHY, HTLV-1-ASSOCIATED	TRUE
OMIM	159900	DYSTONIA 11, MYOCLONIC	TRUE
OMIM	160900	MYOTONIC DYSTROPHY 1	TRUE
OMIM	161200	NAIL-PATELLA SYNDROME	TRUE
OMIM	161400	NARCOLEPSY 1; NRCLP1	TRUE
OMIM	161700	NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT	TRUE
OMIM	161950	IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1; IGAN1	TRUE
OMIM	162100	AMYOTROPHY, HEREDITARY NEURALGIC; HNA	TRUE
OMIM	162100	NEURITIS WITH BRACHIAL PREDILECTION; NAPB	FALSE
OMIM	162100	BRACHIAL PLEXUS NEUROPATHY, HEREDITARY	FALSE
OMIM	162100	AMYOTROPHY, HEREDITARY NEURALGIC, WITH PREDILECTION FOR BRACHIAL PLEXUS	FALSE
OMIM	162200	NEUROFIBROMATOSIS, TYPE I	TRUE
OMIM	162240	NEUROFIBROMATOSIS-PHEOCHROMOCYTOMA-DUODENAL CARCINOID SYNDROME	TRUE
OMIM	162350	CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B	TRUE
OMIM	162400	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A	TRUE
OMIM	162820	NEUTROPHIL CHEMOTACTIC RESPONSE	TRUE
OMIM	162900	NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC	TRUE
OMIM	163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM	TRUE
OMIM	163400	NIEVERGELT SYNDROME	TRUE
OMIM	163950	NOONAN SYNDROME 1; NS1	TRUE
OMIM	163950	NOONAN SYNDROME	FALSE
OMIM	163950	MALE TURNER SYNDROME	FALSE
OMIM	163950	FEMALE PSEUDO-TURNER SYNDROME	FALSE
OMIM	163950	TURNER PHENOTYPE WITH NORMAL KARYOTYPEPTERYGIUM COLLI SYNDROME, INCLUDED	FALSE
OMIM	164180	OCULOCEREBROCUTANEOUS SYNDROME	TRUE
OMIM	164280	FEINGOLD SYNDROME 1; FGLDS1	TRUE
OMIM	164330	ODONTOMA-DYSPHAGIA SYNDROME	TRUE
OMIM	164400	SPINOCEREBELLAR ATAXIA 1	TRUE
OMIM	164500	SPINOCEREBELLAR ATAXIA 7 OPCA III OPCA WITH RETINAL DEGENERATION OPCA WITH MACULAR DEGENERATION AND EXTERNAL OPHTHALMOPLEGIA AUTOSOMAL DOMINANT CEREBELLAR ATAXIA, TYPE II ADCA, TYPE II	TRUE
OMIM	165500	OPTIC ATROPHY 1; OPA1	TRUE
OMIM	165600	ORBITAL MARGIN, HYPOPLASIA OF	TRUE
OMIM	166210	OSTEOGENESIS IMPERFECTA, TYPE IIA	TRUE
OMIM	166250	OSTEOGLOPHONIC DYSPLASIA; OGD	TRUE
OMIM	166250	OSTEOGLOPHONIC DWARFISM	FALSE
OMIM	166300	MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO	TRUE
OMIM	166400	OSTEOMAS OF MANDIBLE	TRUE
OMIM	166705	OSTEOPOIKILOSIS AND DACRYOCYSTITIS	TRUE
OMIM	166780	OTOFACIOCERVICAL SYNDROME	TRUE
OMIM	167730	NASOPALPEBRAL LIPOMA-COLOBOMA SYNDROME; NPLCS	TRUE
OMIM	167800	PANCREATITIS, HEREDITARY	TRUE
OMIM	168000	PARAGANGLIOMAS 1	TRUE
OMIM	170650	PERIODONTITIS, AGGRESSIVE, 1	TRUE
OMIM	171000	PEYRONIE DISEASE	TRUE
OMIM	171300	PHEOCHROMOCYTOMA	TRUE
OMIM	171400	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A	TRUE
OMIM	171420	PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME	TRUE
OMIM	171450	PHLEBECTASIA OF LIPS	TRUE
OMIM	172500	PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRALDYSFUNCTION	TRUE
OMIM	172500	HERRMANN SYNDROME	FALSE
OMIM	172700	PICK DISEASE OF BRAIN	TRUE
OMIM	172700	LOBAR ATROPHY OF BRAIN	FALSE
OMIM	172700	DEMENTIA WITH LOBAR ATROPHY AND NEURONAL CYTOPLASMIC INCLUSIONS	FALSE
OMIM	173100	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II; IGHD2	TRUE
OMIM	173100	IGHD II	FALSE
OMIM	173100	GROWTH HORMONE DEFICIENCY, ISOLATED, AUTOSOMAL DOMINANT	FALSE
OMIM	173100	PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMALDOMINANT	FALSE
OMIM	173470	+173470 INTEGRIN, BETA-3; ITGB3	TRUE
OMIM	173470	PLATELET GLYCOPROTEIN IIIa; GP3A	FALSE
OMIM	173470	GP IIIa	FALSE
OMIM	173470	PLATELET FIBRINOGEN RECEPTOR, BETA SUBUNIT	FALSE
OMIM	173470	CD61THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE, INCLUDED; NAIT, INCLUDED	FALSE
OMIM	173470	POSTTRANSFUSION PURPURA, INCLUDED; PTP, INCLUDED	FALSE
OMIM	173600	PNEUMOTHORAX, PRIMARY SPONTANEOUS	TRUE
OMIM	173650	KINDLER SYNDROME; KNDLRS	TRUE
OMIM	173800	POLAND SYNDROME	TRUE
OMIM	173800	POLAND SYNDACTYLY	FALSE
OMIM	173800	POLAND ANOMALY	FALSE
OMIM	173800	POLAND SEQUENCEPECTORALIS MUSCLE, ABSENCE OF, INCLUDED	FALSE
OMIM	174000	MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1	TRUE
OMIM	174770	ACTINIC PRURIGOPOLYMORPHIC LIGHT ERUPTION, HEREDITARY; HPLE	TRUE
OMIM	174770	JUVENILE SPRING ERUPTION OF EARS, INCLUDED	FALSE
OMIM	174800	MCCUNE-ALBRIGHT SYNDROME; MAS	TRUE
OMIM	174800	ALBRIGHT SYNDROMEPOLYOSTOTIC FIBROUS DYSPLASIA, INCLUDED; PFD, INCLUDED; POFD, INCLUDED	FALSE
OMIM	175100	FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1	TRUE
OMIM	175700	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME	TRUE
OMIM	175780	BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES; BSVD1	TRUE
OMIM	176000	PORPHYRIA, ACUTE INTERMITTENT	TRUE
OMIM	176000	AIP	FALSE
OMIM	176000	PORPHYRIA, SWEDISH TYPE	FALSE
OMIM	176000	PORPHOBILINOGEN DEAMINASE DEFICIENCY	FALSE
OMIM	176000	PBGD DEFICIENCY	FALSE
OMIM	176000	UROPORPHYRINOGEN SYNTHASE DEFICIENCY	FALSE
OMIM	176000	UPS DEFICIENCYPORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, INCLUDED	FALSE
OMIM	176000	PORPHYRIA, CHESTER TYPE, INCLUDED; PORC, INCLUDED	FALSE
OMIM	176100	PORPHYRIA CUTANEA TARDA	TRUE
OMIM	176270	PRADER-WILLI SYNDROME; PWS	TRUE
OMIM	176305	PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS	TRUE
OMIM	176410	PRECOCIOUS PUBERTY, MALE-LIMITED	TRUE
OMIM	176450	CURRARINO SYNDROME	TRUE
OMIM	176690	PROGEROID SHORT STATURE WITH PIGMENTED NEVI	TRUE
OMIM	176860	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMALDOMINANT	TRUE
OMIM	177200	LIDDLE SYNDROME 1; LIDLS1	TRUE
OMIM	177735	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A	TRUE
OMIM	177735	PHA I, AUTOSOMAL DOMINANT	FALSE
OMIM	178000	PTERYGIUM OF CONJUNCTIVA AND CORNEA	TRUE
OMIM	178110	CONTRACTURES, PTERYGIA, AND VARIABLE SKELETAL FUSIONS SYNDROME 1A; CPSKF1A	TRUE
OMIM	178600	PULMONARY HYPERTENSION, PRIMARY, 1; PPH1	TRUE
OMIM	178600	PHT	FALSE
OMIM	178600	PULMONARY ARTERIAL HYPERTENSION; PAHPULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED, INCLUDED	FALSE
OMIM	178600	PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED, INCLUDED	FALSE
OMIM	178600	PULMONARY HYPERTENSION, PRIMARY, 1, WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA,INCLUDED	FALSE
OMIM	178600	PPH1 WITH HHT, INCLUDED	FALSE
OMIM	178610	PULMONARY NODULAR LYMPHOID HYPERPLASIA, FAMILIAL	TRUE
OMIM	179830	RENAL TUBULAR ACIDOSIS, PROXIMAL	TRUE
OMIM	179830	RENAL TUBULAR ACIDOSIS II	FALSE
OMIM	179830	RTA, PROXIMAL TYPE	FALSE
OMIM	179830	RTA, RATE TYPE	FALSE
OMIM	180000	RETINAL ARTERIES, TORTUOSITY OF	TRUE
OMIM	180200	RETINOBLASTOMA; RB1	TRUE
OMIM	180500	AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1	TRUE
OMIM	180550	RING DERMOID OF CORNEA; RDC	TRUE
OMIM	180700	ROBINOW SYNDROME, AUTOSOMAL DOMINANT; DRS	TRUE
OMIM	180700	ROBINOW DWARFISM	FALSE
OMIM	180700	FETAL FACE SYNDROME	FALSE
OMIM	180700	ACRAL DYSOSTOSIS WITH FACIAL AND GENITAL ABNORMALITIES	FALSE
OMIM	180849	RUBINSTEIN-TAYBI SYNDROME 1; RSTS1	TRUE
OMIM	180870	RUVALCABA SYNDROME	TRUE
OMIM	180920	APLASIA OF LACRIMAL AND SALIVARY GLANDS	TRUE
OMIM	181000	SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1	TRUE
OMIM	181180	SAY SYNDROME	TRUE
OMIM	182210	SHPRINTZEN OMPHALOCELE SYNDROME	TRUE
OMIM	182250	SINGLETON-MERTEN SYNDROME 1; SGMRT1	TRUE
OMIM	182690	SPASTIC PARAPLEGIA, SENSORINEURAL DEAFNESS, MENTAL RETARDATION, AND	TRUE
OMIM	183090	SPINOCEREBELLAR ATAXIA 2; SCA2	TRUE
OMIM	183400	SPLIT LOWER LIP	TRUE
OMIM	183802	SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATICDEFECTS	TRUE
OMIM	184253	SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE	TRUE
OMIM	184460	STAPES ANKYLOSIS WITH BROAD THUMB AND TOES	TRUE
OMIM	184460	ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, ANDSYNDACTYLY	FALSE
OMIM	184460	TEUNISSEN-CREMERS SYNDROME	FALSE
OMIM	184460	STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM	FALSE
OMIM	184850	STIFF-PERSON SYNDROME; SPS	TRUE
OMIM	185700	SYMPHALANGISM, DISTAL	TRUE
OMIM	185750	SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET	TRUE
OMIM	185800	SYMPHALANGISM, PROXIMAL, 1A; SYM1A	TRUE
OMIM	185800	SYM1	FALSE
OMIM	185800	CUSHING SYMPHALANGISM	FALSE
OMIM	185800	HEREDITARY ABSENCE OF THE PROXIMAL INTERPHALANGEAL JOINTS	FALSE
OMIM	185900	CHROMOSOME 2q35 DUPLICATION SYNDROME	TRUE
OMIM	186000	SYNPOLYDACTYLY 1	TRUE
OMIM	186200	SYNDACTYLY, TYPE IV; SDTY4	TRUE
OMIM	186300	SYNDACTYLY, TYPE V	TRUE
OMIM	186350	SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME	TRUE
OMIM	186500	MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1	TRUE
OMIM	186500	SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY	FALSE
OMIM	186500	SYMPHALANGISM-BRACHYDACTYLY SYNDROME	FALSE
OMIM	186500	WL SYNDROME	FALSE
OMIM	186500	DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN	FALSE
OMIM	186500	FACIOAUDIOSYMPHALANGISM SYNDROME	FALSE
OMIM	186570	TARSAL-CARPAL COALITION SYNDROME; TCC; SYNOSTOSIS OF TALUS AND CALCANEUS WITH SHORT STATURE, INCLUDED	TRUE
OMIM	186580	BLAU SYNDROME	TRUE
OMIM	187300	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;HHT	TRUE
OMIM	187300	OSLER-RENDU-WEBER DISEASE	FALSE
OMIM	187300	ORW DISEASETELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, INCLUDED; HHT1, INCLUDED	FALSE
OMIM	187400	TESTICULAR TORSION	TRUE
OMIM	187600	THANATOPHORIC DYSPLASIA, TYPE I	TRUE
OMIM	187601	THANATOPHORIC DYSPLASIA, TYPE II	TRUE
OMIM	188400	DIGEORGE SYNDROME; DGS	TRUE
OMIM	190320	TRICHODENTOOSSEOUS SYNDROME	TRUE
OMIM	190350	TRICHORHINOPHALANGEAL SYNDROME, TYPE I	TRUE
OMIM	190351	TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3	TRUE
OMIM	190685	DOWN SYNDROMETRISOMY 21, INCLUDED	TRUE
OMIM	190685	DOWN SYNDROME CHROMOSOME REGION, INCLUDED; DCR, INCLUDED	FALSE
OMIM	190685	DOWN SYNDROME CRITICAL REGION, INCLUDED; DSCR, INCLUDED	FALSE
OMIM	190685	TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME, INCLUDED	FALSE
OMIM	190685	LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME, INCLUDED	FALSE
OMIM	190900	TRITANOPIA	TRUE
OMIM	191482	UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, ANDBRACHYDACTYLY	TRUE
OMIM	191482	BORK SYNDROME	FALSE
OMIM	191650	URETEROCELE	TRUE
OMIM	191830	RENAL HYPODYSPLASIA/APLASIA 1; RHDA1	TRUE
OMIM	191830	RENAL ADYSPLASIA	FALSE
OMIM	191830	RENAL AGENESIS	FALSE
OMIM	191830	RENAL APLASIA	FALSE
OMIM	191830	HEREDITARY RENAL APLASIA; HRA	FALSE
OMIM	191900	MUCKLE-WELLS SYNDROME; MWS	TRUE
OMIM	191900	URTICARIA-DEAFNESS-AMYLOIDOSIS SYNDROME	FALSE
OMIM	191900	UDA SYNDROME	FALSE
OMIM	191900	CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 2; CAPS2	FALSE
OMIM	192315	VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL	TRUE
OMIM	192430	VELOCARDIOFACIAL SYNDROME	TRUE
OMIM	192600	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1	TRUE
OMIM	192600	CMH	FALSE
OMIM	192600	VENTRICULAR HYPERTROPHY, HEREDITARY	FALSE
OMIM	192600	ASYMMETRIC SEPTAL HYPERTROPHY; ASH	FALSE
OMIM	192600	HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC	FALSE
OMIM	193400	VON WILLEBRAND DISEASE, TYPE 1; VWD1	TRUE
OMIM	193400	VON WILLEBRAND DISEASE, TYPE I	FALSE
OMIM	193400	VWD, TYPE 1	FALSE
OMIM	193520	WATSON SYNDROME	TRUE
OMIM	193530	WEYERS ACROFACIAL DYSOSTOSIS	TRUE
OMIM	193700	ARTHROGRYPOSIS, DISTAL, TYPE 2A	TRUE
OMIM	194050	WILLIAMS-BEUREN SYNDROME; WBS	TRUE
OMIM	194080	DENYS-DRASH SYNDROME; DDS	TRUE
OMIM	194080	DRASH SYNDROME	FALSE
OMIM	194080	WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM	FALSE
OMIM	194080	NEPHROPATHY, WILMS TUMOR, AND GENITAL ANOMALIES	FALSE
OMIM	194190	WOLF-HIRSCHHORN SYNDROME; WHS	TRUE
OMIM	194190	CHROMOSOME 4p16.3 DELETION SYNDROME	FALSE
OMIM	194190	PITT-ROGERS-DANKS SYNDROME; PRDS	FALSE
OMIM	194190	PITT SYNDROME	FALSE
OMIM	194350	WT LIMB-BLOOD SYNDROME	TRUE
OMIM	200110	ABLEPHARON-MACROSTOMIA SYNDROME	TRUE
OMIM	200600	ACHONDROGENESIS, TYPE IA; ACG1A	TRUE
OMIM	200600	ACHONDROGENESIS, HOUSTON-HARRIS TYPE	FALSE
OMIM	200610	ACHONDROGENESIS, TYPE II; ACG2	TRUE
OMIM	200610	ACHONDROGENESIS, LANGER-SALDINO TYPE	FALSE
OMIM	200610	CHONDROGENESIS IMPERFECTA	FALSE
OMIM	200610	ACHONDROGENESIS, TYPE IB, FORMERLYHYPOCHONDROGENESIS, INCLUDED	FALSE
OMIM	200700	CHONDRODYSPLASIA, GREBE TYPE	TRUE
OMIM	200700	ACHONDROGENESIS, BRAZILIAN	FALSE
OMIM	200700	GREBE CHONDRODYSPLASIA	FALSE
OMIM	200700	GREBE DYSPLASIA	FALSE
OMIM	200700	ACROMESOMELIC DYSPLASIA, GREBE TYPE; AMDG	FALSE
OMIM	200700	ACHONDROGENESIS, TYPE II, FORMERLY	FALSE
OMIM	200980	ACRORENAL-MANDIBULAR SYNDROME	TRUE
OMIM	201100	ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE	TRUE
OMIM	201170	ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ	TRUE
OMIM	201180	ACROFRONTOFACIONASAL DYSOSTOSIS 1	TRUE
OMIM	201300	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II	TRUE
OMIM	201475	ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF	TRUE
OMIM	201710	LIPOID CONGENITAL ADRENAL HYPERPLASIA	TRUE
OMIM	201750	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1	TRUE
OMIM	201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	TRUE
OMIM	202010	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASEDEFICIENCY	TRUE
OMIM	202110	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY	TRUE
OMIM	203500	ALKAPTONURIA	TRUE
OMIM	204000	LEBER CONGENITAL AMAUROSIS, TYPE I	TRUE
OMIM	204100	LEBER CONGENITAL AMAUROSIS, TYPE II	TRUE
OMIM	204200	CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3	TRUE
OMIM	204300	CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE	TRUE
OMIM	204500	CEROID LIPOFUSCINOSIS, NEURONAL, 2	TRUE
OMIM	205100	AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2	TRUE
OMIM	206300	ANEMIA, NONSPHEROCYTIC HEMOLYTIC, ASSOCIATED WITH ABNORMALITY OF REDCELL MEMBRANE	TRUE
OMIM	206400	ANEMIA, NONSPHEROCYTIC HEMOLYTIC, POSSIBLY DUE TO DEFECT IN PORPHYRINMETABOLISM	TRUE
OMIM	206570	ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT	TRUE
OMIM	206920	MICROPHTHALMIA WITH LIMB ANOMALIES	TRUE
OMIM	206920	WAARDENBURG ANOPHTHALMIA SYNDROME	FALSE
OMIM	206920	ANOPHTHALMIA-SYNDACTYLY	FALSE
OMIM	206920	OPHTHALMOACROMELIC SYNDROME; OAS	FALSE
OMIM	207410	ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2	TRUE
OMIM	207731	APLASIA CUTIS CONGENITA WITH INTESTINAL LYMPHANGIECTASIA	TRUE
OMIM	207750	APOLIPOPROTEIN C-II DEFICIENCY	TRUE
OMIM	207900	ARGININOSUCCINIC ACIDURIA	TRUE
OMIM	208000	ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1	TRUE
OMIM	208050	ARTERIAL TORTUOSITY SYNDROME	TRUE
OMIM	208080	ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION,AND FACIAL ANOMALIES	TRUE
OMIM	208150	FETAL AKINESIA DEFORMATION SEQUENCE; FADS	TRUE
OMIM	208155	ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE	TRUE
OMIM	208400	ASPARTYLGLUCOSAMINURIA; AGU	TRUE
OMIM	208530	ASPLENIA WITH CARDIOVASCULAR ANOMALIES	TRUE
OMIM	208540	RENAL-HEPATIC-PANCREATIC DYSPLASIA; RHPD	TRUE
OMIM	208900	ATAXIA-TELANGIECTASIA; AT	TRUE
OMIM	208900	AT1	FALSE
OMIM	208900	LOUIS-BAR SYNDROMEAT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED	FALSE
OMIM	208900	AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED	FALSE
OMIM	208900	AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED	FALSE
OMIM	208900	AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED	FALSE
OMIM	208900	ATAXIA-TELANGIECTASIA VARIANT, INCLUDED	FALSE
OMIM	208910	ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLY DEATH	TRUE
OMIM	208920	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH	TRUE
OMIM	209010	ATHEROSCLEROSIS, PREMATURE, WITH DEAFNESS, NEPHROPATHY, DIABETES MELLITUS,PHOTOMYOCLONUS, AND DEGENERATIVE NEUROLOGIC DISEASE	TRUE
OMIM	209850	AUTISM	TRUE
OMIM	209885	BARBER-SAY SYNDROME; BBRSAY	TRUE
OMIM	209900	BARDET-BIEDL SYNDROME 1; BBS1	TRUE
OMIM	210550	BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY	TRUE
OMIM	210900	BLOOM SYNDROME	TRUE
OMIM	211380	ELSAHY-WATERS SYNDROME; ESWS	TRUE
OMIM	211750	C SYNDROME	TRUE
OMIM	211910	CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I; GCS1	TRUE
OMIM	211910	FACIOTHORACOSKELETAL SYNDROME; FTSS	FALSE
OMIM	211920	CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE II	TRUE
OMIM	212065	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A	TRUE
OMIM	212066	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A	TRUE
OMIM	212130	CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH	TRUE
OMIM	212360	PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 2; PPKCA2	TRUE
OMIM	212500	CATARACT, CONGENITAL OR JUVENILECATARACT, JUVENILE, HUTTERITE TYPE, INCLUDED	TRUE
OMIM	212840	CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM; CAHH	TRUE
OMIM	212840	GORDON HOLMES SYNDROME	FALSE
OMIM	212840	LUTEINIZING HORMONE-RELEASING HORMONE, DEFICIENCY OF, WITH ATAXIA	FALSE
OMIM	212840	LHRH DEFICIENCY AND ATAXIA	FALSE
OMIM	213010	CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZSYNDROME AND MECKEL SYNDROME	TRUE
OMIM	213300	JOUBERT SYNDROME 1	TRUE
OMIM	213980	CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME	TRUE
OMIM	214100	PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)	TRUE
OMIM	214110	PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A	TRUE
OMIM	214300	KLIPPEL-FEIL SYNDROME, AUTOSOMAL RECESSIVE	TRUE
OMIM	214400	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A	TRUE
OMIM	214450	GRISCELLI SYNDROME, TYPE 1	TRUE
OMIM	214700	DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; DIAR1	TRUE
OMIM	214700	CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE	FALSE
OMIM	214700	CHLORIDORRHEA, CONGENITAL	FALSE
OMIM	214800	CHARGE SYNDROME	TRUE
OMIM	214900	CHOLESTASIS-LYMPHEDEMA SYNDROME	TRUE
OMIM	215140	GREENBERG DYSPLASIA; GRBGD	TRUE
OMIM	215140	HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA	FALSE
OMIM	215140	HEM SKELETAL DYSPLASIA	FALSE
OMIM	215140	MOTH-EATEN SKELETAL DYSPLASIA	FALSE
OMIM	215140	CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE	FALSE
OMIM	215400	CHORDOMA, SUSCEPTIBILITY TO; CHDM	TRUE
OMIM	215470	Boucher-Neuhauser syndrome	TRUE
OMIM	215700	CITRULLINEMIA, CLASSIC	TRUE
OMIM	216100	CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY	TRUE
OMIM	216340	YUNIS-VARON SYNDROME	TRUE
OMIM	216400	COCKAYNE SYNDROME A; CSA	TRUE
OMIM	216550	COHEN SYNDROME	TRUE
OMIM	216800	COLOBOMA OF MACULA AND SKELETAL ANOMALIES	TRUE
OMIM	217100	CONSTRICTING BANDS, CONGENITAL	TRUE
OMIM	217100	AMNIOTIC BAND SEQUENCE; ABS	FALSE
OMIM	217100	STREETER ANOMALYADAM COMPLEX, INCLUDED	FALSE
OMIM	217100	TERMINAL TRANSVERSE DEFECTS OF ARM, INCLUDED	FALSE
OMIM	217100	AMPUTATION, CONGENITAL, INCLUDED	FALSE
OMIM	217150	CONTRACTURES, CONGENITAL, TORTICOLLIS, AND MALIGNANT HYPERTHERMIA	TRUE
OMIM	217300	CORNEA PLANA 2; CNA2	TRUE
OMIM	218030	APPARENT MINERALOCORTICOID EXCESS; AME	TRUE
OMIM	218030	AME1	FALSE
OMIM	218030	CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY	FALSE
OMIM	218040	COSTELLO SYNDROME; CSTLO	TRUE
OMIM	218340	TEMTAMY SYNDROME; TEMTYS	TRUE
OMIM	218350	CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE	TRUE
OMIM	218400	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; CMDR	TRUE
OMIM	218649	CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG	TRUE
OMIM	218800	CRIGLER-NAJJAR SYNDROME, TYPE I	TRUE
OMIM	218800	HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I; HBLRCN1	FALSE
OMIM	218800	CRIGLER-NAJJAR SYNDROME	FALSE
OMIM	219000	FRASER SYNDROME	TRUE
OMIM	219000	CRYPTOPHTHALMOS WITH OTHER MALFORMATIONSCRYPTOPHTHALMOS-SYNDACTYLY SYNDROME, INCLUDED	FALSE
OMIM	219080	ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1	TRUE
OMIM	219090	PITUITARY ADENOMA 4, ACTH-SECRETING; PITA4	TRUE
OMIM	219150	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA	TRUE
OMIM	219250	CUTIS MARMORATA TELANGIECTATICA CONGENITA	TRUE
OMIM	219730	VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE; VMCKD	TRUE
OMIM	219750	CYSTINOSIS, ADULT NONNEPHROPATHIC	TRUE
OMIM	219750	CYSTINOSIS, OCULAR NONNEPHROPATHIC	FALSE
OMIM	219750	CYSTINOSIS, BENIGN NONNEPHROPATHIC	FALSE
OMIM	219800	CYSTINOSIS, NEPHROPATHIC; CTNS	TRUE
OMIM	219900	CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE	TRUE
OMIM	219900	CYSTINOSIS, INTERMEDIATE	FALSE
OMIM	220150	HYPOURICEMIA, RENAL, 1; RHUC1	TRUE
OMIM	220200	DANDY-WALKER SYNDROME	TRUE
OMIM	220219	DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, AND BRACHYTELEPHALANGY	TRUE
OMIM	220220	DANDY-WALKER MALFORMATION WITH POSTAXIAL POLYDACTYLY	TRUE
OMIM	221750	DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM	TRUE
OMIM	221770	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL	TRUE
OMIM	221780	DERMATOGLYPHICS--HYPOTHENAR RADIAL ARCH	TRUE
OMIM	221810	DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE	TRUE
OMIM	221810	KIRGHIZIAN DERMATOOSTEOLYSIS	FALSE
OMIM	221820	LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS; HDLS	TRUE
OMIM	221820	LEUKOENCEPHALOPATHY WITH NEUROAXONAL SPHEROIDS, AUTOSOMAL DOMINANT	FALSE
OMIM	221820	GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL; GPSC	FALSE
OMIM	221820	DEMENTIA, FAMILIAL, NEUMANN TYPE	FALSE
OMIM	221820	SUBCORTICAL GLIOSIS OF NEUMANN	FALSE
OMIM	221900	PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE; PHPVAR	TRUE
OMIM	221900	RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL; RNANC; NCRNA	FALSE
OMIM	221900	RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT	FALSE
OMIM	221900	PERSISTENT FETAL VASCULATURE	FALSE
OMIM	222470	TRICHOHEPATOENTERIC SYNDROME 1	TRUE
OMIM	222600	DIASTROPHIC DYSPLASIA	TRUE
OMIM	222600	DTD	FALSE
OMIM	222600	DDDIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, INCLUDED	FALSE
OMIM	222700	LYSINURIC PROTEIN INTOLERANCE; LPI	TRUE
OMIM	222800	ERYTHROCYTOSIS, FAMILIAL, 8; ECYT8	TRUE
OMIM	223360	DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL	TRUE
OMIM	223360	NOREPINEPHRINE DEFICIENCY	FALSE
OMIM	223360	NORADRENALINE DEFICIENCY	FALSE
OMIM	223540	DWARFISM, MENTAL RETARDATION, AND EYE ABNORMALITY	TRUE
OMIM	223540	MOLLICA SYNDROME	FALSE
OMIM	223800	DYGGVE-MELCHIOR-CLAUSEN DISEASE	TRUE
OMIM	223900	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III	TRUE
OMIM	224120	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia; CDAN1A	TRUE
OMIM	224120	DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia	FALSE
OMIM	224120	CDA Ia	FALSE
OMIM	224120	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I	FALSE
OMIM	224230	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1	TRUE
OMIM	224300	DYSOSTEOSCLEROSIS	TRUE
OMIM	224690	MEIER-GORLIN SYNDROME 1; MGORS1	TRUE
OMIM	224750	SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS	TRUE
OMIM	224900	ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B	TRUE
OMIM	225040	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESISOF THE CORPUS CALLOSUM	TRUE
OMIM	225050	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND CILIARYDYSKINESIA	TRUE
OMIM	225400	EHLERS-DANLOS SYNDROME, TYPE VI	TRUE
OMIM	225410	EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE	TRUE
OMIM	225410	EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE	FALSE
OMIM	225410	DERMATOSPARAXIS	FALSE
OMIM	225410	EDS VIIC	FALSE
OMIM	225410	EDS7C	FALSE
OMIM	225500	ELLIS-VAN CREVELD SYNDROME	TRUE
OMIM	226730	EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA	TRUE
OMIM	226730	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	FALSE
OMIM	226730	JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA	FALSE
OMIM	226730	JEB-PA	FALSE
OMIM	226730	EPIDERMYLOSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA AND APLASIACUTIS CONGENITA	FALSE
OMIM	226730	EB-PA-ACC	FALSE
OMIM	226730	CARMI SYNDROME	FALSE
OMIM	226730	APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA	FALSE
OMIM	227210	EYEBROWS, DUPLICATION OF, WITH STRETCHABLE SKIN AND SYNDACTYLY	TRUE
OMIM	227255	FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS	TRUE
OMIM	227320	FACIOTHORACOGENITAL SYNDROME	TRUE
OMIM	227330	FACIODIGITOGENITAL SYNDROME, AUTOSOMAL RECESSIVE	TRUE
OMIM	227645	FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC	TRUE
OMIM	227645	FACC; FAC	FALSE
OMIM	227645	FANCONI PANCYTOPENIA, TYPE 3; FA3	FALSE
OMIM	227646	FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2	TRUE
OMIM	227646	FAD2	FALSE
OMIM	227646	FANCONI ANEMIA, COMPLEMENTATION GROUP D; FANCD; FACD	FALSE
OMIM	227646	FANCONI PANCYTOPENIA, TYPE 4; FA4	FALSE
OMIM	227650	FANCONI ANEMIA	TRUE
OMIM	228100	VISCERAL STEATOSIS, CONGENITAL	TRUE
OMIM	228520	FIBROCHONDROGENESIS 1; FBCG1	TRUE
OMIM	228930	FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY	TRUE
OMIM	229200	BRITTLE CORNEA SYNDROME	TRUE
OMIM	229310	FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA	TRUE
OMIM	229600	FRUCTOSE INTOLERANCE, HEREDITARY	TRUE
OMIM	229600	FRUCTOSEMIA	FALSE
OMIM	229600	FRUCTOSE-1-PHOSPHATE ALDOLASE DEFICIENCY	FALSE
OMIM	229600	FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B DEFICIENCY	FALSE
OMIM	229600	ALDOLASE B DEFICIENCY	FALSE
OMIM	229600	ALDOB DEFICIENCY	FALSE
OMIM	230000	FUCOSIDOSIS	TRUE
OMIM	230000	ALPHA-L-FUCOSIDASE DEFICIENCY	FALSE
OMIM	230500	GM1-GANGLIOSIDOSIS, TYPE I	TRUE
OMIM	230500	GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I	FALSE
OMIM	230500	GANGLIOSIDOSIS, GENERALIZED GM1, INFANTILE FORM	FALSE
OMIM	230500	GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1	FALSE
OMIM	230500	BETA-GALACTOSIDASE-1 DEFICIENCY	FALSE
OMIM	230500	GLB1 DEFICIENCYGM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED	FALSE
OMIM	230500	GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I, WITH CARDIAC INVOLVEMENT,INCLUDED	FALSE
OMIM	230600	GM1-GANGLIOSIDOSIS, TYPE II	TRUE
OMIM	230600	GANGLIOSIDOSIS, GENERALIZED GM1, JUVENILE TYPE	FALSE
OMIM	230600	GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II	FALSE
OMIM	230600	GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE, INCLUDED	FALSE
OMIM	230740	GAPO SYNDROME; GAPOS	TRUE
OMIM	231005	GAUCHER DISEASE, TYPE IIIC	TRUE
OMIM	231100	HEMOCHROMATOSIS, NEONATAL	TRUE
OMIM	231680	MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD	TRUE
OMIM	232200	GLYCOGEN STORAGE DISEASE IA	TRUE
OMIM	232220	GLYCOGEN STORAGE DISEASE IB	TRUE
OMIM	233600	IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA; IMD59	TRUE
OMIM	234100	HALLERMANN-STREIFF SYNDROME; HSS	TRUE
OMIM	234200	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1	TRUE
OMIM	234700	HEART BLOCK, CONGENITAL	TRUE
OMIM	234800	HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES	TRUE
OMIM	235400	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1	TRUE
OMIM	235400	AHUS, SUSCEPTIBILITY TO, 1HEMOLYTIC UREMIC SYNDROME, TYPICAL, INCLUDED	FALSE
OMIM	235510	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME	TRUE
OMIM	235700	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY	TRUE
OMIM	236100	HOLOPROSENCEPHALY 1; HPE1	TRUE
OMIM	236200	HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY	TRUE
OMIM	236250	HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATEREDUCTASE ACTIVITY	TRUE
OMIM	236250	METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY	FALSE
OMIM	236250	MTHFR DEFICIENCYMTHFR DEFICIENCY, THERMOLABILE TYPE, INCLUDED	FALSE
OMIM	236270	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLE COMPLEMENTATION TYPE	TRUE
OMIM	236500	MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY; MARCH	TRUE
OMIM	236670	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE	TRUE
OMIM	236680	HYDROLETHALUS SYNDROME 1	TRUE
OMIM	236700	MCKUSICK-KAUFMAN SYNDROME; MKKS	TRUE
OMIM	236700	HYDROMETROCOLPOS SYNDROME	FALSE
OMIM	236700	HYDROMETROCOLPOS, POSTAXIAL POLYDACTYLY, AND CONGENITAL HEART MALFORMATION;HMCS	FALSE
OMIM	236700	KAUFMAN-MCKUSICK SYNDROME	FALSE
OMIM	237300	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO	TRUE
OMIM	237300	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY	FALSE
OMIM	237300	CPS I DEFICIENCY	FALSE
OMIM	237900	HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATALBREASTFEEDING JAUNDICE, INCLUDED	TRUE
OMIM	238600	HYPERLIPOPROTEINEMIA, TYPE I	TRUE
OMIM	238700	HYPERLYSINEMIA, TYPE I	TRUE
OMIM	238710	HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCHONDRIA	TRUE
OMIM	238750	HYPERLYSINURIA WITH HYPERAMMONEMIA	TRUE
OMIM	238970	HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME	TRUE
OMIM	239100	HYPEROSTOSIS CORTICALIS GENERALISATA	TRUE
OMIM	239100	VAN BUCHEM DISEASE; VBCH	FALSE
OMIM	239100	HYPERPHOSPHATASEMIA TARDA	FALSE
OMIM	239100	ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL RECESSIVE	FALSE
OMIM	239300	HYPERPHOSPHATASIA WITH MENTAL RETARDATION	TRUE
OMIM	240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I	TRUE
OMIM	241150	HYPOKALEMIC ALKALOSIS, FAMILIAL, WITH SPECIFIC RENAL TUBULOPATHY	TRUE
OMIM	241150	HYPOKALEMIA, FAMILIAL	FALSE
OMIM	241150	GULLNER SYNDROME	FALSE
OMIM	241200	BARTTER SYNDROME, ANTENATAL, TYPE 2	TRUE
OMIM	241310	HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS	TRUE
OMIM	241500	HYPOPHOSPHATASIA, INFANTILE	TRUE
OMIM	241510	HYPOPHOSPHATASIA, CHILDHOOD	TRUE
OMIM	241530	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	TRUE
OMIM	242150	ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS	TRUE
OMIM	242700	IMMUNE DEFECT DUE TO ABSENCE OF THYMUS	TRUE
OMIM	242840	VICI SYNDROME; VICIS	TRUE
OMIM	243060	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	TRUE
OMIM	243440	ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME	TRUE
OMIM	243440	MICROTIA-AORTIC ARCH SYNDROME	FALSE
OMIM	243605	STROMME SYNDROME; STROMS	TRUE
OMIM	243800	JOHANSON-BLIZZARD SYNDROME; JBS	TRUE
OMIM	243910	ARIMA SYNDROME	TRUE
OMIM	244400	CILIARY DYSKINESIA, PRIMARY, 1; CILD1	TRUE
OMIM	244400	PCD	FALSE
OMIM	244400	CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS	FALSE
OMIM	244400	IMMOTILE CILIA SYNDROME; ICS	FALSE
OMIM	244400	POLYNESIAN BRONCHIECTASISKARTAGENER SYNDROME, INCLUDED	FALSE
OMIM	244400	DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS, INCLUDED	FALSE
OMIM	244400	SIEWERT SYNDROME, INCLUDED	FALSE
OMIM	245000	PAPILLON-LEFEVRE SYNDROME	TRUE
OMIM	245010	HAIM-MUNK SYNDROME	TRUE
OMIM	245160	KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS	TRUE
OMIM	245160	BURTON SYNDROME	FALSE
OMIM	245190	KNIEST-LIKE DYSPLASIA, LETHAL	TRUE
OMIM	245600	MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS	TRUE
OMIM	246000	LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT	TRUE
OMIM	247100	LIPOID PROTEINOSIS OF URBACH AND WIETHE	TRUE
OMIM	247150	LIP PRINTS	TRUE
OMIM	247990	MACDERMOT-WINTER SYNDROME	TRUE
OMIM	248190	HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT; HOMG5	TRUE
OMIM	248340	3MC SYNDROME 3	TRUE
OMIM	248370	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA	TRUE
OMIM	248390	TREACHER COLLINS SYNDROME 3; TCS3	TRUE
OMIM	248400	MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION	TRUE
OMIM	248510	MANNOSIDOSIS, BETA A, LYSOSOMAL	TRUE
OMIM	249000	MECKEL SYNDROME, TYPE 1; MKS1	TRUE
OMIM	249100	FAMILIAL MEDITERRANEAN FEVER; FMF	TRUE
OMIM	249310	MEGALOCORNEA-MENTAL RETARDATION SYNDROME	TRUE
OMIM	249420	FRANK-TER HAAR SYNDROME; FTHS	TRUE
OMIM	250220	SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE; SMDS	TRUE
OMIM	250230	METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE	TRUE
OMIM	250400	METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE	TRUE
OMIM	250420	METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS	TRUE
OMIM	250450	METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY	TRUE
OMIM	250700	METHEMOGLOBIN REDUCTASE DEFICIENCY	TRUE
OMIM	250700	NADPH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY	FALSE
OMIM	250700	TPNH-METHEMOGLOBIN REDUCTASE DEFICIENCY	FALSE
OMIM	250940	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE	TRUE
OMIM	251000	METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY	TRUE
OMIM	251100	METHYLMALONIC ACIDURIA, CBLA TYPE	TRUE
OMIM	251110	METHYLMALONIC ACIDURIA, CBLB TYPE	TRUE
OMIM	251260	NIJMEGEN BREAKAGE SYNDROME	TRUE
OMIM	251505	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 4	TRUE
OMIM	251880	MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)	TRUE
OMIM	252150	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A; MOCODA	TRUE
OMIM	252160	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB	TRUE
OMIM	252500	MUCOLIPIDOSIS II ALPHA/BETA	TRUE
OMIM	252500	MUCOLIPIDOSIS II; ML II	FALSE
OMIM	252500	ML II ALPHA/BETA	FALSE
OMIM	252500	I-CELL DISEASE; ICD	FALSE
OMIM	252600	MUCOLIPIDOSIS III ALPHA/BETA	TRUE
OMIM	252900	MUCOPOLYSACCHARIDOSIS TYPE IIIA	TRUE
OMIM	252920	MUCOPOLYSACCHARIDOSIS TYPE IIIB	TRUE
OMIM	252930	MUCOPOLYSACCHARIDOSIS TYPE IIIC	TRUE
OMIM	252930	MPS IIIC; MPS3C	FALSE
OMIM	252930	SANFILIPPO SYNDROME C	FALSE
OMIM	252930	ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY	FALSE
OMIM	252940	MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D	TRUE
OMIM	252940	MPS IIID	FALSE
OMIM	252940	SANFILIPPO SYNDROME D	FALSE
OMIM	252940	N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY	FALSE
OMIM	253000	MORQUIO SYNDROME A	TRUE
OMIM	253010	MUCOPOLYSACCHARIDOSIS TYPE IVB	TRUE
OMIM	253010	MORQUIO SYNDROME B	FALSE
OMIM	253010	MPS IVB; MPS4B	FALSE
OMIM	253220	MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7	TRUE
OMIM	253250	MULIBREY NANISM	TRUE
OMIM	253250	MUSCLE-LIVER-BRAIN-EYE NANISM	FALSE
OMIM	253250	PERICARDIAL CONSTRICTION AND GROWTH FAILURE	FALSE
OMIM	253250	PERHEENTUPA SYNDROME	FALSE
OMIM	253290	MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS	TRUE
OMIM	253290	PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE	FALSE
OMIM	253310	LETHAL CONGENITAL CONTRACTURE SYNDROME 1; LCCS1	TRUE
OMIM	253310	LCCS	FALSE
OMIM	253310	MULTIPLE CONTRACTURE SYNDROME, FINNISH TYPE	FALSE
OMIM	253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4	TRUE
OMIM	255800	SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1	TRUE
OMIM	256000	LEIGH SYNDROME; LS	TRUE
OMIM	256100	NEPHRONOPHTHISIS 1	TRUE
OMIM	256520	NEU-LAXOVA SYNDROME; NLS	TRUE
OMIM	256710	ELEJALDE DISEASE	TRUE
OMIM	256730	CEROID LIPOFUSCINOSIS, NEURONAL, 1	TRUE
OMIM	256731	CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5	TRUE
OMIM	256731	CEROID LIPOFUSCINOSIS, NEURONAL, 5, VARIABLE AGE AT ONSETNEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT, INCLUDED	FALSE
OMIM	256731	FINNISH vLINCL, INCLUDED	FALSE
OMIM	256810	NAVAJO NEUROHEPATOPATHY	TRUE
OMIM	257200	NIEMANN-PICK DISEASE, TYPE A	TRUE
OMIM	257220	NIEMANN-PICK DISEASE, TYPE C1; NPC1	TRUE
OMIM	257800	OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION	TRUE
OMIM	257850	OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE	TRUE
OMIM	257910	OCULOPALATOCEREBRAL SYNDROME	TRUE
OMIM	258040	OEIS COMPLEX	TRUE
OMIM	258040	OMPHALOCELE-EXSTROPHY-IMPERFORATE ANUS-SPINAL DEFECTS	FALSE
OMIM	258315	OMODYSPLASIA 1; OMOD1	TRUE
OMIM	258480	OPSISMODYSPLASIA; OPSMD	TRUE
OMIM	258500	OPTIC ATROPHY 6; OPA6	TRUE
OMIM	258500	OPTIC ATROPHY, CONGENITAL OR EARLY INFANTILE, AUTOSOMAL RECESSIVE	FALSE
OMIM	258840	ORAL AND DIGITAL ANOMALIES WITH ICHTHYOSIS	TRUE
OMIM	259050	PRIMROSE SYNDROME; PRIMS	TRUE
OMIM	259440	Osteogenesis imperfecta, type IX	TRUE
OMIM	259600	MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA	TRUE
OMIM	259610	OSTEOLYSIS SYNDROME, RECESSIVE	TRUE
OMIM	259610	OSTEOLYSIS, DISTAL, WITH SHORT STATURE, MENTAL RETARDATION, AND CHARACTERISTICFACIAL APPEARANCE	FALSE
OMIM	259710	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2	TRUE
OMIM	259710	OSTEOPETROSIS, OSTEOCLAST-POOR	FALSE
OMIM	259710	OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM	FALSE
OMIM	259720	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5	TRUE
OMIM	259730	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3	TRUE
OMIM	259770	OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	TRUE
OMIM	260370	PANCREATIC AGENESIS, CONGENITAL; PAGEN	TRUE
OMIM	260370	PANCREATIC HYPOPLASIA, CONGENITAL	FALSE
OMIM	260400	SHWACHMAN-DIAMOND SYNDROME 1; SDS1	TRUE
OMIM	260900	PERICARDIAL EFFUSION, CHRONIC	TRUE
OMIM	261500	EOSINOPHIL PEROXIDASE DEFICIENCY; EPXD	TRUE
OMIM	261515	D-BIFUNCTIONAL PROTEIN DEFICIENCY	TRUE
OMIM	261540	PETERS-PLUS SYNDROME; PTRPLS	TRUE
OMIM	261550	PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II	TRUE
OMIM	261650	PHOSPHOENOLPYRUVATE CARBOXYKINASE 2, MITOCHONDRIAL	TRUE
OMIM	261680	PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC; PCKDC	TRUE
OMIM	262190	PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES	TRUE
OMIM	262400	Growth hormone deficiency, isolated, type IA	TRUE
OMIM	262650	PITUITARY DWARFISM IV	TRUE
OMIM	262700	PITUITARY DWARFISM WITH SMALL SELLA TURCICA	TRUE
OMIM	262710	PITUITARY DWARFISM WITH LARGE SELLA TURCICA	TRUE
OMIM	263200	POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD4	TRUE
OMIM	263210	POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY,HYPERTELORISM, AND BRACHYMELIA	TRUE
OMIM	263300	POLYCYTHEMIA VERA	TRUE
OMIM	263300	PV	FALSE
OMIM	263300	POLYCYTHEMIA RUBRA VERA; PRV	FALSE
OMIM	263400	ERYTHROCYTOSIS, FAMILIAL, 2; ECYT2	TRUE
OMIM	263400	ERYTHROCYTOSIS, AUTOSOMAL RECESSIVE BENIGN	FALSE
OMIM	263400	POLYCYTHEMIA, VHL-DEPENDENT	FALSE
OMIM	263400	POLYCYTHEMIA, CHUVASH TYPE	FALSE
OMIM	263650	BARTSOCAS-PAPAS SYNDROME; BPS	TRUE
OMIM	263800	GITELMAN SYNDROME	TRUE
OMIM	264090	WIEDEMANN-RAUTENSTRAUCH SYNDROME; WDRTS	TRUE
OMIM	264350	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1B	TRUE
OMIM	264350	PHA I, AUTOSOMAL RECESSIVE	FALSE
OMIM	264475	PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HANDANOMALIES	TRUE
OMIM	264475	ACROOTOOCULAR SYNDROME	FALSE
OMIM	264475	AOO SYNDROME	FALSE
OMIM	264700	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	TRUE
OMIM	265000	MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS	TRUE
OMIM	265000	ESCOBAR SYNDROME	FALSE
OMIM	265000	MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE	FALSE
OMIM	265000	PTERYGIUM SYNDROME	FALSE
OMIM	265000	MULTIPLE PTERYGIUM SYNDROME	FALSE
OMIM	265000	PTERYGIUM COLLI SYNDROME	FALSE
OMIM	265000	PTERYGIUM UNIVERSALE	FALSE
OMIM	265300	LYMPHANGIECTASIA, PULMONARY, CONGENITAL; CPL	TRUE
OMIM	265300	LYMPHANGIOMATOSIS, PULMONARY	FALSE
OMIM	265300	PULMONARY CYSTIC LYMPHANGIECTASIS	FALSE
OMIM	265380	ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS; ACDMPV	TRUE
OMIM	266100	EPILEPSY, PYRIDOXINE-DEPENDENT	TRUE
OMIM	266130	GLUTATHIONE SYNTHETASE DEFICIENCY	TRUE
OMIM	266150	PYRUVATE CARBOXYLASE DEFICIENCY	TRUE
OMIM	266200	PYRUVATE KINASE DEFICIENCY OF RED CELLS	TRUE
OMIM	266265	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C	TRUE
OMIM	266270	RAMON SYNDROME	TRUE
OMIM	266280	RAPADILINO SYNDROME	TRUE
OMIM	267010	MECKEL SYNDROME, TYPE 7; MKS7	TRUE
OMIM	267010	RENAL-HEPATIC-PANCREATIC DYSPLASIA WITH DANDY-WALKER CYST	FALSE
OMIM	267010	GOLDSTON SYNDROME	FALSE
OMIM	267430	RENAL TUBULAR DYSGENESIS; RTD	TRUE
OMIM	267430	PRIMITIVE RENAL TUBULE SYNDROMERENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA, INCLUDED	FALSE
OMIM	267750	KNOBLOCH SYNDROME 1; KNO1	TRUE
OMIM	267760	RETINAL DEGENERATION WITH NANOPHTHALMOS, CYSTIC MACULAR DEGENERATION,AND ANGLE CLOSURE GLAUCOMA	TRUE
OMIM	268130	REVESZ SYNDROME	TRUE
OMIM	268300	ROBERTS SYNDROME; RBS	TRUE
OMIM	268310	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS	TRUE
OMIM	268310	COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA, FORMERLY	FALSE
OMIM	268310	COVESDEM SYNDROME, FORMERLYROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OFPHALANGES AND METACARPALS/METATARSALS, INCLUDED	FALSE
OMIM	268310	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY,INCLUDED	FALSE
OMIM	268650	RUDIGER SYNDROME	TRUE
OMIM	269150	SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME	TRUE
OMIM	269200	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II	TRUE
OMIM	269250	SCHNECKENBECKEN DYSPLASIA	TRUE
OMIM	269500	SCLEROSTEOSIS 1; SOST1	TRUE
OMIM	269600	SEA-BLUE HISTIOCYTE DISEASE	TRUE
OMIM	269700	Lipodystrophy, congenital generalized, type 2	TRUE
OMIM	269860	SHORT-RIB THORACIC DYSPLASIA 12; SRTD12	TRUE
OMIM	269880	SHORT SYNDROME	TRUE
OMIM	270400	SMITH-LEMLI-OPITZ SYNDROME; SLOS	TRUE
OMIM	270450	INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO; IGF1RES	TRUE
OMIM	270460	SONODA SYNDROME	TRUE
OMIM	270700	SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15	TRUE
OMIM	270700	SPASTIC PARAPLEGIA AND RETINAL DEGENERATION	FALSE
OMIM	270700	KJELLIN SYNDROME	FALSE
OMIM	271520	SPONDYLOCOSTAL DYSOSTOSIS WITH ANAL ATRESIA AND UROGENITAL ANOMALIES	TRUE
OMIM	271640	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES; SEMDJL1	TRUE
OMIM	271650	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE	TRUE
OMIM	271665	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	TRUE
OMIM	271700	SPONDYLOPERIPHERAL DYSPLASIA	TRUE
OMIM	271960	SUBAORTIC STENOSIS--SHORT STATURE SYNDROME	TRUE
OMIM	271960	ONAT SYNDROME	FALSE
OMIM	272460	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; SCT	TRUE
OMIM	273050	TEETH, NONERUPTION OF, WITH MAXILLARY HYPOPLASIA AND GENU VALGUM	TRUE
OMIM	273250	TESTICULAR REGRESSION SYNDROME	TRUE
OMIM	273390	TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES	TRUE
OMIM	273395	TETRAAMELIA, AUTOSOMAL RECESSIVE	TRUE
OMIM	273800	Glanzmann thrombasthenia	TRUE
OMIM	274150	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP	TRUE
OMIM	274150	MICROANGIOPATHIC HEMOLYTIC ANEMIA	FALSE
OMIM	274150	THROMBOTIC MICROANGIOPATHY, FAMILIAL	FALSE
OMIM	274150	UPSHAW-SCHULMAN SYNDROME; USS	FALSE
OMIM	274150	SCHULMAN-UPSHAW SYNDROME	FALSE
OMIM	274150	UPSHAW FACTOR, DEFICIENCY OF	FALSE
OMIM	274150	MICROANGIOPATHIC HEMOLYTIC ANEMIA, CONGENITAL	FALSE
OMIM	274150	THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL	FALSE
OMIM	274190	THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY	TRUE
OMIM	275210	RESTRICTIVE DERMOPATHY, LETHAL	TRUE
OMIM	275350	TRANSCOBALAMIN II DEFICIENCY	TRUE
OMIM	275350	TC II DEFICIENCY	FALSE
OMIM	275350	TCN2 DEFICIENCY	FALSE
OMIM	275595	TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIESOF THE HANDS AND FEET	TRUE
OMIM	276300	MISMATCH REPAIR CANCER SYNDROME; MMRCS	TRUE
OMIM	276820	ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY	TRUE
OMIM	276820	LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME; LPHAS	FALSE
OMIM	276820	AL-AWADI/RAAS-ROTHSCHILD SYNDROME; AARRS	FALSE
OMIM	276820	SCHINZEL PHOCOMELIA SYNDROME	FALSE
OMIM	276904	USHER SYNDROME, TYPE IC	TRUE
OMIM	277380	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE	TRUE
OMIM	277400	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; MAHCC	TRUE
OMIM	277410	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE	TRUE
OMIM	277440	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	TRUE
OMIM	277590	WEAVER SYNDROME	TRUE
OMIM	277600	WEILL-MARCHESANI SYNDROME 1; WMS1	TRUE
OMIM	277720	WHISTLING FACE SYNDROME, RECESSIVE FORM	TRUE
OMIM	278250	WRINKLY SKIN SYNDROME; WSS	TRUE
OMIM	278300	XANTHINURIA, TYPE I	TRUE
OMIM	278760	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF	TRUE
OMIM	300076	IMMUNONEUROLOGIC DISORDER, X-LINKED	TRUE
OMIM	300106	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED	TRUE
OMIM	300106	SEMD, X-LINKED; SEMDX	FALSE
OMIM	300125	MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2	TRUE
OMIM	300166	MICROPHTHALMIA, SYNDROMIC 2; MCOPS2	TRUE
OMIM	300209	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2	TRUE
OMIM	300216	Coats disease	TRUE
OMIM	300245	PTOSIS, HEREDITARY CONGENITAL 2	TRUE
OMIM	300245	PTOS2	FALSE
OMIM	300245	PTOSIS, X-LINKED; PTOSX	FALSE
OMIM	300257	DANON DISEASE	TRUE
OMIM	300257	VACUOLAR CARDIOMYOPATHY AND MYOPATHY, X-LINKED	FALSE
OMIM	300257	PSEUDOGLYCOGENOSIS II	FALSE
OMIM	300257	ANTOPOL DISEASE	FALSE
OMIM	300257	LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY,FORMERLY	FALSE
OMIM	300257	GLYCOGEN STORAGE DISEASE IIb; GSD2B, FORMERLY	FALSE
OMIM	300257	GSD IIb, FORMERLY	FALSE
OMIM	300266	SPASTIC PARAPLEGIA 16, X-LINKED	TRUE
OMIM	300273	GOITER, MULTINODULAR 2	TRUE
OMIM	300280	URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU	TRUE
OMIM	300322	LESCH-NYHAN SYNDROME; LNS	TRUE
OMIM	300323	GOUT, HPRT-RELATED	TRUE
OMIM	300337	HYPOMELANOSIS OF ITO; HMI	TRUE
OMIM	300337	INCONTINENTIA PIGMENTI ACHROMIANS; IPA	FALSE
OMIM	300337	ITO HYPOMELANOSIS; ITO	FALSE
OMIM	300337	INCONTINENTIA PIGMENTI, TYPE I, FORMERLY; IP1, FORMERLY	FALSE
OMIM	300354	MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC	TRUE
OMIM	300367	THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA;XLTDA	TRUE
OMIM	300428	MENTAL RETARDATION, X-LINKED 2	TRUE
OMIM	300431	ATKIN-FLAITZ SYNDROME	TRUE
OMIM	300489	SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3	TRUE
OMIM	300494	ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1; ASPGX1	TRUE
OMIM	300497	ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2; ASPGX2	TRUE
OMIM	300500	ALBINISM, OCULAR, TYPE I	TRUE
OMIM	300523	ALLAN-HERNDON-DUDLEY SYNDROME	TRUE
OMIM	300534	MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ	TRUE
OMIM	300534	MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED; MRXSJ	FALSE
OMIM	300589	NYSTAGMUS 5, CONGENITAL, X-LINKED; NYS5	TRUE
OMIM	300602	CLARK-BARAITSER SYNDROME	TRUE
OMIM	300614	DEAFNESS, X-LINKED 5; DFNX5	TRUE
OMIM	300622	TN POLYAGGLUTINATION SYNDROME; TNPS	TRUE
OMIM	300622	GALACTOSYLTRANSFERASE DEFICIENCY	FALSE
OMIM	300624	FRAGILE X MENTAL RETARDATION SYNDROME	TRUE
OMIM	300650	ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS	TRUE
OMIM	300661	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY	TRUE
OMIM	300755	AGAMMAGLOBULINEMIA, X-LINKED; XLA	TRUE
OMIM	300755	BRUTON-TYPE AGAMMAGLOBULINEMIA	FALSE
OMIM	300755	AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1; AGMX1	FALSE
OMIM	300755	IMMUNODEFICIENCY 1; IMD1HYPOGAMMAGLOBULINEMIA, X-LINKED, INCLUDED	FALSE
OMIM	300758	HYPOSPADIAS 2, X-LINKED; HYSP2	TRUE
OMIM	300814	NYSTAGMUS 6, CONGENITAL, X-LINKED; NYS6	TRUE
OMIM	300835	ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES;XLANP	TRUE
OMIM	300845	MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM,AND FACIAL DYSMORPHISM; MYMY4	TRUE
OMIM	300845	CHROMOSOME XQ28 DELETION SYNDROME, 3.4-KB	FALSE
OMIM	300845	SYNDROMIC MOYAMOYA DISEASE	FALSE
OMIM	300864	CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED	TRUE
OMIM	300867	KABUKI SYNDROME 2; KABUK2	TRUE
OMIM	300868	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2	TRUE
OMIM	300894	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5	TRUE
OMIM	300894	BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION; BPAN	FALSE
OMIM	300894	STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD;SENDA	FALSE
OMIM	300896	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M	TRUE
OMIM	300952	LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3	TRUE
OMIM	300971	BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT	TRUE
OMIM	301000	WISKOTT-ALDRICH SYNDROME; WAS	TRUE
OMIM	301000	WISKOTT-ALDRICH SYNDROME 1; WAS1	FALSE
OMIM	301000	ALDRICH SYNDROME	FALSE
OMIM	301000	ECZEMA-THROMBOCYTOPENIA-IMMUNODEFICIENCY SYNDROME	FALSE
OMIM	301000	IMMUNODEFICIENCY 2; IMD2	FALSE
OMIM	301050	ALPORT SYNDROME, X-LINKED; ATS	TRUE
OMIM	301500	Fabry disease	TRUE
OMIM	302060	BARTH SYNDROME; BTHS	TRUE
OMIM	302350	NANCE-HORAN SYNDROME	TRUE
OMIM	302800	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1	TRUE
OMIM	302800	CMTX	FALSE
OMIM	302800	CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED	FALSE
OMIM	302800	HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED	FALSE
OMIM	302800	HMSN, X-LINKED	FALSE
OMIM	302800	CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1	FALSE
OMIM	302800	CMT2, FORMERLY	FALSE
OMIM	302900	CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA,COMBINED	TRUE
OMIM	302950	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE	TRUE
OMIM	303600	COFFIN-LOWRY SYNDROME; CLS	TRUE
OMIM	304050	AICARDI SYNDROME; AIC	TRUE
OMIM	304110	CRANIOFRONTONASAL SYNDROME; CFNS	TRUE
OMIM	304120	OTOPALATODIGITAL SYNDROME, TYPE II; OPD2	TRUE
OMIM	304120	OPD II SYNDROME	FALSE
OMIM	304120	OPD SYNDROME 2	FALSE
OMIM	304120	CRANIOORODIGITAL SYNDROME	FALSE
OMIM	304120	FACIOPALATOOSSEOUS SYNDROME; FPO	FALSE
OMIM	304150	OCCIPITAL HORN SYNDROME; OHS	TRUE
OMIM	304150	CUTIS LAXA, X-LINKED, FORMERLY	FALSE
OMIM	304150	EHLERS-DANLOS SYNDROME, OCCIPITAL HORN TYPE, FORMERLY	FALSE
OMIM	304150	EDS IX, FORMERLY	FALSE
OMIM	304150	EDS9, FORMERLY	FALSE
OMIM	304400	DEAFNESS, X-LINKED 2	TRUE
OMIM	304800	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	TRUE
OMIM	304900	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE	TRUE
OMIM	305000	DYSKERATOSIS CONGENITA, X-LINKED; DKCX	TRUE
OMIM	305100	ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED	TRUE
OMIM	305390	EXUDATIVE VITREORETINOPATHY 2, X-LINKED; EVR2	TRUE
OMIM	305390	EXUDATIVE VITREORETINOPATHY, FAMILIAL, 2	FALSE
OMIM	305390	EVRX	FALSE
OMIM	305390	FEVR, X-LINKED; FEVRX	FALSE
OMIM	305400	Aarskog-Scott syndrome	TRUE
OMIM	305600	FOCAL DERMAL HYPOPLASIA; FDH	TRUE
OMIM	305700	SERTOLI CELL-ONLY SYNDROME	TRUE
OMIM	305800	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, X-LINKED	TRUE
OMIM	306955	HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1	TRUE
OMIM	307200	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3	TRUE
OMIM	307200	IGHD III	FALSE
OMIM	307200	GROWTH HORMONE DEFICIENCY WITH HYPOGAMMAGLOBULINEMIA	FALSE
OMIM	307200	HYPOGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED	FALSE
OMIM	307200	AGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED	FALSE
OMIM	307200	FLEISHER SYNDROME	FALSE
OMIM	308050	CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS	TRUE
OMIM	308280	IMPACTED TEETH, MULTIPLE	TRUE
OMIM	308500	IRIS HYPOPLASIA WITH GLAUCOMA; IHG	TRUE
OMIM	308700	HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1	TRUE
OMIM	308750	KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA	TRUE
OMIM	308800	KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED; KFSDX	TRUE
OMIM	308905	LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO	TRUE
OMIM	308940	LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME; DL-ATS	TRUE
OMIM	308940	LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY	FALSE
OMIM	308940	ALPORT SYNDROME AND DIFFUSE LEIOMYOMATOSIS; ATS-DL	FALSE
OMIM	308940	CHROMOSOME Xq22.3 CENTROMERIC DELETION SYNDROME	FALSE
OMIM	309000	LOWE OCULOCEREBRORENAL SYNDROME	TRUE
OMIM	309300	MEGALOCORNEA	TRUE
OMIM	309350	MELNICK-NEEDLES SYNDROME	TRUE
OMIM	309500	RENPENNING SYNDROME 1; RENS1	TRUE
OMIM	309541	METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE	TRUE
OMIM	309545	MENTAL RETARDATION, X-LINKED, SYNDROMIC 12; MRXS12	TRUE
OMIM	309580	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1	TRUE
OMIM	309800	MICROPHTHALMIA, SYNDROMIC 1	TRUE
OMIM	309900	MUCOPOLYSACCHARIDOSIS, TYPE II	TRUE
OMIM	310300	EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1	TRUE
OMIM	310600	NORRIE DISEASE; ND	TRUE
OMIM	310600	ATROPHIA BULBORUM HEREDITARIA	FALSE
OMIM	310600	EPISKOPI BLINDNESS	FALSE
OMIM	311200	OROFACIODIGITAL SYNDROME I; OFD1	TRUE
OMIM	311250	ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO	TRUE
OMIM	311250	ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY	FALSE
OMIM	311250	OTC DEFICIENCYVALPROATE SENSITIVITY, INCLUDED	FALSE
OMIM	311300	OTOPALATODIGITAL SYNDROME, TYPE I; OPD1	TRUE
OMIM	311300	OPD I SYNDROME	FALSE
OMIM	311300	OPD SYNDROME 1OTOPALATODIGITAL SPECTRUM DISORDER, INCLUDED	FALSE
OMIM	311300	FRONTOOTOPALATODIGITAL OSTEODYSPLASIA, INCLUDED	FALSE
OMIM	311450	PALLISTER W SYNDROME	TRUE
OMIM	311450	W SYNDROME	FALSE
OMIM	311900	TARP SYNDROME; TARPS	TRUE
OMIM	312000	PANHYPOPITUITARISM, X-LINKED	TRUE
OMIM	312080	PELIZAEUS-MERZBACHER DISEASE	TRUE
OMIM	312150	MULTIPLE PTERYGIUM SYNDROME, X-LINKED	TRUE
OMIM	312150	PTERYGIUM SYNDROME, MULTIPLE, X-LINKED	FALSE
OMIM	312170	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD	TRUE
OMIM	312550	RETINAL DYSPLASIA, PRIMARY	TRUE
OMIM	312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	TRUE
OMIM	313850	THORACOABDOMINAL SYNDROME	TRUE
OMIM	313900	THROMBOCYTOPENIA 1	TRUE
OMIM	314320	TRIGONOCEPHALY WITH SHORT STATURE AND DEVELOPMENTAL DELAY	TRUE
OMIM	314390	VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX	TRUE
OMIM	314600	WILDERVANCK SYNDROME	TRUE
OMIM	400003	DELETED IN AZOOSPERMIA	TRUE
OMIM	400043	DEAFNESS, Y-LINKED 1	TRUE
OMIM	400045	46,XX SEX REVERSAL 1; SRXX1	TRUE
OMIM	400047	DEAFNESS, Y-LINKED 2; DFNY2	TRUE
OMIM	415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	TRUE
OMIM	424500	GONADOBLASTOMA	TRUE
OMIM	475000	GROWTH CONTROL, Y-CHROMOSOME INFLUENCED	TRUE
OMIM	500001	LEBER OPTIC ATROPHY AND DYSTONIA	TRUE
OMIM	530000	KEARNS-SAYRE SYNDROME; KSS	TRUE
OMIM	535000	LEBER OPTIC ATROPHY	TRUE
OMIM	535000	LEBER HEREDITARY OPTIC NEUROPATHY; LHON	FALSE
OMIM	600081	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B	TRUE
OMIM	600089	PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS	TRUE
OMIM	600096	PUERTO RICAN INFANT HYPOTONIA SYNDROME	TRUE
OMIM	600118	WARBURG MICRO SYNDROME 1	TRUE
OMIM	600142	CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CARASIL	TRUE
OMIM	600143	CEROID LIPOFUSCINOSIS, NEURONAL, 8	TRUE
OMIM	600224	SPINOCEREBELLAR ATAXIA 5; SCA5	TRUE
OMIM	600257	BOR-DUANE HYDROCEPHALUS CONTIGUOUS GENE SYNDROME	TRUE
OMIM	600268	OCULOECTODERMAL SYNDROME; OES	TRUE
OMIM	600274	FRONTOTEMPORAL DEMENTIA; FTD	TRUE
OMIM	600302	FRYNS MACROCEPHALY	TRUE
OMIM	600302	MACROCEPHALY WITH SPASTIC PARAPLEGIA AND DISTINCTIVE CRANIOFACIALAPPEARANCE	FALSE
OMIM	600376	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2	TRUE
OMIM	600383	MESOMELIA-SYNOSTOSES SYNDROME	TRUE
OMIM	600384	APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSALIV	TRUE
OMIM	600419	ANGIOKERATOMA CORPORIS DIFFUSUM WITH ARTERIOVENOUS FISTULAS	TRUE
OMIM	600638	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULARINVOLVEMENT; CFEOM3A	TRUE
OMIM	600638	FEOM3 LOCUS	FALSE
OMIM	600649	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE	TRUE
OMIM	600679	DERMOID CYSTS, FAMILIAL FRONTONASAL	TRUE
OMIM	600790	CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL	TRUE
OMIM	600791	ENLARGED VESTIBULAR AQUEDUCT	TRUE
OMIM	600795	FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3	TRUE
OMIM	600858	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6; CMH6	TRUE
OMIM	600882	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B	TRUE
OMIM	600901	FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE	TRUE
OMIM	600903	WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM	TRUE
OMIM	600920	VAN DEN ENDE-GUPTA SYNDROME; VDEGS	TRUE
OMIM	600969	EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3	TRUE
OMIM	601027	TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES	TRUE
OMIM	601068	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1; FAME1	TRUE
OMIM	601104	SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1	TRUE
OMIM	601163	DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL	TRUE
OMIM	601186	MICROPHTHALMIA, SYNDROMIC 9; MCOPS9	TRUE
OMIM	601202	CATARACT, ANTERIOR POLAR, 2	TRUE
OMIM	601321	NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS	TRUE
OMIM	601353	BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION	TRUE
OMIM	601376	CHONDRODYSPLASIA, LETHAL, WITH LONG BONE ANGULATION AND MIXED BONE DENSITY	TRUE
OMIM	601389	CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION	TRUE
OMIM	601419	MYOPATHY, MYOFIBRILLAR, 1; MFM1	TRUE
OMIM	601449	DEAFNESS, PROGRESSIVE, WITH STAPES FIXATION	TRUE
OMIM	601453	TRICHODENTAL DYSPLASIA	TRUE
OMIM	601457	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE	TRUE
OMIM	601492	MUCOPOLYSACCHARIDOSIS TYPE IX	TRUE
OMIM	601549	ALACRIMA	TRUE
OMIM	601552	FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS; FDLAB	TRUE
OMIM	601559	STUVE-WIEDEMANN SYNDROME	TRUE
OMIM	601596	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C	TRUE
OMIM	601631	ANTERIOR SEGMENT DYSGENESIS 3	TRUE
OMIM	601650	PARAGANGLIOMAS 2	TRUE
OMIM	601678	BARTTER SYNDROME, TYPE 1, ANTENATAL	TRUE
OMIM	601701	ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA	TRUE
OMIM	601707	CURRY-JONES SYNDROME	TRUE
OMIM	601780	CEROID LIPOFUSCINOSIS, NEURONAL, 6	TRUE
OMIM	601803	PALLISTER-KILLIAN SYNDROME	TRUE
OMIM	601809	SPONDYLOSPINAL THORACIC DYSOSTOSIS	TRUE
OMIM	601813	EXUDATIVE VITREORETINOPATHY 4	TRUE
OMIM	601957	ODONTOTRICHOUNGUAL-DIGITAL-PALMAR SYNDROME	TRUE
OMIM	601957	OTUDP SYNDROME	FALSE
OMIM	601992	FRIEDREICH ATAXIA 2; FRDA2	TRUE
OMIM	602078	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2	TRUE
OMIM	602114	NEPHROPATHY, PROGRESSIVE TUBULOINTERSTITIAL, WITH CHOLESTATIC LIVERDISEASE	TRUE
OMIM	602196	PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES	TRUE
OMIM	602248	MALIGNANT ATROPHIC PAPULOSIS	TRUE
OMIM	602248	DEGOS DISEASE	FALSE
OMIM	602248	PAPULOSIS, MALIGNANT ATROPHIC	FALSE
OMIM	602342	Pierpont syndrome	TRUE
OMIM	602433	AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4	TRUE
OMIM	602433	NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES	FALSE
OMIM	602475	OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL	TRUE
OMIM	602481	MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2	TRUE
OMIM	602522	BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS	TRUE
OMIM	602531	GRANGE SYNDROME; GRNG	TRUE
OMIM	602579	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B	TRUE
OMIM	602629	DYSTONIA 6, TORSION	TRUE
OMIM	602849	Muenke syndrome	TRUE
OMIM	602875	ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDMST. HELENA DYSPLASIA, INCLUDED	TRUE
OMIM	603147	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C	TRUE
OMIM	603165	DERMATITIS, ATOPIC	TRUE
OMIM	603285	CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3	TRUE
OMIM	603543	LIMB-MAMMARY SYNDROME; LMS	TRUE
OMIM	603671	ACROMELIC FRONTONASAL DYSOSTOSIS; AFND	TRUE
OMIM	603860	MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2	TRUE
OMIM	603860	MEDULLARY CYSTIC KIDNEY DISEASE 2, AUTOSOMAL DOMINANT; ADMCKD2	FALSE
OMIM	604121	CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN	TRUE
OMIM	604278	RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTALRETARDATION	TRUE
OMIM	604292	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3	TRUE
OMIM	604314	BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION	TRUE
OMIM	604320	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1	TRUE
OMIM	604326	SPINOCEREBELLAR ATAXIA 12	TRUE
OMIM	604387	NEPHRONOPHTHISIS 3; NPHP3	TRUE
OMIM	604387	NPH3	FALSE
OMIM	604416	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	TRUE
OMIM	604563	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2	TRUE
OMIM	605282	Temtamy preaxial brachydactyly syndrome	TRUE
OMIM	605289	SPLIT-HAND/FOOT MALFORMATION 4; SHFM4	TRUE
OMIM	605321	FRONTOOCULAR SYNDROME	TRUE
OMIM	605361	SPINOCEREBELLAR ATAXIA 14	TRUE
OMIM	605373	PARAGANGLIOMAS 3	TRUE
OMIM	605419	SCHIZOPHRENIA 10	TRUE
OMIM	605432	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA	TRUE
OMIM	605627	CEREBROOCULONASAL SYNDROME	TRUE
OMIM	605750	EXUDATIVE VITREORETINOPATHY 3; EVR3	TRUE
OMIM	605899	GLYCINE ENCEPHALOPATHY; GCE	TRUE
OMIM	606054	PROPIONIC ACIDEMIA	TRUE
OMIM	606156	SENER SYNDROME	TRUE
OMIM	606156	FRONTONASAL DYSPLASIA AND DILATED VIRCHOW-ROBIN SPACES	FALSE
OMIM	606164	DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15	TRUE
OMIM	606232	PHELAN-MCDERMID SYNDROME; PHMDS	TRUE
OMIM	606242	MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,AND FACIAL DYSMORPHISM	TRUE
OMIM	606242	KONDOH SYNDROME	FALSE
OMIM	606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	TRUE
OMIM	606353	PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ	TRUE
OMIM	606482	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; CMTDIB	TRUE
OMIM	606552	EPISODIC ATAXIA, TYPE 4	TRUE
OMIM	606595	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F; CMT2F	TRUE
OMIM	606693	KUFOR-RAKEB SYNDROME	TRUE
OMIM	606703	DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM	TRUE
OMIM	606764	GASTROINTESTINAL STROMAL TUMOR; GIST	TRUE
OMIM	606772	MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKINANOMALIES	TRUE
OMIM	606772	MOMES SYNDROME	FALSE
OMIM	606812	FUMARASE DEFICIENCY; FMRD	TRUE
OMIM	606824	GLUCOSE/GALACTOSE MALABSORPTION; GGM	TRUE
OMIM	606835	DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; FDAB	TRUE
OMIM	606895	SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWEDZYGOMATIC ARCH	TRUE
OMIM	606966	NEPHRONOPHTHISIS 4	TRUE
OMIM	606995	SENIOR-LOKEN SYNDROME 3	TRUE
OMIM	606996	SENIOR-LOKEN SYNDROME 4; SLSN4	TRUE
OMIM	607136	SPINOCEREBELLAR ATAXIA 17; SCA17	TRUE
OMIM	607136	HUNTINGTON DISEASE-LIKE 4; HDL4	FALSE
OMIM	607323	DUANE-RADIAL RAY SYNDROME; DRRS	TRUE
OMIM	607330	LATHOSTEROLOSIS	TRUE
OMIM	607364	BARTTER SYNDROME, TYPE 3	TRUE
OMIM	607364	BARTTER SYNDROME, CLASSICBARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA, INCLUDED	FALSE
OMIM	607373	AUTISM, SUSCEPTIBILITY TO, 8; AUTS8	TRUE
OMIM	607485	FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED	TRUE
OMIM	607498	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3	TRUE
OMIM	607501	MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO, 4	TRUE
OMIM	607508	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 5	TRUE
OMIM	607516	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6	TRUE
OMIM	607541	CORNEAL DYSTROPHY, AVELLINO TYPE; CDA	TRUE
OMIM	607541	ACD	FALSE
OMIM	607541	AVELLINO CORNEAL DYSTROPHY	FALSE
OMIM	607541	COMBINED GRANULAR-LATTICE CORNEAL DYSTROPHY	FALSE
OMIM	607541	GRANULAR CORNEAL DYSTROPHY, TYPE II; CGD2	FALSE
OMIM	607554	ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3	TRUE
OMIM	607616	NIEMANN-PICK DISEASE, TYPE B	TRUE
OMIM	607624	GRISCELLI SYNDROME, TYPE 2; GS2	TRUE
OMIM	607625	NIEMANN-PICK DISEASE, TYPE C2	TRUE
OMIM	607636	VAN BUCHEM DISEASE, TYPE 2	TRUE
OMIM	607684	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E; CMT2E	TRUE
OMIM	607778	ACROCAPITOFEMORAL DYSPLASIA; ACFD	TRUE
OMIM	607872	CHROMOSOME 1P36 DELETION SYNDROME	TRUE
OMIM	607876	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2	TRUE
OMIM	607876	BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 2; BAFME2	FALSE
OMIM	607876	CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 2; FCMTE2	FALSE
OMIM	607876	CORTICAL MYOCLONUS AND EPILEPSY, AUTOSOMAL DOMINANT; ADCME	FALSE
OMIM	607932	MICROPHTHALMIA, SYNDROMIC 6; MCOPS6	TRUE
OMIM	608028	THAI SYMPHALANGISM SYNDROME	TRUE
OMIM	608049	AUTISM, SUSCEPTIBILITY TO, 3; AUTS3	TRUE
OMIM	608091	JOUBERT SYNDROME 2	TRUE
OMIM	608106	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5	TRUE
OMIM	608106	HYPER-IgM SYNDROME 5	FALSE
OMIM	608180	SYNPOLYDACTYLY 2	TRUE
OMIM	608328	WEILL-MARCHESANI SYNDROME 2; WMS2	TRUE
OMIM	608340	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A; CMTRIA	TRUE
OMIM	608340	CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE A	FALSE
OMIM	608340	RI-CMTA	FALSE
OMIM	608406	VATER-LIKE DEFECTS WITH PULMONARY HYPERTENSION, LARYNGEAL WEBS, AND GROWTH DEFICIENCY	TRUE
OMIM	608471	CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A	TRUE
OMIM	608471	LATTICE CORNEAL DYSTROPHY, TYPE IIIA	FALSE
OMIM	608540	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K	TRUE
OMIM	608553	LEBER CONGENITAL AMAUROSIS 9; LCA9	TRUE
OMIM	608572	BURN-MCKEOWN SYNDROME	TRUE
OMIM	608583	ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1	TRUE
OMIM	608594	Lipodystrophy, congenital generalized, type 1	TRUE
OMIM	608600	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 1	TRUE
OMIM	608612	MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB	TRUE
OMIM	608631	ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2; ASPG2	TRUE
OMIM	608636	CHROMOSOME 15q11-q13 DUPLICATION SYNDROME	TRUE
OMIM	608638	ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1; ASPG1	TRUE
OMIM	608643	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	TRUE
OMIM	608688	AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY	TRUE
OMIM	608703	SPINOCEREBELLAR ATAXIA 25; SCA25	TRUE
OMIM	608709	LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO; APLD	TRUE
OMIM	608709	APLD, SUSCEPTIBILITY TO	FALSE
OMIM	608709	BARRAQUER-SIMONS SYNDROME	FALSE
OMIM	608709	LIPODYSTROPHY, CEPHALOTHORACIC TYPE	FALSE
OMIM	608709	LIPODYSTROPHY, PARTIAL, PROGRESSIVE	FALSE
OMIM	608720	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA	TRUE
OMIM	608728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED	TRUE
OMIM	608728	SEMD, MATN3-RELATED	FALSE
OMIM	608758	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10	TRUE
OMIM	608763	EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE	TRUE
OMIM	608804	LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2	TRUE
OMIM	608804	PELIZAEUS-MERZBACHER-LIKE DISEASE, 1; PMLD1	FALSE
OMIM	608836	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL	TRUE
OMIM	608836	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL	FALSE
OMIM	608836	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL	FALSE
OMIM	608836	CPT II DEFICIENCY, LETHAL NEONATAL	FALSE
OMIM	608836	CPT2 DEFICIENCY, LETHAL NEONATAL	FALSE
OMIM	608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3	TRUE
OMIM	608898	HPLH3	FALSE
OMIM	608898	HLH3	FALSE
OMIM	608940	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; SMDCRD	TRUE
OMIM	609015	MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD	TRUE
OMIM	609039	NARCOLEPSY 3; NRCLP3	TRUE
OMIM	609048	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3	TRUE
OMIM	609052	SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4	TRUE
OMIM	609128	ARTHROGRYPOSIS, DISTAL, TYPE 4; DA4	TRUE
OMIM	609129	AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1	TRUE
OMIM	609218	FOVEAL HYPOPLASIA 2; FVH2	TRUE
OMIM	609227	GRISCELLI SYNDROME, TYPE 3; GS3	TRUE
OMIM	609242	KANZAKI DISEASE	TRUE
OMIM	609242	ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE II	FALSE
OMIM	609242	ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, ADULT-ONSET	FALSE
OMIM	609242	NAGA DEFICIENCY, TYPE II	FALSE
OMIM	609242	SCHINDLER DISEASE, TYPE II	FALSE
OMIM	609306	SPINOCEREBELLAR ATAXIA 26	TRUE
OMIM	609384	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B	TRUE
OMIM	609428	TUKEL SYNDROME	TRUE
OMIM	609454	SUPRANUCLEAR PALSY, PROGRESSIVE, 2; PSNP2	TRUE
OMIM	609524	FILAMINOPATHY, AUTOSOMAL DOMINANT	TRUE
OMIM	609536	COMPLEMENT COMPONENT 5 DEFICIENCY; C5D	TRUE
OMIM	609536	C5 DEFICIENCY	FALSE
OMIM	609616	SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATECALCIFICATIONS, AND DEAFNESS	TRUE
OMIM	609625	CHROMOSOME 10Q26 DELETION SYNDROME	TRUE
OMIM	609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA	TRUE
OMIM	609727	SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT	TRUE
OMIM	609820	ERYTHROCYTOSIS, FAMILIAL, 3	TRUE
OMIM	609944	ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVE FACIAL FEATURES	TRUE
OMIM	610003	CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT	TRUE
OMIM	610031	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7	TRUE
OMIM	610090	PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY	TRUE
OMIM	610127	CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10	TRUE
OMIM	610127	CEROID LIPOFUSCINOSIS, NEURONAL, CATHEPSIN D-DEFICIENT	FALSE
OMIM	610127	NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCYNEURONAL CEROID LIPOFUSCINOSIS, CONGENITAL, INCLUDED	FALSE
OMIM	610168	LOEYS-DIETZ SYNDROME 2; LDS2	TRUE
OMIM	610168	AORTIC ANEURYSM, FAMILIAL THORACIC 3; AAT3	FALSE
OMIM	610168	MARFAN SYNDROME, TYPE II, FORMERLY	FALSE
OMIM	610188	JOUBERT SYNDROME 5	TRUE
OMIM	610208	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 10	TRUE
OMIM	610209	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 11	TRUE
OMIM	610251	ALCOHOL SENSITIVITY, ACUTE	TRUE
OMIM	610253	KLEEFSTRA SYNDROME	TRUE
OMIM	610443	KOOLEN-DE VRIES SYNDROME; KDVS	TRUE
OMIM	610475	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2	TRUE
OMIM	610489	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1	TRUE
OMIM	610504	PRETERM PREMATURE RUPTURE OF THE MEMBRANES; PPROM	TRUE
OMIM	610543	CHROMOSOME 16p13.3 DELETION SYNDROME	TRUE
OMIM	610655	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 4; HHT4	TRUE
OMIM	610708	OPTIC ATROPHY 5; OPA5	TRUE
OMIM	610733	NOONAN SYNDROME 4; NS4	TRUE
OMIM	610753	ALOPECIA AREATA 2; AA2	TRUE
OMIM	610828	HOLOPROSENCEPHALY 7	TRUE
OMIM	610829	HOLOPROSENCEPHALY 9; HPE9	TRUE
OMIM	610829	PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES	FALSE
OMIM	610829	HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES	FALSE
OMIM	610954	PITT-HOPKINS SYNDROME	TRUE
OMIM	611131	RETINITIS PIGMENTOSA 37; RP37	TRUE
OMIM	611182	Congenital disorder of glycosylation, type IIh	TRUE
OMIM	611377	BRACHYDACTYLY, TYPE B2	TRUE
OMIM	611431	LEGIUS SYNDROME	TRUE
OMIM	611719	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5	TRUE
OMIM	611773	ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS	TRUE
OMIM	611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4	TRUE
OMIM	611881	GLYCOGEN STORAGE DISEASE XII; GSD12	TRUE
OMIM	611881	GSD XII	FALSE
OMIM	611881	ALDOLASE A DEFICIENCY	FALSE
OMIM	611881	ALDOA DEFICIENCY	FALSE
OMIM	611881	ALDOLASE DEFICIENCY, RED CELL	FALSE
OMIM	611881	RED CELL ALDOLASE DEFICIENCY	FALSE
OMIM	611926	IMMUNODEFICIENCY, OVARIAN DYSGENESIS, AND PULMONARY FIBROSIS	TRUE
OMIM	611962	HUNTER-MACDONALD SYNDROME	TRUE
OMIM	612089	HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM	TRUE
OMIM	612164	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	TRUE
OMIM	612284	MECKEL SYNDROME, TYPE 6; MKS6	TRUE
OMIM	612310	PREMATURE OVARIAN FAILURE 6; POF6	TRUE
OMIM	612336	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL	TRUE
OMIM	612350	SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE	TRUE
OMIM	612359	COWDEN-LIKE SYNDROME	TRUE
OMIM	612416	FACTOR XI DEFICIENCY	TRUE
OMIM	612416	F11 DEFICIENCY	FALSE
OMIM	612416	PLASMA THROMBOPLASTIN ANTECEDENT DEFICIENCY	FALSE
OMIM	612416	PTA DEFICIENCY	FALSE
OMIM	612416	ROSENTHAL SYNDROME	FALSE
OMIM	612582	CHROMOSOME 6PTER-P24 DELETION SYNDROME	TRUE
OMIM	612726	HARDIKAR SYNDROME	TRUE
OMIM	612740	PORPHYRIA, ACUTE HEPATIC	TRUE
OMIM	612780	SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE	TRUE
OMIM	612840	LEUKOCYTE ADHESION DEFICIENCY, TYPE III	TRUE
OMIM	612843	KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT; KFSD	TRUE
OMIM	612936	SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50	TRUE
OMIM	612936	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3, FORMERLY; CPSQ3, FORMERLY	FALSE
OMIM	612951	LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY	TRUE
OMIM	612961	MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3	TRUE
OMIM	612964	PREMATURE OVARIAN FAILURE 7	TRUE
OMIM	612965	46,XY SEX REVERSAL 3	TRUE
OMIM	613001	ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL	TRUE
OMIM	613070	LIVER FAILURE, INFANTILE, TRANSIENT	TRUE
OMIM	613090	BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS	TRUE
OMIM	613115	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B	TRUE
OMIM	613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28	TRUE
OMIM	613159	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1	TRUE
OMIM	613217	DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5	TRUE
OMIM	613217	ENTEROPATHY, CONGENITAL TUFTING; CTE	FALSE
OMIM	613217	INTESTINAL EPITHELIAL CELL DYSPLASIA	FALSE
OMIM	613310	EXUDATIVE VITREORETINOPATHY 5; EVR5	TRUE
OMIM	613327	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4	TRUE
OMIM	613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10	TRUE
OMIM	613406	WITTEVEEN-KOLK SYNDROME	TRUE
OMIM	613428	RETINITIS PIGMENTOSA 54; RP54	TRUE
OMIM	613451	FRONTONASAL DYSPLASIA 2; FND2	TRUE
OMIM	613470	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASEDEFICIENCY	TRUE
OMIM	613471	REYNOLDS SYNDROME	TRUE
OMIM	613550	NEPHRONOPHTHISIS 11; NPHP11	TRUE
OMIM	613573	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1	TRUE
OMIM	613608	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3; FAME3	TRUE
OMIM	613608	CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 3; FCMTE3	FALSE
OMIM	613627	BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION	TRUE
OMIM	613627	TSUKAHARA SYNDROME	FALSE
OMIM	613630	COCOON SYNDROME	TRUE
OMIM	613630	FETAL ENCASEMENT SYNDROME	FALSE
OMIM	613640	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C	TRUE
OMIM	613652	C1q DEFICIENCY; C1QD	TRUE
OMIM	613675	CHROMOSOME 17Q11.2 DELETION SYNDROME, 1.4-MB	TRUE
OMIM	613706	NOONAN SYNDROME 7; NS7	TRUE
OMIM	613707	LEOPARD SYNDROME 3; LPRD3	TRUE
OMIM	613708	NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D	TRUE
OMIM	613744	SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51	TRUE
OMIM	613744	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 4, FORMERLY; CPSQ4, FORMERLY	FALSE
OMIM	613763	CATARACT, POSTERIOR POLAR, 2; CTPP2CATARACT, CONGENITAL LAMELLAR, INCLUDED	TRUE
OMIM	613763	CATARACT, JUVENILE, AUTOSOMAL RECESSIVE, INCLUDED	FALSE
OMIM	613779	COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE; C3D	TRUE
OMIM	613795	LOEYS-DIETZ SYNDROME 3; LDS3	TRUE
OMIM	613803	MEIER-GORLIN SYNDROME 3; MGORS3	TRUE
OMIM	613838	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16; CMH16	TRUE
OMIM	613854	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6; CHTD6	TRUE
OMIM	613873	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17; CMH17	TRUE
OMIM	613875	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 19; CMH19	TRUE
OMIM	613908	SPINOCEREBELLAR ATAXIA 35; SCA35	TRUE
OMIM	613913	LIPODYSTROPHY, PARTIAL, ACQUIRED, WITH LOW COMPLEMENT COMPONENT C3, WITH OR WITHOUT GLOMERULONEPHRITIS; APLDC3	TRUE
OMIM	613944	IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2; IGAN2	TRUE
OMIM	614008	NESTOR-GUILLERMO PROGERIA SYNDROME; NGPS	TRUE
OMIM	614025	HEPATIC LIPASE DEFICIENCY	TRUE
OMIM	614025	LIPC DEFICIENCY	FALSE
OMIM	614025	HL DEFICIENCY	FALSE
OMIM	614065	MYOPATHY, DISTAL, 4; MPD4	TRUE
OMIM	614099	CRANIOECTODERMAL DYSPLASIA 3	TRUE
OMIM	614104	MENTAL RETARDATION, AUTOSOMAL DOMINANT 7	TRUE
OMIM	614170	BRITTLE CORNEA SYNDROME 2; BCS2	TRUE
OMIM	614209	MECKEL SYNDROME, TYPE 9; MKS9	TRUE
OMIM	614222	WARBURG MICRO SYNDROME 3; WARBM3	TRUE
OMIM	614250	NARCOLEPSY 7; NRCLP7	TRUE
OMIM	614300	HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY	TRUE
OMIM	614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1	TRUE
OMIM	614381	LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM	TRUE
OMIM	614407	MICROCEPHALY, CEREBELLAR HYPOPLASIA, AND CARDIAC CONDUCTION DEFECT SYNDROME; MCHCCD	TRUE
OMIM	614436	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P; CMT2P	TRUE
OMIM	614473	ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2	TRUE
OMIM	614527	CHROMOSOME 17q12 DELETION SYNDROME	TRUE
OMIM	614557	EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2; EDSKSCL2	TRUE
OMIM	614575	CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME; CANVAS	TRUE
OMIM	614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L	TRUE
OMIM	614684	HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITAL ABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES	TRUE
OMIM	614727	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK	TRUE
OMIM	614741	MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY	TRUE
OMIM	614819	WEILL-MARCHESANI SYNDROME 3	TRUE
OMIM	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE	TRUE
OMIM	614863	PEROXISOME BIOGENESIS DISORDER 4B; PBD4B	TRUE
OMIM	614866	PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)	TRUE
OMIM	614886	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)	TRUE
OMIM	614887	PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)	TRUE
OMIM	614924	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12	TRUE
OMIM	614940	ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT; ECTD11A	TRUE
OMIM	614941	ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B	TRUE
OMIM	614944	DEAFNESS, AUTOSOMAL RECESSIVE 84B; DFNB84B	TRUE
OMIM	614970	JOUBERT SYNDROME 20; JBTS20	TRUE
OMIM	615074	MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18	TRUE
OMIM	615106	COWDEN SYNDROME 3; CWS3	TRUE
OMIM	615107	COWDEN SYNDROME 4; CWS4	TRUE
OMIM	615127	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4; FAME4	TRUE
OMIM	615222	SMITH-MCCORT DYSPLASIA 2; SMC2	TRUE
OMIM	615224	ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2; FASPS2	TRUE
OMIM	615285	NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5	TRUE
OMIM	615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13	TRUE
OMIM	615373	LEFT VENTRICULAR NONCOMPACTION 8; LVNC8	TRUE
OMIM	615419	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1	TRUE
OMIM	615530	PARKINSON DISEASE 20, EARLY-ONSET; PARK20	TRUE
OMIM	615560	OTOFACIOCERVICAL SYNDROME 2	TRUE
OMIM	615704	POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS; POIKTMP	TRUE
OMIM	615721	RENAL HYPODYSPLASIA/APLASIA 2; RHDA2	TRUE
OMIM	615745	ATRIAL STANDSTILL 2; ATRST2	TRUE
OMIM	615745	ATRIAL DILATION AND STANDSTILL	FALSE
OMIM	615745	CARDIOMYOPATHY, ATRIAL DILATED, WITH ATRIAL STANDSTILL	FALSE
OMIM	615751	CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO	TRUE
OMIM	615816	IMMUNODEFICIENCY 23; IMD23	TRUE
OMIM	615824	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7	TRUE
OMIM	615828	MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24	TRUE
OMIM	615830	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4	TRUE
OMIM	615911	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2	TRUE
OMIM	615947	HYPERLIPOPROTEINEMIA, TYPE ID	TRUE
OMIM	615961	ACID-LABILE SUBUNIT DEFICIENCY; ACLSD	TRUE
OMIM	616034	2,4-DIENOYL-CoA REDUCTASE DEFICIENCY; DECRD	TRUE
OMIM	616037	CILIARY DYSKINESIA, PRIMARY, 30; CILD30	TRUE
OMIM	616067	46,XY SEX REVERSAL 9; SRXY9	TRUE
OMIM	616108	RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME; RDJCSS	TRUE
OMIM	616117	CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY; CCDD	TRUE
OMIM	616202	CEREBELLOFACIODENTAL SYNDROME	TRUE
OMIM	616229	OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16	TRUE
OMIM	616266	CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY	TRUE
OMIM	616289	OPTIC ATROPHY 9; OPA9	TRUE
OMIM	616362	MENTAL RETARDATION, AUTOSOMAL DOMINANT 36; MRD36	TRUE
OMIM	616367	MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA; MFDA	TRUE
OMIM	616457	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50; EIEE50	TRUE
OMIM	616468	EXUDATIVE VITREORETINOPATHY 6; EVR6	TRUE
OMIM	616503	LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9	TRUE
OMIM	616562	RETINITIS PIGMENTOSA 74; RP74	TRUE
OMIM	616730	NEPHROTIC SYNDROME, TYPE 11; NPHS11	TRUE
OMIM	616737	TAKENOUCHI-KOSAKI SYNDROME; TKS	TRUE
OMIM	616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2	TRUE
OMIM	616818	IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3	TRUE
OMIM	616859	SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA	TRUE
OMIM	616897	OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE	TRUE
OMIM	616900	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3	TRUE
OMIM	617011	MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR	TRUE
OMIM	617041	DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS; DURS3	TRUE
OMIM	617171	DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER	TRUE
OMIM	617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1; PEBEL1	TRUE
OMIM	617222	SUDDEN CARDIAC FAILURE, INFANTILE	TRUE
OMIM	617223	SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED	TRUE
OMIM	617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS	TRUE
OMIM	617251	UNCOMBABLE HAIR SYNDROME 2	TRUE
OMIM	617253	SECKEL SYNDROME 10; SCKL10	TRUE
OMIM	617303	MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME; MPSPS	TRUE
OMIM	617319	ANTERIOR SEGMENT DYSGENESIS 8	TRUE
OMIM	617466	TOWNES-BROCKS SYNDROME 2; TBS2	TRUE
OMIM	617480	46,XX SEX REVERSAL 4; SRXX4	TRUE
OMIM	617602	CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM	TRUE
OMIM	617666	FRASER SYNDROME 2; FRASRS2	TRUE
OMIM	617667	FRASER SYNDROME 3; FRASRS3	TRUE
OMIM	617668	ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES; NELABA	TRUE
OMIM	617751	MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48	TRUE
OMIM	617907	ERYTHROCYTOSIS, FAMILIAL, 5; ECYT5	TRUE
OMIM	617925	SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20	TRUE
OMIM	617927	OROFACIODIGITAL SYNDROME XVIII; OFD18	TRUE
OMIM	618109	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65	TRUE
OMIM	618220	RETINITIS PIGMENTOSA 84; RP84	TRUE
OMIM	618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION; VETD	TRUE
OMIM	618234	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11; MC1DN11	TRUE
OMIM	618272	GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR; GLOW	TRUE
OMIM	618278	FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS; FINCA	TRUE
OMIM	618280	CARDIAC-UROGENITAL SYNDROME; CUGS	TRUE
OMIM	618283	VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI; VIPB	TRUE
OMIM	618307	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4; EV4	TRUE
OMIM	618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18	TRUE
OMIM	618314	HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2; HOMGSMR2	TRUE
OMIM	618348	GALLOWAY-MOWAT SYNDROME 7; GAMOS7	TRUE
OMIM	618371	TURNPENNY-FRY SYNDROME; TPFS	TRUE
OMIM	618400	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE; CMT2EE	TRUE
OMIM	618419	GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY; GDRM	TRUE
ORPHA	100050	Hereditary angioedema type 1	TRUE
ORPHA	100075	Neuroendocrine tumor of stomach	TRUE
ORPHA	100076	Duodenal neuroendocrine tumor	TRUE
ORPHA	100077	Jejunal neuroendocrine tumor	TRUE
ORPHA	100078	Ileal neuroendocrine tumor	TRUE
ORPHA	100079	Neuroendocrine neoplasm of appendix	TRUE
ORPHA	100084	Middle ear neuroendocrine tumor	TRUE
ORPHA	100996	Autosomal recessive spastic paraplegia type 15	TRUE
ORPHA	100997	X-linked spastic paraplegia type 16	TRUE
ORPHA	100998	Autosomal dominant spastic paraplegia type 17	TRUE
ORPHA	101003	Autosomal recessive spastic paraplegia type 23	TRUE
ORPHA	101009	Autosomal dominant spastic paraplegia type 29	TRUE
ORPHA	101016	Romano-Ward syndrome	TRUE
ORPHA	101028	Transaldolase deficiency	TRUE
ORPHA	101111	Spinocerebellar ataxia type 25	TRUE
ORPHA	101112	Spinocerebellar ataxia type 26	TRUE
ORPHA	104	Leber hereditary optic neuropathy	TRUE
ORPHA	1051	Ramos-Arroyo syndrome	TRUE
ORPHA	1055	Fetal left ventricular aneurysm	TRUE
ORPHA	1071	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	TRUE
ORPHA	1106	Microphthalmia with limb anomalies	TRUE
ORPHA	1150	Arthrogryposis multiplex congenita-whistling face syndrome	TRUE
ORPHA	1164	Allergic bronchopulmonary aspergillosis	TRUE
ORPHA	1166	Congenital unilateral hypoplasia of depressor anguli oris	TRUE
ORPHA	117	Behçet disease	TRUE
ORPHA	1180	Ataxia-hypogonadism-choroidal dystrophy syndrome	TRUE
ORPHA	1192	Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome	TRUE
ORPHA	1193	Atkin-Flaitz syndrome	TRUE
ORPHA	1199	Esophageal atresia	TRUE
ORPHA	1227	Bangstad syndrome	TRUE
ORPHA	1234	Bartsocas-Papas syndrome	TRUE
ORPHA	1253	Ascher syndrome	TRUE
ORPHA	1264	Tricho-retino-dento-digital syndrome	TRUE
ORPHA	1292	Brachymorphism-onychodysplasia-dysphalangism syndrome	TRUE
ORPHA	1299	Branchioskeletogenital syndrome	TRUE
ORPHA	1319	Camptobrachydactyly	TRUE
ORPHA	1326	Camptodactyly syndrome, Guadalajara type 2	TRUE
ORPHA	1334	Chronic mucocutaneous candidiasis	TRUE
ORPHA	1335	Pentalogy of Cantrell	TRUE
ORPHA	1358	Carey-Fineman-Ziter syndrome	TRUE
ORPHA	1359	Carney complex	TRUE
ORPHA	136	CADASIL	TRUE
ORPHA	137	Congenital disorder of glycosylation	TRUE
ORPHA	137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	TRUE
ORPHA	137902	Isolated optic nerve hypoplasia/aplasia	TRUE
ORPHA	137914	Choanal atresia	TRUE
ORPHA	138	CHARGE syndrome	TRUE
ORPHA	1394	Cerebrofaciothoracic dysplasia	TRUE
ORPHA	139450	Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome	TRUE
ORPHA	139466	SERKAL syndrome	TRUE
ORPHA	139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	TRUE
ORPHA	140286	Secondary hypoparathyroidism due to impaired parathormon secretion	TRUE
ORPHA	140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency	TRUE
ORPHA	140908	Brachydactyly type B2	TRUE
ORPHA	140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	TRUE
ORPHA	140976	RHYNS syndrome	TRUE
ORPHA	140989	Primary angiitis of the central nervous system	TRUE
ORPHA	1410	Uncombable hair syndrome	TRUE
ORPHA	141127	Congenital tracheal stenosis	TRUE
ORPHA	141136	Otomandibular syndrome	TRUE
ORPHA	141291	Cleft lip and alveolus	TRUE
ORPHA	1426	Greenberg dysplasia	TRUE
ORPHA	143	Parathyroid carcinoma	TRUE
ORPHA	1435	Xq21 microdeletion syndrome	TRUE
ORPHA	1439	Ring chromosome 12 syndrome	TRUE
ORPHA	1446	Ring chromosome 22 syndrome	TRUE
ORPHA	1449	Ring chromosome 7 syndrome	TRUE
ORPHA	1451	CINCA syndrome	TRUE
ORPHA	147	Carbamoyl-phosphate synthetase 1 deficiency	TRUE
ORPHA	1475	Renal coloboma syndrome	TRUE
ORPHA	1501	Adrenocortical carcinoma	TRUE
ORPHA	1521	Craniofrontonasal dysplasia-Poland anomaly syndrome	TRUE
ORPHA	1525	Cranio-osteoarthropathy	TRUE
ORPHA	1529	Craniofacial-deafness-hand syndrome	TRUE
ORPHA	1540	Jackson-Weiss syndrome	TRUE
ORPHA	1546	Cryptococcosis	TRUE
ORPHA	1549	Cryptosporidiosis	TRUE
ORPHA	1556	Cutis marmorata telangiectatica congenita	TRUE
ORPHA	1562	Dacryocystitis-osteopoikilosis syndrome	TRUE
ORPHA	158000	Juvenile xanthogranuloma	TRUE
ORPHA	158003	Xanthoma disseminatum	TRUE
ORPHA	158008	Papular xanthoma	TRUE
ORPHA	158029	Sea-blue histiocytosis	TRUE
ORPHA	158684	Epidermolysis bullosa simplex with pyloric atresia	TRUE
ORPHA	1600	Monosomy 18q	TRUE
ORPHA	1606	1p36 deletion syndrome	TRUE
ORPHA	1617	2q24 microdeletion syndrome	TRUE
ORPHA	163654	Spondyloepiphyseal dysplasia, Cantu type	TRUE
ORPHA	163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	TRUE
ORPHA	163979	X-linked intellectual disability-craniofacioskeletal syndrome	TRUE
ORPHA	1662	Restrictive dermopathy	TRUE
ORPHA	1665	Sporadic fetal brain disruption sequence	TRUE
ORPHA	168549	Axial spondylometaphyseal dysplasia	TRUE
ORPHA	168569	H syndrome	TRUE
ORPHA	169079	Cernunnos-XLF deficiency	TRUE
ORPHA	169105	Good syndrome	TRUE
ORPHA	169189	Autosomal dominant centronuclear myopathy	TRUE
ORPHA	1692	Mosaic trisomy 1	TRUE
ORPHA	170	Woolly hair	TRUE
ORPHA	1707	Distal trisomy 15q	TRUE
ORPHA	171430	Severe congenital nemaline myopathy	TRUE
ORPHA	171439	Childhood-onset nemaline myopathy	TRUE
ORPHA	171442	Adult-onset nemaline myopathy	TRUE
ORPHA	172	Progressive familial intrahepatic cholestasis	TRUE
ORPHA	1756	Caudal duplication	TRUE
ORPHA	1772	45,X/46,XY mixed gonadal dysgenesis	TRUE
ORPHA	178029	Central diabetes insipidus	TRUE
ORPHA	1784	Acrofrontofacionasal dysostosis	TRUE
ORPHA	1791	Frontofacionasal dysplasia	TRUE
ORPHA	1797	Autosomal dominant spondylocostal dysostosis	TRUE
ORPHA	182050	MYH9-related disease	TRUE
ORPHA	1827	Acromelic frontonasal dysplasia	TRUE
ORPHA	183	Eosinophilic granulomatosis with polyangiitis	TRUE
ORPHA	1839	Hereditary mucoepithelial dysplasia	TRUE
ORPHA	1848	Renal agenesis, bilateral	TRUE
ORPHA	185	Scimitar syndrome	TRUE
ORPHA	1875	Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome	TRUE
ORPHA	189439	Primary pigmented nodular adrenocortical disease	TRUE
ORPHA	1895	Edinburgh malformation syndrome	TRUE
ORPHA	1896	EEC syndrome	TRUE
ORPHA	1899	Arthrochalasia Ehlers-Danlos syndrome	TRUE
ORPHA	1901	Dermatosparaxis Ehlers-Danlos syndrome	TRUE
ORPHA	192	Coffin-Lowry syndrome	TRUE
ORPHA	193	Cohen syndrome	TRUE
ORPHA	1934	Early infantile epileptic encephalopathy	TRUE
ORPHA	1945	Rolandic epilepsy	TRUE
ORPHA	1970	Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome	TRUE
ORPHA	1974	Autosomal recessive faciodigitogenital syndrome	TRUE
ORPHA	199	Cornelia de Lange syndrome	TRUE
ORPHA	199310	Tetragametic chimerism	TRUE
ORPHA	199351	Adult-onset dystonia-parkinsonism	TRUE
ORPHA	20	3-hydroxy-3-methylglutaric aciduria	TRUE
ORPHA	201	Cowden syndrome	TRUE
ORPHA	2028	Juvenile hyaline fibromatosis	TRUE
ORPHA	2036	Scalp-ear-nipple syndrome	TRUE
ORPHA	2038	Pulmonary arteriovenous malformation	TRUE
ORPHA	2052	Fraser syndrome	TRUE
ORPHA	2053	Freeman-Sheldon syndrome	TRUE
ORPHA	2054	Osteochondritis of tarsal/metatarsal bone	TRUE
ORPHA	2062	Progressive non-infectious anterior vertebral fusion	TRUE
ORPHA	206484	Gonadoblastoma	TRUE
ORPHA	2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	TRUE
ORPHA	2073	Narcolepsy type 1	TRUE
ORPHA	2086	Optic pathway glioma	TRUE
ORPHA	209	Cutis laxa	TRUE
ORPHA	2090	GMS syndrome	TRUE
ORPHA	2092	Focal dermal hypoplasia	TRUE
ORPHA	2097	Grant syndrome	TRUE
ORPHA	209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	TRUE
ORPHA	209905	Brain-lung-thyroid syndrome	TRUE
ORPHA	209943	IRVAN syndrome	TRUE
ORPHA	209951	Autosomal recessive spastic paraplegia type 18	TRUE
ORPHA	210136	Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome	TRUE
ORPHA	2108	Hallermann-Streiff syndrome	TRUE
ORPHA	2123	Diffuse neonatal hemangiomatosis	TRUE
ORPHA	2126	Solitary fibrous tumour/hemangiopericytoma	TRUE
ORPHA	2136	Hennekam syndrome	TRUE
ORPHA	2138	46,XX ovotesticular disorder of sex development	TRUE
ORPHA	2141	Diaphragmatic defect-limb deficiency-skull defect syndrome	TRUE
ORPHA	2145	Craniosynostosis, Herrmann-Opitz type	TRUE
ORPHA	216694	Congenitally corrected transposition of the great arteries	TRUE
ORPHA	217017	Zechi-Ceide syndrome	TRUE
ORPHA	2176	Infantile systemic hyalinosis	TRUE
ORPHA	2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	TRUE
ORPHA	2200	Focal palmoplantar and gingival keratoderma	TRUE
ORPHA	220460	Attenuated familial adenomatous polyposis	TRUE
ORPHA	221	Dermatomyositis	TRUE
ORPHA	221091	Trigeminal neuralgia	TRUE
ORPHA	2215	Multiple pterygium-malignant hyperthermia syndrome	TRUE
ORPHA	2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	TRUE
ORPHA	2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	TRUE
ORPHA	2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	TRUE
ORPHA	225147	Sporadic infantile bilateral striatal necrosis	TRUE
ORPHA	2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	TRUE
ORPHA	226313	Congenital hypothyroidism due to maternal intake of antithyroid drugs	TRUE
ORPHA	227510	Multiple system atrophy, cerebellar type	TRUE
ORPHA	227982	Autoimmune polyendocrinopathy type 3	TRUE
ORPHA	227990	Autoimmune polyendocrinopathy type 4	TRUE
ORPHA	228240	Elastoderma	TRUE
ORPHA	228312	Autoimmune hemolytic anemia, cold type	TRUE
ORPHA	228396	Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome	TRUE
ORPHA	228402	2q23.1 microdeletion syndrome	TRUE
ORPHA	2298	Insulin-resistance syndrome type B	TRUE
ORPHA	230	Dopamine beta-hydroxylase deficiency	TRUE
ORPHA	2306	Isotretinoin-like syndrome	TRUE
ORPHA	231169	Usher syndrome type 1	TRUE
ORPHA	231183	Usher syndrome type 3	TRUE
ORPHA	2314	Autosomal dominant hyper-IgE syndrome	TRUE
ORPHA	2315	Johanson-Blizzard syndrome	TRUE
ORPHA	2324	Osteopenia-intellectual disability-sparse hair syndrome	TRUE
ORPHA	2386	Leukoencephalopathy-palmoplantar keratoderma syndrome	TRUE
ORPHA	240071	Classic progressive supranuclear palsy syndrome	TRUE
ORPHA	240085	Progressive supranuclear palsy-parkinsonism syndrome	TRUE
ORPHA	2409	Lowry-MacLean syndrome	TRUE
ORPHA	2430	Congenital macroglossia	TRUE
ORPHA	244310	RFT1-CDG	TRUE
ORPHA	245	Nager syndrome	TRUE
ORPHA	2457	Mandibuloacral dysplasia	TRUE
ORPHA	2461	Marden-Walker syndrome	TRUE
ORPHA	2463	Marfanoid habitus-autosomal recessive intellectual disability syndrome	TRUE
ORPHA	2467	Systemic mastocytosis	TRUE
ORPHA	247257	Inhalational anthrax	TRUE
ORPHA	247262	Hyperphosphatasia-intellectual disability syndrome	TRUE
ORPHA	2473	McKusick-Kaufman syndrome	TRUE
ORPHA	247525	Citrullinemia type I	TRUE
ORPHA	247598	Neonatal intrahepatic cholestasis due to citrin deficiency	TRUE
ORPHA	247604	Juvenile primary lateral sclerosis	TRUE
ORPHA	247768	Müllerian aplasia and hyperandrogenism	TRUE
ORPHA	2495	Meningioma	TRUE
ORPHA	2496	Mesomelia-synostoses syndrome	TRUE
ORPHA	2502	Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome	TRUE
ORPHA	250977	AICA-ribosiduria	TRUE
ORPHA	250999	1q41q42 microdeletion syndrome	TRUE
ORPHA	251	Multiple epiphyseal dysplasia	TRUE
ORPHA	2510	Micro syndrome	TRUE
ORPHA	251004	Paternal uniparental disomy of chromosome 1	TRUE
ORPHA	251046	6p22 microdeletion syndrome	TRUE
ORPHA	251347	Ataxia-telangiectasia-like disorder	TRUE
ORPHA	2514	Autosomal dominant primary microcephaly	TRUE
ORPHA	251510	46,XY partial gonadal dysgenesis	TRUE
ORPHA	251643	Myxopapillary ependymoma	TRUE
ORPHA	251909	Pineoblastoma	TRUE
ORPHA	251992	Ganglioneuroma	TRUE
ORPHA	252164	Benign schwannoma	TRUE
ORPHA	2526	Microcephaly-lymphedema-chorioretinopathy syndrome	TRUE
ORPHA	254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	TRUE
ORPHA	254519	Kagami-Ogata syndrome	TRUE
ORPHA	2547	Microphthalmia-microtia-fetal akinesia syndrome	TRUE
ORPHA	254886	Autosomal recessive progressive external ophthalmoplegia	TRUE
ORPHA	254892	Autosomal dominant progressive external ophthalmoplegia	TRUE
ORPHA	2552	Microsporidiosis	TRUE
ORPHA	255210	Mitochondrial DNA-associated Leigh syndrome	TRUE
ORPHA	2554	Ear-patella-short stature syndrome	TRUE
ORPHA	2556	Microphthalmia with linear skin defects syndrome	TRUE
ORPHA	2560	Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome	TRUE
ORPHA	2571	X-linked immunoneurologic disorder	TRUE
ORPHA	2575	Cystic fibrosis-gastritis-megaloblastic anemia syndrome	TRUE
ORPHA	2585	Ataxia-pancytopenia syndrome	TRUE
ORPHA	2591	Infantile myofibromatosis	TRUE
ORPHA	26	Methylmalonic acidemia with homocystinuria	TRUE
ORPHA	2601	Myopathy-growth delay-intellectual disability-hypospadias syndrome	TRUE
ORPHA	2604	Familial visceral myopathy	TRUE
ORPHA	2611	Linear verrucous nevus syndrome	TRUE
ORPHA	261112	Monosomy 9p	TRUE
ORPHA	261265	17q12 microdeletion syndrome	TRUE
ORPHA	261311	20q13.33 microdeletion syndrome	TRUE
ORPHA	261323	21q22.11q22.12 microdeletion syndrome	TRUE
ORPHA	261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	TRUE
ORPHA	261911	Partial deletion of the short arm of chromosome 7	TRUE
ORPHA	263487	COG5-CDG	TRUE
ORPHA	263516	Progressive myoclonic epilepsy type 3	TRUE
ORPHA	264450	Trisomy 8p	TRUE
ORPHA	2671	Neu-Laxova syndrome	TRUE
ORPHA	26791	Multiple acyl-CoA dehydrogenase deficiency	TRUE
ORPHA	2686	Cyclic neutropenia	TRUE
ORPHA	268882	Arnold-Chiari malformation type I	TRUE
ORPHA	268943	Unilateral polymicrogyria	TRUE
ORPHA	2704	Ochoa syndrome	TRUE
ORPHA	2707	Oculocerebrofacial syndrome, Kaufman type	TRUE
ORPHA	2710	Oculodentodigital dysplasia	TRUE
ORPHA	2714	Oculo-palato-cerebral syndrome	TRUE
ORPHA	2717	Oculotrichoanal syndrome	TRUE
ORPHA	2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	TRUE
ORPHA	2729	Okamoto syndrome	TRUE
ORPHA	2736	Lethal omphalocele-cleft palate syndrome	TRUE
ORPHA	2749	Oromandibular-limb hypogenesis syndrome	TRUE
ORPHA	2751	Orofaciodigital syndrome type 2	TRUE
ORPHA	2753	Orofaciodigital syndrome type 4	TRUE
ORPHA	2756	Orofaciodigital syndrome type 10	TRUE
ORPHA	275766	Idiopathic pulmonary arterial hypertension	TRUE
ORPHA	275864	Behavioral variant of frontotemporal dementia	TRUE
ORPHA	2762	Progressive osseous heteroplasia	TRUE
ORPHA	276238	Machado-Joseph disease type 1	TRUE
ORPHA	276241	Machado-Joseph disease type 2	TRUE
ORPHA	276244	Machado-Joseph disease type 3	TRUE
ORPHA	276621	Sporadic pheochromocytoma/secreting paraganglioma	TRUE
ORPHA	2770	Nasu-Hakola disease	TRUE
ORPHA	2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	TRUE
ORPHA	2786	Osteoporosis-oculocutaneous hypopigmentation syndrome	TRUE
ORPHA	2791	Otodental syndrome	TRUE
ORPHA	2795	Polycystic ovaries-urethral sphincter dysfunction syndrome	TRUE
ORPHA	280062	Calciphylaxis	TRUE
ORPHA	280356	PLIN1-related familial partial lipodystrophy	TRUE
ORPHA	280365	Autosomal semi-dominant severe lipodystrophic laminopathy	TRUE
ORPHA	2804	W syndrome	TRUE
ORPHA	280633	Multiple congenital anomalies-hypotonia-seizures syndrome	TRUE
ORPHA	2828	Young-onset Parkinson disease	TRUE
ORPHA	2834	Wrinkly skin syndrome	TRUE
ORPHA	2836	PEHO syndrome	TRUE
ORPHA	284180	Xp22.13p22.2 duplication syndrome	TRUE
ORPHA	284227	TEMPI syndrome	TRUE
ORPHA	284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome	TRUE
ORPHA	284289	Adult-onset autosomal recessive cerebellar ataxia	TRUE
ORPHA	284417	Phosphoserine aminotransferase deficiency	TRUE
ORPHA	284979	Neonatal Marfan syndrome	TRUE
ORPHA	284984	Aneurysm-osteoarthritis syndrome	TRUE
ORPHA	286	Vascular Ehlers-Danlos syndrome	TRUE
ORPHA	287	Classical Ehlers-Danlos syndrome	TRUE
ORPHA	2886	TARP syndrome	TRUE
ORPHA	289	Ellis Van Creveld syndrome	TRUE
ORPHA	289157	Hypocalcemic vitamin D-dependent rickets	TRUE
ORPHA	289596	Juvenile nasopharyngeal angiofibroma	TRUE
ORPHA	2896	Pitt-Hopkins syndrome	TRUE
ORPHA	289601	Hereditary arterial and articular multiple calcification syndrome	TRUE
ORPHA	2897	Pityriasis rubra pilaris	TRUE
ORPHA	2907	Hereditary acrokeratotic poikiloderma	TRUE
ORPHA	29072	Hereditary pheochromocytoma-paraganglioma	TRUE
ORPHA	29073	Multiple myeloma	TRUE
ORPHA	2908	Kindler syndrome	TRUE
ORPHA	2909	Rothmund-Thomson syndrome	TRUE
ORPHA	2911	Poland syndrome	TRUE
ORPHA	292	Congenital enterovirus infection	TRUE
ORPHA	2926	Digital extensor muscle aplasia-polyneuropathy	TRUE
ORPHA	2930	Cronkhite-Canada syndrome	TRUE
ORPHA	293168	Infantile-onset ascending hereditary spastic paralysis	TRUE
ORPHA	293725	Blepharophimosis-intellectual disability syndrome, Verloes type	TRUE
ORPHA	293848	Frontotemporal dementia, right temporal atrophy variant	TRUE
ORPHA	293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	TRUE
ORPHA	293987	Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome	TRUE
ORPHA	2958	X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome	TRUE
ORPHA	2959	Progeria-short stature-pigmented nevi syndrome	TRUE
ORPHA	2962	De Barsy syndrome	TRUE
ORPHA	2965	Prolactinoma	TRUE
ORPHA	2969	Proteus-like syndrome	TRUE
ORPHA	2975	46,XX disorder of sex development-skeletal anomalies syndrome	TRUE
ORPHA	298	Mitochondrial neurogastrointestinal encephalomyopathy	TRUE
ORPHA	2980	Acrootoocular syndrome	TRUE
ORPHA	2985	Pseudoprogeria syndrome	TRUE
ORPHA	2990	Autosomal recessive multiple pterygium syndrome	TRUE
ORPHA	300373	X-linked acrogigantism	TRUE
ORPHA	300536	DDOST-CDG	TRUE
ORPHA	300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	TRUE
ORPHA	300605	Juvenile amyotrophic lateral sclerosis	TRUE
ORPHA	303	Dystrophic epidermolysis bullosa	TRUE
ORPHA	30391	Isolated biliary atresia	TRUE
ORPHA	306674	Kufor-Rakeb syndrome	TRUE
ORPHA	306682	Manganese poisoning	TRUE
ORPHA	306731	Sydenham chorea	TRUE
ORPHA	306741	Hemidystonia-hemiatrophy syndrome	TRUE
ORPHA	3071	Costello syndrome	TRUE
ORPHA	3082	Intellectual disability-polydactyly-uncombable hair syndrome	TRUE
ORPHA	309246	GM2 gangliosidosis, AB variant	TRUE
ORPHA	309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	TRUE
ORPHA	31	Oxoglutaric aciduria	TRUE
ORPHA	3107	Autosomal dominant Robinow syndrome	TRUE
ORPHA	3132	Say-Barber-Miller syndrome	TRUE
ORPHA	313855	FGFR2-related bent bone dysplasia	TRUE
ORPHA	314389	Xq12-q13.3 duplication syndrome	TRUE
ORPHA	3144	Schneckenbecken dysplasia	TRUE
ORPHA	314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	TRUE
ORPHA	314585	15q overgrowth syndrome	TRUE
ORPHA	3151	Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome	TRUE
ORPHA	3163	SHORT syndrome	TRUE
ORPHA	3168	Sillence syndrome	TRUE
ORPHA	319199	Autosomal recessive spastic paraplegia type 53	TRUE
ORPHA	319251	Rift valley fever	TRUE
ORPHA	3198	Stiff person syndrome and related disorders	TRUE
ORPHA	32	Glutathione synthetase deficiency	TRUE
ORPHA	320	Apparent mineralocorticoid excess	TRUE
ORPHA	3201	Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome	TRUE
ORPHA	3203	Overhydrated hereditary stomatocytosis	TRUE
ORPHA	3204	Stormorken-Sjaastad-Langslet syndrome	TRUE
ORPHA	3205	Sturge-Weber syndrome	TRUE
ORPHA	3206	Stüve-Wiedemann syndrome	TRUE
ORPHA	321	Multiple osteochondromas	TRUE
ORPHA	3232	Deafness-ear malformation-facial palsy syndrome	TRUE
ORPHA	324	Fabry disease	TRUE
ORPHA	324540	Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome	TRUE
ORPHA	324588	Familial dyskinesia and facial myokymia	TRUE
ORPHA	3246	Symphalangism with multiple anomalies of hands and feet	TRUE
ORPHA	325124	Testicular agenesis	TRUE
ORPHA	325345	46,XY ovotesticular disorder of sex development	TRUE
ORPHA	3260	Idiopathic hypereosinophilic syndrome	TRUE
ORPHA	329	Congenital factor XI deficiency	TRUE
ORPHA	329252	Spondylocostal dysostosis-hypospadias-intellectual disability syndrome	TRUE
ORPHA	329284	Beta-propeller protein-associated neurodegeneration	TRUE
ORPHA	329478	Adult-onset distal myopathy due to VCP mutation	TRUE
ORPHA	32960	Tumor necrosis factor receptor 1 associated periodic syndrome	TRUE
ORPHA	329971	Generalized juvenile polyposis/juvenile polyposis coli	TRUE
ORPHA	330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	TRUE
ORPHA	3310	Tetrasomy 9p	TRUE
ORPHA	3322	Hoyeraal-Hreidarsson syndrome	TRUE
ORPHA	33276	Kaposi sarcoma	TRUE
ORPHA	33364	Trichothiodystrophy	TRUE
ORPHA	3339	Toriello-Lacassie-Droste syndrome	TRUE
ORPHA	3342	Arterial tortuosity syndrome	TRUE
ORPHA	3352	Tricho-dento-osseous syndrome	TRUE
ORPHA	3369	Trigonocephaly-short stature-developmental delay syndrome	TRUE
ORPHA	3378	Trisomy 13	TRUE
ORPHA	3379	Distal trisomy 17q	TRUE
ORPHA	3389	Tuberculosis	TRUE
ORPHA	340	Hemorrhagic fever-renal syndrome	TRUE
ORPHA	3404	Ulbright-Hodes syndrome	TRUE
ORPHA	342	Familial Mediterranean fever	TRUE
ORPHA	3429	Verloove Vanhorick-Brubakk syndrome	TRUE
ORPHA	3440	Waardenburg syndrome	TRUE
ORPHA	3447	Weaver syndrome	TRUE
ORPHA	3455	Wiedemann-Rautenstrauch syndrome	TRUE
ORPHA	3456	Wildervanck syndrome	TRUE
ORPHA	346	Quinquaud's folliculitis decalvans	TRUE
ORPHA	3469	XK aprosencephaly syndrome	TRUE
ORPHA	3472	Yunis-Varon syndrome	TRUE
ORPHA	3473	Zimmermann-Laband syndrome	TRUE
ORPHA	35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	TRUE
ORPHA	352582	Familial infantile myoclonic epilepsy	TRUE
ORPHA	352596	Progressive myoclonic epilepsy with dystonia	TRUE
ORPHA	354	GM1 gangliosidosis	TRUE
ORPHA	355	Gaucher disease	TRUE
ORPHA	35612	Nanophthalmos	TRUE
ORPHA	35687	Erdheim-Chester disease	TRUE
ORPHA	35689	Primary lateral sclerosis	TRUE
ORPHA	358	Gitelman syndrome	TRUE
ORPHA	363417	Temtamy preaxial brachydactyly syndrome	TRUE
ORPHA	363429	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome	TRUE
ORPHA	363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	TRUE
ORPHA	363710	Spinocerebellar ataxia type 37	TRUE
ORPHA	364028	X-linked intellectual disability due to GRIA3 mutations	TRUE
ORPHA	36426	Stevens-Johnson syndrome	TRUE
ORPHA	37	Acrodermatitis enteropathica	TRUE
ORPHA	370348	Peripheral primitive neuroectodermal tumor	TRUE
ORPHA	370930	XYLT1-CDG	TRUE
ORPHA	370959	Congenital muscular dystrophy with cerebellar involvement	TRUE
ORPHA	371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	TRUE
ORPHA	37202	Interstitial cystitis	TRUE
ORPHA	374	Goldenhar syndrome	TRUE
ORPHA	381	Griscelli syndrome	TRUE
ORPHA	39044	Uveal melanoma	TRUE
ORPHA	391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	TRUE
ORPHA	391665	Homozygous familial hypercholesterolemia	TRUE
ORPHA	396	Chronic hiccup	TRUE
ORPHA	397	Giant cell arteritis	TRUE
ORPHA	397685	Familial hyperprolactinemia	TRUE
ORPHA	397695	3q27.3 microdeletion syndrome	TRUE
ORPHA	397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	TRUE
ORPHA	39812	Graft versus host disease	TRUE
ORPHA	398173	Focal facial dermal dysplasia type II	TRUE
ORPHA	399081	KLHL9-related early-onset distal myopathy	TRUE
ORPHA	401815	Autosomal recessive spastic paraplegia type 66	TRUE
ORPHA	401942	Familial median cleft of the upper and lower lips	TRUE
ORPHA	401973	MEND syndrome	TRUE
ORPHA	40366	Acitretin/etretinate embryopathy	TRUE
ORPHA	404448	ADNP syndrome	TRUE
ORPHA	404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	TRUE
ORPHA	407	Glycine encephalopathy	TRUE
ORPHA	411593	Insulin autoimmune syndrome	TRUE
ORPHA	411629	Nephropathic infantile cystinosis	TRUE
ORPHA	411709	Renal agenesis	TRUE
ORPHA	412	Dysbetalipoproteinemia	TRUE
ORPHA	412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	TRUE
ORPHA	415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	TRUE
ORPHA	423	Malignant hyperthermia of anesthesia	TRUE
ORPHA	423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	TRUE
ORPHA	42642	PFAPA syndrome	TRUE
ORPHA	427	Familial hypoaldosteronism	TRUE
ORPHA	42775	PHACE syndrome	TRUE
ORPHA	431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	TRUE
ORPHA	432	Normosmic congenital hypogonadotropic hypogonadism	TRUE
ORPHA	435628	Keppen-Lubinsky syndrome	TRUE
ORPHA	435660	LIPE-related familial partial lipodystrophy	TRUE
ORPHA	436	Hypophosphatasia	TRUE
ORPHA	436003	Contractures-developmental delay-Pierre Robin syndrome	TRUE
ORPHA	437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	TRUE
ORPHA	439167	Placental insufficiency	TRUE
ORPHA	439218	KCNQ2-related epileptic encephalopathy	TRUE
ORPHA	440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	TRUE
ORPHA	442	Congenital hypothyroidism	TRUE
ORPHA	443811	PGM3-CDG	TRUE
ORPHA	444002	11q22.2q22.3 microdeletion syndrome	TRUE
ORPHA	444490	Familial chylomicronemia syndrome	TRUE
ORPHA	447	Paroxysmal nocturnal hemoglobinuria	TRUE
ORPHA	447896	Tremor-ataxia-central hypomyelination syndrome	TRUE
ORPHA	45453	Incessant infant ventricular tachycardia	TRUE
ORPHA	454887	Corticobasal syndrome	TRUE
ORPHA	456328	X-linked myotubular myopathy-abnormal genitalia syndrome	TRUE
ORPHA	457059	Pseudohypoparathyroidism with Albright hereditary osteodystrophy	TRUE
ORPHA	459033	Ataxia-oculomotor apraxia type 4	TRUE
ORPHA	464	Incontinentia pigmenti	TRUE
ORPHA	464329	Kaposiform lymphangiomatosis	TRUE
ORPHA	466722	Autosomal recessive spastic paraplegia type 77	TRUE
ORPHA	469	Hereditary fructose intolerance	TRUE
ORPHA	470	Lysinuric protein intolerance	TRUE
ORPHA	476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	TRUE
ORPHA	480	Kearns-Sayre syndrome	TRUE
ORPHA	480536	MSH3-related attenuated familial adenomatous polyposis	TRUE
ORPHA	480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	TRUE
ORPHA	482601	Adenylosuccinate synthetase-like 1-related distal myopathy	TRUE
ORPHA	485	Kniest dysplasia	TRUE
ORPHA	488594	Autosomal recessive spastic paraplegia type 76	TRUE
ORPHA	49	Penile agenesis	TRUE
ORPHA	494	Keratoderma hereditarium mutilans	TRUE
ORPHA	50	Aicardi syndrome	TRUE
ORPHA	500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	TRUE
ORPHA	501	Lafora disease	TRUE
ORPHA	508488	8q24.3 microdeletion syndrome	TRUE
ORPHA	509	Leptospirosis	TRUE
ORPHA	50944	Schöpf-Schulz-Passarge syndrome	TRUE
ORPHA	50945	Blomstrand lethal chondrodysplasia	TRUE
ORPHA	51	Aicardi-Goutières syndrome	TRUE
ORPHA	513436	Autosomal recessive spastic paraplegia type 78	TRUE
ORPHA	514	Acute monoblastic leukemia	TRUE
ORPHA	51636	WHIM syndrome	TRUE
ORPHA	517	Acute myelomonocytic leukemia	TRUE
ORPHA	521	Chronic myeloid leukemia	TRUE
ORPHA	521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	TRUE
ORPHA	523	Hereditary leiomyomatosis and renal cell cancer	TRUE
ORPHA	52368	Mohr-Tranebjaerg syndrome	TRUE
ORPHA	52427	Retinitis punctata albescens	TRUE
ORPHA	52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	TRUE
ORPHA	525731	Pediatric-onset Graves disease	TRUE
ORPHA	528	Berardinelli-Seip congenital lipodystrophy	TRUE
ORPHA	52901	Isolated follicle stimulating hormone deficiency	TRUE
ORPHA	529799	Acute bilirubin encephalopathy	TRUE
ORPHA	529808	Chronic bilirubin encephalopathy	TRUE
ORPHA	529962	17q24.2 microdeletion syndrome	TRUE
ORPHA	529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome	TRUE
ORPHA	53	Albers-Schönberg osteopetrosis	TRUE
ORPHA	530	Lipoid proteinosis	TRUE
ORPHA	531	Miller-Dieker syndrome	TRUE
ORPHA	534	Oculocerebrorenal syndrome of Lowe	TRUE
ORPHA	53697	Gnathodiaphyseal dysplasia	TRUE
ORPHA	537	Toxic epidermal necrolysis	TRUE
ORPHA	53721	Spinal arteriovenous metameric syndrome	TRUE
ORPHA	54251	Corticosteroid-sensitive aseptic abscess syndrome	TRUE
ORPHA	543	Burkitt lymphoma	TRUE
ORPHA	54370	Primary membranoproliferative glomerulonephritis	TRUE
ORPHA	54595	Craniopharyngioma	TRUE
ORPHA	550	MELAS	TRUE
ORPHA	556	Malakoplakia	TRUE
ORPHA	558	Marfan syndrome	TRUE
ORPHA	559	Marinesco-Sjögren syndrome	TRUE
ORPHA	56	Alkaptonuria	TRUE
ORPHA	56304	Atelosteogenesis type II	TRUE
ORPHA	56305	Atelosteogenesis type III	TRUE
ORPHA	564	Meckel syndrome	TRUE
ORPHA	567	22q11.2 deletion syndrome	TRUE
ORPHA	572	Immunodeficiency by defective expression of MHC class II	TRUE
ORPHA	573	Monilethrix	TRUE
ORPHA	575	Muckle-Wells syndrome	TRUE
ORPHA	582	Mucopolysaccharidosis type 4	TRUE
ORPHA	589	Myasthenia gravis	TRUE
ORPHA	59135	Laing early-onset distal myopathy	TRUE
ORPHA	600	Vocal cord and pharyngeal distal myopathy	TRUE
ORPHA	602	GNE myopathy	TRUE
ORPHA	617	Congenital primary megaureter	TRUE
ORPHA	622	Homocystinuria without methylmalonic aciduria	TRUE
ORPHA	63446	Acrocapitofemoral dysplasia	TRUE
ORPHA	64	Alström syndrome	TRUE
ORPHA	644	NARP syndrome	TRUE
ORPHA	64752	Hereditary sensory and autonomic neuropathy type 5	TRUE
ORPHA	64755	Becker nevus syndrome	TRUE
ORPHA	649	Norrie disease	TRUE
ORPHA	65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	TRUE
ORPHA	65759	Carpenter syndrome	TRUE
ORPHA	659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	TRUE
ORPHA	66518	Short fifth metacarpals-insulin resistance syndrome	TRUE
ORPHA	66624	PANDAS	TRUE
ORPHA	66627	Pigmented villonodular synovitis	TRUE
ORPHA	67036	Autosomal dominant optic atrophy and cataract	TRUE
ORPHA	67043	Amoebic keratitis	TRUE
ORPHA	67048	3-methylglutaconic aciduria type 4	TRUE
ORPHA	672	Pallister-Hall syndrome	TRUE
ORPHA	673	Malaria	TRUE
ORPHA	678	Papillon-Lefèvre syndrome	TRUE
ORPHA	679	Malignant atrophic papulosis	TRUE
ORPHA	681	Hypokalemic periodic paralysis	TRUE
ORPHA	683	Progressive supranuclear palsy	TRUE
ORPHA	69085	Limb-mammary syndrome	TRUE
ORPHA	69744	Circumscribed palmoplantar hypokeratosis	TRUE
ORPHA	701	Alopecia universalis	TRUE
ORPHA	704	Pemphigus vulgaris	TRUE
ORPHA	70476	Vernal keratoconjunctivitis	TRUE
ORPHA	70578	Adult acute respiratory distress syndrome	TRUE
ORPHA	70591	Chronic thromboembolic pulmonary hypertension	TRUE
ORPHA	71211	Neuromyelitis optica	TRUE
ORPHA	71277	Classic glucose transporter type 1 deficiency syndrome	TRUE
ORPHA	722	Hypoplasminogenemia	TRUE
ORPHA	724	Idiopathic acute eosinophilic pneumonia	TRUE
ORPHA	73223	Global developmental delay-osteopenia-ectodermal defect syndrome	TRUE
ORPHA	73224	Tubular renal disease-cardiomyopathy syndrome	TRUE
ORPHA	73267	Non-24-hour sleep-wake syndrome	TRUE
ORPHA	740	Hutchinson-Gilford progeria syndrome	TRUE
ORPHA	742	Prolidase deficiency	TRUE
ORPHA	745	Severe hereditary thrombophilia due to congenital protein C deficiency	TRUE
ORPHA	747	Autoimmune pulmonary alveolar proteinosis	TRUE
ORPHA	752	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	TRUE
ORPHA	75373	Progressive bifocal chorioretinal atrophy	TRUE
ORPHA	755	Leydig cell hypoplasia	TRUE
ORPHA	75564	Acquired idiopathic sideroblastic anemia	TRUE
ORPHA	758	Pseudoxanthoma elasticum	TRUE
ORPHA	75857	6q terminal deletion syndrome	TRUE
ORPHA	767	Polyarteritis nodosa	TRUE
ORPHA	77259	Gaucher disease type 1	TRUE
ORPHA	77261	Gaucher disease type 3	TRUE
ORPHA	778	Rett syndrome	TRUE
ORPHA	790	Retinoblastoma	TRUE
ORPHA	79083	PPARG-related familial partial lipodystrophy	TRUE
ORPHA	79086	Acquired generalized lipodystrophy	TRUE
ORPHA	79096	Pyridoxal phosphate-responsive seizures	TRUE
ORPHA	79102	Thyrotoxic periodic paralysis	TRUE
ORPHA	79106	Eiken syndrome	TRUE
ORPHA	79136	Episodic ataxia type 4	TRUE
ORPHA	79147	Familial reactive perforating collagenosis	TRUE
ORPHA	79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	TRUE
ORPHA	79234	Crigler-Najjar syndrome type 1	TRUE
ORPHA	79239	Classic galactosemia	TRUE
ORPHA	79241	Biotinidase deficiency	TRUE
ORPHA	79242	Holocarboxylase synthetase deficiency	TRUE
ORPHA	79262	Adult neuronal ceroid lipofuscinosis	TRUE
ORPHA	79273	Hereditary coproporphyria	TRUE
ORPHA	79277	Congenital erythropoietic porphyria	TRUE
ORPHA	79280	Alpha-N-acetylgalactosaminidase deficiency type 2	TRUE
ORPHA	79282	Methylmalonic acidemia with homocystinuria, type cblC	TRUE
ORPHA	79283	Methylmalonic acidemia with homocystinuria, type cblD	TRUE
ORPHA	79284	Methylmalonic acidemia with homocystinuria type cblF	TRUE
ORPHA	79318	PMM2-CDG	TRUE
ORPHA	79403	Junctional epidermolysis bullosa-pyloric atresia syndrome	TRUE
ORPHA	79404	Junctional epidermolysis bullosa, generalized severe	TRUE
ORPHA	79430	Hermansky-Pudlak syndrome	TRUE
ORPHA	79452	Milroy disease	TRUE
ORPHA	79474	Atypical Werner syndrome	TRUE
ORPHA	79500	DOORS syndrome	TRUE
ORPHA	797	Sarcoidosis	TRUE
ORPHA	798	Schinzel-Giedion syndrome	TRUE
ORPHA	8	47,XYY syndrome	TRUE
ORPHA	800	Schwartz-Jampel syndrome	TRUE
ORPHA	801	Scleroderma	TRUE
ORPHA	818	Smith-Lemli-Opitz syndrome	TRUE
ORPHA	820	Sneddon syndrome	TRUE
ORPHA	822	Hereditary spherocytosis	TRUE
ORPHA	824	Primary myelofibrosis	TRUE
ORPHA	827	Stargardt disease	TRUE
ORPHA	83468	Solitary bone cyst	TRUE
ORPHA	83628	LUMBAR syndrome	TRUE
ORPHA	84064	Syndromic diarrhea	TRUE
ORPHA	84090	Fibronectin glomerulopathy	TRUE
ORPHA	848	Beta-thalassemia	TRUE
ORPHA	85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	TRUE
ORPHA	85184	Craniometadiaphyseal dysplasia, wormian bone type	TRUE
ORPHA	85202	Keutel syndrome	TRUE
ORPHA	85276	X-linked intellectual disability, Armfield type	TRUE
ORPHA	85278	Christianson syndrome	TRUE
ORPHA	85279	Syndromic X-linked intellectual disability due to JARID1C mutation	TRUE
ORPHA	85290	X-linked intellectual disability, Wilson type	TRUE
ORPHA	85410	Oligoarticular juvenile idiopathic arthritis	TRUE
ORPHA	85436	Psoriasis-related juvenile idiopathic arthritis	TRUE
ORPHA	85445	AA amyloidosis	TRUE
ORPHA	85446	Wild type ABeta2M amyloidosis	TRUE
ORPHA	85448	AGel amyloidosis	TRUE
ORPHA	859	Transcobalamin deficiency	TRUE
ORPHA	861	Treacher-Collins syndrome	TRUE
ORPHA	86839	Refractory anemia with excess blasts	TRUE
ORPHA	869	Triple A syndrome	TRUE
ORPHA	86909	Myoclonic epilepsy of infancy	TRUE
ORPHA	881	Turner syndrome	TRUE
ORPHA	88618	Psychomotor delay due to S-adenosylhomocysteine hydrolase deficiency	TRUE
ORPHA	88628	Posterior column ataxia-retinitis pigmentosa syndrome	TRUE
ORPHA	88673	Hepatocellular carcinoma	TRUE
ORPHA	888	Van der Woude syndrome	TRUE
ORPHA	889	Cutaneous small vessel vasculitis	TRUE
ORPHA	897	Waardenburg-Shah syndrome	TRUE
ORPHA	89840	Junctional epidermolysis bullosa, non-Herlitz type	TRUE
ORPHA	899	Walker-Warburg syndrome	TRUE
ORPHA	89936	X-linked hypophosphatemia	TRUE
ORPHA	89937	Autosomal dominant hypophosphatemic rickets	TRUE
ORPHA	900	Granulomatosis with polyangiitis	TRUE
ORPHA	90026	Primary erythromelalgia	TRUE
ORPHA	90038	Shiga toxin-associated hemolytic uremic syndrome	TRUE
ORPHA	90050	Retinopathy of prematurity	TRUE
ORPHA	90153	Mandibuloacral dysplasia with type A lipodystrophy	TRUE
ORPHA	90154	Mandibuloacral dysplasia with type B lipodystrophy	TRUE
ORPHA	90289	Localized scleroderma	TRUE
ORPHA	90290	CREST syndrome	TRUE
ORPHA	90291	Systemic sclerosis	TRUE
ORPHA	90340	Blau syndrome	TRUE
ORPHA	90354	Brittle cornea syndrome	TRUE
ORPHA	904	Williams syndrome	TRUE
ORPHA	906	Wiskott-Aldrich syndrome	TRUE
ORPHA	90646	Deafness-hypogonadism syndrome	TRUE
ORPHA	90650	Otopalatodigital syndrome type 1	TRUE
ORPHA	90695	Panhypopituitarism	TRUE
ORPHA	90790	Congenital lipoid adrenal hyperplasia due to STAR deficency	TRUE
ORPHA	90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	TRUE
ORPHA	90794	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	TRUE
ORPHA	90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	TRUE
ORPHA	91	Aromatase deficiency	TRUE
ORPHA	912	Zellweger syndrome	TRUE
ORPHA	91347	TSH-secreting pituitary adenoma	TRUE
ORPHA	91348	Functioning gonadotropic adenoma	TRUE
ORPHA	91349	Non-functioning pituitary adenoma	TRUE
ORPHA	91351	Pituitary dermoid and epidermoid cysts	TRUE
ORPHA	91387	Familial thoracic aortic aneurysm and aortic dissection	TRUE
ORPHA	920	Ablepharon macrostomia syndrome	TRUE
ORPHA	927	Hyperammonemia due to N-acetylglutamate synthase deficiency	TRUE
ORPHA	93317	Spondylometaphyseal dysplasia, Sedaghatian type	TRUE
ORPHA	93388	Brachydactyly type A1	TRUE
ORPHA	93405	Syndactyly type 4	TRUE
ORPHA	93406	Syndactyly type 5	TRUE
ORPHA	93929	Cloacal exstrophy	TRUE
ORPHA	93930	Bladder exstrophy	TRUE
ORPHA	93958	Oromandibular dystonia	TRUE
ORPHA	94080	Non-functioning paraganglioma	TRUE
ORPHA	94095	Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome	TRUE
ORPHA	95427	Secondary short bowel syndrome	TRUE
ORPHA	95428	COG8-CDG	TRUE
ORPHA	95455	Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum	TRUE
ORPHA	95494	Combined pituitary hormone deficiencies, genetic forms	TRUE
ORPHA	95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	TRUE
ORPHA	96121	7q11.23 microduplication syndrome	TRUE
ORPHA	96123	Monosomy 22	TRUE
ORPHA	96164	Non-distal monosomy 20q	TRUE
ORPHA	96176	Ring chromosome 13 syndrome	TRUE
ORPHA	96191	Paternal uniparental disomy of chromosome 6	TRUE
ORPHA	96369	Early-onset schizophrenia	TRUE
ORPHA	970	Hereditary sensory and autonomic neuropathy type 2	TRUE
ORPHA	97214	Eisenmenger syndrome	TRUE
ORPHA	97230	Solar urticaria	TRUE
ORPHA	97231	Ligneous conjunctivitis	TRUE
ORPHA	97279	Insulinoma	TRUE
ORPHA	97287	Bronchial neuroendocrine tumor	TRUE
ORPHA	97355	Caribbean parkinsonism	TRUE
ORPHA	977	Adrenomyodystrophy	TRUE
ORPHA	98028	Rare circulatory system disease	TRUE
ORPHA	983	Testicular regression syndrome	TRUE
ORPHA	98375	Autoimmune hemolytic anemia	TRUE
ORPHA	98428	Secondary polycythemia	TRUE
ORPHA	98756	Spinocerebellar ataxia type 2	TRUE
ORPHA	98760	Spinocerebellar ataxia type 8	TRUE
ORPHA	98764	Spinocerebellar ataxia type 27	TRUE
ORPHA	98805	Primary dystonia, DYT4 type	TRUE
ORPHA	98907	Neutral lipid storage disease with ichthyosis	TRUE
ORPHA	98969	Macular corneal dystrophy	TRUE
ORPHA	98977	Juvenile glaucoma	TRUE
ORPHA	99125	Congenital total pulmonary venous return anomaly	TRUE
ORPHA	99147	Acquired von Willebrand syndrome	TRUE
ORPHA	99226	Monosomy X	TRUE
ORPHA	99228	Mosaic monosomy X	TRUE
ORPHA	99330	49,XYYYY syndrome	TRUE
ORPHA	99413	Turner syndrome due to structural X chromosome anomalies	TRUE
ORPHA	99429	Complete androgen insensitivity syndrome	TRUE
ORPHA	99812	LIG4 syndrome	TRUE
ORPHA	99818	Turcot syndrome with polyposis	TRUE
ORPHA	99852	Ravine syndrome	TRUE
ORPHA	99857	Secondary syringomyelia	TRUE
ORPHA	99870	Letterer-Siwe disease	TRUE
ORPHA	99880	Hyperparathyroidism-jaw tumor syndrome	TRUE
ORPHA	99885	Permanent neonatal diabetes mellitus	TRUE
ORPHA	99900	Long chain acyl-CoA dehydrogenase deficiency	TRUE
ORPHA	99901	Acyl-CoA dehydrogenase 9 deficiency	TRUE
ORPHA	99921	Chronic graft versus host disease	TRUE
ORPHA	99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	TRUE
