1. Gene
  2. ADA - adenosine deaminase Gene

ADA - adenosine deaminase Gene

Homo sapiens

Also known as ADA1

Gene ID: 100 | Gene type: protein coding

About ADA

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:44,619,522-44,651,699 (from NCBI)

This gene has 61 transcripts (splice variants), 218 orthologues, 2 paralogues and is associated with 4 phenotypes. Biased expression in duodenum (RPKM 234.2) and lymph node (RPKM 16.6).


This gene encodes an Enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA Enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this Enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 2019]

ADA Products(4)

mRNA Protein Name
NM_001322050.2 NP_001308979.1 adenosine deaminase isoform 2
NM_000022.4 NP_000013.2 adenosine deaminase isoform 1
NM_001322051.2 NP_001308980.1 adenosine deaminase isoform 3

ADA Protein Structure


A_deaminase: Adenosine/AMP deaminase (9 - 345)

  • 0
  • 100
  • 200
  • 300
  • 363 a.a.
Protein Preferred Names Protein Names

adenosine deaminase

adenosine aminohydrolase

Recombinant ADA Proteins

Cat. No. Product Name Accession Purity
HY-P74429 Adenosine Deaminase/ADA Protein, Human (sf9, His) P00813 (M1-L363) ≥95%

Related Diseases

Diseases Alias
Tuberculous Empyema

Empyema, Tuberculous

Empyema Tuberculous

Abdominal Tuberculosis
Chronic Granulomatous Disease


Granulomatous Disease, Chronic

Autosomal Recessive Chronic Granulomatous Disease

X-Linked Chronic Granulomatous Disease

Bridges-Good Syndrome

Congenital Dysphagocytosis

Quie Syndrome

Chronic Septic Granulomatosis

Chronic Granulomatous Disorder

Granulomatous Disease Chronic

Granulomatous Disease, Chronic, X-Linked

Pulmonary Tuberculosis

Tuberculosis, Pulmonary


Tuberculosis Pulmonary

Esophageal Tuberculosis

Tuberculosis Of Esophagus

Pigmentation Disease

Pigmentation Disorders

Skin Pigmentation Disorder

Mycosis Fungoides

Mycosis Fungoides Lymphoma

Alibert-Bazin Syndrome

Granuloma Fungoides

Classic Mycosis Fungoides

Mycosis Fungoides, Alibert-Bazin Type


Malaria, Susceptibility To

Malaria, Resistance To

Malaria, Cerebral

Cerebral Malaria

Malaria, Severe, Susceptibility To

Malaria, Severe, Resistance To

Malaria, Cerebral, Susceptibility To

Induced Malaria

Malaria, Vivax, Protection Against

Malaria, Severe

Malaria, Cerebral, Reduced Risk Of

Malaria, Protection Against

Resistance To Malaria Due To G6pd Deficiency

Malaria Due To G6pd Deficiency

Malarial Encephalitis


Malaria Cerebral

Susceptibility To Malaria

Acute Pernicious Fever

Aestivo-Autumnal Fever

Aestivo Autumnal Malaria

Chagres Fever

Continued Malaria Fever

Estivo-Autumnal Fever

Estivo-Autumnal Malaria

Estivo-Autumnal Malarial Fever

Falciparum Fever

Malignant Tertian Fever

Malignant Tertian Malaria

Pernicious Intermittent Fever

Pernicious Malaria

Quotidian Malaria

Subtertian Fever

Subtertian Malaria Fever

Subtertian Malignant Tertian Malaria

Tropical Malaria

Algid Malaria

Bilious Haemoglobinuric Fever

Black Water Fever

Blackwater Fever

Malarial Blackwater Fever

Severe Malarial Falciparum

West African Fever

Malarial Haematinuria

Haemoglobinuric Fever

Haemoglobinuric Malaria

Severe Plasmodium Falciparum Malaria

Malarial Haemoglobinuria

Malarial Haematuria

Falciparum Malaria [Malignant Tertian]

Malaria Tropica

Malarial Shock

Chagres Virus Disease

Malignant Malaria

Mtm - [Malignant Tertian Malaria]

Tm -[Malignant Tertian Malaria]

Panama Fever

St - [Subtertian Malaria]

Malarial Quotidian

Benign Tertian Malaria

Tertian Ague

Vivax Fever

Plasmodium Vivax Malaria Nos

Btm - [Benign Tertian Malaria]

Bt - [Benign Tertian Malaria]

Vivax Malaria

Benign Tertian Vivax Malaria

Tertian Malaria

Quartan Malaria

Quartan Ague

Quartan Fever

Plasmodium Malariae Malaria Nos

Quartan Malarial

Malaria By Plasmodium Malariae

Malariae Malaria

Ovale Tertian Malaria

Plasmodium Ovale Fever

Malaria Fever By Plasmodium Ovale

Ovale Malaria

Malaria By Plasmodium Ovale

Malarial Ovale

Marsh Fever

Remittent Congestive Fever

Coastal Fever

Remittent Gastric Fever

Miasmatic Fever

Congestive Remittent Fever

Intermittent Fever

Jungle Fever


Cameroon Fever


Corsican Fever

Intermittent Bilious Fever

Disease Due To Plasmodiidae

Malarial Fever


Remittent Fever

Roman Fever

Malaria Fever Nos

Malaria Nos

Paludal Fever

Clinically Diagnosed Malaria

Clinically Diagnosed Malaria Without Parasitological Confirmation

Congestive Fever

Malarial Cachexia

Marsh Cachexia

Paludal Cachexia

Recurrent Malaria

Remittent Malaria

Immune Deficiency Disease


Primary Immunodeficiency Disease

Primary Immunodeficiency

Immunologic Deficiency Syndromes


Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm


Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Behcet Syndrome

Behcet Disease

Behcet'S Syndrome

Behcet'S Disease

Behçet Disease


Adamantiades-Behcet Disease

Triple Symptom Complex

Behet'S Syndrome

Bd Syndrome

Behçet Syndrome

Behçet'S Disease

Behçet'S Syndrome

Behcet Triple Symptom Complex

Malignant Aphthosis

Old Silk Route Disease

Adamantiades-Behçet Disease

Pleural Tuberculosis

Pearly Disease

Tuberculosis Of Pleura

Tuberculous Pleurisy

Tuberculous Pleurisy In Primary Progressive Tuberculosis

Tuberculous Pleuritis

Pleurisy Tuberculous

Tuberculosis, Pleural

Serosal Tuberculosis Of Cattle

Central Nervous System Tuberculosis

Intracranial Tuberculoma

Tuberculoma Of Brain

Tuberculosis Of Meninges And Central Nervous System

Tuberculous Abscess Of Brain

Tuberculoma, Intracranial

Tuberculosis, Central Nervous System


Streptococcal Meningitis

Acute Streptococcal Meningitis

Staphylococcal Meningitis

Adenoviral Meningitis

Influenza Meningitis

Influenzal Meningitis

Meningitis Due To H. Influenzae

Cryptococcal Meningitis

Fungal Meningitis Due To Cryptococcus Neoformans

Cryptococcosis Meningitis

Cryptococcus Meningitis

Cryptococcal Meningoencephalitis

Meningitis Due To Cryptococcus

Mumps Virus Meningitis

Mumps Meningitis

Leber Plus Disease

Leber Congenital Amaurosis


Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness


Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia


Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Subacute Delirium


Acute Confusional State Nos


Chronic Obstructive Asthma

Asthma, Diminished Response To Antileukotriene Treatment In

Bronchial Hyperreactivity

Asthma, Susceptibility To

Asthma, Bronchial

Asthma, Protection Against

Asthma, Nocturnal, Susceptibility To

Nocturnal Asthma

Asthma-Related Traits

Asthma-Related Traits, Susceptibility To

Asthma, Nocturnal

Chronic Obstructive Asthma With Acute Exacerbation

Chronic Obstructive Asthma With Status Asthmaticus

Exercise Induced Asthma

Exercise-Induced Asthma

Bronchial Asthma

Asthma, Exercise-Induced

Idiosyncratic Asthma

Unspecified Asthma With Acute Exacerbation

Asthma, Unspecified, With Stated Status Asthmaticus

Status Asthmaticus Nos

Acute Severe Asthma

Acute Severe Bronchial Asthma

Status Asthma

Status Post Asthmaticus

Sarcoid Meningitis

Meningitis In Sarcoidosis

Immunodeficiency 19


Cd3-Delta Deficiency

Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Positive, Nk Cell-Positive

Cd3delta Deficiency

Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Positive

Immunodeficiency 19, Severe Combined


Scid T Cell-Negative, B Cell-Positive, Nk Cell-Positive

T Cell-Negative, B Cell-Positive, Nk Cell-Positive Scid

T Cell-Negative, B Cell-Positive, Nk Cell-Positive Severe Combined Immunodeficiency

Immunodeficiency, Type 19

Human Immunodeficiency Virus Infectious Disease

Hiv Infections

Disorder Of Purine Metabolism

Purine Metabolism Disorder

Cystic Fibrosis



Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Cardiac Tamponade

Pericardial Tamponade

Rose'S Tamponade



Varicella Nos

Pleural Lipoma

Lipoma Of Pleura

Constrictive Pericarditis

Pericarditis, Constrictive

Pericarditis Constrictive

Pericarditis Calculosa

Hutinel-Pick Syndrome

Chronic Tamponade

Chronic Pericardial Constriction

Pick Syndrome Of Heart

Pick Disease Of Heart

Concretio Cordis

Calcareous Pericarditis

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive

Severe Combined Immunodeficiency, B Cell-Negative

T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency

Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency

Scid Due To Complete Rag1/2 Deficiency


Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

Scid, T Cell-Negative, B Cell-Negative, Nk Cell-Positive

Scid, Autosomal Recessive, T-Negative/B-Positive Type

Autosomal Recessive T Cell-Negative, B-Cell Negative, Nk Cell-Positive Scid

Scid Due To Complete Rag1-2 Deficiency

Severe Combined Immunodeficiency Due To Complete Rag1-2 Deficiency

Scid, Ar, T-Cell Negative, B-Cell Negative, Nk Cell-Positive

Severe Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Negative, Nk Cell-Positive

Jak3-Deficient Severe Combined Immunodeficiency

Autosomal Recessive T Cell-Negative, B Cell-Positive, Nk Cell-Negative Severe Combined Immunodeficiency

Autosomal Recessive T-B+Nk- Scid

Jak3 Scid

T Cell-Negative, B Cell-Positive, Nk Cell-Negative Scid

T-B+ Scid Due To Jak3 Deficiency

Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/B-Cell-Negative/Nk-Cell-Positive

Scid T Cell-Negative B Cell-Negative Nk Cell-Positive

Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative/B Cell-Negative/Nk Cell-Positive

Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/B-Cell Negative/Nk-Cell Positive

Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/B-Cell-Positive/Nk-Cell-Negative

Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative/B Cell-Positive/Nk Cell-Negative

Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/B-Cell Positive/Nk-Cell Negative

Immunodeficiency, Severe Combined, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

Immunodeficiency, Severe Combined, Autosomal Recessive, T-Cell Negative, B-Cell Negative, Nk Cell-Positive

Adenosine Deaminase Deficiency

Ada Deficiency


Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

Adenosine Deaminase Deficient Severe Combined Immunodeficiency

Scid Due To Ada Deficiency

Severe Combined Immunodeficiency Due To Ada Deficiency

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency


Scid Due To Adenosine Deaminase Deficiency

Phagocyte Bactericidal Dysfunction

Phagocytic Dysfunction

Primary Bacterial Infectious Disease
Intestinal Tuberculosis

Tuberculosis Of Intestine

Tuberculosis Of Intestines



Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Hairy Cell Leukemia


Hairy Cell Leukemia Variant

Hairy Cell Leukaemia Variant


Leukemic Reticuloendotheliosis

Leukemic Reticuloendotheliosis Variant

Prolymphocytic Variant Of Hcl

Prolymphocytic Variant Of Hairy Cell Leukemia

Leukemia Hairy Cell

Leukemia, Hairy Cell

Leukaemic Reticuloendotheliosis

Lre - [Leukemic Reticuloendotheliosis]

Hairy-Cell Leukaemia, Nos

Hcl - [Hairy Cell Leukaemia]

Hairy-Cell Leukaemia Without Mention Of Remission

Pleural Disease

Pleural Diseases

Disorder Of Pleura

Non-Neoplastic Pleural Disease

Pleural Disorders

Non-Neoplastic Pleural Disorder

Aicardi-Goutieres Syndrome

Aicardi Goutieres Syndrome

Cree Encephalitis

Encephalopathy With Basal Ganglia Calcification

Aicardi-Goutières Syndrome


Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid

Pseudotoxoplasmosis Syndrome

Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis

Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

Aicardi-Goutieres Syndrome 1


Retractile Mesenteritis

Sclerosing Mesenteritis

Acute Generalized Peritonitis

Primary Bacterial Peritonitis

Idiopathic Sclerosing Mesenteritis

Mesenteric Panniculitis

Peritoneal Retractile Mesenteritis

Liposclerotic Mesenteritis

Mesenteric Fibromatosis

Mesenteric Lipodystrophy

Mesenteric Lipogranuloma

Fibromatosis, Abdominal

Peritoneum Inflammation

Peritonitis Of Undetermined Cause

Peritonitis Of Unspecified Cause


Pelvic Peritonitis, Nos

Generalised Peritonitis Nos

Abdominal Peritonitis

Acute Idiopathic Peritonitis

Acute Lesser Sac Peritonitis

Acute Peritoneal Inflammation

Diffuse Peritonitis

Peritoneal Inflammation

Acute Primary Peritonitis

Pneumococcal Peritonitis

Dyschromatosis Symmetrica Hereditaria

Dyschromatosis Symmetrica Hereditaria 1

Reticulate Acropigmentation Of Dohi



Symmetric Dyschromatosis Of The Extremities


Familial Reticulate Acropigmentation Of Dohi

Acropigmentation Of Dohi

Symmetrical Dyschromatosis Of Extremities

Reticular Dysgenesis

Severe Combined Immunodeficiency With Leukopenia

De Vaal Disease

Congenital Aleukia


Hematopoietic Hypoplasia, Generalized

Reticular Dysgenesia

Devaal Disease


Ak2 Deficiency

Congenital Aleukocytosis

Generalized Hematopoietic Hypoplasia

Scid With Leukopenia


Psoriasis 8


Psoriasis Susceptibility 8

Psoriasis 8, Susceptibility To

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia

Aase Syndrome

Erythrogenesis Imperfecta

Anemia, Diamond-Blackfan

Aase-Smith Ii Syndrome


Blackfan-Diamond Anemia

Congenital Prca

Congenital Hypoplastic Anemia

Congenital Hypoplastic Anemia, Blackfan-Diamond Type


Blackfan - Diamond Syndrome

Chronic Constitutional Pure Red Cell Anaemia

Anemia Diamond Blackfan Type

Anemia Congenital Erythroid Hypoplastic

Aregenerative Anemia Chronic Congenital

Blackfan Diamond Syndrome

Red Cell Aplasia, Pure Hereditary

Aase-Smith Syndrome Ii


Blackfan Diamond Anemia

Blackfan-Diamond Disease

Blackfan-Diamond Syndrome

Chronic Congenital Agenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Congenital Pure Red Cell Anemia

Hypoplastic Congenital Anemia

Inherited Erythroblastopenia

Pure Hereditary Red Cell Aplasia

Anemia, Hypoplastic, Congenital

Anemia Hypoplastic Congenital

Fanconi Anemia

Constitutional Aplastic Anemia

Diamond-Blackfan Anemia 1

Aase Smith Syndrome 2

Congenital Red Cell Aplasia

Red Cell Aplasia Of Infants

Pure Red Cell Aplasia Of Infants

Congenital Red Cell Aplastic Anaemia

Congenital Pure Red Cell Anaemia

Congenital Erythroid Hypoplasia

Pearson Marrow-Pancreas Syndrome

Cervical Non-Keratinizing Squamous Cell Carcinoma
Prolymphocytic Leukemia


Prolymphocytic Leukaemia

Leukemia Prolymphocytic

Leukemia, Prolymphocytic

Purine Nucleoside Phosphorylase Deficiency

Purine-Nucleoside Phosphorylase Deficiency

Pnp Deficiency

Nucleoside Phosphorylase Deficiency

Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency

Deficiency Of Inosine Phosphorylase

Pnpase Deficiency


Bacterial Meningitis

Meningitis, Bacterial

Meningitis Bacterial

Bm - [Bacterial Meningitis]

Leptomeningitis Bacterial

Pachymeningitis Bacterial

Arachnoiditis Bacterial

Pericardial Tuberculosis

Pericarditis, Tuberculous

Tuberculous Pericarditis

Pericarditis Tuberculous

Sarcoidosis 1


Boeck Sarcoid

Besnier-Boeck-Schaumann Disease


Sarcoidosis, Susceptibility To, 1


Hodgkin Disease

Boeck'S Disease

Boeck'S Sarcoid

Schaumann'S Disease Or Syndrome

Hutchinson-Boeck Disease Or Syndrome

Acquired Immunodeficiency Syndrome

Acquired Immune Deficiency Syndrome


Acquired Immune Deficiency

Acquired Immunodeficiency

Acquired Immunodeficiency Due To Protein Loss

Lymph Node Tuberculosis

King'S Evil


Tuberculous Adenitis

Tuberculous Lymphadenopathy

Tuberculosis, Lymph Node

Lesch-Nyhan Syndrome

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency


Hprt Deficiency

Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency

X-Linked Hyperuricemia

Choreoathetosis Self-Mutilation Syndrome

Hprt1 Deficiency

Hprt Deficiency, Complete

Deficiency Of Imp Pyrophosphorylase

Hgprt Deficiency

Lesch-Nyhan Disease

Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency

Hg-Prt Deficiency

Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency

Lesch - Nyhan Syndrome

Hprt1 Disorders

Lesch Nyhan Syndrome

Complete Hprt Deficiency Complete

Lesch Nyhan Disease

Complete Hprt Deficiency

Deficiency Of Guanine Phosphoribosyltransferase

Deficiency Of Hypoxanthine Phosphoribosyltransferase

Hypoxanthine Phosphoribosyltransferase Deficiency

Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome

Juvenile Hyperuricemia Syndrome


Primary Hyperuricemia Syndrome

Total Hprt Deficiency

Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency

X-Linked Primary Hyperuricemia

X-Linked Uric Aciduria Enzyme Defect

Hprt Complete Deficiency

Hprt Deficiency Grade Iv

Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv

Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency

Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency

Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia

Acute T Cell Leukemia

Precursor T Lymphoblastic Leukemia

Precursor T-Lymphoblastic Lymphoma/Leukemia

T Acute Lymphoblastic Leukemia

T-Cell Acute Lymphocytic Leukaemia

T-Cell Lymphoblastic Leukemia/Lymphoma

Leukemia T-Cell

Leukemia, T-Cell

Leukemia, Acute, Lymphoblastic, T-Cell

Leukemia, T-Cell Acute Lymphoblastic

Leukemia, Acute T-Cell

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Precursor T-Cell Lymphoblastic Lymphoma

Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Tuberculous Meningitis

Tubercular Meningitis

Tb Meningitis


Meningitis Tuberculous

Tuberculosis, Meningeal

Tbm - [Tuberculous Meningitis]

Meningitis Due To Mycobacterium Tb

Caseous Meningitis

Tuberculous Meninges Adhesions

Tuberculous Leptomeningitis

Meningeal Tuberculosis

Meningeal Tb

Meningeal Tbc - [Tuberculosis]

Gaucher'S Disease

Gaucher Disease

Kerasin Thesaurismosis

Glucocerebrosidase Deficiency

Glucosylceramidase Deficiency

Acid Beta-Glucosidase Deficiency

Glucosylceramide Beta-Glucosidase Deficiency

Acute Cerebral Gaucher Disease

Cerebroside Lipidosis Syndrome

Gaucher Splenomegaly


Glucosyl Cerebroside Lipidosis

Kerasin Lipoidosis

Lipoid Histiocytosis

Glocucerebrosidase Deficiency

Sphingolipidosis 1

Gaucher Syndrome

Gauchers Disease


Glucosylceramide Lipidosis

Kerasin Histiocytosis

Gaucher Disease, Type 1

Gaucher Disease, Type 2

Purine-Pyrimidine Metabolic Disorder

Inborn Errors Of Purine-Pyrimidine Metabolism

Disorder Of Purine Or Pyrimidine Metabolism

Urogenital Tuberculosis

Tuberculosis, Urogenital

Genitourinary Tuberculosis

Congenital Hemolytic Anemia

Anemia Hemolytic Congenital

Anemia, Hemolytic, Congenital

Congenital Hemolytic Anaemia

Hereditary Hemolytic Anaemia

Hereditary Hemolytic Anemia

Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia


Acute Lymphocytic Leukemia

Leukemia, Acute Lymphocytic, Susceptibility To, 1

Acute Lymphoblastic Leukaemia

Precursor Lymphoblastic Lymphoma/Leukemia

Precursor Lymphoid Neoplasm

Leukemia, Acute Lymphoblastic, Susceptibility To

B-Cell Acute Lymphoblastic Leukemia

Leukemia, Acute Lymphocytic 1

Acute Lymphocytic Leukaemia

Acute Lymphoblastic Leukemia/Lymphoma


Childhood Acute Lymphoblastic Leukemia

Leukemia Acute Lymphoblastic 1

Leukemia Acute Lymphoblastic B-Hyperdiploid

Leukemia Acute Lymphocytic

Leukemia Acute Lymphocytic 1

Leukemia B-Cell Acute Lymphoblastic

Leukemia T-Cell Acute Lymphoblastic

Leukemia, Acute Lymphoblastic, 3


Lymphoblastic Leukemia Acute

Leukemia, Acute, Lymphoblastic

Precursor Cell Lymphoblastic Leukemia Lymphoma

Leukemia, Lymphocytic, Acute, L1

Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Tuberculous Peritonitis

Peritonitis, Tuberculous

Peritonitis Tuberculous

Splenic Tuberculosis

Tuberculosis, Splenic

Diamond-Blackfan Anemia 1

Aase Syndrome


Erythrogenesis Imperfecta

Aase-Smith Syndrome Ii


Blackfan-Diamond Syndrome


Anemia, Congenital Hypoplastic, Of Blackfan And Diamond

Anemia, Congenital Erythroid Hypoplastic

Red Cell Aplasia, Pure, Hereditary

Aregenerative Anemia, Chronic Congenital

Rps19-Related Diamond-Blackfan Anemia

Chronic Congenital Aregenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Pure Hereditary Red Cell Aplasia

Anemia, Diamond-Blackfan, Type 1

Anemia, Diamond-Blackfan

Aase Smith Syndrome 2

Familial Hypoplastic Anaemia With Malformations

Constitutional Pure Red Cell Aplasia

Common Variable Immunodeficiency


Common Variable Agammaglobulinemia

Acquired Hypogammaglobulinemia

Common Variable Immune Deficiency

Hypogamma-Globulinemia, Acquired

Idiopathic Immunoglobulin Deficiency

Primary Antibody Deficiency

Primary Hypogammaglobulinemia

Acquired Agammaglobulinemia

Sporadic Hypogammaglobulinemia

Common Variable Hypogamma-Globulinemia

Immunoglobulin Deficiency, Late-Onset

Common Variable Hypogammaglobulinemia

Immunodeficiency, Common Variable

Severe Combined Immunodeficiency


Severe Combined Immunodeficiency Disease

Combined T And B Cell Inborn Immunodeficiency

Immunodeficiency, Severe Combined

Scid - [Severe Combined Immunodeficiencies]

Yellow Nail Syndrome


Lymphedema And Yellow Nails

Lymphedema With Yellow Nails

Lymphedema-Yellow Nails


Hereditary Lymphedema And Yellow Nails

Hereditary Lymphoedema And Yellow Nails

Leukemia, Chronic Myeloid

Chronic Myeloid Leukemia

Chronic Myelogenous Leukemia


Chronic Granulocytic Leukemia

Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib

Chronic Myeloid Leukaemia

Chronic Granulocytic Leukaemia

Chronic Myelogenous Leukaemia

Myeloid Leukemia, Chronic

Leukemia, Chronic Myelogenous

Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic

Cml - Chronic Myelogenous Leukemia


Chronic Myelocytic Leukemia

Leukemia, Chronic Myeloid, Atypical


Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative

Myeloid Leukemia Chronic

Leukemia, Myeloid, Chronic

Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative

Cml- [Chronic Myeloid Leukaemia]

Cgl - [Chronic Granulocytic Leukaemia]

Chronic Myelocytic Leukaemia

Primary Cutaneous T-Cell Non-Hodgkin Lymphoma

Cutaneous T-Cell Lymphoma

Cutaneous T Cell Lymphoma

Lymphoma, T-Cell, Cutaneous


Lymphoma T-Cell Cutaneous

Diabetes Mellitus


Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency


Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect

Gastrointestinal Tuberculosis

Tuberculosis Of Intestines, Peritoneum And Mesenteric Glands

Tuberculosis, Gastrointestinal

Tuberculosis Of Gastrointestinal Tract

Tuberculosis Of Intestines, Peritoneum, And Mesenteric Glands

Neural Tube Defects

Spina Bifida

Neural Tube Defect


Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To


Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos

Bacterial Pneumonia

Gram-Negative Pneumonia

Pneumonia Due To Other Gram-Negative Bacteria

Pneumonia Bacterial

Pneumonia, Bacterial

Acute Bacillus Pneumonia

Acute Bacterial Pneumonia

Bacillus Double Pneumonia

Bacillus Pneumonia

Bacteria Pneumonia

Bacterial Double Pneumonia

Bacterial Lobar Pneumonia

Bacterial Purulent Pneumonia

Bronchopneumonia Due To Bacteria Other Than S. Pneumoniae And H. Influenzae

Cryptococcal Meningitis

Meningitis, Cryptococcal

Meningitis Cryptococcal

Severe Combined Immunodeficiency, X-Linked

X-Linked Severe Combined Immunodeficiency




X-Linked Scid


Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

Scid, X-Linked

Immunodeficiency 4


Gamma Chain Deficiency


X-Linked Combined Immunodeficiency Diseases

Thymic Epithelial Hypoplasia

Severe Combined Immunodeficiency T- B+ Due To Gamma Chain Deficiency

Severe Combined Immunodeficiency T- B+, X-Linked

Il2rg Scid, T- B+ Nk-

T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency

T-B+ Scid Due To Gamma Chain Deficiency

T-B+ Severe Combined Immunodeficiency, X-Linked

Severe Combined Immunodeficiency X-Linked T-Cell-Negative/B-Cell-Positive/Nk-Cell-Negative

Agammaglobulinemia Swiss Type

Scid X-Linked

Severe Combined Immunodeficiency X-Linked T Cell-Negative/B Cell-Positive/Nk Cell-Negative

Severe Combined Immunodeficiency X-Linked T-Cell Negative/B-Cell Positive/Nk-Cell Negative

Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

Leukemia, Chronic Lymphocytic

Chronic Lymphocytic Leukemia

B-Cell Chronic Lymphocytic Leukemia


B-Cell Chronic Lymphoid Leukemia

Chronic Lymphatic Leukemia

Chronic Lymphocytic Leukaemia

Lymphoplasmacytic Leukemia

Small Lymphocytic Lymphoma

Leukemia, Chronic Lymphatic

B-Cell Chronic Lymphocytic Leukaemia

Chronic Lymphatic Leukaemia

Lymphoplasmacytic Leukaemia

B Cell Chronic Lymphocytic Leukemia

Chronic B-Cell Lymphocytic Leukemia

Leukemia, Lymphocytic, Chronic


Chronic Lymphoid Leukemia

Leukemia Lymphocytic Chronic

Lymphoma Small Lymphocytic

Leukemia, Lymphocytic, Chronic, B-Cell

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A



Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Viral Meningitis

Meningitis Viral

Meningitis, Viral

Viral Meningitis Nec

Pericardium Disease
Omenn Syndrome

Histiocytic Medullary Reticulosis

Severe Combined Immunodeficiency With Hypereosinophilia

Combined Immunodeficiency With Hypereosinophilia

Reticuloendotheliosis, Familial, With Eosinophilia

Reticuloendotheliosis Familial With Eosinophilia

Familial Reticuloendotheliosis

Omenn'S Syndrome


Malignant Histiocytosis

Pericardial Effusion

Noninflammatory Pericardial Effusion

Pericardium Effusion

Miliary Tuberculosis

Acute Miliary Tuberculosis

Disseminated Tuberculosis

Tuberculosis, Miliary

Generalized Tuberculosis

Tuberculosis Miliaris Disseminata

Tuberculosis Miliary

Tuberculosis Disseminated

Miliary Tb - [Tuberculosis]

Generalised Tuberculosis

Concato Disease

Diffuse Necrotic Tuberculosis

Diffuse Necrotizing Tuberculosis

Diffuse Tuberculous Degeneration

Diffuse Tuberculous Gangrene

Mtb - [Miliary Tuberculosis]

Miliary Tuberculous

Miliary Tuberculosis Unspecified

Disseminated Miliary Tuberculosis

Disseminated Necrotic Tuberculosis

Disseminated Necrotizing Tuberculosis

Disseminated Tuberculous Gangrene

Disseminated Tuberculous Degeneration

X-Linked Nephrogenic Diabetes Insipidus

Nephrogenic Diabetes Insipidus Type 1


Salpingitis Isthmica Nodosa
Extrapulmonary Tuberculosis


Tuberculosis, Extrapulmonary

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency

Partial Adenosine Deaminase Deficiency

Scid Due To Ada Deficiency

Severe Combined Immunodeficiency Due To Ada Deficiency

Adenosine Deaminase Deficiency, Partial

Adenosine Deaminase Deficiency


Scid Due To Ada Deficiency, Early-Onset

Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/B-Cell-Negative/Nk-Cell-Negative Due To Adenosine Deaminase Deficiency


Ada Deficiency

Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/B-Cell Negative/Nk-Cell Negative Due To Adenosine Deaminase Deficiency

Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/B Cell-Negative/Nk Cell-Negative Due To Adenosine Deaminase Deficiency

Immunodeficiency, Severe Combined, Due To Ada Deficiency

Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

Aseptic Meningitis

Acute Aseptic Meningitis

Meningitis Aseptic

Meningitis, Aseptic

Mycobacterium Tuberculosis 1


Tuberculosis, Susceptibility To


Mycobacterium Tuberculosis, Susceptibility To, 1




Mediterranean Fever

Malta Fever

Undulant Fever

Gibraltar Fever

Bang'S Disease

Maltese Fever

Cyprus Fever

Rock Fever

Brucellosis Infection

Brucella Infection

Bladder Tuberculosis

Tuberculous Cystitis

Tuberculosis Of Bladder

Petrous Apex Meningioma

Meningioma Of The Petrous Ridge

Pleural Empyema



Empyema, Pleural

Abscess Of Pleural Cavity

Abscess Of Thorax

Empyema Of Pleura

Empyema Of Pleura Without Fistula

Empyema With Fistula

Empyema With No Fistula

Empyema With Pleural Fistula

Empyema Without Mention Of Fistula

Empyema, Chest

Lung Empyema

Pleural Empyema With Fistula

Pleural Empyema With No Fistula

Purulent Pleurisy

Purulent Pleuritis

Thorax Abscess


Metachromatic Leukodystrophy

Arylsulfatase A Deficiency


Arsa Deficiency

Sulfatide Lipidosis

Metachromatic Leukoencephalopathy

Cerebral Sclerosis, Diffuse, Metachromatic Form

Cerebroside Sulfatase Deficiency

Leukodystrophy, Metachromatic

Pseudoarylsulfatase A Deficiency

Leukodystrophy Metachromatic


Metachromatic Leukodystrophy, Late Infantile

Metachromatic Leukodystrophy Variant

Deficiency Of Cerebroside-Sulfatase

Scholz Cerebral Sclerosis

Sulfatide Lipoidosis

Cerebral Sclerosis Diffuse Metachromatic Form

Arylsulfatase A Deficiency Disease

Cerebroside Sulphatase Deficiency Disease

Greenfield Disease

Metachromatic Leukodystrophy, Adult

Metachromatic Leukodystrophy, Juvenile

Leukodystrophy Metachromatic Adult

Leukodystrophy Metachromatic Juvenile

Leukodystrophy Metachromatic Late Infantile

Metachromatic Leukodystrophy, Adult Type

Metachromatic Leukodystrophy, Juvenile Type

Metachromatic Leukodystrophy, Infant

Greenfield'S Disease

Granulomatous Disease, Chronic, X-Linked


Chronic Granulomatous Disease, X-Linked

X-Linked Chronic Granulomatous Disease


Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked


X-Linked Chronic Cytochrome B-Negative Granulomatous Disease

Chronic Granulomatous Disease Cytochrome B-Negative X-Linked

Chronic Granulomatous Disease Cytochrome B-Positive X-Linked

Granulomatous Disease, Chronic, X-Linked, Variant

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ADA RGD RGD:2031
Felis catus ADA VGNC VGNC:59568
Macaca mulatta ADA VGNC VGNC:84539
Canis familiaris ADA VGNC VGNC:37568
Mus musculus ADA MGD MGI:87916
Bos taurus ADA VGNC VGNC:25600
Macaca fascicularis ADA NCBI NCBI:102137458