TaoMedAI/RareMedData huggingface dataset:
Gene: MKKS
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Hydroureter (HP:0000072)
Associated disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Gene: MKKS
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Gene: MKKS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Hypospadias (HP:0000047)
Associated disease: BARDET-BIEDL SYNDROME 6 (OMIM:605231)
Gene: MKKS
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Gene: MKKS
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Mesoaxial hand polydactyly (HP:0006159)
Associated disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Gene: MKKS
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Gene: MKKS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKKS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARDET-BIEDL SYNDROME 6 (OMIM:605231)
Gene: MKKS
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKKS
Phenotype: Celiac disease (HP:0002608)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Cleft palate (HP:0000175)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Rectovaginal fistula (HP:0000143)
Associated disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Gene: MKKS
Phenotype: Transverse vaginal septum (HP:0000145)
Associated disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Gene: MKKS
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Gene: MKKS
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: BARDET-BIEDL SYNDROME 6 (OMIM:605231)
Gene: MKKS
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKKS
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKKS
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Gene: MKKS
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Gene: MKKS
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Renal cyst (HP:0000107)
Associated disease: BARDET-BIEDL SYNDROME 6 (OMIM:605231)
Gene: MKKS
Phenotype: Anal atresia (HP:0002023)
Associated disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Gene: MKKS
Phenotype: Anal atresia (HP:0002023)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Gene: MKKS
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Congenital onset (HP:0003577)
Associated disease: BARDET-BIEDL SYNDROME 6 (OMIM:605231)
Gene: MKKS
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Gene: MKKS
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Pedal edema (HP:0010741)
Associated disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Gene: MKKS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKKS
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKKS
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Short stature (HP:0004322)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Gene: MKKS
Phenotype: Glanular hypospadias (HP:0000807)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Ectopic anus (HP:0004397)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Anxiety (HP:0000739)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Short attention span (HP:0000736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Depression (HP:0000716)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Autism (HP:0000717)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Emotional lability (HP:0000712)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKKS
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKKS
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Infertility (HP:0000789)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: BARDET-BIEDL SYNDROME 6 (OMIM:605231)
Gene: MKKS
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Hypertension (HP:0000822)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: BARDET-BIEDL SYNDROME 6 (OMIM:605231)
Gene: MKKS
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BARDET-BIEDL SYNDROME 6 (OMIM:605231)
Gene: MKKS
Phenotype: Edema (HP:0000969)
Associated disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Gene: MKKS
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKKS
Phenotype: Urethral stricture (HP:0012227)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Vesicovaginal fistula (HP:0001586)
Associated disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Gene: MKKS
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: High palate (HP:0000218)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Gene: MKKS
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Obesity (HP:0001513)
Associated disease: BARDET-BIEDL SYNDROME 6 (OMIM:605231)
Gene: MKKS
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKKS
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Macrotia (HP:0000400)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Astigmatism (HP:0000483)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Strabismus (HP:0000486)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Short neck (HP:0000470)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Cataract (HP:0000518)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKKS
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: BARDET-BIEDL SYNDROME 6 (OMIM:605231)
Gene: MKKS
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: BARDET-BIEDL SYNDROME 6 (OMIM:605231)
Gene: MKKS
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKKS
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Color vision defect (HP:0000551)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKKS
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDF5
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: GDF5
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BRACHYDACTYLY, TYPE A1, C (OMIM:615072)
Gene: GDF5
Phenotype: Brachydactyly (HP:0001156)
Associated disease: DU PAN SYNDROME (OMIM:228900)
Gene: GDF5
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: GDF5
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: GDF5
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Acromesomelic dwarfism; Acromesomelic dysplasia, Hunter-Thompson type (ORPHA:968)
Gene: GDF5
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 2 (OMIM:610017)
Gene: GDF5
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: GDF5
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: GDF5
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: GDF5
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: BRACHYDACTYLY, TYPE A1, C (OMIM:615072)
Gene: GDF5
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: GDF5
Phenotype: Distal tibiofibular synostosis (HP:6000650)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Broad metacarpals (HP:0001230)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: GDF5
Phenotype: Shortening of all middle phalanges of the fingers (HP:0006110)
Associated disease: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
Gene: GDF5
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: GDF5
Phenotype: Cuboidal metacarpal (HP:0006011)
Associated disease: Acromesomelic dwarfism; Acromesomelic dysplasia, Hunter-Thompson type (ORPHA:968)
Gene: GDF5
Phenotype: Cuboidal metacarpal (HP:0006011)
Associated disease: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
Gene: GDF5
Phenotype: Abnormally shaped carpal bones (HP:0006014)
Associated disease: Acromesomelic dwarfism; Acromesomelic dysplasia, Hunter-Thompson type (ORPHA:968)
Gene: GDF5
Phenotype: Abnormally shaped carpal bones (HP:0006014)
Associated disease: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
Gene: GDF5
Phenotype: Distal symphalangism of hands (HP:0001204)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: GDF5
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Stillbirth (HP:0003826)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Malaligned carpal bone (HP:0006092)
Associated disease: DU PAN SYNDROME (OMIM:228900)
Gene: GDF5
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: GDF5
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: ASPED; Angel-shaped phalango-epiphyseal dysplasia (ORPHA:63442)
Gene: GDF5
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Acromesomelic dwarfism; Acromesomelic dysplasia, Hunter-Thompson type (ORPHA:968)
Gene: GDF5
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)