C0206182

Lymphomatoid Papulosis

NPM1

C0220704

Shprintzen Syndrome

COMT, GP1BB, TBX1, HIRA, UFD1L

C0220756

Niemann-Pick Disease, Type C

LIPA, NPC1

C0239981

Hypoalbuminemia

ALB, IL6, TNFRSF1B

C0242647

Mucosa-Associated Lymphoid Tissue Lymphoma

BCL10

C0266642

Situs Ambiguus

ACVR2B

C0268247

Niemann-Pick Disease, Type D

NPC1

C0268338

Ehlers-Danlos Syndrome, Type Iv

COL3A1, COL5A1

C0271934

Congenital Dyserythropoietic Anemia, Type Iii

KIF23

C0271979

Thalassemia Intermedia

HBB

C0272199

Familial Hemophagocytic Lymphocytosis

STXBP2, STX11

C0272236

Hyperimmunoglobulin M Syndrome

UNG

C0272375

Antithrombin Iii Deficiency

SERPINC1

C0282548

Leukostasis

ICAM1, PPARG

C0334634

Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse

CTNNB1, EIF4E, EIF4EBP1, AK1, GSK3B, PIK3CD, WNT3, ARHGAP29

C0341106

Eosinophilic Esophagitis

RRP1B, EMSY, SHROOM3, CCDC81, TIMP2, CAPN5, ANKRD27, PLPP3

C0342731

Deficiency Of Mevalonate Kinase

MVK

C0349639

Juvenile Myelomonocytic Leukemia

SH2B3, EZH2, RRAS2, ARHGAP26, JAK3, KRAS, NRAS, PTPN11, RAC2, RRAS, RUNX1

C0376545

Hematologic Neoplasms

HSPA5, PON1

C0398368

Lymphatic Abnormalities

HOXA3

C0398623

Thrombophilia

F2, F8, FGA, MTHFR

C0398689

Hyper-Igm Immunodeficiency Syndrome, Type 1

CD40LG

C0398691

Hyperimmunoglobulinemia D

MVK

C0455988

Hydrops Fetalis, Non-Immune

DNAH14, HBA1, NEU1, GALNT14, FZD6

C0549463

X-Linked Lymphoproliferative Disorder

XIAP

C0600433

Activated Protein C Resistance

TFPI

C0751674

Lymphangioleiomyomatosis

HES1, TSC2

C0752160

Hemangioma, Cavernous, Central Nervous System

CCM2, KRIT1

C0795907

Conotruncal Anomaly Face Syndrome

COMT, GP1BB, TBX1, HIRA, UFD1L

C0836924

Thrombocytosis

JAK2

C0852077

Blood Coagulation Disorders, Inherited

MTHFR

C0949116

Congenital Hypoplastic Anemia

UMPS, CAD

C1260899

Anemia, Diamond-Blackfan

RPL5, RPL11, RPL15, RPL26, RPL35A, RPS7, RPS10, RPS17, RPS26

C1264039

Von Willebrand Disease, Type 1

VWF

C1264040

Von Willebrand Disease, Type 2

VWF

C1264041

Von Willebrand Disease, Type 3

VWF

C1282968

Von Willebrand Disease, Type 2A

VWF

C1282971

Von Willebrand Disease, Type 2B

VWF

C1282974

Von Willebrand Disease Type 2M

VWF

C1282975

Von Willebrand Disease, Type 2N

VWF

C1301355

Myelodysplastic-Myeloproliferative Diseases

EZH2

C1301362

Lymphoma, Primary Cutaneous Anaplastic Large Cell

NPM1

C1328840

Autoimmune Lymphoproliferative Syndrome

FAS, NRAS, PRKCD, CASP8

C1522378

Leukemia, Large Granular Lymphocytic

STAT5B

C1527405

Erythrocytosis

HBB

C1540912

Hypereosinophilic Syndrome

PDGFRA, FIP1L1

C1704423

Milroy Disease

FLT4, VEGFC

C1720958

Hyper-Igm Immunodeficiency Syndrome, Type 5

UNG

C1846545

Autoimmune Lymphoproliferative Syndrome Type 2B

CASP8

C1959626

Mevalonic Aciduria

MVK

C1961099

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

IL7R, LMO2, CNOT3, NOTCH1, PTPN2, BAX, RPL5, RPL10, TAL1, BCL10

C1961102

Precursor Cell Lymphoblastic Leukemia Lymphoma

CDK6, IKZF1, CYP1B1, NQO1, EPHX1, P2RY8, HLF, IDH1, ARNT, MTHFR, PIP4K2A, PAG1, RB1, BCR, SLC19A1, TCF3, TP53, WHSC1, CASP8, ARID5B, RUNX1

C1968689

Hyper-Immunoglobulin E Syndrome, Autosomal Recessive

DOCK8

C2584774

Congenital Hypofibrinogenemia

FGA, FGB, FGG

C2717961

Thrombotic Microangiopathies

VEGFA

C2919945

Cavernous Hemangioma Of Brain

KRIT1

C2931788

Atypical Hemolytic Uremic Syndrome

CFH, CFHR1, CFI, CD46, CFB, C3

C2936346

22Q11 Deletion Syndrome

COMT, GP1BB, TBX1, HIRA, UFD1L

C2936739

Hyper-Immunoglobulin E Syndrome, Autosomal Dominant

STAT3

C2939465

Deficiency Of Glucose-6-Phosphate Dehydrogenase

G6PD

C3178805

Heterotaxy Syndrome

TDGF1, ACVR2B

C3179455

Niemann-Pick Disease, Type C1

NPC1

C3463824

Myelodysplastic Syndrome

CDKN2B, CTNNA1, DAPK1, EZH2, PLCB1, HFE, MYC, ATRX, DLK1, CFLAR, SPHK1

C3853779

Neonatal Alloimmune Thrombocytopenia

ITGB3

C3887645

Job Syndrome

STAT3, DOCK8