TaoMedAI/RareMedData huggingface dataset:
Gene: NKX3-2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Pseudoepiphyses of hand bones (HP:0004288)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Short ribs (HP:0000773)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Coxa vara (HP:0002812)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Genu valgum (HP:0002857)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Genu varum (HP:0002970)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Long hallux (HP:0001847)
Associated disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Gene: NKX3-2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NKX3-2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NKX3-2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BARD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: BARD1
Phenotype: Prostate cancer (HP:0012125)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BARD1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: BARD1
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BARD1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: BARD1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BARD1
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BARD1
Phenotype: Melanoma (HP:0002861)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BARD1
Phenotype: Abnormal fallopian tube morphology (HP:0011027)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BARD1
Phenotype: Primary peritoneal carcinoma (HP:0030406)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BAX
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: BAX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BAX
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BAX
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: BAX
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BAX
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BAX
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BAX
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BAX
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BAX
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: BBS1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Syndactyly (HP:0001159)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Syndactyly (HP:0001159)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS1
Phenotype: Seizure (HP:0001250)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Ataxia (HP:0001251)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Ataxia (HP:0001251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Spasticity (HP:0001257)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Micropenis (HP:0000054)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Celiac disease (HP:0002608)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Abnormality of the ovary (HP:0000137)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS1
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Asthma (HP:0002099)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Gait imbalance (HP:0002141)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Congenital onset (HP:0003577)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Poor coordination (HP:0002370)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Hirsutism (HP:0001007)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Nephrogenic diabetes insipidus (HP:0009806)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Biliary tract abnormality (HP:0001080)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Dermatochalasis (HP:0010750)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS1
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS1
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS1
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS1
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS1
Phenotype: Dental crowding (HP:0000678)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS1
Phenotype: Hypodontia (HP:0000668)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BBS1
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Hyperautofluorescent macular lesion (HP:0030631)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Anxiety (HP:0000739)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Short attention span (HP:0000736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: BBS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Depression (HP:0000716)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS1
Phenotype: Autism (HP:0000717)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)