TaoMedAI/RareMedData huggingface dataset:
Gene: GJB6
Phenotype: Posterior blepharitis (HP:0025610)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Angular cheilitis (HP:0030318)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Blepharitis (HP:0000498)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: GJB6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290)
Gene: GJB6
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: GJB6
Phenotype: Strabismus (HP:0000486)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Keratitis (HP:0000491)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Small nail (HP:0001792)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Small nail (HP:0001792)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Anonychia (HP:0001798)
Associated disease: Hidrotic ectodermal dysplasia; Clouston syndrome (ORPHA:189)
Gene: GJB6
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 1B (OMIM:612645)
Gene: GJB6
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290)
Gene: GJB6
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Gene: GJB6
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Recurrent bacterial skin infections (HP:0005406)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Recurrent candida infections (HP:0005401)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Cataract (HP:0000518)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Onycholysis (HP:0001806)
Associated disease: CLOUSTON SYNDROME (OMIM:129500)
Gene: GJB6
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: GJB6
Phenotype: Visual loss (HP:0000572)
Associated disease: Senter syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; KID/HID syndrome; Ichthyosis hystrix Rheydt type; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; KID syndrome (ORPHA:477)
Gene: SDCCAG8
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Syndactyly (HP:0001159)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SDCCAG8
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: SDCCAG8
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SENIOR-LOKEN SYNDROME 7 (OMIM:613615)
Gene: SDCCAG8
Phenotype: Seizure (HP:0001250)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Ataxia (HP:0001251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Ataxia (HP:0001251)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: SDCCAG8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: SDCCAG8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Spasticity (HP:0001257)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: SENIOR-LOKEN SYNDROME 7 (OMIM:613615)
Gene: SDCCAG8
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: SDCCAG8
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SDCCAG8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SENIOR-LOKEN SYNDROME 7 (OMIM:613615)
Gene: SDCCAG8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SDCCAG8
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: SDCCAG8
Phenotype: Celiac disease (HP:0002608)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SDCCAG8
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SDCCAG8
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Renal cyst (HP:0000107)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Renal agenesis (HP:0000104)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Respiratory distress (HP:0002098)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Polydactyly (HP:0010442)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: SDCCAG8
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: SDCCAG8
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Bronchiolitis (HP:0011950)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SDCCAG8
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: SDCCAG8
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SDCCAG8
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Short stature (HP:0004322)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: SDCCAG8
Phenotype: Short stature (HP:0004322)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: SDCCAG8
Phenotype: Anxiety (HP:0000739)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Short attention span (HP:0000736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Depression (HP:0000716)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Autism (HP:0000717)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Emotional lability (HP:0000712)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SDCCAG8
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SDCCAG8
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Infertility (HP:0000789)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Hypertension (HP:0000822)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Hypertension (HP:0000822)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: SDCCAG8
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: SDCCAG8
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SDCCAG8
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Obesity (HP:0001513)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SDCCAG8
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Macrotia (HP:0000400)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Astigmatism (HP:0000483)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Strabismus (HP:0000486)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Short neck (HP:0000470)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Cataract (HP:0000518)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Cataract (HP:0000518)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: SDCCAG8
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SDCCAG8
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: SDCCAG8
Phenotype: Visual impairment (HP:0000505)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: SDCCAG8
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SDCCAG8
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: SDCCAG8
Phenotype: Color vision defect (HP:0000551)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Gene: SDCCAG8
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: SENIOR-LOKEN SYNDROME 7 (OMIM:613615)
Gene: SDCCAG8
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SDCCAG8
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SDCCAG8
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPLX1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)