Gene Summary

single-stranded DNA binding protein 2
Hspc116,  9330163K02Rik,  2310079I02Rik,  A830008M03Rik,  1500004K09Rik,  Ssdp2

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 System Allele Zyg Sex Life Stage P Value
abnormal epididymis morphology Ssbp2tm1b(KOMP)Wtsi HOM Early adult 0.00
enlarged epididymis Ssbp2tm1b(KOMP)Wtsi HOM Early adult 0.00
increased lean body mass Ssbp2tm1b(KOMP)Wtsi HOM Early adult 3.10×10-08
decreased brain weight Ssbp2tm1b(KOMP)Wtsi HOM Early adult 2.33×10-10
decreased body length Ssbp2tm1b(KOMP)Wtsi HOM Early adult 5.61×10-05
decreased grip strength Ssbp2tm1b(KOMP)Wtsi HOM Early adult 2.19×10-05
abnormal eye morphology Ssbp2tm1b(KOMP)Wtsi HOM Early adult 0.00
increased heart weight Ssbp2tm1b(KOMP)Wtsi HOM Early adult 3.56×10-07
decreased liver weight Ssbp2tm1b(KOMP)Wtsi HOM Early adult 4.42×10-06
hyperactivity Ssbp2tm1b(KOMP)Wtsi HOM Early adult 1.98×10-05
increased startle reflex Ssbp2tm1b(KOMP)Wtsi HOM Early adult 8.62×10-16
impaired pupillary reflex Ssbp2tm1b(KOMP)Wtsi HOM Early adult 4.62×10-07
abnormal heart morphology Ssbp2tm1b(KOMP)Wtsi HOM Early adult 0.00
enlarged heart Ssbp2tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased total body fat amount Ssbp2tm1b(KOMP)Wtsi HOM Early adult 4.14×10-07

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%
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
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%
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%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.


XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

151 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Lateral Orientation

11 Images


XRay Images Hind Leg and Hip

10 Images


XRay Images Forepaw

11 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.

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 Similarity of
Matching phenotypes Source
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hodgkin lymphoma, Splenomegaly, Reduced natural killer cell count, Neutropenia, T-cell lymphoma, ... ORPHA:158057
Tumor Predisposition Syndrome 4
Stomach cancer, Glioma, Sarcoma, Meningioma, Breast carcinoma OMIM:609265
Acquired Idiopathic Sideroblastic Anemia
Abnormal megakaryocyte morphology, Normochromic anemia, Anemia of inadequate production, Bone mar... ORPHA:75564
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade... OMIM:606719
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Squamous cell carcinoma of the vulva, Squamous cell carcinoma, B lymphocyto... ORPHA:217390
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Megakaryocyte dysplasia, Pancytopenia, Increased mean corpuscular... OMIM:619041
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess form... OMIM:613736
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Bone marrow hypercellularity, Pancytopenia, Refractory anemia with ... ORPHA:318
Immunodeficiency 16
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Splenomegaly, Pancytopenia OMIM:615593
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Epidermodysplasia Verruciformis, Susceptibility To, 3
Verrucae, Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Mismatch Repair Cancer Syndrome 1
Basal cell carcinoma, T-cell lymphoma, Rhabdomyosarcoma, Pleomorphic xanthoastrocytoma, Leukemia,... OMIM:276300
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Pancreatic adenocarcinoma, Neoplasm of the rectum, Squamous cell carcinoma,... ORPHA:454840
Hereditary Mixed Polyposis Syndrome
Thyroid carcinoma, Hyperplastic colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, ... ORPHA:157794
Immunodeficiency 105
Death in childhood, Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B l... OMIM:619924
Nut Midline Carcinoma
Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom... ORPHA:443167
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Lymphoma, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopeni... OMIM:614470
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Ankle clonus, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic ... OMIM:159550
Immunodeficiency 21
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Mega... OMIM:614172
Colorectal Cancer, Susceptibility To, 12
Carcinoma, Colorectal polyposis OMIM:615083
Vexas Syndrome
Megakaryocyte dysplasia, Macrocytic anemia, Nasal chondritis, Arteritis, Arthritis, Inflammatory ... OMIM:301054
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Lipoma, Odontoma, Desmoid tumors, Fibroadenoma of the breast, Duodenal ... ORPHA:247806
Muir-Torre Syndrome
Basal cell carcinoma, Adenoma sebaceum, Ovarian neoplasm, Malignant genitourinary tract tumor, Be... OMIM:158320
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Basal cell carcinoma, Squamous cell carcinoma, Stomach cancer, Renal cell ca... ORPHA:79501
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Verrucae, Myelodysplasia, Decreased CD4:CD8 ratio, Leukemia OMIM:614038
Familial Adenomatous Polyposis 1
Fibroma, Osteoma, Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Carc... OMIM:175100
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Necrobiosis Lipoidica
Squamous cell carcinoma, Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormalit... ORPHA:542592
Familial Adenomatous Polyposis 3
Basal cell carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Bladder neopl... OMIM:616415
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Pancytopenia OMIM:616873
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Squamous cell carcinoma, Melanoma, Keratitis, Telangiectasia ORPHA:90342
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Schöpf-Schulz-Passarge Syndrome
Facial telangiectasia, Basal cell carcinoma, Ovarian neoplasm, Squamous cell carcinoma ORPHA:50944
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Cheilitis Glandularis
Abnormal salivary gland morphology, Squamous cell carcinoma, Neoplasm ORPHA:1221
Familial Adenomatous Polyposis
Lipoma, Odontoma, Pituitary adenoma, Desmoid tumors, Neoplasm of the gastrointestinal tract, Duod... ORPHA:733
Acute Panmyelosis With Myelofibrosis
Abnormal megakaryocyte morphology, Bone marrow hypercellularity, Acute myeloid leukemia, Increase... ORPHA:86843
Bone Marrow Failure Syndrome 1
Aplastic anemia, Bone marrow hypocellularity, Myelodysplasia, Pancytopenia OMIM:614675
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia OMIM:614743
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume, Pancytopenia OMIM:620044
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Acquired Ichthyosis
Lymphoma, Multiple myeloma, Sarcoma, Neoplasm, Recurrent skin infections, Renal insufficiency ORPHA:454
Ollier Disease
Anemia, Hemangioma, Chondrosarcoma, Sarcoma, Neoplasm, Multiple enchondromatosis, Visceral angiom... ORPHA:296
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Li-Fraumeni Syndrome
Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma... OMIM:151623
Fanconi-Like Syndrome
Osteomyelitis, Multiple cutaneous malignancies, Pancytopenia OMIM:227850
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hodgkin lymphoma, Recurrent sinusitis, Splenomegaly, Bronchiectasis, Absent circula... OMIM:620282
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Anemia, Colon cancer, Hematochezia, Intussusception, Du... OMIM:174900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Anemia, Gastroesophageal reflux, Pancytopenia, Bone marrow hypocellularity, Myel... OMIM:614742
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Anemia, Hematuria, Hypertension, Internal... ORPHA:69077
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Vasculitis, Fulminant hepatitis, ... OMIM:308240
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased proportion of ... OMIM:615897
Werner Syndrome
Miscarriage, Hypertension, Neoplasm, Abnormal cerebral vascular morphology, Acral lentiginous mel... ORPHA:902
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Squamous cell carcinoma, Sclerosing cholangitis, Cutaneous abscess, Atopi... OMIM:243700
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Schopf-Schulz-Passarge Syndrome
Apocrine hidrocystoma, Poroma, Basal cell carcinoma, Squamous cell carcinoma OMIM:224750
Progressive Osseous Heteroplasia
Sarcoma, Osteoarthritis ORPHA:2762
Fanconi Anemia, Complementation Group P
Anemia, Squamous cell carcinoma, Pancytopenia, Pelvic kidney, Horseshoe kidney OMIM:613951
Epidermodysplasia Verruciformis
Squamous cell carcinoma, Seborrheic dermatitis, Verrucae, Pustule, Telangiectasia of the skin, Re... ORPHA:302
Primary Myelofibrosis
Abnormal megakaryocyte morphology, Anemia, Thrombocytosis, Bone marrow hypercellularity, Pancytop... ORPHA:824
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Knee flexion contracture, Pancytopenia, Sterile abscess, Arthritis, Sterile arthritis, Elbow flex... OMIM:604416
Epidermodysplasia Verruciformis, Susceptibility To, 5
Verrucae, Lymphopenia, Squamous cell carcinoma of the skin, T lymphocytopenia OMIM:618309
Mast Cell Sarcoma
Sarcoma, Splenomegaly, Mastocytosis ORPHA:66661
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Hemangioma... ORPHA:486
Xeroderma Pigmentosum, Complementation Group F
Keratoacanthoma, Basal cell carcinoma, Squamous cell carcinoma, Neoplasm of the skin, Seborrheic ... OMIM:278760
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Stomatitis, Hodgkin lymphoma... OMIM:613011
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Neoplasm of the stomach, Intestinal obstruction, Gastrointestinal hemorrhage... ORPHA:44890
Lymphoproliferative Syndrome 2
Aplastic anemia, EBV encephalitis, Hemophagocytosis, Pancytopenia, Lymphoma, Hodgkin lymphoma, Re... OMIM:615122
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Punctate keratitis, Squamous cell carcinoma OMIM:602540
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Maculopapular exan... ORPHA:98850
Maffucci Syndrome
Neoplasm of the parathyroid gland, Hemangiomatosis, Ovarian neoplasm, Neoplasm of the adrenal cor... ORPHA:163634
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Corneal neovascularization, Chronic rhinitis, Squamous cell carcinoma OMIM:615225
Primary Sjögren Syndrome
Normochromic anemia, Optic neuritis, Leukopenia, Lymphopenia, Erythema nodosum, Normocytic anemia... ORPHA:289390
Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Neoplasm of the gastrointestin... ORPHA:99867
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Amegakaryocytic Thrombocytopenia, Congenital, 1
Megakaryocytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Folliculitis, Inflammation of the large intestin... OMIM:300635
Infantile Myofibromatosis
Fibroma, Intestinal obstruction, Neoplasm of the pancreas, Chondrocalcinosis, Gingival fibromatos... ORPHA:2591
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Skin rash, Leukocytosis, Hepatosplenomegaly, Splenomegaly... OMIM:618963
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Anemia, Squamous cell carcinoma, Abnormal esophagus morphology, Spontaneous esophageal perforatio... OMIM:226600
Attenuated Familial Adenomatous Polyposis
Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c... ORPHA:220460
Erythroleukemia, Familial, Susceptibility To
Anemia, Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Thrombocytopenia, Spl... OMIM:133180
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Cutaneous telangiectasia, Squamous cell carcinoma, Keratitis, Conjunctiviti... OMIM:278750
Transcobalamin Deficiency
Acute kidney injury, Pancytopenia, Thrombocytopenia, Lymphopenia, Methylmalonic aciduria, Megalob... ORPHA:859
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Bone marrow hypocellularity, Lymphopenia, Abnormally low T cell receptor excision c... OMIM:619767
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Actinic keratosis, Oropharyngeal squamous cell carcinoma, Facial telangiectasia, Breast carcinoma... OMIM:614564
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Neoplasm of the pancreas, Ovarian neoplasm, Anemia, Testi... ORPHA:83469
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal megakaryocyte morphology, Bone marrow hypercellularity, Erythroid hypoplasia, Acute myel... ORPHA:86841
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Oropharyngeal squamous cell carcinoma, Abnormal intestine morphology, Lymphopenia, Thyroiditis, R... ORPHA:391487
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Recurrent otitis media, Decreased proportion of class-switched memor... OMIM:615559
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Recurrent sinusitis, Splenomegaly, Erythema nodosum, Pancytopenia, Thyroidit... OMIM:614700
Cardiomegaly OMIM:227150
Sarcoma, Varicose veins ORPHA:69078
Oral Submucous Fibrosis
Cheilitis, Oropharyngeal squamous cell carcinoma ORPHA:357154
Miscarriage, Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Tr... ORPHA:1304
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia, Megakaryocyt... OMIM:153550
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Subcutaneous panniculitis-like T-cell lymphoma, Anemia, Hemophagocytosis, Panniculitis, Pancytope... OMIM:618398
Autoinflammatory-Pancytopenia Syndrome
Intestinal inflammation, Hemophagocytosis, Pancytopenia, Arthropathy, Chilblains, Granuloma, Hepa... OMIM:619858
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Merkel cell skin cancer, Squamous cell carcinoma of the skin, Brain neoplas... ORPHA:79140
Dyskeratosis Congenita, X-Linked
Oropharyngeal squamous cell carcinoma, Hodgkin lymphoma, Bone marrow hypocellularity, Leukopenia,... OMIM:305000
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Lymphocytoma cutis, Pericarditis, Cholecystitis, Urinary... ORPHA:449395
Recurrent Respiratory Papillomatosis
Syncope, Recurrent pneumonia, Dysphagia, Squamous cell carcinoma ORPHA:60032
Immunodeficiency 76
Death in childhood, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymp... OMIM:619164
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Lymphoma, Eczematoid dermatitis, Bone marrow hypocellu... OMIM:616871
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Palpitations, Midgut malrotation, Mechanical ileus, Hypotension, Adenocarcinoma... ORPHA:100079
Lig4 Syndrome
Acute leukemia, Abnormal bone marrow cell morphology, Hypoplasia of penis, Pancytopenia, Leukocyt... ORPHA:99812
Lig4 Syndrome
Pancytopenia, Chronic sinusitis, Acute lymphoblastic leukemia, Thrombocytopenia, Psoriasiform der... OMIM:606593
Fanconi Anemia, Complementation Group G
Anemia, Myelodysplasia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Acute Zonal Occult Outer Retinopathy
Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac... ORPHA:284454
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Hyperactivity, Abnormal heart mor... DECIPHER:39
Papillon-Lefèvre Syndrome
Liver abscess, Severe periodontitis, Squamous cell carcinoma, Periodontitis, Neoplasm of the skin... ORPHA:678
Miscarriage, Pericarditis, Pustule, Cholecystitis, Granulomatosis, Myocarditis, Acute kidney inju... ORPHA:533
Yellow Nail Syndrome
Renal neoplasm, Hypoplasia of lymphatic vessels, Neoplasm of the lung, Pulmonary arterial hyperte... ORPHA:662
Extracranial Carotid Artery Aneurysm
Arteriosclerosis, Arteritis, Vasculitis, Stroke, Hypertension, Cerebral ischemia, Total anomalous... ORPHA:494424
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the skin, ... OMIM:127550
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Squamous cell carcinoma of the tongue, Bone marrow hypocellularity, Oral leukoplakia OMIM:613988
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Skin rash, Enterocolitis, Thrombocytopenia, Splenomegaly, Diffuse alveolar ... OMIM:616050
Gaucher Disease, Type I
Anemia, Pancytopenia, Hypertension, Pulmonary arterial hypertension, Multiple myeloma, Aortic val... OMIM:230800
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Finger symphalangism, Basal cell carcinoma, Anemia, Patellar hypoplasia, Squamou... ORPHA:221008
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm of the skin, Sarcoma, Neoplasm, Cutaneous melanoma ORPHA:626
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Finger symphalangism, Basal cell carcinoma, Anemia, Patellar hypoplasia, Squamou... ORPHA:221016
Disabling Pansclerotic Morphea Of Childhood
Neutropenia, Squamous cell carcinoma of the skin, Lymphopenia OMIM:620443
Paraneoplastic Pemphigus
B-cell lymphoma, Sarcoma, Thymoma ORPHA:63455
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Single lineage m... ORPHA:98826
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Squamous cell carcinoma of the skin, Portal hypertension, Thrombocytopenia, Lymphopenia, ... OMIM:620365
Immunodeficiency 59 And Hypoglycemia
Recurrent aphthous stomatitis, Arteritis, Decreased proportion of class-switched memory B cells, ... OMIM:233600
Rothmund-Thomson Syndrome
Aplastic anemia, Basal cell carcinoma, Anemia, Squamous cell carcinoma, Malar rash, Aplasia/Hypop... ORPHA:2909
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypercellularity, Lymphocytosis, Neoplasm of the tongue, Neoplasm of the skin, Reticu... ORPHA:3261
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Hypertension, Bone marrow hypocellularity, Recurrent sinusitis, Leukopenia, Splenomega... OMIM:615688
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Anemia, Prolonged QT interval, Maculopapular exanthema, Pancytopeni... ORPHA:398124
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Bronch... OMIM:618986
Fetal Gaucher Disease
Stillbirth, Pancytopenia, High palate, Death in infancy, Neonatal death, Thrombocytopenia, Spleno... ORPHA:85212
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Hypertrophic cardiomyopathy, Obesity, Aggressive behavior OMIM:620270
Shwachman-Diamond Syndrome
Aplastic anemia, Steatorrhea, Macrocytic anemia, Skin rash, Chronic neutropenia, Sinusitis, Bone ... ORPHA:811
Oslam Syndrome
Osteosarcoma, Radioulnar synostosis, Anemia, Neoplasm OMIM:165660
Lymphangiectasis, Squamous cell carcinoma, Keratitis, Multiple cutaneous malignancies, Keratoconj... ORPHA:182
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Acromesomelic Dysplasia, Grebe Type
Sarcoma, Tarsal synostosis, Synostosis of carpal bones, Death in infancy ORPHA:2098
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Isovaleric Acidemia
Cerebellar hemorrhage, Pancytopenia, Hyperglycinuria, Bone marrow hypocellularity, Thrombocytopen... OMIM:243500
Shwachman-Diamond Syndrome 1
Steatorrhea, Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Nephrocal... OMIM:260400
Desmoid Tumor
Fibroma, Intestinal obstruction, Gastrointestinal hemorrhage, Intestinal polyposis, Neoplasm of t... ORPHA:873
Exostoses, Multiple, Type Ii
Genu valgum, Rib exostoses, Scapular exostoses, Chondrosarcoma, Pelvic bone exostoses, Multiple e... OMIM:133701
Exostoses, Multiple, Type I
Genu valgum, Rib exostoses, Scapular exostoses, Chondrosarcoma, Pelvic bone exostoses, Multiple e... OMIM:133700
Aicardi-Goutieres Syndrome 4
Death in childhood, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Squamous cell carcinoma, Knee flexion contracture, Elbow flexion contracture, Recurrent bacterial... OMIM:148210
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anemia, Anal fissure, Squamous cell carcinoma, Gastroesophageal reflux, Abnormal esophagus morpho... ORPHA:89842
Kid Syndrome
Corneal neovascularization, Neoplasm of the tongue, Neoplasm of the skin, Recurrent bacterial ski... ORPHA:477
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Retinal telangiectasia, Pancytopenia, Esophageal varix, Portal hyper... OMIM:617341
Fanconi Anemia, Complementation Group E
Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Horseshoe kidney, Leuk... OMIM:600901
Tumor Predisposition Syndrome 1
Malignant mesothelioma, Uveal melanoma, Renal cell carcinoma, Meningioma, Lung adenocarcinoma, Cu... OMIM:614327
Chloramphenicol Toxicity
Aplastic anemia OMIM:515000
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Squamous cell carcinoma OMIM:618373
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Primary Erythromelalgia
Vasculitis, Leukemia ORPHA:90026
Autoimmune hemolytic anemia, Hematuria, Juvenile rheumatoid arthritis, Pancytopenia, Vasculitis, ... ORPHA:1855
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Glossitis, Megaloblastic anemia, Abnormal h... ORPHA:35858
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Acute otitis media, Sclerosing cholangitis, Pancytopenia, Neutropeni... ORPHA:572
Kindler Epidermolysis Bullosa
Cheilitis, Anemia, Squamous cell carcinoma, Periodontitis, Phimosis, Esophagitis, Urethral strict... ORPHA:2908
Anemia, Pancytopenia, Abnormal macrophage morphology, Rhinitis, Leukopenia, Splenomegaly, Thrombo... ORPHA:507
Marcus Gunn pupil, Macular scar, Optic neuropathy OMIM:118400
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Brain neoplasm, Aden... ORPHA:447877
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Basal cell carcinoma, Squamous cell carcinoma, Death in infancy, Erythrod... OMIM:601675
Fanconi Anemia, Complementation Group A
Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Horseshoe kidney, Leuk... OMIM:227650
Epidermodysplasia Verruciformis, Susceptibility To, 2
Squamous cell carcinoma of the skin, Verruca plana OMIM:618231
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia OMIM:600546
Immunodeficiency 52
Death in childhood, Abnormal natural killer cell count, T lymphocytopenia, Death in infancy, Bron... OMIM:617514
Cowden Syndrome 1
Carcinoma, Thyroiditis, Fibroadenoma of the breast, High palate, Furrowed tongue, Lymphopenia, Ha... OMIM:158350
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Arteriosclerosis, Pancytopenia, Stroke, Hypertension, Transie... OMIM:242900
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Pancytopenia, Crohn's disease, Splenomegaly, Bronchiectasis, Decreased ... OMIM:618394
Congenital Erythropoietic Porphyria
Increased urinary porphobilinogen, Squamous cell carcinoma, Purple urine, Neoplasm of the skin, R... ORPHA:79277
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Persis... OMIM:619151
Gardner Syndrome
Neoplasm of the pancreas, Lipoma, Odontoma, Ampulla of Vater carcinoma, Desmoid tumors, Multiple ... ORPHA:79665
Fanconi Anemia, Complementation Group N
Aplastic anemia, Acute myeloid leukemia, Ectopic kidney, Unilateral renal agenesis, Pelvic kidney... OMIM:610832
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Cubitus valgus, High palate, Recurrent pneumonia, Hepatosplenomegaly, Mitral regurgitati... OMIM:619750
Bloom Syndrome
Squamous cell carcinoma, Malar rash, Lymphoma, Facial telangiectasia in butterfly midface distrib... OMIM:210900
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the tongue, Persistence of ... OMIM:618849
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Ischemic stroke, Arteritis, Intestinal... ORPHA:679
Diamond-Blackfan Anemia
Normochromic anemia, Macrocytic dyserythropoietic anemia, Malignant genitourinary tract tumor, Le... ORPHA:124
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Large intestinal polyposis, ... ORPHA:247798
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Iron deficiency anemia, Malar rash, Neu... OMIM:603909
Milroy Disease
Ankle swelling, Neoplasm of the skin, Erysipelas, Abnormal venous morphology, Angiosarcoma, Varic... ORPHA:79452
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Epis... OMIM:616216
Maternal Uniparental Disomy Of Chromosome 1
Delayed closure of the anterior fontanelle, Gastroesophageal reflux, Pancytopenia ORPHA:251009
Fanconi Anemia, Complementation Group C
Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocyto... OMIM:227645
Propionic Acidemia
Cerebellar hemorrhage, Increased level of hippuric acid in urine, Anemia, Pancreatitis, Pancytope... OMIM:606054
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Acute kidney injury, Abnormality of the gastrointestinal tract, Pancreat... ORPHA:93126
Gaucher Disease, Type Iii
Vascular calcification, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Acute Monoblastic/Monocytic Leukemia
Ankle swelling, Anemia, Bone marrow hypercellularity, Lymphocytosis, Acute monocytic leukemia, Le... ORPHA:514
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Herpes simplex encephalitis, Increased B cell count, Hepatosplenomegaly, ... OMIM:618982
Gaucher Disease Type 1
Anemia, Hematuria, Pancytopenia, Splenic infarction, Portal hypertension, Multiple myeloma, Pulmo... ORPHA:77259
Morm Syndrome
Retinal dystrophy, Hyperactivity, Retinal atrophy, Micropenis, Truncal obesity, Aggressive behavior ORPHA:75858
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Myelodysplasia... ORPHA:231401
Immunodeficiency 102
Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Chronic rhinitis... OMIM:301082
Peutz-Jeghers Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Biliary tract neoplasm, Multiple renal cysts... ORPHA:2869
Schnitzler Syndrome
Anemia, Vasculitis, Skin rash, Arthritis, Leukocytosis, Lymphoma, Splenomegaly ORPHA:37748
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Abnormal gastrointestinal v... ORPHA:70475
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Genu valgum, Anemia, Pancytopenia, Thrombocytopenia,... OMIM:259710
High, narrow palate, Anemia, Squamous cell carcinoma, Increased mean corpuscular hemoglobin conce... ORPHA:33364
Immunodeficiency 8 With Lymphoproliferation
Chronic oral candidiasis, Recurrent otitis media, Gastroesophageal reflux, Lymphopenia OMIM:615401
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Refractory anemia with ringed siderobl... OMIM:619523
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Abnormal preputium morphology, Squamous cell carcinoma... ORPHA:2907
Li-Fraumeni Syndrome
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... ORPHA:524
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Carcinoma, Hashimoto thyroiditis, Carcinoid tumor, Pituitary adenoma,... OMIM:610755
Acute Promyelocytic Leukemia
Anemia, Hematuria, Bone marrow hypercellularity, Pancytopenia, Stomatitis, Leukocytosis, Leukopen... ORPHA:520
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hypocellularity, Thrombo... ORPHA:88
Monosomy 22
Hypochromic microcytic anemia, Aplasia of the thymus, Seborrheic dermatitis, High palate, Sarcoma... ORPHA:96123
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Abnormal natural killer cell count, Pancytopenia, Chronic mucocutaneous candidiasis, Abno... ORPHA:79124
B-Cell Expansion With Nfkb And T-Cell Anergy
Lymphoid hyperplasia, Increased B cell count, Splenomegaly OMIM:616452
Fanconi Anemia, Complementation Group D2
Anemia, Esophageal atresia, Ectopic kidney, Pancytopenia, Pelvic kidney, Reticulocytopenia, Trach... OMIM:227646
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Pancytopenia, Pulmonary arterial hypertension, Thrombocytop... OMIM:613845
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastrointestinal inflammation, Anemia, Anal fissure, Squamous cell carcinoma, Gastroesophageal re... ORPHA:79408
Livedoid Vasculopathy
Ischemic stroke, Abnormal capillary morphology, Anemia, Pancytopenia, Venous insufficiency, Enlar... ORPHA:542643
Aregenerative Anemia
Erythroid hypoplasia, Abnormal bone marrow cell morphology, Pancytopenia, Abnormal proportion of ... ORPHA:101096
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Renal tubular epithelial necrosis, Anemia, Hydroureter, Squamous c... ORPHA:79404
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Stroke, Splenomegaly, Lymphopenia, Autoimmun... ORPHA:444463
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hy... ORPHA:2169
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Pancolitis, B lymphocytopenia, Inflammation of the large intestine, Bone marrow hyp... OMIM:620133
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Gastrointestinal hemorrhage, Anemia, Macrocytic anemia, Pancytopenia, Bone marro... OMIM:613990
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Pancytopenia, Proximal tubulopathy, Esophageal varix, Death in infancy... OMIM:614576
Oncogenic Osteomalacia
Renal phosphate wasting, Carcinoma, Neoplasm of head and neck, Giant cell tumor of bone, Neoplasm... ORPHA:352540
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Oral le... OMIM:613989
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia OMIM:617872
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Takayasu Arteritis
Arteritis OMIM:207600
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Pancytopenia, Glossitis, Cystathioninuria, Megaloblastic anemia, Homocystinuria, High pal... OMIM:277380
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Temporal Arteritis
Retinal arteritis OMIM:187360
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, ... OMIM:615615
Hereditary Folate Malabsorption
Cheilitis, Gastroesophageal reflux, Pancytopenia, Glossitis, Megaloblastic anemia, Thrombocytopen... ORPHA:90045
Transaldolase Deficiency
Anemia, Pancytopenia, Coarctation of aorta, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, P... OMIM:606003
Noonan Syndrome 12
Glabellar hemangioma, Atopic dermatitis, Thrombocytopenia, Tetralogy of Fallot, Lymphopenia, Ante... OMIM:618624
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Joint contracture of the 5th finger, Hyperactivity, Compulsive behaviors, Congen... ORPHA:352490
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal bone marrow cell morphology, Single lineage myelodysplasia, Dysp... ORPHA:86839
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma, Keratitis, Conjunctivitis, T... OMIM:278740
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hepatomegaly, Tremor, Dystonia OMIM:615924
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Chronic mucocutaneous candidiasis, Ve... OMIM:614868
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Glomerular sclerosis, Recurrent myoglobinuria, Pancytopenia, Focal segmental glomeruloscl... OMIM:607426
Dyskeratosis Congenita, Autosomal Dominant 6
Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Oral leukoplakia, Esophageal stenosis OMIM:616553
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Amegakaryocytic thrombocytopenia, Proximal radio-ulnar synostosis, Megakaryocyto... OMIM:605432
Basal Cell Nevus Syndrome 2
Basal cell carcinoma, Medulloblastoma, Meningioma, Neurofibroma, Angiofibromas OMIM:620343
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Specific Granule Deficiency 2
Death in childhood, Anemia, Recurrent otitis media, Death in infancy, Recurrent pneumonia, Thromb... OMIM:617475
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Superficial dermal perivascular inflammatory infiltrate, T l... OMIM:620632
Xeroderma Pigmentosum, Complementation Group C
Basal cell carcinoma, Actinic keratosis, Squamous cell carcinoma of the skin, Keratitis, Conjunct... OMIM:278720
Aplastic Anemia
Aplastic anemia, Bone marrow hypocellularity OMIM:609135
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Lipoma, Pilomatrixoma, Adenocarcinoma of the colon, Embryonal rhabdomyosarcoma, Multiple enchondr... OMIM:620189
Mccune-Albright Syndrome
Hepatocellular adenoma, Pancreatitis, Gastroesophageal reflux, Pancytopenia, Renal phosphate wast... ORPHA:562
Immunodeficiency 50
Eczematoid dermatitis, Neutropenia, Lymphopenia OMIM:300988
Vitreous hemorrhage, Retinoblastoma, Lymphoma, Ewing sarcoma, Cleft palate, Osteosarcoma, Pinealo... OMIM:180200
Ovarian Fibrothecoma
Fibrosarcoma, Peritonitis, Diffuse leiomyomatosis, Ovarian fibroma ORPHA:314478
Transcobalamin Ii Deficiency
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Methylmalonic a... OMIM:275350
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Abnormal bone marrow cell morphology, Neoplasm of the tongue... ORPHA:100026
Rothmund-Thomson Syndrome, Type 2
Basal cell carcinoma, Squamous cell carcinoma, High palate, Congenital hip dislocation, Osteosarc... OMIM:268400
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia, Pneumonia, Glomerulonephritis OMIM:247800
Tufted Angioma
Anemia, Neoplasm of the skin, Megakaryocytopenia, Hemangioma of the lip, Thrombocytopenia, Facial... ORPHA:1063
Griscelli Syndrome Type 2
Splenomegaly, Neutropenia, Hemophagocytosis, Pancytopenia ORPHA:79477
Neurofibromatosis Type 1
Rhabdomyosarcoma, Spinal neurofibroma, Pheochromocytoma, Neoplasm of the skin, Hypertension, Gast... ORPHA:636
Rhabdomyosarcoma, Vitreous hemorrhage, Leiomyosarcoma, Retinoblastoma, Subretinal pigment epithel... ORPHA:790
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Death in childhood, Refractory sideroblastic anemia, Villous atrophy, Anemia, Pancyt... OMIM:557000
Dyskeratosis Congenita, Digenic
Basal cell carcinoma, Anemia, Gastroesophageal reflux, Squamous cell carcinoma of the skin, Melan... OMIM:620040
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Terminal Osseous Dysplasia
Fibroma, Camptodactyly of finger, Cleft palate OMIM:300244
Congenital Toxoplasmosis
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Abnormality of r... ORPHA:858
Huriez Syndrome
Squamous cell carcinoma of the skin OMIM:181600
Osteopetrosis, Autosomal Recessive 1
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Craniosynostosis, Osteomyelitis OMIM:259700
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Polyarticular arthritis, Skin rash, Thrombocytopenia, Anterior uveitis, Lymphopenia,... OMIM:616744
Alpha-Mannosidosis, Adult Form
Pneumonia, Aortic regurgitation, Pancytopenia, Hepatosplenomegaly, Recurrent gastroenteritis, Mac... ORPHA:309288
Diffuse Neonatal Hemangiomatosis
Hemangiomatosis, Anemia, Thrombocytopenia, Patent ductus arteriosus, Visceral angiomatosis, Renal... ORPHA:2123
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Recurrent otitis media, Anemia, Unilateral renal agenesis, Patent ductus arteriosus, Pancytopenia... OMIM:620654
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Pancytopenia, Renal hypoplasia, Telangiectasia of the skin, Renal insufficiency ORPHA:85321
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Sweet Syndrome
Small vessel vasculitis, Acne, Anemia, Acute myeloid leukemia, Panniculitis, Chronic lymphatic le... ORPHA:3243
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Hip subluxation, Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, H... OMIM:259720
Hemophagocytic Lymphohistiocytosis, Familial, 2
Anemia, Hemophagocytosis, Pancytopenia, Skin rash, Leukopenia, Splenomegaly, Hepatosplenomegaly, ... OMIM:603553
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Dysplastic granulopoesis, Thrombocytopenia, Bone marrow arrest at the ... OMIM:620534
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Death in childhood, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Hatipoglu Immunodeficiency Syndrome
Recurrent otitis media, Anemia, Hypospadias, Pancytopenia, Atopic dermatitis, Eczematoid dermatitis OMIM:620331
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Limited elbow extension, Gastroesophageal reflux, Pancytopenia, Portal hypertension, Hashimoto th... OMIM:613385
Felty Syndrome
Chronic otitis media, Anemia, Arthritis, Abnormal lymphocyte morphology, Lymphoma, Synovitis, Sin... ORPHA:47612
Bazex Syndrome
Liposarcoma, Lung adenocarcinoma, Anemia, Neoplasm ORPHA:166113
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Oral leukoplakia OMIM:613987
Bangstad Syndrome
Pancytopenia OMIM:210740
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Tuberous Sclerosis 2
Retinal hamartoma, Adenoma sebaceum, Absence of renal corticomedullary differentiation, Wolff-Par... OMIM:613254
Chronic otitis media, Decreased proportion of CD3-positive T cells, T lymphocytopenia, Bone marro... ORPHA:443811
Methylmalonic Aciduria, Cblb Type
Anemia, Pancytopenia, Thrombocytopenia, Dilated cardiomyopathy, Methylmalonic aciduria, Ketonuria... OMIM:251110
Fanconi Anemia, Complementation Group B
Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, Death in infancy, Coarctation of ... OMIM:300514
Dyskeratosis Congenita, Autosomal Recessive 1
Aplastic anemia, Pancytopenia, Pterygium, Bone marrow hypocellularity, Thrombocytopenia, Oral leu... OMIM:224230
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Death in infa... OMIM:243150
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3-positive T c... ORPHA:760
Aicardi-Goutieres Syndrome 7
Hematemesis, Anemia, Pancytopenia, Vasculitis, Skin rash, Hypertension, Arthritis, Chilblains, At... OMIM:615846
Common Variable Immunodeficiency
Chronic otitis media, Vasculitis, Lymphoma, Anal atresia, Gastrointestinal stroma tumor, Bronchie... ORPHA:1572
Paroxysmal Nocturnal Hemoglobinuria
Hypertension, Abnormal erythrocyte enzyme concentration or activity, Reticulocytosis, Leukopenia,... ORPHA:447
Schimke Immuno-Osseous Dysplasia
Abnormal intestine morphology, Hypertension, Cerebral ischemia, Arteriosclerosis of small cerebra... ORPHA:1830
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Failure to thrive, Pericardial effusion, Dystonia, Ca... OMIM:614702
Primary Sclerosing Cholangitis
Congestive heart failure, Pancreatitis, Palmar telangiectasia, Renal insufficiency, Spider hemang... ORPHA:171
Systemic Lupus Erythematosus 17
Myelitis, Malar rash, Optic neuritis, Hypertensive crisis, Thrombocytopenia, Leukopenia, Raynaud ... OMIM:301080
Attrv30M Amyloidosis
Cardiomegaly, Vitreous floaters, Cardiomyopathy, Weight loss ORPHA:85447
Lymphedema-Distichiasis Syndrome
Fibrosarcoma, Conjunctivitis, Cleft palate, Arrhythmia, Proteinuria, Patent ductus arteriosus, Re... ORPHA:33001
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Carcinoma, Hypospadias, Laryngeal carcinoma OMIM:610644
Hemophagocytic Syndrome Associated With An Infection
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombocytopenia, Spl... ORPHA:158048
Seckel Syndrome 1
Hypospadias, Pancytopenia, Dislocated radial head, Elbow flexion contracture, High palate, Cleft ... OMIM:210600
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dysphagia, Stage 5 chronic kidney disease, Uterine neoplasm, Vaginal neoplasm, Tracheobronchial l... ORPHA:1018
Methylmalonic Aciduria, Cbla Type
Elevated urine 3-hydroxypropionic acid level, Anemia, Pancytopenia, Elevated urine 2-methylcitric... OMIM:251100
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He... OMIM:235200
Wiskott-Aldrich Syndrome
Hematemesis, Chronic otitis media, Sinusitis, Hematochezia, Abnormal platelet morphology, Epistax... ORPHA:906
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Failure to thrive, Hypertrophic cardiomyopathy OMIM:614096
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteosarcoma, Fibrosarcoma, Histiocytoma, Osteomyelitis leading to amputation due to slow healing... OMIM:112250
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Abnormal fear-induced behavior, Hyperactivity, Resting tremor, Tremor, Obesity, Macroor... ORPHA:3077
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Chronic mucocutaneous candidiasis, Increased B cell count, Increased T ce... ORPHA:98813
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Pneumonia, Decreased proportion of CD3-positive T cells, Skin rash, Dec... ORPHA:276
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Aggressiv... OMIM:252920
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Dystonia, Dysphagia, Restlessness, Cardiomegaly, Reti... ORPHA:391428
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Cardiomyopath... OMIM:212140
Inverted Duplicated Chromosome 15 Syndrome
Gonadal dysgenesis, Hyperactivity, Cryptorchidism, Precocious puberty, Tetralogy of Fallot, Motor... ORPHA:3306
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Thyroiditis, Abn... ORPHA:228426
X-Linked Agammaglobulinemia
Chronic otitis media, Anemia, Arthritis, Skin rash, Glossoptosis, Sinusitis, Conjunctivitis, Recu... ORPHA:47
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatomegaly, Generalized lipodystrophy, Hyperactivity, Tremor, Limb dystonia, Reduced... ORPHA:363400
Dubowitz Syndrome
Aplastic anemia, Hypospadias, Gastroesophageal reflux, High palate, Lymphoma, Eczematoid dermatit... OMIM:223370
Xeroderma Pigmentosum, Complementation Group A
Squamous cell carcinoma of the skin, Melanoma, Keratitis, Conjunctivitis, Telangiectasia OMIM:278700
Immunodeficiency 13
Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positiv... OMIM:615518
Chédiak-Higashi Syndrome
Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnormal natura... ORPHA:167
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Hepatospl... OMIM:619802
Whim Syndrome
Neutropenia, Bone marrow hypercellularity, Severe periodontitis, Parotitis, Lymphadenitis, Abnorm... ORPHA:51636
Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Anemia, Reticulocytosis, Hepatos... ORPHA:846
Mucosal telangiectasiae, Lymphopenia, Telangiectasia of the skin, Neoplasm ORPHA:100
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Failure to thrive in infancy, Hepatomegaly, Elevated circulating hepatic transamina... OMIM:619064
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor OMIM:619170
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Arthritis, Lymphopenia ORPHA:2582
Oculocutaneous Albinism Type 1B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:79434
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp... OMIM:300280
Carney Triad
Gastrointestinal hemorrhage, Anemia, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Hy... ORPHA:139411
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Death in childhood, Pancytopenia, Skin rash, Tachycardia, Dilated cardiomyopathy OMIM:618321
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Pulmonic valve myxoma, Cardiomegaly ORPHA:615
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Coarctation of aorta, Cleft palate, Leukopenia, Splenomegaly, Lymphopenia, Rec... OMIM:620210
Infantile Sialic Acid Storage Disease
Cardiomegaly, Failure to thrive, Hepatomegaly, Splenomegaly OMIM:269920
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Anemia, Megakaryocyte dysplasia, Panniculitis, B lymphocytopenia, Nonco... ORPHA:508542
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Hyperparathyroidism-Jaw Tumor Syndrome
Fibroma, Peptic ulcer, Thyroid carcinoma, Pancreatitis, Lipoma, Testicular neoplasm, Hypercalciur... ORPHA:99880
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Leukopenia, Splenomegaly, Epistaxis, Erythema nodosum, Di... ORPHA:99827
Adult Idiopathic Neutropenia
Bone marrow hypercellularity, Recurrent aphthous stomatitis, Abnormal bone marrow cell morphology... ORPHA:2688
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Anemia, Elevated urinary vanillylmandelic acid, Elevated ur... OMIM:256700
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Enamel hypoplasia, Myocardial fibrosis, Cardiomegaly, Pig... OMIM:253250
Parathyroid Carcinoma
Fibroma, Parathyroid carcinoma, Thyroid carcinoma, Peptic ulcer, Pancreatitis, Lipoma, Testicular... ORPHA:143
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Immunodeficiency 23
Aortic root aneurysm, Chronic mucocutaneous candidiasis, High palate, Allergic rhinitis, Eczemato... OMIM:615816
Omenn Syndrome
Anemia, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Leukocytosis, Lymphoma, Nephro... ORPHA:39041
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut... OMIM:613179
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Enamel hypoplasia OMIM:613576
Meige Disease
Recurrent skin infections, Angiosarcoma, Recurrent bacterial skin infections, Varicose veins ORPHA:90186
Fragile X Syndrome
Congenital macroorchidism, Hyperactivity, Macroorchidism, postpubertal, Recurrent hand flapping, ... OMIM:300624
Xeroderma Pigmentosum, Complementation Group B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma, Neoplasm OMIM:610651
Fanconi Renotubular Syndrome 5
Genu valgum, Tubulointerstitial fibrosis, Hypertension, Glycosuria, Lung adenocarcinoma, Proteinu... OMIM:618913
Cowden Syndrome
Lipoma, Neoplasm of the skin, Neoplasm, Neoplasm of the central nervous system, Adenoma sebaceum,... ORPHA:201
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Sinusitis,... ORPHA:277
Hemochromatosis, Type 3
Anemia, Arthritis, Cardiomyopathy, Lymphopenia, Neutropenia OMIM:604250
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Basal cell carcinoma, Arteriosclerosis, Skin rash, Squamous cell carcinoma of the skin, Melanoma ORPHA:220295
Lymphangiectasia, Intestinal
Stillbirth, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Basal cell carcinoma, Coronary artery atherosclerosis, Aortic root aneu... ORPHA:363618
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Eczematoid dermatitis, Decreased proportion of CD4-positive helper T cells, Ly... OMIM:619510
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Cardiomyopathy, Splenomegaly, Cherry red spot of the macula, Cardi... OMIM:256550
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Long-Olsen-Distelmaier Syndrome
Optic nerve hypoplasia, Elevated circulating alanine aminotransferase concentration, Failure to t... OMIM:620609
Degcags Syndrome
Abnormal spleen morphology, Pulmonic stenosis, Leukopenia, Congenital hypoplastic anemia, Cranios... OMIM:619488
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Pearson Syndrome
Steatorrhea, Anemia, Abnormal bone marrow cell morphology, Pancytopenia, Lacticaciduria, Cardiomy... ORPHA:699
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Developmental Delay, Language Impairment, And Ocular Abnormalities
Inguinal hernia, Hyperactivity, Frequent temper tantrums, Impulsivity, Pulmonic stenosis, Motor s... OMIM:620141
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Oculocutaneous Albinism Type 1A
Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79431
Martin-Probst Syndrome
Pancytopenia, Chordee, Proteinuria, Micropenis, Renal insufficiency, Telangiectasia OMIM:300519
Good Syndrome
Anemia, Abnormal leukocyte morphology, Sinusitis, Thrombocytopenia, Dysphagia, Thymoma, Bronchiec... ORPHA:169105
16P12.1P12.3 Triplication Syndrome
Abnormal tricuspid valve morphology, Abnormal intrahepatic bile duct morphology, Nail-biting, Hyp... ORPHA:485405