TaoMedAI/RareMedData huggingface dataset:
Gene: ERF
Phenotype: Turricephaly (HP:0000262)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Malar flattening (HP:0000272)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Abnormal sacrum morphology (HP:0005107)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Overfolded helix (HP:0000396)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Narrow forehead (HP:0000341)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Long philtrum (HP:0000343)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: High forehead (HP:0000348)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Interstitial emphysema (HP:0032965)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Strabismus (HP:0000486)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Flat occiput (HP:0005469)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Proptosis (HP:0000520)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERF
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Proptosis (HP:0000520)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Proptosis (HP:0000520)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Hallux valgus (HP:0001822)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Ptosis (HP:0000508)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: ERF
Phenotype: Finger hyperphalangy (HP:0030367)
Associated disease: CHITAYAT SYNDROME (OMIM:617180)
Gene: ERF
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Gene: ERF
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ERF
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ERG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHATIC MALFORMATION 14 (OMIM:620602)
Gene: ERG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHATIC MALFORMATION 14 (OMIM:620602)
Gene: ERG
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ERG
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ESR1
Phenotype: Increased serum estradiol (HP:0025134)
Associated disease: ESTROGEN RESISTANCE (OMIM:615363)
Gene: ESR1
Phenotype: Marked delay in bone age (HP:0003799)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Enlarged polycystic ovaries (HP:0008675)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Tall stature (HP:0000098)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: ESTROGEN RESISTANCE (OMIM:615363)
Gene: ESR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ESTROGEN RESISTANCE (OMIM:615363)
Gene: ESR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: ESR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: ESR1
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: ESTROGEN RESISTANCE (OMIM:615363)
Gene: ESR1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: ESR1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: ESTROGEN RESISTANCE (OMIM:615363)
Gene: ESR1
Phenotype: Nausea (HP:0002018)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: ESR1
Phenotype: Vomiting (HP:0002013)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: ESR1
Phenotype: Migraine without aura (HP:0002083)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: ESR1
Phenotype: Migraine with aura (HP:0002077)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: ESR1
Phenotype: Impaired glucose tolerance (HP:0040270)
Associated disease: ESTROGEN RESISTANCE (OMIM:615363)
Gene: ESR1
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Phonophobia (HP:0002183)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: ESR1
Phenotype: Breast aplasia (HP:0100783)
Associated disease: ESTROGEN RESISTANCE (OMIM:615363)
Gene: ESR1
Phenotype: Elevated tissue non-specific alkaline phosphatase (HP:0010679)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Elevated alkaline phosphatase of bone origin (HP:0010639)
Associated disease: ESTROGEN RESISTANCE (OMIM:615363)
Gene: ESR1
Phenotype: Acne (HP:0001061)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Acne (HP:0001061)
Associated disease: ESTROGEN RESISTANCE (OMIM:615363)
Gene: ESR1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ESTROGEN RESISTANCE (OMIM:615363)
Gene: ESR1
Phenotype: Abnormality of the pubic hair (HP:0100133)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Photophobia (HP:0000613)
Associated disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Gene: ESR1
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: ESTROGEN RESISTANCE (OMIM:615363)
Gene: ESR1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: ESR1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: ESTROGEN RESISTANCE (OMIM:615363)
Gene: ESR1
Phenotype: Abnormal circulating hormone concentration (HP:0003117)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Abnormality of the adrenal glands (HP:0000834)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: ESTROGEN RESISTANCE (OMIM:615363)
Gene: ESR1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: ESTROGEN RESISTANCE (OMIM:615363)
Gene: ESR1
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: ESTROGEN RESISTANCE (OMIM:615363)
Gene: ESR1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Osteopenia (HP:0000938)
Associated disease: ESTROGEN RESISTANCE (OMIM:615363)
Gene: ESR1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Abnormal circulating testosterone concentration (HP:0030087)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Overgrowth (HP:0001548)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR1
Phenotype: Increased circulating osteocalcin level (HP:0031428)
Associated disease: ESTROGEN RESISTANCE (OMIM:615363)
Gene: ESR1
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: Estrogen resistance syndrome (ORPHA:785)
Gene: ESR2
Phenotype: Eunuchoid habitus (HP:0003782)
Associated disease: OVARIAN DYSGENESIS 8 (OMIM:618187)
Gene: ESR2
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: OVARIAN DYSGENESIS 8 (OMIM:618187)
Gene: ESR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OVARIAN DYSGENESIS 8 (OMIM:618187)
Gene: ESR2
Phenotype: Decreased circulating antimullerian hormone circulation (HP:0031103)
Associated disease: OVARIAN DYSGENESIS 8 (OMIM:618187)
Gene: ESR2
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: OVARIAN DYSGENESIS 8 (OMIM:618187)
Gene: ESR2
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: OVARIAN DYSGENESIS 8 (OMIM:618187)
Gene: ESR2
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: OVARIAN DYSGENESIS 8 (OMIM:618187)
Gene: ESR2
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: OVARIAN DYSGENESIS 8 (OMIM:618187)
Gene: ESR2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OVARIAN DYSGENESIS 8 (OMIM:618187)
Gene: ESR2
Phenotype: Early young adult onset (HP:0025708)
Associated disease: OVARIAN DYSGENESIS 8 (OMIM:618187)
Gene: ESRRB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 35 (OMIM:608565)
Gene: ESRRB
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 35 (OMIM:608565)
Gene: ESRRB
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 35 (OMIM:608565)
Gene: ESRRB
Phenotype: Abnormal ear morphology (HP:0031703)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 35 (OMIM:608565)
Gene: ESRRB
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 35 (OMIM:608565)
Gene: ETFA
Phenotype: Hypotonia (HP:0001252)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Neonatal death (HP:0003811)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Pachygyria (HP:0001302)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Hepatic periportal necrosis (HP:0002614)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Nausea (HP:0002018)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Vomiting (HP:0002013)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Gliosis (HP:0002171)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Elevated circulating glutaric acid concentration (HP:0003530)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Electron transfer flavoprotein-ubiquinone oxidoreductase defect (HP:0003647)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Acidosis (HP:0001941)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Glycosuria (HP:0003076)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Renal cortical cysts (HP:0000803)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Glutaric aciduria (HP:0003150)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Ethylmalonic aciduria (HP:0003219)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Jaundice (HP:0000952)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Generalized aminoaciduria (HP:0002909)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: High forehead (HP:0000348)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Elevated urinary 5-hydroxyhexanoic acid level (HP:0025734)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Developmental cataract (HP:0000519)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFA
Phenotype: Telecanthus (HP:0000506)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Hypotonia (HP:0001252)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Neonatal death (HP:0003811)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Pachygyria (HP:0001302)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Hepatic periportal necrosis (HP:0002614)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)