TaoMedAI/RareMedData huggingface dataset:
Gene: CACNA1G
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Nystagmus (HP:0000639)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Diplopia (HP:0000651)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Diplopia (HP:0000651)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Impaired vibration sensation at ankles (HP:0006938)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Impaired vibration sensation at ankles (HP:0006938)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Impotence (HP:0000802)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Reduced brain N-acetyl aspartate level by MRS (HP:0012708)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Depression (HP:0000716)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Depression (HP:0000716)
Associated disease: SPINOCEREBELLAR ATAXIA 42 (OMIM:616795)
Gene: CACNA1G
Phenotype: Neurodevelopmental abnormality (HP:0012759)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Short nose (HP:0003196)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Anteverted ears (HP:0040080)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Sparse hair (HP:0008070)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Clinodactyly (HP:0030084)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Strabismus (HP:0000486)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Strabismus (HP:0000486)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Deeply set eye (HP:0000490)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Delayed early-childhood social milestone development (HP:0012434)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: CACNA1G
Phenotype: Hypometric saccades (HP:0000571)
Associated disease: SCA42; Spinocerebellar ataxia type 42 (ORPHA:458803)
Gene: CACNA1G
Phenotype: Hypermetropia (HP:0000540)
Associated disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS (OMIM:618087)
Gene: TIMELESS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ADVANCE SLEEP PHASE SYNDROME, FAMILIAL, 4 (OMIM:620015)
Gene: TIMELESS
Phenotype: Early chronotype (HP:0031873)
Associated disease: ADVANCE SLEEP PHASE SYNDROME, FAMILIAL, 4 (OMIM:620015)
Gene: BCL10
Phenotype: Sporadic (HP:0003745)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: BCL10
Phenotype: Seizure (HP:0001250)
Associated disease: IMMUNODEFICIENCY 37 (OMIM:616098)
Gene: BCL10
Phenotype: Colitis (HP:0002583)
Associated disease: IMMUNODEFICIENCY 37 (OMIM:616098)
Gene: BCL10
Phenotype: Azoospermia (HP:0000027)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: BCL10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 37 (OMIM:616098)
Gene: BCL10
Phenotype: Lymphoma (HP:0002665)
Associated disease: LYMPHOMA, NON-HODGKIN, FAMILIAL (OMIM:605027)
Gene: BCL10
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BCL10
Phenotype: Posterior uveitis (HP:0012123)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BCL10
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: BCL10
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE (OMIM:137245)
Gene: BCL10
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: BCL10
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MESOTHELIOMA, MALIGNANT (OMIM:156240)
Gene: BCL10
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY 37 (OMIM:616098)
Gene: BCL10
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BCL10
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 37 (OMIM:616098)
Gene: BCL10
Phenotype: Constipation (HP:0002019)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BCL10
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BCL10
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BCL10
Phenotype: Status epilepticus (HP:0002133)
Associated disease: IMMUNODEFICIENCY 37 (OMIM:616098)
Gene: BCL10
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BCL10
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 37 (OMIM:616098)
Gene: BCL10
Phenotype: Adult onset (HP:0003581)
Associated disease: LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE (OMIM:137245)
Gene: BCL10
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BCL10
Phenotype: Choriocarcinoma (HP:0100768)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: BCL10
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BCL10
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: IMMUNODEFICIENCY 37 (OMIM:616098)
Gene: BCL10
Phenotype: Teratoma (HP:0009792)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: BCL10
Phenotype: Abnormal nasolacrimal system morphology (HP:0000614)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BCL10
Phenotype: Fever (HP:0001945)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BCL10
Phenotype: Anemia (HP:0001903)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BCL10
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY 37 (OMIM:616098)
Gene: BCL10
Phenotype: Malignant mesothelioma (HP:0100001)
Associated disease: MESOTHELIOMA, MALIGNANT (OMIM:156240)
Gene: BCL10
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BCL10
Phenotype: Gastric lymphoma (HP:0045038)
Associated disease: LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE (OMIM:137245)
Gene: BCL10
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BCL10
Phenotype: Embryonal neoplasm (HP:0002898)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: BCL10
Phenotype: Fatigue (HP:0012378)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BCL10
Phenotype: Decreased proportion of central memory CD4-positive T cells (HP:0410388)
Associated disease: IMMUNODEFICIENCY 37 (OMIM:616098)
Gene: BCL10
Phenotype: Weight loss (HP:0001824)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BCL10
Phenotype: Visual impairment (HP:0000505)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: HERC2
Phenotype: Syndactyly (HP:0001159)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Sporadic (HP:0003745)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Motor delay (HP:0001270)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Seizure (HP:0001250)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Polyphagia (HP:0002591)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Small scrotum (HP:0000046)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Micropenis (HP:0000054)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Scoliosis (HP:0002650)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Narrow palate (HP:0000189)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Hypoventilation (HP:0002791)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Poor suck (HP:0002033)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Temperature instability (HP:0005968)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Low 5-minute APGAR score (HP:0030919)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Low 1-minute APGAR score (HP:0030918)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Sleep apnea (HP:0010535)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Echolalia (HP:0010529)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Congenital onset (HP:0003577)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Poor gross motor coordination (HP:0007015)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Small hand (HP:0200055)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Tube feeding (HP:0033454)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Acromicria (HP:0031878)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Narrow palm (HP:0004283)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Short palm (HP:0004279)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Blue irides (HP:0000635)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Carious teeth (HP:0000670)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Short stature (HP:0004322)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Diminished ability to concentrate (HP:0031987)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Self-mutilation (HP:0000742)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Autism (HP:0000717)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Gene: HERC2
Phenotype: Psychosis (HP:0000709)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Fetal onset (HP:0011461)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Infertility (HP:0000789)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Edema (HP:0000969)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Osteopenia (HP:0000938)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Clinodactyly (HP:0030084)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Kyphosis (HP:0002808)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Class III obesity (HP:0025501)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Genu valgum (HP:0002857)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Obesity (HP:0001513)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: HERC2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)