TaoMedAI/RareMedData huggingface dataset:
Gene: EDNRA
Phenotype: Cleft palate (HP:0000175)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Malabsorption (HP:0002024)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Nausea (HP:0002018)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: EDNRA
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Vomiting (HP:0002013)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: EDNRA
Phenotype: Migraine without aura (HP:0002083)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: EDNRA
Phenotype: Asthma (HP:0002099)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Migraine with aura (HP:0002077)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: EDNRA
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Phonophobia (HP:0002183)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: EDNRA
Phenotype: Congenital onset (HP:0003577)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Photophobia (HP:0000613)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: EDNRA
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Dental crowding (HP:0000678)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Lower eyelid coloboma (HP:0000652)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Anxiety (HP:0000739)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Depression (HP:0000716)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Meconium ileus (HP:0004401)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Preauricular pit (HP:0004467)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Male infertility (HP:0003251)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Alopecia (HP:0001596)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Sinusitis (HP:0000246)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Trismus (HP:0000211)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Cupped ear (HP:0000378)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Low-set ears (HP:0000369)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Micrognathia (HP:0000347)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Mandibulofacial dysostosis (HP:0005321)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: EDNRA
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Protruding ear (HP:0000411)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Gene: EDNRA
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRA
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EDNRA
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDNRB
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: EDNRB
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Gene: EDNRB
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: EDNRB
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Gene: EDNRB
Phenotype: Sepsis (HP:0100806)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDNRB
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Gene: EDNRB
Phenotype: Hypotonia (HP:0001252)
Associated disease: WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Gene: EDNRB
Phenotype: Ataxia (HP:0001251)
Associated disease: WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Gene: EDNRB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Gene: EDNRB
Phenotype: Neonatal death (HP:0003811)
Associated disease: ABCD SYNDROME (OMIM:600501)
Gene: EDNRB
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: EDNRB
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: EDNRB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Gene: EDNRB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ABCD SYNDROME (OMIM:600501)
Gene: EDNRB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 (OMIM:600155)
Gene: EDNRB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Gene: EDNRB
Phenotype: Constipation (HP:0002019)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDNRB
Phenotype: Constipation (HP:0002019)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDNRB
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDNRB
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDNRB
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDNRB
Phenotype: Diarrhea (HP:0002014)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDNRB
Phenotype: Delayed passage of meconium (HP:6000224)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDNRB
Phenotype: Congenital onset (HP:0003577)
Associated disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 (OMIM:600155)
Gene: EDNRB
Phenotype: Congenital onset (HP:0003577)
Associated disease: ABCD SYNDROME (OMIM:600501)
Gene: EDNRB
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: EDNRB
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDNRB
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDNRB
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: ABCD SYNDROME (OMIM:600501)
Gene: EDNRB
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Gene: EDNRB
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 (OMIM:600155)
Gene: EDNRB
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: EDNRB
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Gene: EDNRB
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: EDNRB
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: EDNRB
Phenotype: White eyelashes (HP:0002227)
Associated disease: ABCD SYNDROME (OMIM:600501)
Gene: EDNRB
Phenotype: White eyelashes (HP:0002227)
Associated disease: WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Gene: EDNRB
Phenotype: White eyelashes (HP:0002227)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDNRB
Phenotype: White eyebrow (HP:0002226)
Associated disease: ABCD SYNDROME (OMIM:600501)
Gene: EDNRB
Phenotype: White eyebrow (HP:0002226)
Associated disease: WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Gene: EDNRB
Phenotype: White eyebrow (HP:0002226)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDNRB
Phenotype: White forelock (HP:0002211)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: EDNRB
Phenotype: White forelock (HP:0002211)
Associated disease: WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Gene: EDNRB
Phenotype: White forelock (HP:0002211)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDNRB
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDNRB
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Gene: EDNRB
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: EDNRB
Phenotype: Albinism (HP:0001022)
Associated disease: ABCD SYNDROME (OMIM:600501)
Gene: EDNRB
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Gene: EDNRB
Phenotype: Bilious emesis (HP:0034754)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDNRB
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: EDNRB
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: EDNRB
Phenotype: Nystagmus (HP:0000639)
Associated disease: WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Gene: EDNRB
Phenotype: Blue irides (HP:0000635)
Associated disease: WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Gene: EDNRB
Phenotype: Polycythemia (HP:0001901)
Associated disease: ABCD SYNDROME (OMIM:600501)
Gene: EDNRB
Phenotype: Synophrys (HP:0000664)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: EDNRB
Phenotype: Short stature (HP:0004322)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDNRB
Phenotype: Abnormal auditory evoked potentials (HP:0006958)
Associated disease: ABCD SYNDROME (OMIM:600501)
Gene: EDNRB
Phenotype: Enterocolitis (HP:0004387)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: EDNRB
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)