TaoMedAI/RareMedData huggingface dataset:
Gene: UQCC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)
Gene: UQCC3
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)
Gene: UQCC3
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)
Gene: UQCC3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)
Gene: UQCC3
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)
Gene: UQCC3
Phenotype: Periventricular cysts (HP:0007109)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)
Gene: UQCC3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)
Gene: UQCC3
Phenotype: Severe lactic acidosis (HP:0004900)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)
Gene: UQCC3
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)
Gene: UQCC3
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)
Gene: UQCC3
Phenotype: Elevated lactate:pyruvate ratio (HP:0032653)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)
Gene: UQCC3
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)
Gene: PWRN1
Phenotype: Syndactyly (HP:0001159)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Sporadic (HP:0003745)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Motor delay (HP:0001270)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Seizure (HP:0001250)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Polyphagia (HP:0002591)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Small scrotum (HP:0000046)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Micropenis (HP:0000054)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Hypoventilation (HP:0002791)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Poor suck (HP:0002033)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Temperature instability (HP:0005968)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Low 5-minute APGAR score (HP:0030919)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Low 1-minute APGAR score (HP:0030918)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Congenital onset (HP:0003577)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Poor gross motor coordination (HP:0007015)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Small hand (HP:0200055)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Tube feeding (HP:0033454)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Acromicria (HP:0031878)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Narrow palm (HP:0004283)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Short palm (HP:0004279)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Carious teeth (HP:0000670)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Short stature (HP:0004322)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Autism (HP:0000717)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Psychosis (HP:0000709)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Fetal onset (HP:0011461)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Infertility (HP:0000789)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Edema (HP:0000969)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Osteopenia (HP:0000938)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Kyphosis (HP:0002808)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Class III obesity (HP:0025501)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Genu valgum (HP:0002857)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Obesity (HP:0001513)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Breech presentation (HP:0001623)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Strabismus (HP:0000486)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Short foot (HP:0001773)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Esotropia (HP:0000565)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWRN1
Phenotype: Myopia (HP:0000545)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Syndactyly (HP:0001159)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Sporadic (HP:0003745)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Motor delay (HP:0001270)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Seizure (HP:0001250)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Polyphagia (HP:0002591)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Small scrotum (HP:0000046)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Micropenis (HP:0000054)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Scoliosis (HP:0002650)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Hypoventilation (HP:0002791)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Poor suck (HP:0002033)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Temperature instability (HP:0005968)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Low 5-minute APGAR score (HP:0030919)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Low 1-minute APGAR score (HP:0030918)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Congenital onset (HP:0003577)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Poor gross motor coordination (HP:0007015)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Small hand (HP:0200055)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Tube feeding (HP:0033454)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Acromicria (HP:0031878)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Narrow palm (HP:0004283)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Short palm (HP:0004279)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Carious teeth (HP:0000670)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Short stature (HP:0004322)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Autism (HP:0000717)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Psychosis (HP:0000709)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Fetal onset (HP:0011461)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Infertility (HP:0000789)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Edema (HP:0000969)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Osteopenia (HP:0000938)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Kyphosis (HP:0002808)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Class III obesity (HP:0025501)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Genu valgum (HP:0002857)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Obesity (HP:0001513)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Breech presentation (HP:0001623)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Strabismus (HP:0000486)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Short foot (HP:0001773)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Esotropia (HP:0000565)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: SNORD116-1
Phenotype: Myopia (HP:0000545)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MINAR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 120 (OMIM:620238)
Gene: MINAR2
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 120 (OMIM:620238)
Gene: MINAR2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 120 (OMIM:620238)
Gene: CIROP
Phenotype: Right aortic arch (HP:0012020)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Congenital onset (HP:0003577)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Partial anomalous pulmonary venous return (HP:0010773)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)