TaoMedAI/RareMedData huggingface dataset:
Gene: FKBP6
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Peptic ulcer (HP:0004398)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Overfriendliness (HP:0100025)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Anxiety (HP:0000739)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Depression (HP:0000716)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Autism (HP:0000717)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 77 (OMIM:620103)
Gene: FKBP6
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 77 (OMIM:620103)
Gene: FKBP6
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Elfin facies (HP:0004428)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Myopathy (HP:0003198)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Short nose (HP:0003196)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Hypertension (HP:0000822)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 77 (OMIM:620103)
Gene: FKBP6
Phenotype: Multiflagellar spermatozoa (HP:0034309)
Associated disease: SPERMATOGENIC FAILURE 77 (OMIM:620103)
Gene: FKBP6
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Osteopenia (HP:0000938)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Synostosis of joints (HP:0100240)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Flat cornea (HP:0007720)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Epicanthus (HP:0000286)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Narrow face (HP:0000275)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Aortic arch aneurysm (HP:0005113)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Arthralgia (HP:0002829)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Abnormal circulating testosterone concentration (HP:0030087)
Associated disease: SPERMATOGENIC FAILURE 77 (OMIM:620103)
Gene: FKBP6
Phenotype: Kyphosis (HP:0002808)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Microcephaly (HP:0000252)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Redundant skin (HP:0001582)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Genu valgum (HP:0002857)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Obesity (HP:0001513)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Dysphonia (HP:0001618)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Long philtrum (HP:0000343)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Broad forehead (HP:0000337)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: High forehead (HP:0000348)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Micrognathia (HP:0000347)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Pointed chin (HP:0000307)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Macrotia (HP:0000400)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Strabismus (HP:0000486)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Megalocornea (HP:0000485)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Pes planus (HP:0001763)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Protruding ear (HP:0000411)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Cataract (HP:0000518)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Visual impairment (HP:0000505)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Glaucoma (HP:0000501)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Abnormal circulating luteinizing hormone concentration (HP:0030345)
Associated disease: SPERMATOGENIC FAILURE 77 (OMIM:620103)
Gene: FKBP6
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: FKBP6
Phenotype: Myopia (HP:0000545)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: IRS4
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9 (OMIM:301035)
Gene: IRS4
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9 (OMIM:301035)
Gene: IRS4
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9 (OMIM:301035)
Gene: IRS4
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9 (OMIM:301035)
Gene: IRS4
Phenotype: Short stature (HP:0004322)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9 (OMIM:301035)
Gene: IRS4
Phenotype: Inappropriately normal thyroid-stimulating hormone level (HP:0033075)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9 (OMIM:301035)
Gene: IRS4
Phenotype: Decreased circulating free T4 concentration (HP:0033078)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9 (OMIM:301035)
Gene: OGT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Gene: OGT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Gene: OGT
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Gene: OGT
Phenotype: Hypospadias (HP:0000047)
Associated disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Gene: OGT
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Gene: OGT
Phenotype: Open mouth (HP:0000194)
Associated disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Gene: OGT
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Gene: OGT
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Gene: OGT
Phenotype: High hypermetropia (HP:0008499)
Associated disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Gene: OGT
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Gene: OGT
Phenotype: Nystagmus (HP:0000639)
Associated disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Gene: OGT
Phenotype: Amblyopia (HP:0000646)
Associated disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Gene: OGT
Phenotype: Synophrys (HP:0000664)
Associated disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Gene: OGT
Phenotype: Clinodactyly (HP:0030084)
Associated disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Gene: OGT
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Gene: OGT
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Gene: OGT
Phenotype: Low-set ears (HP:0000369)
Associated disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Gene: OGT
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Gene: OGT
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Gene: OGT
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: MENTAL RETARDATION, X-LINKED 106 (OMIM:300997)
Gene: OFD1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: OFD1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (OMIM:300209)
Gene: OFD1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: OFD1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: OFD1
Phenotype: Syndactyly (HP:0001159)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Syndactyly (HP:0001159)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: OFD1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OFD1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 23 (OMIM:300424)
Gene: OFD1
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: RETINITIS PIGMENTOSA 23 (OMIM:300424)
Gene: OFD1
Phenotype: Hypothalamic hamartoma (HP:0002444)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Hypothalamic hamartoma (HP:0002444)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: OFD1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Frequent temper tantrums (HP:0025161)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (OMIM:300209)
Gene: OFD1
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: OFD1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: OFD1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)