TaoMedAI/RareMedData huggingface dataset:
Gene: TOE1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Apnea (HP:0002104)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Opisthotonus (HP:0002179)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Congenital onset (HP:0003577)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Fasciculations (HP:0002380)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Hirsutism (HP:0001007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Nystagmus (HP:0000639)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Nystagmus (HP:0000639)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Synophrys (HP:0000664)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Olivopontocerebellar hypoplasia (HP:0006955)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Abnormal scrotal rugation (HP:0012856)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Epicanthus (HP:0000286)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Epicanthus (HP:0000286)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Microcephaly (HP:0000252)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: High palate (HP:0000218)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: High palate (HP:0000218)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Fatigable weakness of skeletal muscles (HP:0030197)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Low-set ears (HP:0000369)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Micrognathia (HP:0000347)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Micrognathia (HP:0000347)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Macrotia (HP:0000400)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Macrotia (HP:0000400)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Absent penis (HP:0030261)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Microphallus (HP:0030260)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: BUD23
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Stroke (HP:0001297)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Hypotonia (HP:0001252)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Ataxia (HP:0001251)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Dysarthria (HP:0001260)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Spasticity (HP:0001257)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Proteinuria (HP:0000093)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Renal duplication (HP:0000075)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormality of the bladder (HP:0000014)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Nystagmus-induced head nodding (HP:0001361)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Functional abnormality of male internal genitalia (HP:0000025)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Tremor (HP:0001337)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Dysmetria (HP:0001310)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Scoliosis (HP:0002650)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Overriding aorta (HP:0002623)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Macroglossia (HP:0000158)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Wide mouth (HP:0000154)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Malabsorption (HP:0002024)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Constipation (HP:0002019)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Phonophobia (HP:0002183)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Insomnia (HP:0100785)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormal diencephalon morphology (HP:0010662)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Developmental regression (HP:0002376)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Open bite (HP:0010807)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: High hypermetropia (HP:0008499)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Hyperacusis (HP:0010780)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormal gastric mucosa morphology (HP:0004295)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormal tubulointerstitial morphology (HP:0001969)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Blue irides (HP:0000635)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Lacrimation abnormality (HP:0000632)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Microdontia (HP:0000691)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Carious teeth (HP:0000670)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Hypodontia (HP:0000668)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Short stature (HP:0004322)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Abnormal endocardium morphology (HP:0004306)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BUD23
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)