TaoMedAI/RareMedData huggingface dataset:
Gene: BBS2
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: BARDET-BIEDL SYNDROME 2 (OMIM:615981)
Gene: BBS2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS2
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS2
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: RETINITIS PIGMENTOSA 74 (OMIM:616562)
Gene: BBS2
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: BARDET-BIEDL SYNDROME 2 (OMIM:615981)
Gene: BBS2
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BARDET-BIEDL SYNDROME 2 (OMIM:615981)
Gene: BBS2
Phenotype: Obesity (HP:0001513)
Associated disease: RETINITIS PIGMENTOSA 74 (OMIM:616562)
Gene: BBS2
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Obesity (HP:0001513)
Associated disease: BARDET-BIEDL SYNDROME 2 (OMIM:615981)
Gene: BBS2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS2
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: BARDET-BIEDL SYNDROME 2 (OMIM:615981)
Gene: BBS2
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: BARDET-BIEDL SYNDROME 2 (OMIM:615981)
Gene: BBS2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Round face (HP:0000311)
Associated disease: BARDET-BIEDL SYNDROME 2 (OMIM:615981)
Gene: BBS2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: BARDET-BIEDL SYNDROME 2 (OMIM:615981)
Gene: BBS2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: BARDET-BIEDL SYNDROME 2 (OMIM:615981)
Gene: BBS2
Phenotype: Moderate myopia (HP:0031624)
Associated disease: BARDET-BIEDL SYNDROME 2 (OMIM:615981)
Gene: BBS2
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS2
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: BARDET-BIEDL SYNDROME 2 (OMIM:615981)
Gene: BBS2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS2
Phenotype: Macrotia (HP:0000400)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BARDET-BIEDL SYNDROME 2 (OMIM:615981)
Gene: BBS2
Phenotype: Astigmatism (HP:0000483)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Strabismus (HP:0000486)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BARDET-BIEDL SYNDROME 2 (OMIM:615981)
Gene: BBS2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: BARDET-BIEDL SYNDROME 2 (OMIM:615981)
Gene: BBS2
Phenotype: Short neck (HP:0000470)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Short neck (HP:0000470)
Associated disease: BARDET-BIEDL SYNDROME 2 (OMIM:615981)
Gene: BBS2
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: BARDET-BIEDL SYNDROME 2 (OMIM:615981)
Gene: BBS2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Cataract (HP:0000518)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 74 (OMIM:616562)
Gene: BBS2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: BARDET-BIEDL SYNDROME 2 (OMIM:615981)
Gene: BBS2
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS2
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: BARDET-BIEDL SYNDROME 2 (OMIM:615981)
Gene: BBS2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS2
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: RETINITIS PIGMENTOSA 74 (OMIM:616562)
Gene: BBS2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS2
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS2
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Color vision defect (HP:0000551)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS2
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS2
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: BARDET-BIEDL SYNDROME 2 (OMIM:615981)
Gene: BBS2
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 74 (OMIM:616562)
Gene: BBS2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS4
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BARDET-BIEDL SYNDROME 4 (OMIM:615982)
Gene: BBS4
Phenotype: Syndactyly (HP:0001159)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Syndactyly (HP:0001159)
Associated disease: BARDET-BIEDL SYNDROME 4 (OMIM:615982)
Gene: BBS4
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS4
Phenotype: Seizure (HP:0001250)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Ataxia (HP:0001251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARDET-BIEDL SYNDROME 4 (OMIM:615982)
Gene: BBS4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Spasticity (HP:0001257)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: BARDET-BIEDL SYNDROME 4 (OMIM:615982)
Gene: BBS4
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BARDET-BIEDL SYNDROME 4 (OMIM:615982)
Gene: BBS4
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARDET-BIEDL SYNDROME 4 (OMIM:615982)
Gene: BBS4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS4
Phenotype: Celiac disease (HP:0002608)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BARDET-BIEDL SYNDROME 4 (OMIM:615982)
Gene: BBS4
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BARDET-BIEDL SYNDROME 4 (OMIM:615982)
Gene: BBS4
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS4
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Renal cyst (HP:0000107)
Associated disease: BARDET-BIEDL SYNDROME 4 (OMIM:615982)
Gene: BBS4
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Polydactyly (HP:0010442)
Associated disease: BARDET-BIEDL SYNDROME 4 (OMIM:615982)
Gene: BBS4
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Congenital onset (HP:0003577)
Associated disease: BARDET-BIEDL SYNDROME 4 (OMIM:615982)
Gene: BBS4
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS4
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BARDET-BIEDL SYNDROME 4 (OMIM:615982)
Gene: BBS4
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Anxiety (HP:0000739)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Short attention span (HP:0000736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Depression (HP:0000716)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Autism (HP:0000717)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Emotional lability (HP:0000712)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS4
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS4
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Infertility (HP:0000789)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Hypertension (HP:0000822)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: BARDET-BIEDL SYNDROME 4 (OMIM:615982)
Gene: BBS4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS4
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Obesity (HP:0001513)
Associated disease: BARDET-BIEDL SYNDROME 4 (OMIM:615982)
Gene: BBS4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS4
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Macrotia (HP:0000400)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Astigmatism (HP:0000483)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Strabismus (HP:0000486)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Short neck (HP:0000470)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Cataract (HP:0000518)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: BARDET-BIEDL SYNDROME 4 (OMIM:615982)
Gene: BBS4
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS4
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Color vision defect (HP:0000551)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: BARDET-BIEDL SYNDROME 4 (OMIM:615982)
Gene: BBS4
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS4
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BCAT2
Phenotype: Hyperisoleucinemia (HP:0010913)
Associated disease: HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA (OMIM:618850)
Gene: BCAT2
Phenotype: Hyperleucinemia (HP:0010911)
Associated disease: HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA (OMIM:618850)
Gene: BCAT2
Phenotype: Hypervalinemia (HP:0010910)
Associated disease: HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA (OMIM:618850)
Gene: BCAT2
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA (OMIM:618850)
Gene: BCAT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA (OMIM:618850)
Gene: BCAT2
Phenotype: Headache (HP:0002315)
Associated disease: HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA (OMIM:618850)
Gene: BCAT2
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA (OMIM:618850)
Gene: BCAT2
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA (OMIM:618850)