At a Glance
X-linked sideroblastic anemia with ataxia;
3-Methylglutaconic aciduria type 2;
3-methylglutaconic aciduria, type VIIB
more...
⨉
X-linked sideroblastic anemia with ataxia
3-Methylglutaconic aciduria type 2
3-methylglutaconic aciduria, type VIIB
Acquired hemoglobin H disease
Acquired polycythemia vera
Acute lymphoid leukemia
Acute myeloid leukemia
Adrenocortical carcinoma, hereditary
Alpha thalassemia-X-linked intellectual disability syndrome
Anauxetic dysplasia 1
Aplastic anemia
Ataxia-pancytopenia syndrome
Ataxia-telangiectasia syndrome
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Autoimmune lymphoproliferative syndrome type 1
Autoimmune lymphoproliferative syndrome type 1, autosomal recessive
Autoimmune lymphoproliferative syndrome type 4
Autoimmune lymphoproliferative syndrome, type 1b
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
Autosomal dominant aplasia and myelodysplasia
Autosomal dominant nonsyndromic hearing loss 17
Autosomal recessive osteopetrosis 1
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
BLOOD GROUP--LUTHERAN INHIBITOR
Basal cell carcinoma, susceptibility to, 7
Bernard Soulier syndrome
Bernard-Soulier syndrome, type A2, autosomal dominant
Beta-thalassemia-X-linked thrombocytopenia syndrome
Bloom syndrome
Bone marrow failure syndrome 3
Bone marrow failure syndrome 4
Bone marrow failure syndrome 5
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 4
Budd-Chiari syndrome
CBL-related disorder
Café-au-lait macules with pulmonary stenosis
Carcinoma of pancreas
Cardiofaciocutaneous syndrome 2
Celiac disease, susceptibility to, 3
Cerebral arteriovenous malformation
Cerebroretinal microangiopathy with calcifications and cysts 1
Cerebroretinal microangiopathy with calcifications and cysts 2
Charcot-Marie-Tooth disease type 4B2
Choroid plexus papilloma
Chédiak-Higashi syndrome
Colorectal cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Combined immunodeficiency due to GINS1 deficiency
Combined immunodeficiency due to STIM1 deficiency
Complete trisomy 21 syndrome
Congenital amegakaryocytic thrombocytopenia
Congenital diarrhea 5 with tufting enteropathy
Congenital dyserythropoietic anemia type 4
Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type II
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Cowden syndrome 7
Cyclical neutropenia
DDX41-related hematologic malignancy predisposition syndrome
DNA ligase IV deficiency
Deafness-lymphedema-leukemia syndrome
Dehydrated hereditary stomatocytosis 2
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 10
Diamond-Blackfan anemia 11
Diamond-Blackfan anemia 12
Diamond-Blackfan anemia 13
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Diamond-Blackfan anemia 16
Diamond-Blackfan anemia 17
Diamond-Blackfan anemia 18
Diamond-Blackfan anemia 19
Diamond-Blackfan anemia 20
Diamond-Blackfan anemia 3
Diamond-Blackfan anemia 4
Diamond-Blackfan anemia 5
Diamond-Blackfan anemia 6
Diamond-Blackfan anemia 7
Diamond-Blackfan anemia 8
Diamond-Blackfan anemia 9
Dyskeratosis congenita, X-linked
Dyskeratosis congenita, autosomal dominant 1
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 3
Dyskeratosis congenita, autosomal dominant 6
Dyskeratosis congenita, autosomal recessive 1
Dyskeratosis congenita, autosomal recessive 2
Dyskeratosis congenita, autosomal recessive 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal recessive 6
Endometrial carcinoma
Epidermal nevus
Familial hemophagocytic lymphohistiocytosis 2
Familial hemophagocytic lymphohistiocytosis 3
Familial hemophagocytic lymphohistiocytosis 4
Familial hemophagocytic lymphohistiocytosis 5
Fanconi anemia complementation group A
Fanconi anemia complementation group B
Fanconi anemia complementation group C
Fanconi anemia complementation group D1
Fanconi anemia complementation group D2
Fanconi anemia complementation group E
Fanconi anemia complementation group F
Fanconi anemia complementation group G
Fanconi anemia complementation group I
Fanconi anemia complementation group J
Fanconi anemia complementation group L
Fanconi anemia complementation group N
Fanconi anemia complementation group O
Fanconi anemia complementation group P
Fanconi anemia complementation group Q
Fanconi anemia complementation group R
Fanconi anemia complementation group T
Fanconi anemia complementation group U
Fanconi anemia complementation group V
Fanconi anemia, complementation group S
Fanconi anemia, complementation group W
Fetal hemoglobin quantitative trait locus 6
Glanzmann thrombasthenia
Glioma susceptibility 1
Glioma susceptibility 3
Glioma susceptibility 9
Glucose-6-phosphate transport defect
Granulocytopenia with immunoglobulin abnormality
Griscelli syndrome type 2
Hashimoto thyroiditis
Hepatocellular carcinoma
Hereditary diffuse gastric adenocarcinoma
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Hermansky-Pudlak syndrome 1
Hermansky-Pudlak syndrome 2
Hermansky-Pudlak syndrome 3
Hermansky-Pudlak syndrome 4
Hermansky-Pudlak syndrome 5
Hermansky-Pudlak syndrome 6
Hermansky-Pudlak syndrome 7
Hermansky-Pudlak syndrome 8
Hermansky-Pudlak syndrome 9
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
Immunodeficiency 23
Immunodeficiency 28
Immunodeficiency 75
Intellectual disability, autosomal dominant 29
Juberg-Marsidi syndrome
Juvenile myelomonocytic leukemia
Kostmann syndrome
LEOPARD syndrome 1
Large congenital melanocytic nevus
Lazy leukocyte syndrome
Leukemia, acute lymphoblastic, susceptibility to, 3
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome 2
Linear nevus sebaceous syndrome
Lung carcinoma
Lymphatic malformation 6
Lymphoma, non-Hodgkin, familial
Lymphoproliferative syndrome 1
Lynch syndrome 1
Lynch syndrome 4
Lynch syndrome 5
Lynch syndrome 8
MIRAGE syndrome
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Macrothrombocytopenia, isolated, 1, autosomal dominant
Malignant tumor of breast
Malignant tumor of prostate
Malignant tumor of urinary bladder
Medulloblastoma
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Melanoma, cutaneous malignant, susceptibility to, 9
Metachondromatosis
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis
Microcephaly, normal intelligence and immunodeficiency
Mirror movements 2
Mismatch repair cancer syndrome 1
Monocytopenia with susceptibility to infections
Muir-Torré syndrome
Multiple myeloma
Myelodysplastic syndrome
Myopathy, lactic acidosis, and sideroblastic anemia 1
Myopathy, tubular aggregate, 1
Nasopharyngeal carcinoma
Neurocutaneous melanocytosis
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Neutropenia, severe congenital, 1, autosomal dominant
Neutropenia, severe congenital, 2, autosomal dominant
Neutropenia, severe congenital, 8, autosomal dominant
Neutrophil immunodeficiency syndrome
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Nonarteritic anterior ischemic optic neuropathy, susceptibility to
Nonimmune chronic idiopathic neutropenia of adults
Noonan syndrome 1
Noonan syndrome 3
Noonan syndrome 6
Normophosphatemic familial tumoral calcinosis
Osteosarcoma
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Pancreatic cancer, susceptibility to, 2
Pancreatic cancer, susceptibility to, 3
Pancreatic cancer, susceptibility to, 4
Pancytopenia due to IKZF1 mutations
Pancytopenia-developmental delay syndrome
Phosphate transport defect
Platelet-type bleeding disorder 16
Poikiloderma with neutropenia
Premature ovarian failure 15
Primary familial polycythemia due to EPO receptor mutation
Primary immunodeficiency syndrome due to p14 deficiency
Primary myelofibrosis
Pseudo von Willebrand disease
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
Radial aplasia-thrombocytopenia syndrome
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Reticular dysgenesis
Revesz syndrome
STAT3-related early-onset multisystem autoimmune disease
Schinzel-Giedion syndrome
Shwachman-Diamond syndrome 1
Shwachman-Diamond syndrome 2
Sideroblastic anemia 2
Sideroblastic anemia 3
Sneddon syndrome
Spasticity-ataxia-gait anomalies syndrome
Specific granule deficiency 2
Spermatogenic failure 28
Stormorken syndrome
Systemic lupus erythematosus
Tatton-Brown-Rahman overgrowth syndrome
Thrombocythemia 1
Thrombocythemia 2
Thrombocythemia 3
Thrombocytopenia 1
Thrombocytopenia 2
Thrombocytopenia 5
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
Thrombocytopenia, anemia, and myelofibrosis
Thyroid cancer, nonmedullary, 2
Toriello-Lacassie-Droste syndrome
Tumor predisposition syndrome 3
Type 1 diabetes mellitus 12
Vasculitis due to ADA2 deficiency
Warts, hypogammaglobulinemia, infections, and myelokathexis
Wilms tumor 1
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome 2
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
X-linked erythropoietic protoporphyria
X-linked lymphoproliferative disease due to SH2D1A deficiency
X-linked severe congenital neutropenia
X-linked sideroblastic anemia 1
XFE progeroid syndrome
Xeroderma pigmentosum, group F
ABCB7 (Xq13.3);
ACD (16q22.1);
ADA2 (22q11.1);
AK2 (1p35.1);
ALAS2 (Xp11.21)
more...
Conditions
Help
Total conditions: 268
Condition/Phenotype
Identifier
Methodology
Total methods: 0
Method Category
Help
Test method
Help
Instrument *
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
