TaoMedAI/RareMedData huggingface dataset:
Gene: ATP6V1A
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Smooth philtrum (HP:0000319)
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: ATP6V1A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Hypertelorism (HP:0000316)
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: ATP6V1A
Phenotype: Triangular face (HP:0000325)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Aortic tortuosity (HP:0006687)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Macrotia (HP:0000400)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Prominent nasolabial fold (HP:0005272)
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: ATP6V1A
Phenotype: Strabismus (HP:0000486)
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: ATP6V1A
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Downslanted palpebral fissures (HP:0000494)
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: ATP6V1A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Anteverted nares (HP:0000463)
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: ATP6V1A
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Broad nasal tip (HP:0000455)
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: ATP6V1A
Phenotype: Bulbous nose (HP:0000414)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Protruding ear (HP:0000411)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Cataract (HP:0000518)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Hypermetropia (HP:0000540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1B1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS (OMIM:267300)
Gene: ATP6V1B1
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS (OMIM:267300)
Gene: ATP6V1B1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS (OMIM:267300)
Gene: ATP6V1B1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS (OMIM:267300)
Gene: ATP6V1B2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT (OMIM:124480)
Gene: ATP6V1B2
Phenotype: Abnormal finger morphology (HP:0001167)
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: Poor speech (HP:0002465)
Associated disease: Autosomal dominant hearing loss-onychodystrophy syndrome; DDOD syndrome; Autosomal dominant deafness-onychodystrophy syndrome (ORPHA:79499)
Gene: ATP6V1B2
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT (OMIM:124480)
Gene: ATP6V1B2
Phenotype: Severe sensorineural hearing impairment (HP:0008625)
Associated disease: Autosomal dominant hearing loss-onychodystrophy syndrome; DDOD syndrome; Autosomal dominant deafness-onychodystrophy syndrome (ORPHA:79499)
Gene: ATP6V1B2
Phenotype: Triphalangeal thumb (HP:0001199)
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: Triphalangeal thumb (HP:0001199)
Associated disease: DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT (OMIM:124480)
Gene: ATP6V1B2
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Autosomal dominant hearing loss-onychodystrophy syndrome; DDOD syndrome; Autosomal dominant deafness-onychodystrophy syndrome (ORPHA:79499)
Gene: ATP6V1B2
Phenotype: Thickened ears (HP:0009894)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Short distal phalanx of finger (HP:0009882)
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: Generalized hypotonia (HP:0001290)
Associated disease: ZIMMERMANN-LABAND SYNDROME 2 (OMIM:616455)
Gene: ATP6V1B2
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal dominant hearing loss-onychodystrophy syndrome; DDOD syndrome; Autosomal dominant deafness-onychodystrophy syndrome (ORPHA:79499)
Gene: ATP6V1B2
Phenotype: Seizure (HP:0001250)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Hypotonia (HP:0001252)
Associated disease: ZIMMERMANN-LABAND SYNDROME 2 (OMIM:616455)
Gene: ATP6V1B2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ZIMMERMANN-LABAND SYNDROME 2 (OMIM:616455)
Gene: ATP6V1B2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal dominant hearing loss-onychodystrophy syndrome; DDOD syndrome; Autosomal dominant deafness-onychodystrophy syndrome (ORPHA:79499)
Gene: ATP6V1B2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT (OMIM:124480)
Gene: ATP6V1B2
Phenotype: Hyporeflexia (HP:0001265)
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: Global developmental delay (HP:0001263)
Associated disease: ZIMMERMANN-LABAND SYNDROME 2 (OMIM:616455)
Gene: ATP6V1B2
Phenotype: Global developmental delay (HP:0001263)
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: Abnormal fingernail morphology (HP:0001231)
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: Generalized hyperpigmentation (HP:0007440)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Ambiguous genitalia (HP:0000062)
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: Abnormality of the urinary system (HP:0000079)
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: Joint hypermobility (HP:0001382)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Hidrotic ectodermal dysplasia (HP:0007529)
Associated disease: DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT (OMIM:124480)
Gene: ATP6V1B2
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ZIMMERMANN-LABAND SYNDROME 2 (OMIM:616455)
Gene: ATP6V1B2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT (OMIM:124480)
Gene: ATP6V1B2
Phenotype: Myoclonus (HP:0001336)
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: Dandy-Walker malformation (HP:0001305)
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 alveolar ridges (HP:0000187)
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: Narrow palate (HP:0000189)
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 lower lip vermilion (HP:0000179)
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: Open mouth (HP:0000194)
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 uvula (HP:0000193)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Autosomal dominant hearing loss-onychodystrophy syndrome; DDOD syndrome; Autosomal dominant deafness-onychodystrophy syndrome (ORPHA:79499)
Gene: ATP6V1B2
Phenotype: Abnormality of the dentition (HP:0000164)
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: Macroglossia (HP:0000158)
Associated disease: ZIMMERMANN-LABAND SYNDROME 2 (OMIM:616455)
Gene: ATP6V1B2
Phenotype: Macroglossia (HP:0000158)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Bilateral ptosis (HP:0001488)
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: Cleft palate (HP:0000175)
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: Cleft palate (HP:0000175)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Wide mouth (HP:0000154)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)
Gene: ATP6V1B2
Phenotype: Floppy infant (HP:0008947)
Associated disease: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome; Zimmermann-Laband syndrome (ORPHA:3473)