id	synonym	type
0000002	Abnormality of body height	EXACT
0000009	Poor bladder function	EXACT
0000017	Nycturia	EXACT
0000019	Difficulty with flow	EXACT
0000024	Inflammation of the prostate	EXACT
0000030	Gonadoblastoma, male	RELATED
0000036	Abnormality of the penis	EXACT
0000042	Absent external genitalia	EXACT
0000050	Hypoplastic male genitalia	EXACT
0000050	Small male external genitalia	EXACT
0000050	Underdeveloped male genitalia	EXACT
0000056	Abnormality of the clit	EXACT
0000063	Fused inner lips	EXACT
0000064	Underdeveloped inner lips	EXACT
0000065	Enlargement of the labia	EXACT
0000065	Enlargement of the vaginal lips	EXACT
0000068	Absent urethral opening	EXACT
0000068	Urethral opening absent	EXACT
0000080	Abnormality of genital physiology	BROAD
0000080	Abnormality of reproductive system physiology	EXACT
0000080	Genital functional abnormality	EXACT
0000108	Corticomedullary renal cysts	EXACT
0000108	Renal corticomedullary cystic disease	RELATED
0000128	Renal K wasting	EXACT
0000131	Benign uterine leiomyomas	EXACT
0000131	Uterine fibroid	EXACT
0000134	Hypogonadism, female	EXACT
0000137	Abnormality of the ovaries	EXACT
0000137	Abnormality of the ovary	EXACT
0000137	Ovarian disease	RELATED
0000139	Sagging uterus	EXACT
0000145	Transverse vaginal membrane	EXACT
0000149	Gonadoblastoma, female	EXACT
0000159	Abnormal lip	EXACT
0000159	Abnormality of the lip	EXACT
0000159	Anomaly of lip	NARROW
0000159	Deformity of lip	NARROW
0000159	Lip abnormality	EXACT
0000159	Malformation of lip	NARROW
0000163	Abnormality of the oral cavity	EXACT
0000166	Severe gum disease	BROAD
0000166	Severe periodontal disease	EXACT
0000166	Severe pyorrhea	EXACT
0000168	Abnormality of the gums	EXACT
0000168	Gingival abnormality	EXACT
0000172	Abnormality of palatine uvula	EXACT
0000172	Abnormality of the uvula	EXACT
0000177	Abnormality of upper lip	EXACT
0000177	Anomaly of the upper lip	NARROW
0000177	Deformity of the upper lip	NARROW
0000177	Malformation of the upper lip	NARROW
0000178	Abnormality of lower lip	EXACT
0000178	Anomaly of the lower lip	NARROW
0000178	Deformity of the lower lip	NARROW
0000178	Malformation of the lower lip	NARROW
0000182	Abnormality of lingual movement	EXACT
0000182	Movement abnormality of the tongue	EXACT
0000197	Abnormality of parotid gland	EXACT
0000197	Anomaly of the parotid gland	EXACT
0000198	Absence of parotid duct	EXACT
0000198	Absent stensen duct	EXACT
0000198	Agenesis of parotid duct	NARROW
0000198	Agenesis of stensen duct	NARROW
0000198	Failure of development of parotid duct	EXACT
0000198	Failure of development of stensen duct	EXACT
0000198	Missing parotid duct	EXACT
0000198	Missing stensen duct	EXACT
0000205	Pursed lips	EXACT
0000205	Tightly closed lips	EXACT
0000214	Angioectasias of the lip	RELATED
0000214	Labial angioectasias	RELATED
0000214	Labial telangiectasia	EXACT
0000214	Lip telangiectases	EXACT
0000214	Spider veins of the lip	RELATED
0000214	Telangiectasia of the lips	EXACT
0000216	Secondary alveolar ridges	EXACT
0000222	Hyperkeratosis, gingival	EXACT
0000223	Abnormality of taste sensation	EXACT
0000224	Decreased taste	EXACT
0000224	Decreased taste sensation	EXACT
0000224	Lost taste	EXACT
0000227	Angioectasias of the tongue	RELATED
0000227	Lingual angioectasias	RELATED
0000227	Lingual telangiectasia	EXACT
0000227	Spider veins of the tongue	RELATED
0000234	Abnormal head	EXACT
0000234	Abnormality of the head	EXACT
0000234	Head abnormality	EXACT
0000242	Biparietal bossing	EXACT
0000242	Bossing of parietal bone	EXACT
0000245	Abnormality of the sinuses	BROAD
0000245	Abnormality of the sinuses of the head	EXACT
0000250	Dense skull cap	EXACT
0000264	Abnormality of mastoid process of temporal bone	EXACT
0000267	Abnormality of cranial vault shape	RELATED
0000267	Abnormality of cranium shape	RELATED
0000267	Abnormality of head shape	RELATED
0000267	Asymmetry of cranium	EXACT
0000267	Asymmetry of head	BROAD
0000267	Cranial vault asymmetry	EXACT
0000267	Malformation of cranial vault shape	RELATED
0000267	Malformation of cranium shape	RELATED
0000267	Malformation of head shape	RELATED
0000267	Uneven head shape	BROAD
0000273	Facial grimacing	EXACT
0000277	Abnormality of the lower jaw bone	EXACT
0000277	Abnormality of the mandible	EXACT
0000277	Anomaly of the mandible	NARROW
0000277	Deformity of the lower jaw bone	NARROW
0000277	Deformity of the mandible	NARROW
0000277	Malformation of the lower jaw bone	NARROW
0000277	Malformation of the mandible	NARROW
0000287	Facial fat hyperplasia	NARROW
0000287	Facial fat hypertrophy	NARROW
0000287	Hyperplasia of facial adipose tissue	NARROW
0000287	Hypertrophy of facial adipose tissue	NARROW
0000287	Increased amount of facial adipose tissue	EXACT
0000287	Increased amount of facial fat	EXACT
0000287	Increased volume of facial adipose tissue	EXACT
0000290	Abnormality of the forehead	EXACT
0000290	Abnormality of the frontal region of the face	EXACT
0000290	Anomaly of the forehead	NARROW
0000290	Deformity of the forehead	NARROW
0000290	Malformation of the forehead	NARROW
0000292	Decreased amount of facial adipose tissue	EXACT
0000292	Decreased amount of facial fat	EXACT
0000292	Decreased volume of facial adipose tissue	EXACT
0000292	Loss of facial fat	EXACT
0000292	Loss of facial subcutaneous adipose tissue	EXACT
0000292	Loss of subcutaneous adipose tissue from face	EXACT
0000295	Doll-like facial appearance	EXACT
0000301	Abnormality of facial muscles	EXACT
0000301	Facial muscle issue	EXACT
0000306	Abnormality of the chin	EXACT
0000306	Abnormality of the menton	NARROW
0000306	Anomaly of the chin	NARROW
0000306	Deformity of the chin	NARROW
0000306	Malformation of the chin	NARROW
0000309	Abnormality of the midface	EXACT
0000309	Anomaly of the midface	EXACT
0000309	Deformity of the midface	NARROW
0000309	Malformation of the midface	NARROW
0000315	Abnormality of the eye region	EXACT
0000315	Abnormality of the region around the eyes	EXACT
0000315	Anomaly of the orbital region of the face	NARROW
0000315	Deformity of the orbital region of the face	NARROW
0000315	Malformation of the orbital region of the face	NARROW
0000317	Involuntary facial contraction	EXACT
0000317	Involuntary facial quivering	EXACT
0000320	Bird-like facial appearance	EXACT
0000321	Square face	EXACT
0000321	Square facial shape	EXACT
0000321	Square facies	EXACT
0000326	Abnormality of the upper jaw bone	EXACT
0000326	Abnormality of the upper jaw bones	EXACT
0000326	Anomaly of the maxilla	NARROW
0000326	Deformity of the maxilla	NARROW
0000326	Deformity of the upper jaw bones	NARROW
0000326	Malformation of the maxilla	NARROW
0000326	Malformation of the upper jaw bones	NARROW
0000339	Boxer-like facial appearance	EXACT
0000339	Pugilistic facial appearance	EXACT
0000346	Whistling appearance	EXACT
0000346	Whistling facial appearance	EXACT
0000350	Decreased size of forehead	EXACT
0000350	Decreased size of frontal region of face	EXACT
0000350	Hypoplasia of forehead	NARROW
0000350	Hypotrophic forehead	NARROW
0000350	Small forehead	EXACT
0000357	Abnormal location of ears	EXACT
0000357	External ear position defect	EXACT
0000359	Abnormality of the inner ear	EXACT
0000359	Inner ear abnormality	EXACT
0000370	Middle ear abnormalities	EXACT
0000370	Middle ear abnormality	EXACT
0000371	Acute middle ear infection	EXACT
0000372	Auditory canal abnormality	EXACT
0000375	Abnormality of cochlea	EXACT
0000376	Mondini malformation	RELATED
0000383	Abnormality of the region around the ear	NARROW
0000383	Anomaly of the periauricular region	NARROW
0000383	Deformity of the periauricular region	NARROW
0000383	Malformation of the periauricular region	NARROW
0000417	Slender nose	EXACT
0000419	Abnormality of septum of nose	EXACT
0000419	Abnormality of the nasal septum	EXACT
0000419	Anomaly of nasal septum	EXACT
0000419	Anomaly of septum of nose	EXACT
0000420	Decreased length of nasal septum	EXACT
0000420	Decreased length of septum of nose	EXACT
0000420	Short nasal septum	EXACT
0000420	Short septum of nose	EXACT
0000422	Abnormality of the bridge of the nose	EXACT
0000422	Abnormality of the nasal bridge	EXACT
0000422	Abnormality of the nasal root	EXACT
0000422	Deformity of the bridge of the nose	NARROW
0000422	Deformity of the nasal bridge	NARROW
0000422	Malformation of the bridge of the nose	NARROW
0000422	Malformation of the nasal bridge	NARROW
0000429	Abnormality of the nasal ala	EXACT
0000429	Abnormality of the nasal alar cartilage	NARROW
0000429	Deformity of the nasal ala	NARROW
0000429	Deformity of the nasal alar cartilage	NARROW
0000429	Malformation of the nasal ala	NARROW
0000429	Malformation of the nasal alar cartilage	NARROW
0000433	Abnormality of mucosa of nose	EXACT
0000433	Abnormality of mucous membrane of nose	EXACT
0000433	Abnormality of nasal mucous membrane	EXACT
0000433	Abnormality of the nasal mucosa	EXACT
0000434	Angioectasia of mucosa of nose	EXACT
0000434	Angioectasia of mucous membrane of nose	EXACT
0000434	Angioectasia of nasal mucous membrane	EXACT
0000434	Nasal mucous membrane telangiectasia	EXACT
0000434	Spider veins of mucosa of nose	EXACT
0000434	Spider veins of mucous membrane of nose	EXACT
0000434	Spider veins of nasal mucous membrane	EXACT
0000434	Telangiectasia of mucosa of nose	EXACT
0000434	Telangiectasia of mucous membrane of nose	EXACT
0000434	Telangiectasia of nasal mucous membrane	EXACT
0000447	Pear-shaped nose	EXACT
0000451	Triangular nasal tip	EXACT
0000451	Triangular shaped tip of nose	EXACT
0000454	Flared nasal alae	EXACT
0000454	Flared nostrils	EXACT
0000466	Limited cervical range of motion	EXACT
0000466	Limited neck range of motion	EXACT
0000468	Increased fat around the neck	EXACT
0000471	GI angiodysplasia	EXACT
0000472	Cervical elongation	EXACT
0000472	Elongated neck	EXACT
0000472	Increased cervical length	EXACT
0000472	Increased length of neck	EXACT
0000472	Long neck	EXACT
0000479	Abnormal retina	EXACT
0000479	Abnormality of the retina	EXACT
0000479	Anomaly of the retina	EXACT
0000479	Retina issue	EXACT
0000479	Retinal disease	RELATED
0000481	Abnormality of the cornea	EXACT
0000481	Corneal abnormalities	EXACT
0000481	Corneal abnormality	EXACT
0000481	Cornela disease	RELATED
0000493	Abnormality of the fovea	EXACT
0000517	Abnormality of the lens	EXACT
0000517	Lens disease	RELATED
0000517	Lens issue	EXACT
0000525	Abnormality of the iris	EXACT
0000531	Corneal deposits	EXACT
0000549	Disconjugate eye movements	EXACT
0000552	Blue yellow color blindness	EXACT
0000552	Blue-yellow dyschromatopsia	EXACT
0000552	Blue/yellow color vision defect	RELATED
0000552	Dyschromatopsia, blue-yellow	EXACT
0000555	Leukokoria	EXACT
0000555	White pupillary reflex	EXACT
0000564	Imperforate nasolacrimal ducts	EXACT
0000564	Nasolacrimal duct atresia	EXACT
0000564	Unopened tear duct	EXACT
0000591	Abnormality of the outer white part of eyeball	BROAD
0000591	Abnormality of the sclera	EXACT
0000599	Abnormality of hairline at front of head	EXACT
0000599	Abnormality of the frontal hairline	EXACT
0000606	Abnormality of the region around the eye	NARROW
0000606	Abnormality of the region around the eye socket	NARROW
0000606	Anomaly of the periorbital region	NARROW
0000606	Deformity of the periorbital region	NARROW
0000606	Malformation of the periorbital region	NARROW
0000607	Excess periorbital skin wrinkling	EXACT
0000607	Periorbital rhytids	EXACT
0000607	Periorbital wrinkling	EXACT
0000607	Wrinkles around the eyes	EXACT
0000610	Abnormality of the choroid	EXACT
0000610	Choroid disease	RELATED
0000617	Abnormal smooth pursuits	EXACT
0000617	Disrupted ocular pursuit movements	EXACT
0000617	Impaired smooth pursuit ocular movements	EXACT
0000617	Irregular visual pursuit movements	EXACT
0000619	Convergence insufficiency	EXACT
0000620	Dacrocystitis	EXACT
0000620	Infection of the lacrimal sac	EXACT
0000630	Abnormality of retinal arteries	EXACT
0000630	Retinal arterial abnormality	EXACT
0000633	Decreased tear secretion	EXACT
0000642	Dyschromatopsia with red-green confusion	EXACT
0000642	Red green color blindness	EXACT
0000642	Red/green color vision defect	RELATED
0000652	Cleft lower eyelid	EXACT
0000652	Coloboma of lower eyelid	EXACT
0000652	Full thickness defect of the lower eyelid	EXACT
0000652	Lower lid coloboma	EXACT
0000652	Notched lower eyelid	EXACT
0000658	Difficulty opening the eyelids	EXACT
0000675	Hyperplasia of permanent maxillary central incisor	BROAD
0000675	Hypertrophy of permanent maxillary central incisor	BROAD
0000675	Increased size of permanent maxillary central incisor	BROAD
0000675	Increased size of permanent upper central incisor	BROAD
0000675	Increased width of permanent maxillary central incisor	EXACT
0000675	Increased width of permanent upper central incisor	EXACT
0000675	Large permanent maxillary central incisor	BROAD
0000675	Large permanent upper central incisor	BROAD
0000675	Long maxillary central incisors	EXACT
0000675	Prominent upper incisors	EXACT
0000675	Prominent, protruding upper incisors	EXACT
0000683	Gray colored tooth enamel	EXACT
0000683	Gray tooth shade	EXACT
0000683	Grayish enamel	EXACT
0000683	Greyish enamel	EXACT
0000690	Absence of maxillary lateral incisor	RELATED
0000690	Absence of upper lateral incisor	RELATED
0000690	Absent upper lateral incisors	EXACT
0000690	Failure of development of maxillary lateral incisor	EXACT
0000690	Missing maxillary lateral incisor	RELATED
0000690	Missing upper lateral incisor	RELATED
0000694	Teeth with dentinal dysplasia	EXACT
0000694	Teeth with thin dentin and large pulp chambers	EXACT
0000694	Teeth with type iii dentinogenesis imperfecta	EXACT
0000700	Bone loss around tooth root	RELATED
0000700	Dark spot around tooth root on x-ray	EXACT
0000700	Periapical cyst	RELATED
0000700	Periapical granuloma	RELATED
0000700	Periapical lesion	EXACT
0000700	Periapical radiolucencies	RELATED
0000700	Periapical radiolucency	RELATED
0000706	Failure of eruption of tooth	EXACT
0000706	Pseudo-anodontia	EXACT
0000706	Pseudoanodontia	EXACT
0000706	Unerupted dentition	BROAD
0000706	Unerupted tooth	EXACT
0000710	Hyperoralia	EXACT
0000720	Mood swings	EXACT
0000725	Psychotic episodes	EXACT
0000743	Frontal release reflexes	EXACT
0000745	Diminished motivation	EXACT
0000745	Lack of motivation	EXACT
0000748	Inappropriate laughter	EXACT
0000749	Paroxysmal laughter	EXACT
0000756	Fear of open spaces	EXACT
0000757	Lack of insight	EXACT
0000759	Abnormal peripheral nervous system morphology	EXACT
0000759	Peripheral nervous system disease	RELATED
0000769	Abnormality of the breast	EXACT
0000775	Abnormality of the diaphragm	EXACT
0000775	Diaphragm issues	EXACT
0000775	Diaphragmatic defect	EXACT
0000777	Abnormality of the thymus	EXACT
0000777	Thymic hypoplasia	EXACT
0000782	Abnormality of the shoulder blade	EXACT
0000791	Uric acid stones	EXACT
0000791	Uric acid urolithiasis	EXACT
0000793	Mesangiocapillary glomerulonephritis	EXACT
0000793	MPGN	EXACT
0000794	IgA nephropathy	RELATED
0000795	Urethra issue	EXACT
0000799	Fatty kidney	EXACT
0000803	Cortical cysts	EXACT
0000804	Urinary xanthine stones	EXACT
0000804	Xanthine stones	EXACT
0000811	Abnormal external genitalia	EXACT
0000812	Abnormal internal genitalia	EXACT
0000816	Abnormality of citric acid cycle	EXACT
0000816	Abnormality of the tricarboxylic cycle	EXACT
0000828	Parathyroid disease	RELATED
0000834	Adrenal abnormalities	EXACT
0000834	Adrenal gland disease	RELATED
0000841	Increased plasma renin activity	RELATED
0000860	Small parathyroid glands	EXACT
0000860	Underdeveloped parathyroid glands	EXACT
0000875	Intermittent high blood pressure	EXACT
0000877	Insulin-resistant diabetes mellitus at puberty	EXACT
0000886	Deformed rib cage	EXACT
0000887	Cupped ribs	EXACT
0000887	Rib cupping	EXACT
0000887	Rib flaring	RELATED
0000892	Cleft ribs	EXACT
0000892	Split ribs	EXACT
0000904	Anterior flaring of ribs	EXACT
0000904	Flaring of rib cage	EXACT
0000905	Progressive acroosteolysis of the clavicle	EXACT
0000915	Pectus excavatum inferiorly	EXACT
0000916	Broad collarbone	EXACT
0000917	Pectus carinatum superiorly	EXACT
0000918	Scapulae exostoses	EXACT
0000918	Shoulder bone exostoes	EXACT
0000920	Costochondral thickening	EXACT
0000920	Enlarged costochondral junctions	EXACT
0000920	Prominent costochondral junction	EXACT
0000920	Wide costochondral junctions	EXACT
0000920	Widened costochondral junction	EXACT
0000922	Anterior and posterior rib cupping	EXACT
0000929	Abnormality of the skull	EXACT
0000929	Abnormality of the skull bones	NARROW
0000930	Elevated imprint of occipital bone over the transverse sinuses	EXACT
0000930	Elevated imprint of posterior skull bones over the transverse sinuses	EXACT
0000930	Thinning and bulging of occipital bone over the transverse sinuses	EXACT
0000930	Thinning and bulging of posterior skull bones over the transverse sinuses	EXACT
0000931	Thinning and bulging of occipital bone of skull	NARROW
0000931	Thinning and bulging of posterior fossa bones	EXACT
0000931	Thinning and bulging of posterior skull bones	EXACT
0000932	Abnormality of the posterior fossa	EXACT
0000932	Posterior fossa anomaly	EXACT
0000935	Broad cortex of long bones	EXACT
0000935	Cortical thickening of the long bones	EXACT
0000935	Thickened cortices of long bones	EXACT
0000941	Short shaft of long bone	EXACT
0000947	Dumbbell widening of long bone metaphyses	EXACT
0000947	Dumbbell-shaped long bone	EXACT
0000971	Abnormalities of sweating	RELATED
0000971	Abnormality of the sweat gland	EXACT
0000971	Sweat gland disease	RELATED
0000993	Molluscoid pseudotumor	EXACT
0000999	Pus-filled lesion	EXACT
0001001	Abnormality of fatty tissue below the skin	EXACT
0001014	Angiokeratomas	EXACT
0001026	Penetrating foot ulcers	EXACT
0001027	Soft, doughy skin	EXACT
0001032	Absence of skin creases over distal interphalangeal joints	EXACT
0001032	Aplasia of the distal interphalangeal creases	EXACT
0001032	Distal finger flexion creases absent	EXACT
0001033	Facial flushing after alcohol intake	EXACT
0001041	Blushed cheeks	EXACT
0001041	Blushing	EXACT
0001041	Red face	EXACT
0001041	Red in the face	EXACT
0001041	Rosacea	NARROW
0001041	Ruddy face	RELATED
0001043	Prominent scalp veins	EXACT
0001054	Multiple pigmented nevi	EXACT
0001054	Numerous moles	EXACT
0001055	St. Anthony's Fire	RELATED
0001060	Axillary pterygia	EXACT
0001062	Atypical mole	EXACT
0001062	Dysplastic Nevus	RELATED
0001067	multiple neurofibromas	RELATED
0001067	Neurofibromata	EXACT
0001067	Neurofibromatosis	EXACT
0001069	Hyperhidrosis, episodic	EXACT
0001069	Sporadic excessive sweating	EXACT
0001070	Mottled skin coloring	EXACT
0001070	Stippled pigmentation	RELATED
0001071	Fabry syndrome	EXACT
0001073	'cigarette paper scarring'	EXACT
0001073	Cigarette paper scarring	EXACT
0001073	Cigarette-paper scars	EXACT
0001076	Glabellar capillary hemangioma	EXACT
0001084	Anterior embryotoxon	EXACT
0001084	Arcus juvenilis	RELATED
0001084	Arcus lipoidis	EXACT
0001084	Arcus senilis	EXACT
0001084	Corneal annulus	EXACT
0001084	Gerontoxon	EXACT
0001088	Iris brushfield spots	EXACT
0001088	Speckled iris	RELATED
0001089	Iris degeneration	EXACT
0001092	Absent lacrimal gland puncta	EXACT
0001092	Absent lacrimal openings	EXACT
0001092	Absent lacrimal puncta	EXACT
0001092	Agenesis of the lacrimal punctum	RELATED
0001092	Aplasia of lacrimal puncta	EXACT
0001092	Lacrimal puncta aplasia	EXACT
0001092	Lacrimal punctum, absence	EXACT
0001098	Abnormality of the fundus	EXACT
0001101	Inflammation of iris	EXACT
0001106	Dark circles around the eyes	EXACT
0001106	Dark circles under the eyes	EXACT
0001106	Darkening around the eyes	EXACT
0001106	Idiopathic cutaneous hyperchromia at the orbital region	EXACT
0001106	Infraorbital pigmentation	EXACT
0001106	Periorbital melanosis	EXACT
0001106	Pigmentation around the eyes	EXACT
0001112	Leber optic atrophy features	EXACT
0001112	Leber optic degeneration	EXACT
0001115	Polar cataract, posterior	EXACT
0001116	Coloboma of the macula	EXACT
0001117	Sudden central visual loss	RELATED
0001117	Sudden decrease in vision	BROAD
0001125	Hemianopic blurring	RELATED
0001125	Hemianoptic blurring of vision	EXACT
0001125	Transient unilateral blurred vision	EXACT
0001128	Ingrown eyelashes	EXACT
0001128	Introversion of eyelashes	EXACT
0001128	Trichiasis of eyelid eyelashes	EXACT
0001129	Large central loss of field of vision	EXACT
0001134	Polar cataract, anterior	EXACT
0001136	Tortuous retinal arterioles	EXACT
0001137	Alternating cross eyes	EXACT
0001144	Cyst of eye socket	EXACT
0001144	Orbital cysts	EXACT
0001147	Retinal exudates	EXACT
0001149	Biber haab dimmer dystrophy	EXACT
0001151	Abnormal horizontal ocular pursuit	EXACT
0001151	Impaired horizontal visual pursuit	EXACT
0001153	Double vagina	EXACT
0001194	Abnormalities of placenta or umbilical cord	EXACT
0001196	Short umbilical cord	EXACT
0001197	Abnormality of prenatal development or birth	EXACT
0001204	Fused outermost bones of hand	EXACT
0001204	Symphalangism affecting the distal phalanges of the hand	EXACT
0001204	Symphalangism, distal	EXACT
0001204	Synostosis of distal phalanges	EXACT
0001204	Terminal symphalangism	EXACT
0001211	Abnormality of the fingertips	EXACT
0001220	Interphalangeal joint flexion contractures	EXACT
0001222	Spoon shaped thumbs	EXACT
0001225	Wrist swelling	EXACT
0001227	Thenar abnormality	EXACT
0001230	Wide long bones of hand	EXACT
0001230	Wide metacarpals	EXACT
0001232	Nail bed telangiectases	EXACT
0001234	Abducted thumb	EXACT
0001234	Hitchhiker thumb	EXACT
0001241	Capitate-hamate fusions	EXACT
0001241	Fused capitate and hamate	EXACT
0001241	Fusion of capitate and hamate	EXACT
0001241	Fusion of hamate and capitate	EXACT
0001248	Shortened short tubular bones of the hand	EXACT
0001311	Neurophysiologic abnormalities	EXACT
0001311	Neurophysiologic abnormality	EXACT
0001312	Giant SEPS	EXACT
0001341	Olfactory lobe absence	EXACT
0001384	Abnormality of the hip joint	EXACT
0001384	Abnormality of the hip joints	RELATED
0001403	Macrovesicular steatosis	EXACT
0001404	Death of liver cells	EXACT
0001404	Hepatocellular loss	EXACT
0001430	Abnormal calf muscles	EXACT
0001430	Abnormality of calf musculature	EXACT
0001435	Abnormality of shoulder musculature	EXACT
0001436	Abnormal foot muscles	EXACT
0001440	Fusion of metatarsals	EXACT
0001440	Fusion of the long bones of the feet	EXACT
0001440	Synostosis involving metatarsal bones	EXACT
0001449	Duplication of long bones of foot	EXACT
0001459	Webbed 1st-3rd toes	EXACT
0001460	Absent/small skeletal muscles	EXACT
0001460	Absent/underdeveloped skeletal muscles	EXACT
0001464	Absent/small shoulder muscles	EXACT
0001464	Absent/underdeveloped shoulder muscles	EXACT
0001473	Osteolysis involving metatarsal bones	EXACT
0001477	Compensatory head tilt/chin elevation	EXACT
0001489	Vitreous detachment	EXACT
0001491	CFEOM	EXACT
0001491	Congenital fibrosis of the extraocular muscles	EXACT
0001491	Congenital ophthalmoplegia	EXACT
0001493	Congenital retinal fold	EXACT
0001495	Carpal bone osteolysis	EXACT
0001500	Broad finger	EXACT
0001500	Broad fingers	EXACT
0001500	Wide fingers	EXACT
0001501	6 long bones of hand	EXACT
0001504	Metacarpals osteolysis	EXACT
0001530	Mild growth deficiency	RELATED
0001530	Postnatal onset of mild growth retardation	EXACT
0001544	Prominent belly button	EXACT
0001544	Prominent navel	EXACT
0001551	Abnormal belly button	EXACT
0001551	Abnormal navel	EXACT
0001551	Abnormal umbilicus	EXACT
0001557	Abnormal intrauterine movements	EXACT
0001560	Abnormal amniotic fluid	EXACT
0001571	Impacted teeth	EXACT
0001571	Multiple buried teeth	BROAD
0001571	Multiple impacted teeth	EXACT
0001571	Multiple retained teeth	BROAD
0001579	ACTH-independent hypercortisolemia	RELATED
0001583	Rotatory Nystagmus	EXACT
0001593	Decreased size of maxillary lateral incisor	BROAD
0001593	Decreased size of upper lateral incisor	BROAD
0001593	Decreased width of upper lateral incisor	EXACT
0001593	Hypotrophic maxillary lateral incisor	BROAD
0001593	Hypotrophic upper lateral incisor	BROAD
0001593	Small maxillary lateral incisor	BROAD
0001593	Small upper lateral incisor	BROAD
0001637	Abnormality of the myocardium	EXACT
0001686	Aphonia	EXACT
0001691	Muscular subaortic stenosis	EXACT
0001692	Primary atrial arrhythmia	RELATED
0001697	Abnormality of the pericardium	EXACT
0001705	Right ventricular outlet obstruction	EXACT
0001709	Complete heart block	EXACT
0001709	Third-degree heart block	RELATED
0001710	Conotruncal heart defects	EXACT
0001711	Abnormal heart left ventricle morphology	EXACT
0001711	Abnormality of the left ventricle	EXACT
0001711	Left ventricular abnormality	EXACT
0001713	Abnormality of cardiac ventricle	EXACT
0001735	Acute pancreatic inflammation	EXACT
0001735	Pancreatitis, acute	EXACT
0001742	Blockage of nose	EXACT
0001742	Congestion of nose	NARROW
0001742	Nasal blockage	EXACT
0001742	Nasal congestion	NARROW
0001742	Nasal obstruction	EXACT
0001742	Obstruction of nose	EXACT
0001742	Stuffy nose	EXACT
0001750	Common ventricle	EXACT
0001757	High frequency sensorineural hearing impairment	EXACT
0001757	High-tone sensorineural deafness	EXACT
0001757	High-tone sensorineural hearing impairment	EXACT
0001780	Abnormalities of the toes	EXACT
0001780	Abnormality of toe	EXACT
0001783	Broad metatarsals	RELATED
0001783	Wide long bone of foot	EXACT
0001783	Widened metatarsal shaft	RELATED
0001785	Ankle swelling	EXACT
0001786	Narrow foot	EXACT
0001786	Slender feet	EXACT
0001787	Abnormal delivery	EXACT
0001787	Delivery complication	EXACT
0001809	Longitudinal splitting of nail	EXACT
0001814	Deep-set nails	EXACT
0001821	Broad fingernails	EXACT
0001821	Broad nail	EXACT
0001821	Wide fingernails	EXACT
0001832	Abnormality of the long bone of foot	EXACT
0001842	Acroosteolysis of feet	EXACT
0001844	Abnormalities of the hallux	EXACT
0001844	Abnormality of the big toe	EXACT
0001850	Abnormal ankle bones	EXACT
0001850	Abnormal tarsals	EXACT
0001853	Bifid distal phalanges of toes	EXACT
0001853	Bifid terminal phalanx of toe	EXACT
0001853	Notched outermost bones of toes	EXACT
0001854	Gout of big toe	EXACT
0001857	Hypoplastic distal phalanges of feet	EXACT
0001857	Short outermost bone of toe	EXACT
0001870	Acroosteolysis of distal phalanges of feet	EXACT
0001872	Blood platelet disease	RELATED
0001872	Platelet abnormalities	EXACT
0001872	Thrombasthenia	RELATED
0001877	Abnormality of erythrocytes	EXACT
0001877	Abnormality of erythroid lineage cell	RELATED
0001877	Abnormality of red blood cells	EXACT
0001879	Abnormality of eosinophils	EXACT
0001881	Abnormal leukocyte function	EXACT
0001881	Abnormality of leukocytes	EXACT
0001885	Short second toe	EXACT
0001886	Foot bone infection	EXACT
0001898	Increased RBC mass	EXACT
0001899	Increased Hct	EXACT
0001900	Increased Hb	EXACT
0001905	thrombocytopenia, congenital	EXACT
0001911	Abnormality of granulocytes	EXACT
0001911	Abnormality of neutrophil	EXACT
0001912	Abnormality of basophils	EXACT
0001920	Narrowing of kidney artery	EXACT
0001929	Factor XI deficiency	RELATED
0001929	Low factor XI activity	EXACT
0001953	Diabetic ketosis	EXACT
0001955	Unexplained fevers	EXACT
0001961	Small heart	EXACT
0001961	Underdeveloped heart	EXACT
0001963	Abnormal speech discrimination	EXACT
0001963	Poor speech discrimination	EXACT
0001964	Absent or hypoplastic metatarsal	EXACT
0001964	Absent/hypoplastic metacarpals	EXACT
0001964	Absent/hypoplastic metatarsals	EXACT
0001964	Absent/small long bone of foot	EXACT
0001964	Absent/underdeveloped long bone of foot	EXACT
0001964	Aplastic/hypoplastic metatarsals	EXACT
0001965	Abnormality of the scalp	EXACT
0001965	Anomaly of scalp	EXACT
0001969	Tubulointerstitial nephropathy	RELATED
0001975	Glanzmann thrombasthenia	RELATED
0001975	Reduced level of platelet glycoprotein IIb/IIIa complex	EXACT
0001977	Abnormal blood clot	EXACT
0001978	Extramedullary erythropoiesis	RELATED
0001981	Schistocytes	EXACT
0001982	'Sea blue' histiocytes	EXACT
0001982	Sea-blue histiocyte	EXACT
0001983	Cd43 defectively expressed on surface of blood cells	EXACT
0001983	Reduced lymphocyte surface expression of sialophorin	EXACT
0001986	Hyperosmolar dehydration	EXACT
0001991	Absent/hypoplastic toes	RELATED
0001991	Absent/small toe	EXACT
0001991	Absent/underdeveloped toe	EXACT
0001991	Aplastic/hypoplastic toe phalanges	EXACT
0002010	Decreased breadth of upper jaw bones	EXACT
0002010	Decreased transverse dimension of maxilla	EXACT
0002010	Decreased width of maxilla	EXACT
0002010	Decreased width of upper jaw bones	EXACT
0002010	Narrow upper jaw bones	EXACT
0002010	Transverse hypoplasia of maxilla	EXACT
0002010	Transverse maxillary deficiency	EXACT
0002010	Transverse maxillary insufficiency	EXACT
0002011	Abnormality of the central nervous system	EXACT
0002011	Central nervous system disease	RELATED
0002011	Morphological abnormality of the CNS	EXACT
0002012	Abnormality of the abdominal organs	EXACT
0002012	Gastrointestinal tract defects	EXACT
0002031	Abnormality of esophagus morphology	EXACT
0002031	Anomaly of the esophagus	EXACT
0002034	Abnormality of the rectum	EXACT
0002034	Anomaly of the rectum	EXACT
0002049	Proximal tubular acidosis	EXACT
0002049	Renal tubular acidosis, proximal	EXACT
0002049	Renal tubular acidosis, type II	EXACT
0002054	Heavy brow of the face	EXACT
0002054	Heavy supraorbital ridge	EXACT
0002056	Abnormality of the area between the eyebrows	EXACT
0002056	Deformity of the area between the eyebrows	NARROW
0002056	Glabellar abnormality	EXACT
0002056	Malformation of the area between the eyebrows	NARROW
0002060	Abnormality of the telencephalon	EXACT
0002074	Neuronal lipopigments	RELATED
0002087	Abnormality of the upper respiratory tract	EXACT
0002087	Upper respiratory tract issues	EXACT
0002088	Abnormality of lung morphology	EXACT
0002088	Abnormality of the lungs	EXACT
0002088	Abnormally shaped lung	EXACT
0002088	Lung disease	RELATED
0002088	Unusal lung shape	EXACT
0002108	Spontaneous collapsed lung	EXACT
0002143	Abnormality of the spinal cord	EXACT
0002143	Spinal cord disease	RELATED
0002143	Spinal cord pathology	RELATED
0002154	Elevated blood glycine levels	EXACT
0002154	Hyperglycinaemia	EXACT
0002156	High urine homocystine levels	EXACT
0002157	Azotaemia	EXACT
0002160	Elevated blood homocystine	EXACT
0002160	Homocystinemia	EXACT
0002161	Elevated blood lysine	EXACT
0002165	Nail pterygium	EXACT
0002189	Excessive daytime sleepiness	EXACT
0002200	Pseudobulbar symptoms	EXACT
0002218	Silver-gray hair	EXACT
0002218	Silver-gray hair color	EXACT
0002218	Silvery-gray hair	EXACT
0002219	Increased facial hair growth	EXACT
0002229	Patchy baldness	EXACT
