TaoMedAI/RareMedData huggingface dataset:
Gene: ANO5
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANO5
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: Anoctamin-5-related LGMD R12; Limb-girdle muscular dystrophy type 2L; Anoctamin-5-related limb-girdle muscular dystrophy R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD2L; LGMD type 2L (ORPHA:206549)
Gene: ANO5
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANO5
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CERS3
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 (OMIM:615023)
Gene: CERS3
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 (OMIM:615023)
Gene: CERS3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 (OMIM:615023)
Gene: CERS3
Phenotype: Palmar hyperlinearity (HP:0033252)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 (OMIM:615023)
Gene: CERS3
Phenotype: Congenital onset (HP:0003577)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 (OMIM:615023)
Gene: CERS3
Phenotype: Erythroderma (HP:0001019)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 (OMIM:615023)
Gene: CERS3
Phenotype: Erythroderma (HP:0001019)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: CERS3
Phenotype: Corneal erosion (HP:0200020)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: CERS3
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 (OMIM:615023)
Gene: CERS3
Phenotype: Ectropion (HP:0000656)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 (OMIM:615023)
Gene: CERS3
Phenotype: Ectropion (HP:0000656)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: CERS3
Phenotype: Short stature (HP:0004322)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: CERS3
Phenotype: Pruritus (HP:0000989)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: CERS3
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: CERS3
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 (OMIM:615023)
Gene: CERS3
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: CERS3
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 (OMIM:615023)
Gene: CERS3
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 (OMIM:615023)
Gene: CERS3
Phenotype: Ichthyosis (HP:0008064)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: CERS3
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: CERS3
Phenotype: Alopecia (HP:0001596)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: CERS3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: CERS3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: CERS3
Phenotype: Eclabion (HP:0012472)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 (OMIM:615023)
Gene: CERS3
Phenotype: Keratitis (HP:0000491)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: C2orf69
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Spasticity (HP:0001257)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Death in childhood (HP:0003819)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Arthritis (HP:0001369)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Congenital onset (HP:0003577)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Recurrent fever (HP:0001954)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Short stature (HP:0004322)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Septic arthritis (HP:0003095)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Abdominal distention (HP:0003270)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Death in infancy (HP:0001522)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: C2orf69
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 (OMIM:619423)
Gene: USF3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Seizure (HP:0001250)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Ataxia (HP:0001251)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Enlarged polycystic ovaries (HP:0008675)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Bone cyst (HP:0012062)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Lipoma (HP:0012032)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Abnormal penis morphology (HP:0000036)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Neoplasm (HP:0002664)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Macroglossia (HP:0000158)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Conjunctival hamartoma (HP:0100780)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Fibroma (HP:0010614)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Papule (HP:0200034)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Generalized hyperkeratosis (HP:0005595)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Short stature (HP:0004322)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Hamartomatous polyposis (HP:0004390)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Macule (HP:0012733)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Papilloma (HP:0012740)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Autism (HP:0000717)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Goiter (HP:0000853)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Kyphosis (HP:0002808)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: High palate (HP:0000218)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Melanoma (HP:0002861)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Meningioma (HP:0002858)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Follicular thyroid carcinoma (HP:0006731)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Cataract (HP:0000518)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: USF3
Phenotype: Myopia (HP:0000545)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SAMD9L
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: SAMD9L
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Ataxia-pancytopenia syndrome; Myelocerebellar disorder (ORPHA:2585)
Gene: SAMD9L
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)
Gene: SAMD9L
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Ataxia-pancytopenia syndrome; Myelocerebellar disorder (ORPHA:2585)
Gene: SAMD9L
Phenotype: Ataxia (HP:0001251)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: SAMD9L
Phenotype: Ataxia (HP:0001251)
Associated disease: Ataxia-pancytopenia syndrome; Myelocerebellar disorder (ORPHA:2585)
Gene: SAMD9L
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)
Gene: SAMD9L
Phenotype: Dysarthria (HP:0001260)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: SAMD9L
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)
Gene: SAMD9L
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Ataxia-pancytopenia syndrome; Myelocerebellar disorder (ORPHA:2585)
Gene: SAMD9L
Phenotype: Variable expressivity (HP:0003828)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: SAMD9L
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)
Gene: SAMD9L
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: SAMD9L
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Ataxia-pancytopenia syndrome; Myelocerebellar disorder (ORPHA:2585)
Gene: SAMD9L
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)
Gene: SAMD9L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 1 (OMIM:252270)
Gene: SAMD9L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: SAMD9L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)
Gene: SAMD9L
Phenotype: Dysmetria (HP:0001310)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: SAMD9L
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)
Gene: SAMD9L
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)
Gene: SAMD9L
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)
Gene: SAMD9L
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)
Gene: SAMD9L
Phenotype: Babinski sign (HP:0003487)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: SAMD9L
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)
Gene: SAMD9L
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: SAMD9L
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Ataxia-pancytopenia syndrome; Myelocerebellar disorder (ORPHA:2585)
Gene: SAMD9L
Phenotype: Abnormal platelet function (HP:0011869)
Associated disease: Ataxia-pancytopenia syndrome; Myelocerebellar disorder (ORPHA:2585)
Gene: SAMD9L
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)
Gene: SAMD9L
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Ataxia-pancytopenia syndrome; Myelocerebellar disorder (ORPHA:2585)
Gene: SAMD9L
Phenotype: Acute myelomonocytic leukemia (HP:0004820)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: SAMD9L
Phenotype: Acute myelomonocytic leukemia (HP:0004820)
Associated disease: Ataxia-pancytopenia syndrome; Myelocerebellar disorder (ORPHA:2585)
Gene: SAMD9L
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 1 (OMIM:252270)
Gene: SAMD9L
Phenotype: Unsteady gait (HP:0002317)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: SAMD9L
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)
Gene: SAMD9L
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Ataxia-pancytopenia syndrome; Myelocerebellar disorder (ORPHA:2585)
Gene: SAMD9L
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)
Gene: SAMD9L
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 1 (OMIM:252270)
Gene: SAMD9L
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: SAMD9L
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)
Gene: SAMD9L
Phenotype: Nystagmus (HP:0000639)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: SAMD9L
Phenotype: Nystagmus (HP:0000639)
Associated disease: Ataxia-pancytopenia syndrome; Myelocerebellar disorder (ORPHA:2585)
Gene: SAMD9L
Phenotype: Diplopia (HP:0000651)
Associated disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)
Gene: SAMD9L
Phenotype: Hypoplastic anemia (HP:0001908)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: SAMD9L
Phenotype: Hypoplastic anemia (HP:0001908)
Associated disease: Ataxia-pancytopenia syndrome; Myelocerebellar disorder (ORPHA:2585)
Gene: SAMD9L
Phenotype: Anemia (HP:0001903)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: SAMD9L
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Ataxia-pancytopenia syndrome; Myelocerebellar disorder (ORPHA:2585)
Gene: SAMD9L
Phenotype: Abnormal macrophage morphology (HP:0004311)
Associated disease: Ataxia-pancytopenia syndrome; Myelocerebellar disorder (ORPHA:2585)
Gene: SAMD9L
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: SAMD9L
Phenotype: Dementia (HP:0000726)
Associated disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)
Gene: SAMD9L
Phenotype: Ankle clonus (HP:0011448)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: SAMD9L
Phenotype: Microcephaly (HP:0000252)
Associated disease: Ataxia-pancytopenia syndrome; Myelocerebellar disorder (ORPHA:2585)
Gene: SAMD9L
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 1 (OMIM:252270)
Gene: SAMD9L
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: ATAXIA-PANCYTOPENIA SYNDROME (OMIM:159550)
Gene: SAMD9L
Phenotype: Strabismus (HP:0000486)
Associated disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)
Gene: SAMD9L
Phenotype: Late young adult onset (HP:0025710)
Associated disease: SPINOCEREBELLAR ATAXIA 49 (OMIM:619806)