TaoMedAI/RareMedData huggingface dataset:
Gene: GPKOW
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Abnormal pleura morphology (HP:0002103)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Abnormal diencephalon morphology (HP:0010662)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Hydranencephaly (HP:0002324)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Enlarged thorax (HP:0100625)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Microcephaly (HP:0000252)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Low-set ears (HP:0000369)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Micrognathia (HP:0000347)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Short neck (HP:0000470)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: GPKOW
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Morse-Rawnsley-Sargent syndrome; Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (ORPHA:2570)
Gene: BBS9
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Syndactyly (HP:0001159)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Syndactyly (HP:0001159)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS9
Phenotype: Seizure (HP:0001250)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Ataxia (HP:0001251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Polyphagia (HP:0002591)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Spasticity (HP:0001257)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS9
Phenotype: Celiac disease (HP:0002608)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS9
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS9
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Polydactyly (HP:0010442)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Congenital onset (HP:0003577)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS9
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Polydipsia (HP:0001959)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Truncal obesity (HP:0001956)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS9
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Anxiety (HP:0000739)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Short attention span (HP:0000736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Depression (HP:0000716)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Autism (HP:0000717)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Emotional lability (HP:0000712)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS9
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS9
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Infertility (HP:0000789)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Hypertension (HP:0000822)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS9
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Obesity (HP:0001513)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS9
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Macrotia (HP:0000400)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Astigmatism (HP:0000483)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Astigmatism (HP:0000483)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Strabismus (HP:0000486)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Strabismus (HP:0000486)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Short neck (HP:0000470)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Cataract (HP:0000518)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Cataract (HP:0000518)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS9
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS9
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Color vision defect (HP:0000551)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Gene: BBS9
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS9
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS9
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AHDC1
Phenotype: Tapered finger (HP:0001182)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Poor speech (HP:0002465)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Expressive language delay (HP:0002474)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Simple ear (HP:0020206)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Microtia (HP:0008551)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Poor head control (HP:0002421)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Subependymal cysts (HP:0002416)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Bruxism (HP:0003763)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Snoring (HP:0025267)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Snoring (HP:0025267)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Hypertonia (HP:0001276)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Motor delay (HP:0001270)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Motor delay (HP:0001270)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Seizure (HP:0001250)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Seizure (HP:0001250)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)
Gene: AHDC1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Xia-Gibbs syndrome; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
Gene: AHDC1
Phenotype: Hypotonia (HP:0001252)
Associated disease: XIA-GIBBS SYNDROME (OMIM:615829)