TaoMedAI/RareMedData huggingface dataset:
Gene: GORAB
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: GERODERMA OSTEODYSPLASTICUM (OMIM:231070)
Gene: GORAB
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Microcornea (HP:0000482)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: GORAB
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: GORAB
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: GERODERMA OSTEODYSPLASTICUM (OMIM:231070)
Gene: GORAB
Phenotype: Deeply set eye (HP:0000490)
Associated disease: GERODERMA OSTEODYSPLASTICUM (OMIM:231070)
Gene: GORAB
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Short nail (HP:0001799)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Pes planus (HP:0001763)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Pes planus (HP:0001763)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: GORAB
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GORAB
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: GORAB
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GORAB
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: GORAB
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Shallow orbits (HP:0000586)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Prominent forehead (HP:0011220)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GORAB
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: GORAB
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GORAB
Phenotype: Talipes (HP:0001883)
Associated disease: Geroderma osteodysplastica (ORPHA:2078)
Gene: GORAB
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GORAB
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: GORAB
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NAF1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7 (OMIM:620365)
Gene: NAF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7 (OMIM:620365)
Gene: NAF1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7 (OMIM:620365)
Gene: NAF1
Phenotype: Emphysema (HP:0002097)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7 (OMIM:620365)
Gene: NAF1
Phenotype: Middle age onset (HP:0003596)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7 (OMIM:620365)
Gene: NAF1
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7 (OMIM:620365)
Gene: NAF1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7 (OMIM:620365)
Gene: NAF1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7 (OMIM:620365)
Gene: NAF1
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7 (OMIM:620365)
Gene: NAF1
Phenotype: Anemia (HP:0001903)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7 (OMIM:620365)
Gene: NAF1
Phenotype: Young adult onset (HP:0011462)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7 (OMIM:620365)
Gene: NAF1
Phenotype: Osteopenia (HP:0000938)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7 (OMIM:620365)
Gene: NAF1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7 (OMIM:620365)
Gene: NAF1
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7 (OMIM:620365)
Gene: NAF1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7 (OMIM:620365)
Gene: NAF1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7 (OMIM:620365)
Gene: BBIP1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BARDET-BIEDL SYNDROME 18 (OMIM:615995)
Gene: BBIP1
Phenotype: Syndactyly (HP:0001159)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBIP1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: BARDET-BIEDL SYNDROME 18 (OMIM:615995)
Gene: BBIP1
Phenotype: Seizure (HP:0001250)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Ataxia (HP:0001251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARDET-BIEDL SYNDROME 18 (OMIM:615995)
Gene: BBIP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Spasticity (HP:0001257)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: BARDET-BIEDL SYNDROME 18 (OMIM:615995)
Gene: BBIP1
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARDET-BIEDL SYNDROME 18 (OMIM:615995)
Gene: BBIP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBIP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBIP1
Phenotype: Celiac disease (HP:0002608)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBIP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBIP1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBIP1
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBIP1
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Anxiety (HP:0000739)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Short attention span (HP:0000736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Depression (HP:0000716)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Autism (HP:0000717)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Emotional lability (HP:0000712)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBIP1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBIP1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Infertility (HP:0000789)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Hypertension (HP:0000822)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBIP1
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Obesity (HP:0001513)
Associated disease: BARDET-BIEDL SYNDROME 18 (OMIM:615995)
Gene: BBIP1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBIP1
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Macrotia (HP:0000400)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Astigmatism (HP:0000483)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Strabismus (HP:0000486)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Short neck (HP:0000470)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Cataract (HP:0000518)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Cataract (HP:0000518)
Associated disease: BARDET-BIEDL SYNDROME 18 (OMIM:615995)
Gene: BBIP1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBIP1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: BARDET-BIEDL SYNDROME 18 (OMIM:615995)
Gene: BBIP1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBIP1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BARDET-BIEDL SYNDROME 18 (OMIM:615995)
Gene: BBIP1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Color vision defect (HP:0000551)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBIP1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBIP1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: G6PC3
Phenotype: Sepsis (HP:0100806)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Neonatal omphalitis (HP:0032435)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Varicose veins (HP:0002619)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Cleft palate (HP:0000175)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Erythroid hypoplasia (HP:0012133)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Oral ulcer (HP:0000155)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Urachus fistula (HP:0100525)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Intermittent thrombocytopenia (HP:0004854)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)
Gene: G6PC3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE (OMIM:612541)