TaoMedAI/RareMedData huggingface dataset:
Gene: ADA
Phenotype: Anti-thyroid peroxidase antibody positivity (HP:0025379)
Associated disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Gene: ADA
Phenotype: Desquamation of skin soon after birth (HP:0007549)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Growth arrest lines (HP:0031164)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Lymphoma (HP:0002665)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Gene: ADA
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Horizontal inferior border of scapula (HP:0031233)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Diarrhea (HP:0002014)
Associated disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Gene: ADA
Phenotype: Diarrhea (HP:0002014)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Asthma (HP:0002099)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Pneumonia (HP:0002090)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Pneumonia (HP:0002090)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Gene: ADA
Phenotype: Infantile onset (HP:0003593)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Decreased circulating IgG2 concentration (HP:0008348)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Erythroderma (HP:0001019)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Thyroiditis (HP:0100646)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Thickened skin (HP:0001072)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Fever (HP:0001945)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Recurrent fever (HP:0001954)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Anemia (HP:0001903)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Abnormal lymphocyte morphology (HP:0004332)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Anterior rib cupping (HP:0000907)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Gene: ADA
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Absent tonsils (HP:0030813)
Associated disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Gene: ADA
Phenotype: Pruritus (HP:0000989)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Skin rash (HP:0000988)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Dry skin (HP:0000958)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Edema (HP:0000969)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Alopecia (HP:0001596)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Sinusitis (HP:0000246)
Associated disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Gene: ADA
Phenotype: Sinusitis (HP:0000246)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Gene: ADA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Absence of lymph node germinal center (HP:0002849)
Associated disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Gene: ADA
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Allergy (HP:0012393)
Associated disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Gene: ADA
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Gene: ADA
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Gene: ADA
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Aplasia of the thymus (HP:0005359)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Absent cellular immunity (HP:0005354)
Associated disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Gene: ADA
Phenotype: Abnormality of humoral immunity (HP:0005368)
Associated disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Gene: ADA
Phenotype: Severe B lymphocytopenia (HP:0005365)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Gene: ADA
Phenotype: Inflammatory abnormality of the skin (HP:0011123)
Associated disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Gene: ADA
Phenotype: Inflammatory abnormality of the skin (HP:0011123)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Reduced red cell adenosine deaminase level (HP:0030273)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Absent specific antibody response (HP:0005424)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Gene: ADA
Phenotype: Short toe (HP:0001831)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Recurrent opportunistic infections (HP:0005390)
Associated disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Gene: ADA
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Gene: ADA
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADAM10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETICULATE ACROPIGMENTATION OF KITAMURA (OMIM:615537)
Gene: ADAM10
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETICULATE ACROPIGMENTATION OF KITAMURA (OMIM:615537)
Gene: ADAM10
Phenotype: Macule (HP:0012733)
Associated disease: RETICULATE ACROPIGMENTATION OF KITAMURA (OMIM:615537)
Gene: ADAM10
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETICULATE ACROPIGMENTATION OF KITAMURA (OMIM:615537)
Gene: ADAM10
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: RETICULATE ACROPIGMENTATION OF KITAMURA (OMIM:615537)
Gene: ADAR
Phenotype: Astrocytosis (HP:0002446)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Hypertonia (HP:0001276)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Hypertonia (HP:0001276)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Seizure (HP:0001250)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Ataxia (HP:0001251)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Dysarthria (HP:0001260)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Spasticity (HP:0001257)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Spasticity (HP:0001257)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Hyperpigmented/hypopigmented macules (HP:0007441)
Associated disease: DYSCHROMATOSIS SYMMETRICA HEREDITARIA (OMIM:127400)
Gene: ADAR
Phenotype: Atrophy/Degeneration involving the caudate nucleus (HP:0007374)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Arthritis (HP:0001369)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)