TaoMedAI/RareMedData huggingface dataset:
Gene: EDN1
Phenotype: Ectropion (HP:0000656)
Associated disease: AURICULOCONDYLAR SYNDROME 3 (OMIM:615706)
Gene: EDN1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Vein of Galen aneurysmal malformation (HP:0030713)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Periauricular skin pits (HP:0100277)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Retrognathia (HP:0000278)
Associated disease: AURICULOCONDYLAR SYNDROME 3 (OMIM:615706)
Gene: EDN1
Phenotype: Full cheeks (HP:0000293)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Full cheeks (HP:0000293)
Associated disease: AURICULOCONDYLAR SYNDROME 3 (OMIM:615706)
Gene: EDN1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Question mark ear (HP:0030022)
Associated disease: QUESTION MARK EARS, ISOLATED (OMIM:612798)
Gene: EDN1
Phenotype: Question mark ear (HP:0030022)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Question mark ear (HP:0030022)
Associated disease: AURICULOCONDYLAR SYNDROME 3 (OMIM:615706)
Gene: EDN1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: QUESTION MARK EARS, ISOLATED (OMIM:612798)
Gene: EDN1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Micrognathia (HP:0000347)
Associated disease: AURICULOCONDYLAR SYNDROME 3 (OMIM:615706)
Gene: EDN1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: AURICULOCONDYLAR SYNDROME 3 (OMIM:615706)
Gene: EDN1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Ptosis (HP:0000508)
Associated disease: Question mark ear syndrome; Auriculocondylar syndrome (ORPHA:137888)
Gene: EDN1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDN1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDN3
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: WAARDENBURG SYNDROME, TYPE 4B (OMIM:613265)
Gene: EDN3
Phenotype: Sepsis (HP:0100806)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDN3
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: EDN3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: EDN3
Phenotype: Olfactory lobe agenesis (HP:0001341)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WAARDENBURG SYNDROME, TYPE 4B (OMIM:613265)
Gene: EDN3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WAARDENBURG SYNDROME, TYPE 4B (OMIM:613265)
Gene: EDN3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4 (OMIM:613712)
Gene: EDN3
Phenotype: Constipation (HP:0002019)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDN3
Phenotype: Constipation (HP:0002019)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDN3
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDN3
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: Diarrhea (HP:0002014)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDN3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: EDN3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: EDN3
Phenotype: Delayed passage of meconium (HP:6000224)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDN3
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: EDN3
Phenotype: Congenital onset (HP:0003577)
Associated disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4 (OMIM:613712)
Gene: EDN3
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: EDN3
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDN3
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: WAARDENBURG SYNDROME, TYPE 4B (OMIM:613265)
Gene: EDN3
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4 (OMIM:613712)
Gene: EDN3
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: WAARDENBURG SYNDROME, TYPE 4B (OMIM:613265)
Gene: EDN3
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: White eyelashes (HP:0002227)
Associated disease: WAARDENBURG SYNDROME, TYPE 4B (OMIM:613265)
Gene: EDN3
Phenotype: White eyelashes (HP:0002227)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: White eyebrow (HP:0002226)
Associated disease: WAARDENBURG SYNDROME, TYPE 4B (OMIM:613265)
Gene: EDN3
Phenotype: White eyebrow (HP:0002226)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: White forelock (HP:0002211)
Associated disease: WAARDENBURG SYNDROME, TYPE 4B (OMIM:613265)
Gene: EDN3
Phenotype: White forelock (HP:0002211)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDN3
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: WAARDENBURG SYNDROME, TYPE 4B (OMIM:613265)
Gene: EDN3
Phenotype: Bilious emesis (HP:0034754)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDN3
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: Blue irides (HP:0000635)
Associated disease: WAARDENBURG SYNDROME, TYPE 4B (OMIM:613265)
Gene: EDN3
Phenotype: Synophrys (HP:0000664)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: Short stature (HP:0004322)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDN3
Phenotype: Ganglioneuroma (HP:0003005)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: EDN3
Phenotype: Enterocolitis (HP:0004387)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDN3
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: EDN3
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: EDN3
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDN3
Phenotype: Abdominal distention (HP:0003270)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDN3
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDN3
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDN3
Phenotype: Colon perforation (HP:0031369)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDN3
Phenotype: Growth delay (HP:0001510)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDN3
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDN3
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: Abnormality of the nose (HP:0000366)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: WAARDENBURG SYNDROME, TYPE 4B (OMIM:613265)
Gene: EDN3
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: Ganglioneuroblastoma (HP:0006747)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: EDN3
Phenotype: Weight loss (HP:0001824)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDN3
Phenotype: Telecanthus (HP:0000506)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDN3
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDNRA
Phenotype: Nontuberculous mycobacterial pulmonary infection (HP:0032261)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Microtia (HP:0008551)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Hydroureter (HP:0000072)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: EDNRA
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Glossoptosis (HP:0000162)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)