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Gene: Ssbp2 MGI:1914220

Gene Summary

Name:

single-stranded DNA binding protein 2

Synonyms:

Hspc116, 9330163K02Rik, 2310079I02Rik, A830008M03Rik, 1500004K09Rik, Ssdp2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal heart morphology	Ssbp2^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
abnormal eye morphology	Ssbp2^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
increased startle reflex	Ssbp2^{tm1b(KOMP)Wtsi}	HOM	Early adult	8.62×10^-16
decreased liver weight	Ssbp2^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.42×10^-06
enlarged heart	Ssbp2^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
decreased brain weight	Ssbp2^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.33×10^-10
decreased total body fat amount	Ssbp2^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.14×10^-07
impaired pupillary reflex	Ssbp2^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.56×10^-07
hyperactivity	Ssbp2^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.98×10^-05
abnormal epididymis morphology	Ssbp2^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
increased heart weight	Ssbp2^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.56×10^-07
decreased body length	Ssbp2^{tm1b(KOMP)Wtsi}	HOM	Early adult	5.61×10^-05
increased lean body mass	Ssbp2^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.10×10^-08
enlarged epididymis	Ssbp2^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
decreased grip strength	Ssbp2^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.22×10^-05

Download data as: TSV XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Section images	heterozygote	50% (1 of 2)
Aorta	Section images	heterozygote	100% (2 of 2)
Brown adipose tissue	Section images	heterozygote	50% (1 of 2)
Cecum	Section images	heterozygote	100% (2 of 2)
Cerebellum	Section images	heterozygote	100% (2 of 2)
Colon	Section images	heterozygote	100% (2 of 2)
Diaphragm	Section images	heterozygote	100% (2 of 2)
Duodenum	Section images	heterozygote	100% (2 of 2)
Epididymis	Section images	heterozygote	50% (1 of 2)
Esophagus	Section images	heterozygote	100% (2 of 2)
Eye	Section images	heterozygote	100% (2 of 2)
Gonadal fat pad	Section images	heterozygote	50% (1 of 2)
Harderian gland	Section images	heterozygote	50% (1 of 2)
Ileum	Section images	heterozygote	100% (2 of 2)
Jejunum	Section images	heterozygote	100% (2 of 2)
Kidney	Section images	heterozygote	100% (2 of 2)
Lung	Section images	heterozygote	50% (1 of 2)
Mammary gland	Section images	heterozygote	50% (1 of 2)
Mesenteric adipose tissue	Section images	heterozygote	50% (1 of 2)
Midbrain	Section images	heterozygote	100% (2 of 2)
Olfactory lobe	Section images	heterozygote	50% (1 of 2)
Ovary	Section images	heterozygote	50% (1 of 2)
Oviduct	Section images	heterozygote	50% (1 of 2)
Pancreas	Section images	heterozygote	100% (2 of 2)
Parathyroid gland	Section images	heterozygote	100% (2 of 2)
Parotid gland	Section images	heterozygote	50% (1 of 2)
Penis	Section images	heterozygote	50% (1 of 2)
Pituitary gland	Section images	heterozygote	100% (2 of 2)
Prostate gland	Section images	heterozygote	50% (1 of 2)
Quadriceps	Section images	heterozygote	100% (2 of 2)
Skin	Section images	heterozygote	100% (2 of 2)
Spinal cord	Section images	heterozygote	100% (2 of 2)
Spleen	Section images	heterozygote	100% (2 of 2)
Stomach	Section images	heterozygote	100% (2 of 2)
Sublingual gland	Section images	heterozygote	50% (1 of 2)
Submandibular gland	Section images	heterozygote	50% (1 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Thymus	Section images	heterozygote	50% (1 of 2)
Thyroid gland	Section images	heterozygote	100% (2 of 2)
Tongue	Section images	heterozygote	100% (2 of 2)
Trigeminal V nerve	Section images	heterozygote	100% (2 of 2)
Urinary bladder	Section images	heterozygote	100% (2 of 2)
Uterus	Section images	heterozygote	50% (1 of 2)
Vas deferens	Section images	heterozygote	50% (1 of 2)
Vesicular gland	Section images	heterozygote	50% (1 of 2)
Blood	N/A	heterozygote	0.0% (0 of 2)
Bone marrow	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Cartilage tissue	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Gall bladder	N/A	heterozygote	Not available
Heart	N/A	heterozygote	Not available
Hindlimb	N/A	heterozygote	Not available
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lymph node	N/A	heterozygote	Not available
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	Not available
Peyer's patch	N/A	heterozygote	Not available
Sciatic nerve	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	Not available
Small intestine	N/A	heterozygote	100% (2 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Striatum	N/A	heterozygote	Not available
Trachea	N/A	heterozygote	0.0% (0 of 2)
Vagina	N/A	heterozygote	Not available
Vascular system	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	Not available

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
diaphragm	0.0%
duodenum	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
ileum	0.0%
jejunum
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
mesenteric adipose tissue	0.0%
mesenteric lymph node
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

XRay Images Whole Body Dorso Ventral

10 Images

View images

Human diseases caused by Ssbp2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Ssbp2 (0 diseases)
Human diseases predicted to be associated with Ssbp2 (618 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ssbp2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Tumor Predisposition Syndrome 4	Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma	OMIM:609265
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Abnormal number of granulocyte precursors, Refractory anemia with ringed sider...	ORPHA:75564
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Squamous cell carcinoma, Anal ...	ORPHA:217390
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Acute Erythroid Leukemia	Bone marrow hypercellularity, Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia w...	ORPHA:318
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Myelodysplasia, Anemia, Increased ...	OMIM:619041
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu...	OMIM:613736
Immunodeficiency 16	Splenomegaly, Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Epidermodysplasia Verruciformis, Susceptibility To, 3	Basal cell carcinoma, Verrucae, Squamous cell carcinoma	OMIM:618267
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp...	ORPHA:454840
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, B-cell lymph...	OMIM:619924
Hereditary Mixed Polyposis Syndrome	Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato...	ORPHA:157794
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Junctional Epidermolysis Bullosa Inversa	Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma,...	ORPHA:79405
Immunodeficiency 21	Megakaryocyte nucleus hypolobulation, Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocyt...	OMIM:614172
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Spleno...	OMIM:614470
Ataxia-Pancytopenia Syndrome	Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Ankle clonus, Neutropenia, Hypopla...	OMIM:159550
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco...	ORPHA:247806
Late-Onset Junctional Epidermolysis Bullosa	Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma,...	ORPHA:79406
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Muir-Torre Syndrome	Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ...	OMIM:158320
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma	ORPHA:79152
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae	OMIM:614038
Familial Adenomatous Polyposis 1	Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla...	OMIM:175100
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Self-Improving Dystrophic Epidermolysis Bullosa	Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma,...	ORPHA:79411
Wt Limb-Blood Syndrome	Pancytopenia, Radioulnar synostosis, Joint contracture of the 5th finger, Leukemia, Hypoplastic a...	OMIM:194350
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Eczema, Eosinophilic infiltration of the esophagus, Subarachnoid hemorrhage,...	OMIM:243700
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Telangiectasia of the skin, Squamous cell carcinoma, Granul...	ORPHA:542592
Familial Adenomatous Polyposis 3	Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma...	OMIM:616415
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Xeroderma Pigmentosum Variant	Keratitis, Telangiectasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma	ORPHA:90342
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ...	ORPHA:86843
Schöpf-Schulz-Passarge Syndrome	Ovarian neoplasm, Basal cell carcinoma, Facial telangiectasia, Squamous cell carcinoma	ORPHA:50944
Cheilitis Glandularis	Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma	ORPHA:1221
Familial Adenomatous Polyposis	Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga...	ORPHA:733
Bone Marrow Failure Syndrome 1	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Myelodysplasia	OMIM:614675
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia	OMIM:614743
Hyperkeratosis Lenticularis Perstans	Basal cell carcinoma, Squamous cell carcinoma	ORPHA:409
Acquired Ichthyosis	Renal insufficiency, Recurrent skin infections, Lymphoma, Neoplasm, Multiple myeloma, Sarcoma	ORPHA:454
Ollier Disease	Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Anemia, S...	ORPHA:296
Fanconi-Like Syndrome	Pancytopenia, Osteomyelitis, Multiple cutaneous malignancies	OMIM:227850
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Recurrent sinusitis, Absent circula...	OMIM:620282
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Recurrent pneumonia, Decreased propor...	OMIM:619824
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du...	OMIM:174900
Rhabdoid Tumor	Renal neoplasm, Thrombocytopenia, Neoplasm of the central nervous system, Hypertension, Neoplasm ...	ORPHA:69077
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Esophageal stricture, Gastrointestinal inflammation, Squamous cell carcinoma,...	ORPHA:79409
Enchondromatosis, Multiple, Ollier Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:166000
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma	ORPHA:2023
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Myelodysplasia, Gastroesophageal reflux, Bone marrow hypocellulari...	OMIM:614742
Immunodeficiency 24	Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated i...	OMIM:615897
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Schopf-Schulz-Passarge Syndrome	Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma	OMIM:224750
Progressive Osseous Heteroplasia	Osteoarthritis, Sarcoma	ORPHA:2762
Werner Syndrome	Myocardial infarction, Abnormal cerebral vascular morphology, Squamous cell carcinoma, Neoplasm, ...	ORPHA:902
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymphoma, Burkitt l...	OMIM:308240
Epidermodysplasia Verruciformis	Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis, Pustule, Squamous c...	ORPHA:302
Fanconi Anemia, Complementation Group P	Pancytopenia, Horseshoe kidney, Squamous cell carcinoma, Pelvic kidney, Anemia	OMIM:613951
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Elbow flexion contracture, Sterile arthrit...	OMIM:604416
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Myelodysplasia, Aplastic anemia, Eo...	ORPHA:486
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Sarcoma	ORPHA:66661
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Xeroderma Pigmentosum, Complementation Group F	Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of...	OMIM:278760
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lymphoma, Autoimm...	OMIM:613011
Primary Myelofibrosis	Bone marrow hypercellularity, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, He...	ORPHA:824
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma,...	ORPHA:79410
Lymphoproliferative Syndrome 2	Pancytopenia, Lymphoproliferative disorder, Aplastic anemia, Splenomegaly, Lymphoma, Recurrent pn...	OMIM:615122
Immunodeficiency 18	Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent gast...	OMIM:615615
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hematolo...	ORPHA:98850
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Neoplasm of the stomach, Gastroin...	ORPHA:44890
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Ichthyosis, Hystrix-Like, With Deafness	Punctate keratitis, Erythroderma, Squamous cell carcinoma	OMIM:602540
Palmoplantar Carcinoma, Multiple Self-Healing	Carcinoma, Corneal neovascularization, Chronic rhinitis, Squamous cell carcinoma	OMIM:615225
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Neoplasm of head and neck, Pure red cell aplasia, ...	ORPHA:99867
Amegakaryocytic Thrombocytopenia, Congenital, 1	Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ...	ORPHA:289390
Multiple Enchondromatosis, Maffucci Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:614569
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, Splenomegaly, H...	OMIM:300635
Infantile Myofibromatosis	Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ...	ORPHA:2591
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Oropharyngeal squamous cell carcinoma, Medial calcification of large arteries, Villous atrophy, F...	ORPHA:391487
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Refractory anemia with ringed sideroblasts, Erythro...	OMIM:133180
Xeroderma Pigmentosum, Variant Type	Keratitis, Squamous cell carcinoma, Cutaneous telangiectasia, Basal cell carcinoma, Conjunctiviti...	OMIM:278750
Transcobalamin Deficiency	Pancytopenia, Megaloblastic bone marrow, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute ...	ORPHA:859
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p...	ORPHA:220460
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Myelodysplasia, Bone marrow hypocellularity, Abnormally low T cell receptor excisio...	OMIM:619767
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Esophageal stricture, Squamous cell carcinoma, Abnormal esoph...	OMIM:226600
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ly...	OMIM:615559
Ethanolaminosis	Cardiomegaly	OMIM:227150
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Bone marrow hypercellularity, Macrocytic anemia, Megakaryocyte nucleus hy...	ORPHA:86841
Chromosome 5Q Deletion Syndrome	Megakaryocyte nucleus hypolobulation, Anemia of inadequate production, Myelodysplasia, Refractory...	OMIM:153550
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Oropharyngeal squamous cell carcinoma, Breast carcinoma, Telangiectasia, Facial telangiectasia, A...	OMIM:614564
Brucellosis	Liver abscess, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis, Epididymit...	ORPHA:1304
Liposarcoma	Varicose veins, Sarcoma	ORPHA:69078
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Testicular neoplasm, Ileus, Ovarian neoplasm, Neoplasm of the central n...	ORPHA:83469
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju...	OMIM:614700
Oral Submucous Fibrosis	Oropharyngeal squamous cell carcinoma, Cheilitis	ORPHA:357154
Autoinflammatory-Pancytopenia Syndrome	Arthropathy, Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal infl...	OMIM:619858
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculitis-like T-cell...	OMIM:618398
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopenia...	OMIM:619164
Lig4 Syndrome	Pancytopenia, Hypoplasia of penis, Telangiectasia of the skin, Malabsorption, Leukocytosis, Lymph...	ORPHA:99812
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell...	ORPHA:79140
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Leukopenia, Monocyto...	OMIM:616871
Neuroendocrine Neoplasm Of Appendix	Functional intestinal obstruction, Tricuspid stenosis, Mechanical ileus, Midgut malrotation, Hear...	ORPHA:100079
Fanconi Anemia, Complementation Group G	Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia	OMIM:614082
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm...	ORPHA:494424
Dyskeratosis Congenita, X-Linked	Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Leukopenia, Conjunctivitis, Ptery...	OMIM:305000
Lig4 Syndrome	Pancytopenia, Psoriasiform dermatitis, Myelodysplasia, Telangiectasia, Acute lymphoblastic leukem...	OMIM:606593
Recurrent Respiratory Papillomatosis	Recurrent pneumonia, Dysphagia, Syncope, Squamous cell carcinoma	ORPHA:60032
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Listeriosis	Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec...	ORPHA:533
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect...	ORPHA:678
Dyskeratosis Congenita, Autosomal Recessive 3	Oral leukoplakia, Pancytopenia, Bone marrow hypocellularity, Squamous cell carcinoma of the tongue	OMIM:613988
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Myelodysplasia, Patellar aplasia, Genu varum, Finger symphalangism, Functional a...	ORPHA:221008
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Myelodysplasia, Thrombocytopenia, Leukopenia, Interstitial pneumonitis, Increase...	OMIM:127550
Rothmund-Thomson Syndrome Type 2	Joint dislocation, Aplastic anemia, Myelodysplasia, Lymphoma, Genu varum, Patellar aplasia, Cleft...	ORPHA:221016
Igg4-Related Kidney Disease	Lymphadenitis, Lymphocytoma cutis, Sterile pyuria, Tubulointerstitial nephritis, Cholecystitis, A...	ORPHA:449395
Yellow Nail Syndrome	Renal neoplasm, Sinusitis, Biliary tract neoplasm, Nephropathy, Bronchiectasis, Neoplasm of the l...	ORPHA:662
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Villous atrophy, Skin rash, Diffuse alveolar hemorrhage, Thrombocytopenia, Splenome...	OMIM:616050
Gaucher Disease, Type I	Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertension, Mitral regu...	OMIM:230800
Immunodeficiency 59 And Hypoglycemia	Recurrent skin infections, Malabsorption, Herpes simplex encephalitis, Decreased proportion of cl...	OMIM:233600
Refractory Anemia	Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, Single lineage myelo...	ORPHA:98826
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypercellularity, Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, Lymp...	ORPHA:3261
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma	ORPHA:626
Rothmund-Thomson Syndrome	Skin rash, Telangiectasia of the skin, Myelodysplasia, Aplastic anemia, Aplasia/Hypoplasia of the...	ORPHA:2909
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Myelodysplasia, Thrombocytopenia, Squamous cell carcinoma of the skin, Lymph...	OMIM:620365
8p23.1 deletion syndrome	Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial...	DECIPHER:39
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Renal artery aneurysm, Portal hypertension, Raynaud phenomenon...	OMIM:615688
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Tremor, Obesity, Limb dystonia, Hypertrophic cardiomyopathy	OMIM:620270
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Large intestinal polyposis, Colo...	ORPHA:247798
Fetal Gaucher Disease	Death in infancy, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage,...	ORPHA:85212
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Leukopenia, Fat malabsorpti...	ORPHA:811
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Monocytopenia, Pancytopenia, Impaired neutr...	OMIM:618986
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Pancytopenia, Maculopapular exanthema, Skin rash, Aplast...	ORPHA:398124
Oslam Syndrome	Radioulnar synostosis, Neoplasm, Anemia, Osteosarcoma	OMIM:165660
Pauci-Immune Glomerulonephritis	Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Glomerulonephritis, ...	ORPHA:93126
Acromesomelic Dysplasia, Grebe Type	Death in infancy, Synostosis of carpal bones, Tarsal synostosis, Sarcoma	ORPHA:2098
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Chromomycosis	Keratitis, Squamous cell carcinoma, Keratoconjunctivitis sicca, Multiple cutaneous malignancies, ...	ORPHA:182
Isovaleric Acidemia	Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Th...	OMIM:243500
Fanconi Anemia, Complementation Group N	Aplastic anemia, Nephroblastoma, Medulloblastoma, Neuroblastoma	OMIM:610832
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Desmoid...	ORPHA:873
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Thrombocytopenia, Steatorrhea, Persistence ...	OMIM:260400
Aicardi-Goutieres Syndrome 4	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Death in childhood, Thrombocytopenia	OMIM:610333
Exostoses, Multiple, Type Ii	Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Genu valgum, Rib exostoses, Scapular e...	OMIM:133701
Exostoses, Multiple, Type I	Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Genu valgum, Rib exostoses, Scapular e...	OMIM:133700
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Esophagea...	OMIM:617341
Fanconi Anemia, Complementation Group E	Pancytopenia, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Anemia, Neutropenia, Leukemia,...	OMIM:600901
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Recurrent cutaneous fungal infections, Squamous cell ca...	ORPHA:477
Chloramphenicol Toxicity	Aplastic anemia	OMIM:515000
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Keratitis, Elbow flexion contracture, Furrowed tongue, Squam...	OMIM:148210
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Recurrent skin infections, Anal fissure, Esophageal stricture, Dilated cardi...	ORPHA:89842
Primary Erythromelalgia	Leukemia, Vasculitis	ORPHA:90026
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmu...	ORPHA:572
Spondyloenchondrodysplasia	Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Proteinuria, Autoim...	ORPHA:1855
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Squamous cell carcinoma	OMIM:618373
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Angular cheilitis, Proteinuria, Me...	ORPHA:35858
Cherubism	Optic neuropathy, Marcus Gunn pupil, Macular scar	OMIM:118400
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Pancytopenia	OMIM:600546
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Congenital hip dislocation, Aplastic anemia, Eczema, Thromb...	OMIM:617052
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Thrombo...	ORPHA:507
Fanconi Anemia, Complementation Group A	Pancytopenia, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Anemia, Neutropenia, Leukemia,...	OMIM:227650
Trichothiodystrophy 1, Photosensitive	Death in infancy, Intestinal obstruction, Malabsorption, Telangiectasia, Squamous cell carcinoma,...	OMIM:601675
Cowden Syndrome 1	Colonic diverticula, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Carcinoma, Hamart...	OMIM:158350
Schimke Immunoosseous Dysplasia	Pancytopenia, Renal insufficiency, Transient ischemic attack, Proteinuria, Thrombocytopenia, Stag...	OMIM:242900
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Colitis, Decreased basophil count...	OMIM:618394
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Kindler Epidermolysis Bullosa	Urethral stricture, Recurrent skin infections, Camptodactyly of finger, Phimosis, Esophageal stri...	ORPHA:2908
Amed Syndrome, Digenic	Acute myeloid leukemia, Myelodysplasia, Thrombocytopenia, Leukopenia, Bone marrow hypocellularity...	OMIM:619151
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Congenital Erythropoietic Porphyria	Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegal...	ORPHA:79277
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ...	ORPHA:447877
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Telangiectasia of the skin, Myocardial infarctio...	ORPHA:679
Tumor Predisposition Syndrome 1	Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci...	OMIM:614327
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Mitral regurgitation, High palate, Cu...	OMIM:619750
Bloom Syndrome	Elevated hemoglobin A1c, Lymphoma, Bronchiectasis, Squamous cell carcinoma, Leukemia, Malar rash,...	OMIM:210900
Milroy Disease	Abnormal venous morphology, Ankle swelling, Angiosarcoma, Varicose veins, Neoplasm of the skin, E...	ORPHA:79452
Gardner Syndrome	Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci...	ORPHA:79665
Fanconi Anemia, Complementation Group C	Pancytopenia, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Anemia, Bone marrow hypocellul...	OMIM:227645
Gaucher Disease, Type Iii	Splenomegaly, Thrombocytopenia, Pancytopenia, Vascular calcification	OMIM:231000
Propionic Acidemia	Pancytopenia, Increased level of hippuric acid in urine, Eczema, Thrombocytopenia, Cerebellar hem...	OMIM:606054
Maternal Uniparental Disomy Of Chromosome 1	Pancytopenia, Gastroesophageal reflux, Delayed closure of the anterior fontanelle	ORPHA:251009
Diamond-Blackfan Anemia	Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutrop...	ORPHA:124
Acute Monoblastic/Monocytic Leukemia	Bone marrow hypercellularity, Acute monocytic leukemia, Ankle swelling, Leukocytosis, Oliguria, A...	ORPHA:514
Immunodeficiency 102	Recurrent skin infections, Autoimmune thrombocytopenia, Bronchiectasis, Increased proportion of C...	OMIM:301082
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Abnormal gastrointestinal v...	ORPHA:70475
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen...	OMIM:603909
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T...	OMIM:618982
Thrombocytopenia 5	Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N...	OMIM:616216
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop...	OMIM:259710
Schnitzler Syndrome	Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphoma, Arthritis, Anemia	ORPHA:37748
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Death in infancy, Autoimmune thrombocytopenia, Sple...	OMIM:617514
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Anemia, Refractory anemia with ringed sideroblasts, Reduced hemato...	OMIM:619523
Immunodeficiency 8 With Lymphoproliferation	Recurrent otitis media, Lymphopenia, Gastroesophageal reflux, Chronic oral candidiasis	OMIM:615401
Multiple Endocrine Neoplasia, Type Iv	Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo...	OMIM:610755
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Thrombocytopenia, Abnormal natural ...	ORPHA:79124
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Schwannoma, Hypochromic microcytic anemia, Hepatosp...	ORPHA:96123
Trichothiodystrophy	Joint dislocation, Congenital exfoliative erythroderma, Eczema, Craniosynostosis, High, narrow pa...	ORPHA:33364
Peutz-Jeghers Syndrome	Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop...	ORPHA:2869
Acute Promyelocytic Leukemia	Bone marrow hypercellularity, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytope...	ORPHA:520
Fanconi Anemia, Complementation Group D2	Pancytopenia, Ectopic kidney, Thrombocytopenia, Patent ductus arteriosus, Esophageal atresia, Ret...	OMIM:227646
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Bone marrow hyp...	ORPHA:88
Hereditary Acrokeratotic Poikiloderma	Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Eczema, Camptodactyly of f...	ORPHA:2907
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic kidney disease...	OMIM:613845
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count, Lymphoid hyperplasia	OMIM:616452
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Abnormal bone marrow cell morphology, Reticulocytopenia, Bone...	ORPHA:101096
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Abnormal capillary morphol...	ORPHA:542643
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto...	OMIM:620133
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Pancytopenia, Unilateral renal agenesis, Splenomegaly, Patent ductus arteriosus...	OMIM:614576
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Megaloblastic bone marrow, Hypertensi...	ORPHA:2169
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Esophageal stricture, Dilated cardiomyopathy, ...	OMIM:613989
Oncogenic Osteomalacia	Hyperphosphaturia, Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carc...	ORPHA:352540
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Skin rash, Homocystinuria, Megaloblastic anemia, Thrombocytopenia, Patent ductus ar...	OMIM:277380
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia	OMIM:617872
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Anal fiss...	ORPHA:79408
Takayasu Arteritis	Arteritis	OMIM:207600
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ...	OMIM:620135
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Multicystic kidney dysplasia, Hydroureter, Recurrent skin infections, Pneumon...	ORPHA:79404
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Temporal Arteritis	Retinal arteritis	OMIM:187360
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Transaldolase Deficiency	Pancytopenia, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Hepatosplenomegaly, Coarc...	OMIM:606003
Morm Syndrome	Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Truncal obesity, Micropenis	ORPHA:75858
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Gastroesophageal reflux, Glossitis, ...	ORPHA:90045
Noonan Syndrome 12	Tetralogy of Fallot, Atopic dermatitis, Anteriorly placed anus, Glabellar hemangioma, Lymphopenia...	OMIM:618624
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto...	ORPHA:86839
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulo...	OMIM:607426
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Proximal radio-ulnar synostosis, Aplastic a...	OMIM:605432
Encephalopathy, Progressive, With Or Without Lipodystrophy	Tremor, Hepatomegaly, Hyperactivity, Dystonia	OMIM:615924
Immunodeficiency 36 With Lymphoproliferation	B-cell lymphoma, Splenomegaly, Bronchiectasis, Chronic lymphatic leukemia, Increased proportion o...	OMIM:616005
Specific Granule Deficiency 2	Death in infancy, Absent neutrophil specific granules, Bone marrow maturation arrest, Myelodyspla...	OMIM:617475
Xeroderma Pigmentosum, Complementation Group E	Keratitis, Telangiectasia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, C...	OMIM:278740
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Recurrent skin infections, Recurrent p...	OMIM:614868
Dyskeratosis Congenita, Autosomal Dominant 6	Pancytopenia, Esophageal stenosis, Aplastic anemia, Bone marrow hypocellularity, Oral leukoplakia	OMIM:616553
Basal Cell Nevus Syndrome 2	Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma	OMIM:620343
Aplastic Anemia	Aplastic anemia, Bone marrow hypocellularity	OMIM:609135
Gaucher Disease Type 1	Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenomegaly, Hematur...	ORPHA:77259
Retinoblastoma	Lymphoma, Cleft palate, Vitreous hemorrhage, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, ...	OMIM:180200
Ovarian Fibrothecoma	Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis	ORPHA:314478
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopen...	ORPHA:100026
Mccune-Albright Syndrome	Pancytopenia, Hyperphosphaturia, Cutaneous myxoma, Hepatitis, Breast carcinoma, Hepatocellular ad...	ORPHA:562
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Telangiectasia, Basal cell carcinoma, Squamous cell carcinoma of the skin, Conjunctivi...	OMIM:278720
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Lymphopenia	OMIM:247800
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Villous atrophy, Malabsorption, Thrombocytopenia, Reticulocyt...	OMIM:557000
Immunodeficiency 50	Lymphopenia, Eczema, Neutropenia	OMIM:300988
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Telangiectasia, Anteriorly placed anus, Squamous cell carcinoma, Basa...	OMIM:268400
Retinoblastoma	Glioma, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Lymphoma, Hyphema, Pineoblast...	ORPHA:790
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Megaloblastic bone marr...	OMIM:275350
Tufted Angioma	Megakaryocytopenia, Anemia, Neoplasm of the skin, Hemangioma of the lip, Thrombocytopenia, Facial...	ORPHA:1063
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Osteomyelitis, Craniosynostosis, Splenomegaly, Anemia, Thrombocytopenia	OMIM:259700
Griscelli Syndrome Type 2	Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia	ORPHA:79477
Terminal Osseous Dysplasia	Fibroma, Camptodactyly of finger, Cleft palate	OMIM:300244
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Pancytopenia, Aplastic anemia, Urethral stenosis, Leukopenia, Bone marrow hyp...	OMIM:613990
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon...	OMIM:620189
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Failure to thri...	ORPHA:858
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphoma, Anemia	ORPHA:100025
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Pancytopenia, Pneumonia, Hepatosplenomegaly, Oligosacchariduria, Macrogloss...	ORPHA:309288
Dyskeratosis Congenita, Digenic	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Gastroesophageal reflux, Dys...	OMIM:620040
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Pancytopenia, Hypoplasia of penis, Telangiectasia of the skin, Renal hypoplasia	ORPHA:85321
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Ileal ulcer, Polyarticular arthritis, Lym...	OMIM:616744
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Hemangiomatosis, Visceral angiomatosis, Patent ductus arteriosus, Thrombocyt...	ORPHA:2123
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Huriez Syndrome	Squamous cell carcinoma of the skin	OMIM:181600
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Thrombocytopenia, Splenomegaly, Lymphoma, Recurrent pneumo...	ORPHA:47612
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr...	OMIM:259720
Bazex Syndrome	Anemia, Neoplasm, Lung adenocarcinoma, Liposarcoma	ORPHA:166113
Neurofibromatosis Type 1	Astrocytoma, Genu varum, Arterial stenosis, Chronic myelogenous leukemia, Genu valgum, Multiple l...	ORPHA:636
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus, Death in childhood	OMIM:200900
Dyskeratosis Congenita, Autosomal Recessive 2	Oral leukoplakia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613987
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Hypospadias, Eczema, Atopic dermatitis, Recurrent otitis media, Anemia	OMIM:620331
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Squamous cell carcinoma of the skin	ORPHA:85112
Bangstad Syndrome	Pancytopenia	OMIM:210740
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Gastroesophageal reflux, Neut...	ORPHA:443811
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Skin rash, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukopenia, Hemophag...	OMIM:603553
Primary Sclerosing Cholangitis	Cholangiocarcinoma, Renal insufficiency, Abnormal eosinophil morphology, Portal hypertension, Spi...	ORPHA:171
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Esophageal stricture, Bone marrow hypocellularity, Pterygium, Oral...	OMIM:224230
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Absence ...	OMIM:613254
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Fanconi Anemia, Complementation Group B	Death in infancy, Aplastic anemia, Esophageal atresia, Patent ductus arteriosus, Tracheoesophagea...	OMIM:300514
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Hypoplasia of the thymus, Death in childhood, Death in infancy, Psoriasiform derma...	OMIM:243150
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Gastroesophageal reflu...	OMIM:613385
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased u...	ORPHA:760
Common Variable Immunodeficiency	Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenome...	ORPHA:1572
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Odynophagia, Leukopenia, Hemoglobinuria, Renal Fanconi...	ORPHA:447
Methylmalonic Aciduria, Cblb Type	Pancytopenia, Ketonuria, Methylmalonic aciduria, Anemia, Neutropenia, Thrombocytopenia	OMIM:251110
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Schimke Immuno-Osseous Dysplasia	Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Decreas...	ORPHA:1830
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Chilblains, Pneumonia, Hematemesis...	OMIM:615846
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Dystonia, Hypertrop...	OMIM:614702
Seckel Syndrome 1	Pancytopenia, Hypospadias, Hip dislocation, Elbow flexion contracture, Cleft palate, High palate,...	OMIM:210600
Attrv30M Amyloidosis	Cardiomyopathy, Vitreous floaters, Weight loss, Cardiomegaly	ORPHA:85447
Systemic Lupus Erythematosus 17	Lymphopenia, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitra...	OMIM:301080
Lymphedema-Distichiasis Syndrome	Recurrent skin infections, Proteinuria, Patent ductus arteriosus, Cleft palate, Tubulointerstitia...	ORPHA:33001
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Laryngeal carcinoma, Hypospadias, Carcinoma	OMIM:610644
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h...	OMIM:252920
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Thromb...	ORPHA:47
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Cardiomegaly	ORPHA:88643
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, An...	OMIM:251100
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly	OMIM:614096
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteomyelitis leading to amputation due to slow healing fractures, Fibrosarcoma, Histiocytoma, Os...	OMIM:112250
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Gastroesophageal reflux, Aspiration pneumonia, Nephropathy, Achalasia, Diffuse leiomyomatosis, Tr...	ORPHA:1018
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Increased T cell count, Chronic mucocutaneous candidiasis, Inflammation of the large inte...	ORPHA:98813
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom...	OMIM:235200
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv...	OMIM:212140
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Hsd10 Disease, Infantile Type	Restlessness, Dystonia, Cardiomegaly, Optic atrophy, Choreoathetosis, Dysphagia, Hypertrophic car...	ORPHA:391428
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Epis...	ORPHA:167
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea...	ORPHA:276
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect...	OMIM:615518
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Reduced intraabdominal adipose ...	ORPHA:363400
Dubowitz Syndrome	Aplastic anemia, Eczema, Hypospadias, Velopharyngeal insufficiency, Lymphoma, Submucous cleft har...	OMIM:223370
Ataxia-Telangiectasia	Lymphopenia, Neoplasm, Telangiectasia of the skin, Mucosal telangiectasiae	ORPHA:100
Whim Syndrome	Bone marrow hypercellularity, Lymphopenia, Abnormal small intestine morphology, Sinusitis, Severe...	ORPHA:51636
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Elevated pro...	OMIM:619802
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Thyroiditis, Hepatitis, Hepatosple...	ORPHA:228426
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia	ORPHA:2582
Xeroderma Pigmentosum, Complementation Group A	Keratitis, Telangiectasia, Melanoma, Conjunctivitis, Squamous cell carcinoma of the skin	OMIM:278700
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly	OMIM:619064
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Ventricular septal defect, Aggressive behavior, Precocious puberty, Cryptorchidism...	ORPHA:3306
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav...	ORPHA:3077
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Recurrent skin infections, Splenomegaly, Cleft palate, Coarctation of aorta, L...	OMIM:620210
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Pancytopenia, Skin rash, Dilated cardiomyopathy, Death in childhood	OMIM:618321
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula...	OMIM:300280
Adult Idiopathic Neutropenia	Granulocytic hypoplasia, Bone marrow hypercellularity, Helicobacter pylori infection, Abnormal ne...	ORPHA:2688
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis	ORPHA:615
Juvenile Temporal Arteritis	Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia	ORPHA:26137
Infantile Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Failure to thrive, Cardiomegaly	OMIM:269920
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Leukopenia, Conjunctivitis, Cholecystiti...	ORPHA:99827
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Ganglioneuroblastoma, Elevated urinary dopamine level, Abno...	OMIM:256700
Oculocutaneous Albinism Type 1B	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79434
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulce...	ORPHA:99880
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Leiomyosarcoma, Hyperten...	ORPHA:139411
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Megakaryocyte dysplasia, Eczema, Myelodysp...	ORPHA:508542
Lymphangiectasia, Intestinal	Lymphopenia, Intestinal lymphangiectasia, Stillbirth, Malabsorption	OMIM:152800
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Pericardial constriction...	OMIM:253250
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular...	OMIM:600649
Omenn Syndrome	Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Thyroiditis, Nephrotic syndrome, E...	ORPHA:39041
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulce...	ORPHA:143
Meige Disease	Angiosarcoma, Varicose veins, Recurrent bacterial skin infections, Recurrent skin infections	ORPHA:90186
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Au...	OMIM:613179
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Ectodermal Dysplasia-Syndactyly Syndrome 2	Enamel hypoplasia, Cardiomegaly	OMIM:613576
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, T lymphocytope...	ORPHA:277
Cowden Syndrome	Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma...	ORPHA:201
Immunodeficiency 23	Hemolytic anemia, Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Eosinophil...	OMIM:615816
Hemochromatosis, Type 3	Arthritis, Cardiomyopathy, Neutropenia, Lymphopenia, Anemia	OMIM:604250
Xeroderma Pigmentosum, Complementation Group B	Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous melanoma	OMIM:610651
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Arteriosclerosis, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:220295
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Intracranial...	ORPHA:363618
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cherry red spot of the...	OMIM:256550
Immunodeficiency 85 And Autoimmunity	Villous atrophy, Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased proportion of...	OMIM:619510
Pearson Syndrome	Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuria, Cardiac conduction abnormality, ...	ORPHA:699
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl...	ORPHA:424016
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f...	OMIM:618652
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Thrombocytopenia, Distal renal tubular acidosis, Proximal renal tubular acidosis, N...	ORPHA:2785
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Contracture of the proximal int...	OMIM:620141
Degcags Syndrome	Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High p...	OMIM:619488
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Distal arthrogryposis, Decre...	ORPHA:42
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Vascular dilatation, Chronic kidney disease, Gout, Renal cyst, Focal segmental glomerulosclerosis...	OMIM:617056
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Anal stenosis, Aga...	OMIM:250250
Martin-Probst Syndrome	Renal insufficiency, Pancytopenia, Proteinuria, Telangiectasia, Chordee, Micropenis	OMIM:300519
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Small for gestational age, Abnormal reproductive system morphology...	ORPHA:1916
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Gaucher Disease	Joint dislocation, Death in infancy, Pancytopenia, Osteomyelitis, Proteinuria, Thrombocytopenia, ...	ORPHA:355
Aicardi Syndrome	Block vertebrae, Hiatus hernia, Recurrent pneumonia, Teratoma, Carcinoma, Cleft palate, Lipoma, H...	OMIM:304050
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Malabsorption, Cardiomyopathy, Basal...	ORPHA:79430
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:601859
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Neutropenia, Abnormal lymphatic vessel morphology, Leukopenia,...	ORPHA:2330
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Thrombocytopenia, Bronchiect...	ORPHA:169105
Oculocutaneous Albinism Type 1A	Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79431
Simple Cryoglobulinemia	Myocardial infarction, Nephritis, Membranoproliferative glomerulonephritis, B-cell lymphoma, Rayn...	ORPHA:91139
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Pancytopenia, Pneumonia, Craniosynostosis, Hepatosplenomegaly, Oligosacchar...	ORPHA:309282
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumoni...	OMIM:102700
Mirage Syndrome	Hypospadias, Myelodysplasia, Thrombocytopenia, Patent ductus arteriosus, Esophageal stricture, In...	OMIM:617053
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Elevated urinary cate...	OMIM:115310
Wiskott-Aldrich Syndrome	Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Nephropathy...	OMIM:301000
Primary Intestinal Lymphangiectasia	Disseminated cutaneous warts, Functional abnormality of the gastrointestinal tract, Abnormal lymp...	ORPHA:90362
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent skin infections, Craniosynostosis, Squamous cell carcinoma of the skin, Smooth tongue, ...	ORPHA:79396
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal...	ORPHA:465508
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Renal insufficiency, Epistaxis, Abnormality of ne...	ORPHA:33226
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Gaucher Disease Type 3	Pancytopenia, Proteinuria, Splenomegaly, Anemia, Hematuria, Pulmonary arterial hypertension, Thro...	ORPHA:77261
Fusariosis	Brain abscess, Myositis, Fasciitis, Sinusitis, Maculopapular exanthema, Pneumonia, Hematological ...	ORPHA:228119
Gaucher Disease, Type Iiic	Splenomegaly, Mitral stenosis, Calcification of the aorta, Pancytopenia	OMIM:231005
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Anal fissure, Perianal abscess, Lymphadeni...	OMIM:618935
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism, Atrial septal defec...	OMIM:620327
Diamond-Blackfan Anemia 21	Aortic regurgitation, Erythroid hypoplasia, Genu valgum, Anemia, Cubitus valgus, Thrombocytopenia...	OMIM:620072
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia	OMIM:606764
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Large for gestational age, Congenital ...	OMIM:239850
Pachydermoperiostosis	Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Seborrheic dermatitis, Malabsorpt...	ORPHA:2796
Stankiewicz-Isidor Syndrome	Hyperactivity, Ventricular septal defect, Hypospadias, Cryptorchidism, Micropenis, Abnormal optic...	OMIM:617516
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Myelodysplasia, Neutropenia, Lymp...	OMIM:617827
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ...	ORPHA:555874
Multiple Endocrine Neoplasia Type 4	Angiofibromas, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary prolac...	ORPHA:276152
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy...	OMIM:304790
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous...	OMIM:608800
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Small for gestational age, Cardiomegaly, Flexion contract...	OMIM:616897
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ...	ORPHA:324410
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro...	OMIM:616100
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Sple...	ORPHA:2072
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Neutrophilia, A...	ORPHA:3260
Fucosidosis	Hepatomegaly, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Failure to thrive	ORPHA:349
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Erythrod...	ORPHA:169154
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Pyloric stenosis, Neoplasm of the skin, Neutropenia, Meckel diverticulum	OMIM:616395
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop...	OMIM:201475
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Hydro...	ORPHA:79330
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Cardiomegaly, Hepatosplenomegaly, Cherry red spot of ...	OMIM:268800
Tuberous Sclerosis Complex	Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Renal cyst, Pheoc...	ORPHA:805
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia, Telangiectasia of the skin, Myoc...	ORPHA:221
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Dystonia, C...	ORPHA:309246
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Acetabular dysplasia, Total anomalous pulmonary venous return, Anemia	OMIM:618313
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar...	OMIM:175050
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Pudendal Neuralgia	Anal canal adenocarcinoma, Dysuria, Genital neoplasm, Neoplasm of the genitourinary tract, Pollak...	ORPHA:60039
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Lymphopenia, Myositis, Renal insufficiency, Skin rash,...	ORPHA:93552
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C...	OMIM:619846
Oculocutaneous Albinism Type 2	Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma	ORPHA:79432
Ataxia-Telangiectasia	Conjunctival telangiectasia, Sinusitis, Lymphoma, Bronchiectasis, Hodgkin lymphoma, Acute lymphob...	OMIM:208900
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Recurrent pneumonia, Atopic dermatitis, Bronchiectasis, Chronic mucocu...	OMIM:619752
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Refsum Disease, Classic	Cardiomyopathy, Rod-cone dystrophy, Retinal degeneration, Cardiomegaly	OMIM:266500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia, Eosinophili...	ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepatosplenome...	ORPHA:169160
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Addictive alcohol use, Cirrhosis, ...	ORPHA:57777
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Hypergonadotropic hypogonadism,...	OMIM:602782
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat...	ORPHA:2929
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Exaggerated startle response, Mitral valve prolapse, Hepatosplenom...	ORPHA:309155
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Intestinal malrotation, Portal hypertension, Esophageal varix, Dilatation of the ce...	OMIM:613658
47,Xyy Syndrome	Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Congenital stationary night blindness, O...	ORPHA:8
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Iridocyclitis, Splenomegaly, Bronchiectasis, Uveitis, Hypercalciuria, Arthritis, In...	OMIM:181000
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Enteroco...	ORPHA:2686
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Failure to thrive, Cardiomegaly	ORPHA:99931
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Decreased body weight, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Opisthotonus...	OMIM:608013
Beck-Fahrner Syndrome	Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly	OMIM:618798
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash...	OMIM:619381
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:614921
Syndromic Diarrhea	Aortic regurgitation, Lymphopenia, Villous atrophy, Gastritis, Increased mean platelet volume, Sp...	ORPHA:84064
Developmental And Epileptic Encephalopathy 68	Failure to thrive, Exaggerated startle response, Flexion contracture	OMIM:618201
Chronic Graft Versus Host Disease	Fasciitis, Pancytopenia, Phimosis, Urinary bladder inflammation, Esophageal stricture, Xerostomia...	ORPHA:99921
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Inguinal hernia, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Inappro...	OMIM:618143
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Perianal abscess, P...	OMIM:612541
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Dilated cardiomyopathy, Flexion contracture, My...	OMIM:253800
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hyper...	OMIM:617713
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma...	ORPHA:97286
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Myositis, Skin rash, Raynaud phenomenon, Pustule, Telangiectasia, Leukopenia, Thromb...	OMIM:615934
Sapho Syndrome	Psoriasiform dermatitis, Acne, Neoplasm of the skeletal system, Osteomyelitis, Skin rash, Pustule...	ORPHA:793
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Tremor, Amyloid deposition in the vitreous humor, Cardiomyopathy, Intention tremor	OMIM:105210
Mucopolysaccharidosis Type 3	Hepatomegaly, Hyperactivity, Inguinal hernia, Aggressive behavior, Cardiomegaly, Hypersexuality, ...	ORPHA:581
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Multiple Endocrine Neoplasia Type 1	Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Flexion contracture, Optic atrophy	OMIM:609541
Sitosterolemia 1	Reticulocytosis, Carotid artery stenosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthri...	OMIM:210250
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia...	OMIM:242700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:608836
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Hepatitis, Endocarditi...	ORPHA:549
Sickle Cell Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis, Retinopathy	OMIM:603903
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy	ORPHA:320406
Revesz Syndrome	Oral leukoplakia, Aplastic anemia, Bone marrow hypocellularity	OMIM:268130
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i...	ORPHA:892
Blau Syndrome	Xerostomia, Large vessel vasculitis, Posterior uveitis, Nephropathy, Abnormal salivary gland morp...	ORPHA:90340
Avian Influenza	Miscarriage, Pneumonia, Congestive heart failure, Thrombocytopenia, Hepatitis, Leukopenia, Conjun...	ORPHA:454836
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, Optic atrophy, Cardiomegaly	OMIM:619259
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Hernia, Dystonia, Cherry red spot ...	OMIM:230000
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Arthritis, Panniculitis, Conjunct...	OMIM:617591
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Abnormal internal carotid artery morphology, Pheochrom...	ORPHA:97685
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Small for gestational age, Cardiomegaly	OMIM:613320
Leukodystrophy, Hypomyelinating, 13	Failure to thrive, Exaggerated startle response, Joint contracture, Optic atrophy	OMIM:616881
Generalized Pustular Psoriasis	Renal insufficiency, Pustule, Congestive heart failure, Leukocytosis, Cheilitis, Uveitis, Arthrit...	ORPHA:247353
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor...	ORPHA:3427
Chromosome 15Q25 Deletion Syndrome	Hyperactivity, Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic...	OMIM:614294
Lethal Congenital Contracture Syndrome 10	Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Tay-Sachs Disease	Exaggerated startle response, Dystonia, Tremor, Precocious puberty, Optic atrophy, Hepatosplenome...	ORPHA:845
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega...	OMIM:300967
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Op...	OMIM:617301
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Skin ras...	ORPHA:35078
Mucopolysaccharidosis Type 2	Abnormal tricuspid valve morphology, Abnormal repetitive mannerisms, Retinal degeneration, Opposi...	ORPHA:580
Cogan Syndrome	Aortic regurgitation, Episcleritis, Keratitis, Leukocytosis, Vasculitis, Uveitis, Large vessel va...	ORPHA:1467
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Schwannoma, Ossifying fibroma, Genu valgum, Hypertrophic cardiomyopathy, Mitral regurg...	ORPHA:363700
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis	OMIM:175510
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Death in infancy, Eosinophilia, Delayed ossification of carpal bones, Erythroderma, Lymphopenia, ...	OMIM:617425
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Left ven...	ORPHA:308552
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Abnormal odontoid tissue morpho...	ORPHA:79255
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Melena, Leuk...	ORPHA:319218
Icf Syndrome	Abnormality of neutrophils, Protruding tongue, Malabsorption, Macroglossia, Lymphopenia, Anemia	ORPHA:2268
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis, Granulocytopenia,...	ORPHA:454831
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Intestinal lymphedema, B-cell lymphoma, Right ventricular failure, Celiac...	ORPHA:90363
Hyperekplexia 3	Exaggerated startle response, Hiatus hernia	OMIM:614618
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Agitation, Truncal titubation	OMIM:618056
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e...	OMIM:619573
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, B lymphocytopenia, Otitis media, Ab...	OMIM:602450
Hyperekplexia 2	Exaggerated startle response, Hiatus hernia	OMIM:614619
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosple...	OMIM:618278
Lujo Hemorrhagic Fever	Shock, Renal insufficiency, Maculopapular exanthema, Skin rash, Microscopic hematuria, Myocarditi...	ORPHA:319213
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancre...	OMIM:130650
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial...	ORPHA:96191
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Failure to thrive, Exaggerated startle response, Joint contracture, Optic nerve hypoplasia	OMIM:617864
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Vasculitis, Recurrent pneumonia, Decreased mean platelet volume, Hematochezia, Subconj...	OMIM:617718
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Multiple joint contractures, Lipoatrophy, Cardiomegaly, Tremor, He...	ORPHA:51
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Renal hypoplasia,...	OMIM:174000
Hyperekplexia 1	Umbilical hernia, Exaggerated startle response, Inguinal hernia	OMIM:149400
Floating-Harbor Syndrome	Restlessness, Atrial septal defect, Hypospadias, Small for gestational age, Impulsivity, Aggressi...	ORPHA:2044
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology...	ORPHA:228308
Hennekam Syndrome	Benign neoplasm of the central nervous system, Camptodactyly of finger, Craniosynostosis, Malabso...	ORPHA:2136
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, De...	OMIM:618460
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Neutropenia, T lymphocytopenia, Joint...	OMIM:607944
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Pancreatoblastoma, Pituitary co...	ORPHA:99889
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Hepatic hema...	OMIM:193300
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Cantú Syndrome	Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin...	OMIM:600802
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane...	OMIM:614162
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Loss of truncal subcutaneous adipose tissue, Cardiomegaly	ORPHA:2463
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flex...	OMIM:245600
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Failure to thri...	ORPHA:14
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Optic atrophy, Exaggerated startle response	OMIM:617281
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Optic atrophy, Contractures of the large joints, Dystonia, Impaired...	ORPHA:521426
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Elevated hepatic iron concentration, Atrial septal defect, Pan...	OMIM:619991
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Lipodystrophy, Camptodactyly of f...	OMIM:256040
Bohring-Opitz Syndrome	Retinal atrophy, Cardiomegaly, Bilateral wrist flexion contracture, Optic atrophy, Congenital con...	ORPHA:97297
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Choreoacanthocytosis	Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Hepatomegaly, Self-mutilation of tongue ...	ORPHA:2388
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Polycystic ovaries, Failure...	ORPHA:137675
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Hypospadias, Biliary tract abnormality, Hypoplasia of the uterus, ...	OMIM:137920
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Optic atrophy, Contractures of the large joints, Dysphagia, Failure...	OMIM:617527
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Right ventricular hypertrophy, Dysphagia	ORPHA:268
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Tay-Sachs Disease	Cherry red spot of the macula, Exaggerated startle response	OMIM:272800
Marburg Hemorrhagic Fever	Odynophagia, Uveitis, Abnormal number of granulocyte precursors, Leukopenia, Abnormal lymphocyte ...	ORPHA:99826
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Hepatoblastoma, Congenital diaphragmatic hernia, Card...	ORPHA:116
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, Cardiomyopathy, Cardiomegaly	ORPHA:158687
Floating-Harbor Syndrome	Inguinal hernia, Hypospadias, Aggressive behavior, Cryptorchidism, Glandular hypospadias, Epididy...	OMIM:136140
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Camptodactyly, Umbilical hernia, Hyper...	OMIM:252500
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Flexion contracture, Elevated circulating alanine aminotransferase co...	ORPHA:365
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Abnormal aortic arch morphology, Conotruncal defect, Cleft palate, Gast...	ORPHA:2306
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:232300
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature...	ORPHA:1677
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Exaggerated startle response, Dystonia, Bicuspid aortic valve, Ventricular sep...	ORPHA:438213
Congenital Tracheomalacia	Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re...	ORPHA:95430
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Failure to thrive, Optic nerve hypoplasia	OMIM:615574
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Tremor, Compulsive behaviors, Atrial se...	ORPHA:904
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality of connective tissue, Inguinal hernia, Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocele t...	OMIM:619522
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Aganglionic megacolon, Anemia, Malabsorption	ORPHA:935
Cushing Disease	Increased urinary cortisol level, Acne, Myocardial infarction, Pituitary corticotropic cell adeno...	ORPHA:96253
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C...	ORPHA:3472
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, ...	ORPHA:75565
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Reynolds Syndrome	Gastrointestinal hemorrhage, Raynaud phenomenon, Erythema nodosum, Splenomegaly, Lip telangiectas...	OMIM:613471
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Hyphema, Retinal arteritis, Panuveitis, Posterior uveitis	ORPHA:209959
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Choroidal neovascularization, Failure to thrive in infancy, Cardiomegaly...	ORPHA:51608
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Dysphagia	OMIM:618367
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ssbp2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ssbp2.

No publications found that use IMPC mice or data for Ssbp2.

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MGI Allele	Allele Type	Produced
Ssbp2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Ssbp2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ssbp2^{tm43066(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ssbp2^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ssbp2 MGI:1914220

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

X-ray

X-ray

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Ssbp2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data