TaoMedAI/RareMedData huggingface dataset:
Gene: TNPO3
Phenotype: Dermatographic urticaria (HP:0011971)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Scapular winging (HP:0003691)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Difficulty running (HP:0009046)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Gastrointestinal inflammation (HP:0004386)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Elevated circulating creatine concentration (HP:0034291)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Joint contracture (HP:0034392)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Pruritus (HP:0000989)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Jaundice (HP:0000952)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Onychomycosis (HP:0012203)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Ascites (HP:0001541)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Fatigue (HP:0012378)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Abnormal intrahepatic bile duct morphology (HP:0011040)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Antimitochondrial antibody positivity (HP:0030167)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Ptosis (HP:0000508)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: RBFOX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: RBFOX2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: RBFOX2
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: RBFOX2
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: RBFOX2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: RBFOX2
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ATP6V0A2
Phenotype: Poor speech (HP:0002465)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Fragmented elastic fibers in the dermis (HP:0025167)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Fragmented elastic fibers in the dermis (HP:0025167)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Subretinal pigment epithelium hemorrhage (HP:0025244)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Motor delay (HP:0001270)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Motor delay (HP:0001270)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Seizure (HP:0001250)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Hypotonia (HP:0001252)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Hypotonia (HP:0001252)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Spasticity (HP:0001257)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Abnormal circulating apolipoprotein concentration (HP:0025201)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Multiple palmar creases (HP:0006114)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Excessive skin wrinkling on dorsum of hands and fingers (HP:0007407)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Neonatal wrinkled skin of hands and feet (HP:0007414)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Thick hair (HP:0100874)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Abnormality of the intrinsic pathway (HP:0010989)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Abnormality of the intrinsic pathway (HP:0010989)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Slurred speech (HP:0001350)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Abnormal subcutaneous fat tissue distribution (HP:0007552)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Palmoplantar cutis laxa (HP:0007517)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Prominent veins on trunk (HP:0007457)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Prominent veins on trunk (HP:0007457)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Lissencephaly (HP:0001339)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Pachygyria (HP:0001302)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Pachygyria (HP:0001302)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Wormian bones (HP:0002645)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Wormian bones (HP:0002645)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Floppy infant (HP:0008947)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Floppy infant (HP:0008947)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Emphysema (HP:0002097)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Emphysema (HP:0002097)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATP6V0A2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Multiple plantar creases (HP:0008113)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Congenital onset (HP:0003577)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Coarse hair (HP:0002208)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Coarse hair (HP:0002208)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Small, conical teeth (HP:0200141)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Abnormality of hair texture (HP:0010719)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Brittle hair (HP:0002299)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Gene: ATP6V0A2
Phenotype: Atrial septal dilatation (HP:0011995)
Associated disease: Wrinkled skin syndrome; Wrinkly skin syndrome; WSS (ORPHA:2834)
Gene: ATP6V0A2
Phenotype: Atrial septal dilatation (HP:0011995)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V0A2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATP6V0A2
Phenotype: Scapular winging (HP:0003691)
Associated disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Gene: ATP6V0A2
Phenotype: Psychomotor deterioration (HP:0002361)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)