TaoMedAI/RareMedData huggingface dataset:
Gene: ATP6V1B2
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: ATP6V1B2
Phenotype: Strabismus (HP:0000486)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: ATP6V1B2
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: ZIMMERMANN-LABAND SYNDROME 2 (OMIM:616455)
Gene: ATP6V1B2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Small nail (HP:0001792)
Associated disease: DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT (OMIM:124480)
Gene: ATP6V1B2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: ATP6V1B2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: ATP6V1B2
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease: ZIMMERMANN-LABAND SYNDROME 2 (OMIM:616455)
Gene: ATP6V1B2
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: ATP6V1B2
Phenotype: Short neck (HP:0000470)
Associated disease: ZIMMERMANN-LABAND SYNDROME 2 (OMIM:616455)
Gene: ATP6V1B2
Phenotype: Short neck (HP:0000470)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Anonychia (HP:0001798)
Associated disease: ZIMMERMANN-LABAND SYNDROME 2 (OMIM:616455)
Gene: ATP6V1B2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT (OMIM:124480)
Gene: ATP6V1B2
Phenotype: Pes planus (HP:0001763)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Pes planus (HP:0001763)
Associated disease: Autosomal dominant hearing loss-onychodystrophy syndrome; DDOD syndrome; Autosomal dominant deafness-onychodystrophy syndrome (ORPHA:79499)
Gene: ATP6V1B2
Phenotype: Abnormal toe morphology (HP:0001780)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: ATP6V1B2
Phenotype: Wide nose (HP:0000445)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Increased urine alpha-ketoglutarate concentration (HP:0012402)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: ATP6V1B2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: ATP6V1B2
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: ATP6V1B2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: ATP6V1B2
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: ZIMMERMANN-LABAND SYNDROME 2 (OMIM:616455)
Gene: ATP6V1B2
Phenotype: Pes cavus (HP:0001761)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Cataract (HP:0000518)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: ATP6V1B2
Phenotype: Cataract (HP:0000518)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: ZIMMERMANN-LABAND SYNDROME 2 (OMIM:616455)
Gene: ATP6V1B2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Telecanthus (HP:0000506)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Autosomal dominant hearing loss-onychodystrophy syndrome; DDOD syndrome; Autosomal dominant deafness-onychodystrophy syndrome (ORPHA:79499)
Gene: ATP6V1B2
Phenotype: Absent toenail (HP:0001802)
Associated disease: DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT (OMIM:124480)
Gene: ATP6V1B2
Phenotype: Absent toenail (HP:0001802)
Associated disease: Autosomal dominant hearing loss-onychodystrophy syndrome; DDOD syndrome; Autosomal dominant deafness-onychodystrophy syndrome (ORPHA:79499)
Gene: ATP6V1B2
Phenotype: Absent fingernail (HP:0001817)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Absent fingernail (HP:0001817)
Associated disease: Autosomal dominant hearing loss-onychodystrophy syndrome; DDOD syndrome; Autosomal dominant deafness-onychodystrophy syndrome (ORPHA:79499)
Gene: ATP6V1B2
Phenotype: Absent fingernail (HP:0001817)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: ATP6V1B2
Phenotype: Absent thumbnail (HP:0012554)
Associated disease: DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT (OMIM:124480)
Gene: ATP6V1B2
Phenotype: Absent thumbnail (HP:0012554)
Associated disease: Autosomal dominant hearing loss-onychodystrophy syndrome; DDOD syndrome; Autosomal dominant deafness-onychodystrophy syndrome (ORPHA:79499)
Gene: ATP6V1B2
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: ATP6V1B2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: ZIMMERMANN-LABAND SYNDROME 2 (OMIM:616455)
Gene: ATP6V1B2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Deep plantar creases (HP:0001869)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Myopia (HP:0000545)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: ATP6V0C
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Multifocal seizures (HP:0031165)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Absent speech (HP:0001344)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Infantile onset (HP:0003593)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Developmental regression (HP:0002376)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Tonic seizure (HP:0032792)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V0C
Phenotype: Infantile spasms (HP:0012469)
Associated disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Gene: ATP6V1E1
Phenotype: Hand clenching (HP:0001188)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
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: ATP6V1E1
Phenotype: Narrow naris (HP:0009933)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
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: ATP6V1E1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
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: ATP6V1E1
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: ATP6V1E1
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: ATP6V1E1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
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: ATP6V1E1
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: ATP6V1E1
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: ATP6V1E1
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: ATP6V1E1
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: ATP6V1E1
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
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: ATP6V1E1
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: ATP6V1E1
Phenotype: Micropenis (HP:0000054)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
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: ATP6V1E1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
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: ATP6V1E1
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: ATP6V1E1
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: ATP6V1E1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
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)