TaoMedAI/RareMedData huggingface dataset:
Gene: MED12
Phenotype: Fused teeth (HP:0011090)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Camptodactyly (HP:0012385)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Cupped ear (HP:0000378)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Intrahepatic bile duct cysts (HP:0005209)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Thoracolumbar scoliosis (HP:0002944)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Low-set ears (HP:0000369)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Low-set ears (HP:0000369)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Long philtrum (HP:0000343)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Long philtrum (HP:0000343)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Long philtrum (HP:0000343)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: High forehead (HP:0000348)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: High forehead (HP:0000348)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Micrognathia (HP:0000347)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Micrognathia (HP:0000347)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Micrognathia (HP:0000347)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Micrognathia (HP:0000347)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Micrognathia (HP:0000347)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Short chin (HP:0000331)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Cholangitis (HP:0030151)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Short philtrum (HP:0000322)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Short philtrum (HP:0000322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Triangular face (HP:0000325)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Triangular face (HP:0000325)
Associated disease: BMRS, MKB type; X-linked Ohdo syndrome; BMRS, Maat-Kievit-Brunner type; Blepharophimosis-intellectual disability syndrome, MKB type; Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type (ORPHA:293707)
Gene: MED12
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Premature birth (HP:0001622)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Gastric varix (HP:0030169)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Hypoplasia of the bladder (HP:0005343)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Strabismus (HP:0000486)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Strabismus (HP:0000486)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Strabismus (HP:0000486)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Narrow nose (HP:0000460)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Premature rupture of membranes (HP:0001788)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Broad neck (HP:0000475)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Short neck (HP:0000470)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Abnormal gallbladder morphology (HP:0012437)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Pes planus (HP:0001763)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Choanal atresia (HP:0000453)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Choanal atresia (HP:0000453)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Prominent nose (HP:0000448)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Prominent nose (HP:0000448)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Prominent nose (HP:0000448)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Prominent nose (HP:0000448)
Associated disease: BMRS, MKB type; X-linked Ohdo syndrome; BMRS, Maat-Kievit-Brunner type; Blepharophimosis-intellectual disability syndrome, MKB type; Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type (ORPHA:293707)
Gene: MED12
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Bulbous nose (HP:0000414)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Bulbous nose (HP:0000414)
Associated disease: BMRS, MKB type; X-linked Ohdo syndrome; BMRS, Maat-Kievit-Brunner type; Blepharophimosis-intellectual disability syndrome, MKB type; Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type (ORPHA:293707)
Gene: MED12
Phenotype: Protruding ear (HP:0000411)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Convergence excess esotropia (HP:0031766)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Postnatal macrocephaly (HP:0005490)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Small pituitary gland (HP:0012506)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Overlapping toe (HP:0001845)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Broad toe (HP:0001837)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Ptosis (HP:0000508)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Ptosis (HP:0000508)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Microtia, first degree (HP:0011266)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: BMRS, MKB type; X-linked Ohdo syndrome; BMRS, Maat-Kievit-Brunner type; Blepharophimosis-intellectual disability syndrome, MKB type; Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type (ORPHA:293707)
Gene: MED12
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Prominent forehead (HP:0011220)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Prominent forehead (HP:0011220)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Prominent forehead (HP:0011220)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Hypermetropia (HP:0000540)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED13
Phenotype: Duane anomaly (HP:0009921)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Gene: MED13
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Gene: MED13
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Gene: MED13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Gene: MED13
Phenotype: Wide mouth (HP:0000154)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Gene: MED13
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Gene: MED13
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Gene: MED13
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Gene: MED13
Phenotype: Synophrys (HP:0000664)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Gene: MED13
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Gene: MED13
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Gene: MED13
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Gene: MED13
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Gene: MED13
Phenotype: Speech apraxia (HP:0011098)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Gene: MED13
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Gene: MED13
Phenotype: Hypertelorism (HP:0000316)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Gene: MED13
Phenotype: Generalized myoclonic-atonic seizure (HP:0011170)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Gene: MED13
Phenotype: Chronic constipation (HP:0012450)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Gene: MED13
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Gene: MED13
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 (OMIM:618009)
Gene: NR1H4
Phenotype: Hepatic failure (HP:0001399)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Gene: NR1H4
Phenotype: Cirrhosis (HP:0001394)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Gene: NR1H4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Gene: NR1H4
Phenotype: Tremor (HP:0001337)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Asterixis (HP:0012164)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Gene: NR1H4
Phenotype: Palmar pruritus (HP:0031248)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Pruritus on foot (HP:0030900)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Gene: NR1H4
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Gene: NR1H4
Phenotype: Congenital onset (HP:0003577)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Gene: NR1H4
Phenotype: Pleural effusion (HP:0002202)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Gene: NR1H4
Phenotype: Insomnia (HP:0100785)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Gene: NR1H4
Phenotype: Preeclampsia (HP:0100602)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Abnormality of the digestive system (HP:0025031)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Cholecystitis (HP:0001082)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Gene: NR1H4
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Gene: NR1H4
Phenotype: Abnormal pineal melatonin secretion (HP:0012689)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Gene: NR1H4
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Gene: NR1H4
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Gene: NR1H4
Phenotype: Depression (HP:0000716)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: NR1H4
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)