TaoMedAI/RareMedData huggingface dataset:
Gene: AMMECR1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Broad forehead (HP:0000337)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Strabismus (HP:0000486)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Strabismus (HP:0000486)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: AMMECR1
Phenotype: Short neck (HP:0000470)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Pes planus (HP:0001763)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Cataract (HP:0000518)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Esotropia (HP:0000565)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMMECR1
Phenotype: Talipes (HP:0001883)
Associated disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
Gene: AMMECR1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMMECR1
Phenotype: Myopia (HP:0000545)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: TNFSF15
Phenotype: Hepatic encephalopathy (HP:0002480)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Xanthelasma (HP:0001114)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Biliary cirrhosis (HP:0002613)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Celiac disease (HP:0002608)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Hepatitis (HP:0012115)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Dermatographic urticaria (HP:0011971)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Gastrointestinal inflammation (HP:0004386)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Pruritus (HP:0000989)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Jaundice (HP:0000952)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Onychomycosis (HP:0012203)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Ascites (HP:0001541)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Fatigue (HP:0012378)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Abnormal intrahepatic bile duct morphology (HP:0011040)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Antimitochondrial antibody positivity (HP:0030167)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNFSF15
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MED12
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Split hand (HP:0001171)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Syndactyly (HP:0001159)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Thick nasal alae (HP:0009928)
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: Simple ear (HP:0020206)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: High anterior hairline (HP:0009890)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Microtia (HP:0008551)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Microtia (HP:0008551)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Abnormally folded helix (HP:0008544)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Motor delay (HP:0001270)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Seizure (HP:0001250)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Seizure (HP:0001250)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Seizure (HP:0001250)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Seizure (HP:0001250)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Hypotonia (HP:0001252)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Hypotonia (HP:0001252)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Hypotonia (HP:0001252)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Global developmental delay (HP:0001263)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Spasticity (HP:0001257)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Cyst of the ductus choledochus (HP:0100890)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Impaired growth-hormone response to glucagon stimulation test (HP:0031082)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Tall stature (HP:0000098)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Cholestasis (HP:0001396)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Hepatic failure (HP:0001399)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Cirrhosis (HP:0001394)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: MED12-related Hardikar syndrome; HDKR; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Hardikar syndrome (ORPHA:1415)
Gene: MED12
Phenotype: Hydroureter (HP:0000072)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Small scrotum (HP:0000046)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Flexion contracture (HP:0001371)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Micropenis (HP:0000054)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Macroorchidism (HP:0000053)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Gene: MED12
Phenotype: Macroorchidism (HP:0000053)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Hypospadias (HP:0000047)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Hypospadias (HP:0000047)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Absent speech (HP:0001344)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Scoliosis (HP:0002650)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: MED12
Phenotype: Scoliosis (HP:0002650)
Associated disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Gene: MED12
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Gene: MED12
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Celiac disease (HP:0002608)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Narrow palate (HP:0000189)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: HARDIKAR SYNDROME (OMIM:301068)
Gene: MED12
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Gene: MED12
Phenotype: Open mouth (HP:0000194)
Associated disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)