Gene Summary

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

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
abnormal eye morphology Ssbp2tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased brain weight Ssbp2tm1b(KOMP)Wtsi HOM   Early adult 2.72×10-10
abnormal heart morphology Ssbp2tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased body length Ssbp2tm1b(KOMP)Wtsi HOM Early adult 6.79×10-05
increased lean body mass Ssbp2tm1b(KOMP)Wtsi HOM Early adult 3.15×10-08
increased heart weight Ssbp2tm1b(KOMP)Wtsi HOM Early adult 1.34×10-06
decreased grip strength Ssbp2tm1b(KOMP)Wtsi HOM Early adult 2.39×10-06
enlarged heart Ssbp2tm1b(KOMP)Wtsi HOM Early adult 0.00
impaired pupillary reflex Ssbp2tm1b(KOMP)Wtsi HOM Early adult 4.48×10-07
hyperactivity Ssbp2tm1b(KOMP)Wtsi HOM   Early adult 3.24×10-05
decreased liver weight Ssbp2tm1b(KOMP)Wtsi HOM   Early adult 3.97×10-06
abnormal bone structure Ssbp2tm1b(KOMP)Wtsi HOM Early adult 5.66×10-06
decreased bone mineral density Ssbp2tm1b(KOMP)Wtsi HOM Early adult 3.48×10-05
increased startle reflex Ssbp2tm1b(KOMP)Wtsi HOM Early adult 1.91×10-15
decreased total body fat amount Ssbp2tm1b(KOMP)Wtsi HOM Early adult 4.55×10-07
decreased bone mineral content Ssbp2tm1b(KOMP)Wtsi HOM Early adult 7.47×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Not available
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 Not available
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 Not available
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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood 0.0%
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
vesicular gland 0.0%
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.

Adult LacZ

LacZ Images Section

151 Images


XRay Images Forepaw

11 Images


XRay Images Whole Body Lateral 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 Skull Dorso Ventral Orientation

10 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
Acute lymphoblastic leukemia, Neutropenia, Abnormal renal physiology, Splenomegaly, Hepatosplenom... ORPHA:158057
Li-Fraumeni Syndrome 2
Meningioma, Stomach cancer, Breast carcinoma, Sarcoma, Glioma OMIM:609265
Acquired Idiopathic Sideroblastic Anemia
Neutropenia, Normochromic anemia, Splenomegaly, Pancytopenia, Increased megakaryocyte count, Anem... ORPHA:75564
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... OMIM:606719
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Anal canal squamous carcinoma, Verrucae, Chronic... ORPHA:217390
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Anemia, Bone marrow hypocellularity, Erythroid hypoplasia, Bone marrow ... ORPHA:318
Muir-Torre Syndrome
Sebaceous gland carcinoma, Malignant genitourinary tract tumor, Benign gastrointestinal tract tum... OMIM:158320
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia, Anemia, Bone ma... OMIM:619041
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Squa... OMIM:613736
Immunodeficiency 16
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Pancytopenia, Splenomegaly OMIM:615593
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Bone marrow hypocellularity, Squamous cell carcinoma OMIM:613988
Mismatch Repair Cancer Syndrome 1
Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom... OMIM:276300
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... ORPHA:443167
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... ORPHA:454840
Hereditary Mixed Polyposis Syndrome
Colorectal polyposis, Rectal polyposis, Thyroid carcinoma, Neoplasm of the rectum, Adenomatous co... ORPHA:157794
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Lymphoproliferative disorder, Lymphoma, Splenomegaly, Autoimm... OMIM:614470
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Ankle clonus, Pancytopeni... OMIM:159550
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Nasal chondritis, Myelodysplasia, Thromb... OMIM:301054
Apc-Related Attenuated Familial Adenomatous Polyposis
Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,... ORPHA:247806
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Punctate Palmoplantar Keratoderma Type 1
Neoplasm of the lung, Esophageal neoplasm, Stomach cancer, Adenocarcinoma of the small intestine,... ORPHA:79501
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Schopf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Apocrine hidrocystoma, Basal cell carcinoma, Poroma OMIM:224750
Familial Adenomatous Polyposis 1
Adrenocortical carcinoma, Osteoma, Astrocytoma, Adrenocortical adenoma, Adenomatous colonic polyp... OMIM:175100
Wt Limb-Blood Syndrome
Hypoplastic anemia, Leukemia, Pancytopenia, Thrombocytopenia, Joint contracture of the 5th finger... OMIM:194350
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Telangiectasia of the skin, Abnormality of neutrophil physi... ORPHA:542592
Acute Panmyelosis With Myelofibrosis
Abnormality of bone marrow stromal cells, Pancytopenia, Myelofibrosis, Acute myelomonocytic leuke... ORPHA:86843
Xeroderma Pigmentosum Variant
Telangiectasia, Basal cell carcinoma, Keratitis, Squamous cell carcinoma, Melanoma ORPHA:90342
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Bone Marrow Failure Syndrome 1
Pancytopenia, Myelodysplasia, Aplastic anemia, Bone marrow hypocellularity OMIM:614675
Cheilitis Glandularis
Abnormal salivary gland morphology, Squamous cell carcinoma, Neoplasm ORPHA:1221
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Myelodysplasia, Lymphopenia, Myeloid leukem... OMIM:614172
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Schöpf-Schulz-Passarge Syndrome
Facial telangiectasia, Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Astrocytoma, Neoplasm of the adrenal gland, Cholangiocarcinoma, Aden... ORPHA:733
Ollier Disease
Hemangioma, Visceral angiomatosis, Lymphangioma, Anemia, Neoplasm, Chondrosarcoma, Sarcoma, Multi... ORPHA:296
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pancytopenia, Leukemia, Bone marrow hypocellularity, Myeloid leukemia, Aplastic anemia OMIM:614743
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Fanconi-Like Syndrome
Pancytopenia, Multiple cutaneous malignancies, Osteomyelitis OMIM:227850
Acquired Ichthyosis
Multiple myeloma, Neoplasm, Lymphoma, Sarcoma, Recurrent skin infections, Renal insufficiency ORPHA:454
Lymphedema, Primary, With Myelodysplasia
Leukemia, Myelodysplasia, Pancytopenia OMIM:614038
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Pancytopenia And Occlusive Vascular Disease
Leukopenia, Anemia, Pancytopenia, Thrombocytopenia, Peripheral arterial stenosis OMIM:167850
Li-Fraumeni Syndrome
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... OMIM:151623
Rhabdoid Tumor
Hypertension, Neoplasm of the central nervous system, Thrombocytopenia, Hematuria, Anemia, Neopla... ORPHA:69077
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Multiple gastric polyps, Anemia, Intussusception, Duode... OMIM:174900
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Infectious encephalitis, Burkitt lymphoma, Fulminant hepatitis, Lymphoma, Splenomega... OMIM:308240
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Cheilitis Glandularis
Cheilitis, Squamous cell carcinoma, Vascular dilatation, Carcinoma OMIM:118330
Fanconi Anemia, Complementation Group P
Horseshoe kidney, Pelvic kidney, Anemia, Squamous cell carcinoma, Pancytopenia OMIM:613951
Immunodeficiency 24
Lymphoproliferative disorder, Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:... OMIM:615897
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myelodysplasia, Bone marrow hypocellularity, Anemia, Myeloid leukemia, Pancytopenia, Aplastic ane... OMIM:614742
Progressive Osseous Heteroplasia
Sarcoma, Osteoarthritis ORPHA:2762
Mast Cell Sarcoma
Sarcoma, Mastocytosis, Splenomegaly ORPHA:66661
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile arthritis, Thrombocytosis, Cystic acne, Sterile abscess, Acne, Arthritis, Knee flexion co... OMIM:604416
Epidermodysplasia Verruciformis
Pustule, Seborrheic dermatitis, Verrucae, Telangiectasia of the skin, Recurrent skin infections, ... ORPHA:302
Primary Myelofibrosis
Abnormality of bone marrow cell morphology, Leukocytosis, Thrombocytosis, Hemangioma, Anemia, Abn... ORPHA:824
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Epidermodysplasia Verruciformis, Susceptibility To, 5
Verrucae, T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin OMIM:618309
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Squamous cell carcinoma, Punctate keratitis OMIM:602540
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Acute lymphoblastic leukemia, Neutropenia, Mye... ORPHA:486
Lymphoproliferative Syndrome 2
Hodgkin lymphoma, Lymphoproliferative disorder, EBV encephalitis, Lymphoma, Splenomegaly, Hepatos... OMIM:615122
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Eczema, Megaloblastic anemia, Septic arthritis, Recurrent pneu... OMIM:617780
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Recurrent otitis media, Lymphopenia, Recurrent gast... OMIM:615615
Gastrointestinal Stromal Tumor
Dysphagia, Gastrointestinal stroma tumor, Neoplasm of the rectum, Neoplasm of the stomach, Neopla... ORPHA:44890
Lymphoproliferative Syndrome 1
Hodgkin lymphoma, Leukopenia, Lymphoproliferative disorder, Stomatitis, Anemia, Splenomegaly, Aut... OMIM:613011
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Malabsorption, Abnormal mast cell ... ORPHA:98850
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Squamous cell carcinoma, Carcinoma OMIM:615225
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Dysphagia, Astrocytoma, Neoplasm of the adre... ORPHA:163634
Prostate neoplasm, Imbalanced hemoglobin synthesis, Neoplasm of the lung, Obstruction of the supe... ORPHA:99867
Xeroderma Pigmentosum, Variant Type
Cutaneous melanoma, Telangiectasia, Basal cell carcinoma, Keratitis, Squamous cell carcinoma, Con... OMIM:278750
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Megakaryocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Normochromic anemia, Raynaud phenomenon, Parotitis, Optic neuritis,... ORPHA:289390
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Colitis, Hepatitis, Acne, Splenomegaly, Recurr... OMIM:300635
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Skin rash, Pancytopenia OMIM:618963
Lig4 Syndrome
Telangiectasia, Psoriasiform dermatitis, Myelodysplasia, Micropenis, Pancytopenia, Thrombocytopenia OMIM:606593
Infantile Myofibromatosis
Neoplasm of the skin, Abnormal intestine morphology, Neoplasm of the lung, Chondrocalcinosis, Neo... ORPHA:2591
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Werner Syndrome
Ovarian neoplasm, Thyroid carcinoma, Meningioma, Acral lentiginous melanoma, Neoplasm of the smal... ORPHA:902
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Chromosome 5Q Deletion Syndrome
Myelodysplasia, Erythroid hypoplasia, Refractory macrocytic anemia, Megakaryocyte nucleus hypolob... OMIM:153550
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Decreased proportion of class-switched memory B cells, Obstruction of the... OMIM:615559
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Dysphagia, Spontaneous esophageal perforation, Anemia, Esophageal stricture, Squamous cell carcin... OMIM:226600
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Astrocytoma, Neoplasm of the stomach, Adenomatous colonic... ORPHA:220460
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Abnormality of bone marrow stromal cells, Macrocytic anemia, Myelodysplasia, Leuk... ORPHA:86841
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, Abnormal intestine morphology, Neutropenia in presence of anti-neutropil antibodies, Hepa... ORPHA:391487
Transcobalamin Deficiency
Neutropenia, Methylmalonic aciduria, Acute kidney injury, Lymphopenia, Pancytopenia, Thrombocytop... ORPHA:859
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Splenomegaly, Uveitis, Pancytopenia, Conjunctivitis, Autoimm... OMIM:614700
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Verrucae, Neutropenia, Lymphopenia OMIM:614868
Sarcoma, Varicose veins ORPHA:69078
Immunodeficiency 76
B lymphocytopenia, Colitis, Splenomegaly, B-cell lymphoma, Recurrent pneumonia, Lymphopenia, Deat... OMIM:619164
Lig4 Syndrome
Abnormality of bone marrow cell morphology, Leukocytosis, Acute leukemia, Telangiectasia of the s... ORPHA:99812
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the central nervous system, Anemia, Neoplasm ... ORPHA:83469
Oral Submucous Fibrosis
Cheilitis, Oropharyngeal squamous cell carcinoma ORPHA:357154
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Lymphoid leukemia, Brain neoplasm, Basal cell carcinoma, Squamous cell carcinom... ORPHA:79140
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Eosinophilia, Lymphocytoma cutis, Inflammat... ORPHA:449395
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczema, Myelodysplasia, Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, ... OMIM:616871
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Leukemia, Anemia, Thrombocytopenia OMIM:614082
Abnormality of bone marrow cell morphology, Myocarditis, Knee osteoarthritis, Septic arthritis, S... ORPHA:1304
Papillon-Lefèvre Syndrome
Neoplasm of the skin, Pustule, Chronic furunculosis, Recurrent cutaneous abscess formation, Perio... ORPHA:678
Neuroendocrine Neoplasm Of Appendix
Appendiceal mucinous neoplasm, Ovarian neoplasm, Midgut malrotation, Tricuspid stenosis, Palpitat... ORPHA:100079
Recurrent Respiratory Papillomatosis
Syncope, Recurrent pneumonia, Squamous cell carcinoma, Dysphagia ORPHA:60032
Dyskeratosis Congenita, Autosomal Dominant 1
Myelodysplasia, Interstitial pneumonitis, Anemia, Bone marrow hypocellularity, Squamous cell carc... OMIM:127550
Rothmund-Thomson Syndrome Type 1
Neoplasm of the skin, Telangiectasia, Genu varum, Patellar aplasia, Neutropenia, Myelodysplasia, ... ORPHA:221008
Rothmund-Thomson Syndrome Type 2
Neoplasm of the skin, Genu varum, Patellar aplasia, Neutropenia, Myelodysplasia, Cleft palate, Le... ORPHA:221016
Bloom Syndrome
Bronchiectasis, Leukemia, Facial telangiectasia in butterfly midface distribution, Lymphoma, Mala... OMIM:210900
Yellow Nail Syndrome
Sinusitis, Neoplasm of the lung, Bronchiectasis, Rhinitis, Biliary tract neoplasm, Pulmonary arte... ORPHA:662
Cardiomegaly OMIM:227150
Dyskeratosis Congenita, X-Linked
Hypospadias, Horseshoe kidney, Myelodysplasia, Hodgkin lymphoma, Leukopenia, Carcinoma, Urethral ... OMIM:305000
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:616435
Refractory Anemia
Abnormal cardiac ventricular function, Macrocytic anemia, Normocytic anemia, Neutropenia, Myelody... ORPHA:98826
Gaucher Disease, Type I
Hypertension, Multiple myeloma, Mitral regurgitation, Epistaxis, Anemia, Pulmonary arterial hyper... OMIM:230800
Immunodeficiency 59 And Hypoglycemia
Herpes simplex encephalitis, Decreased proportion of class-switched memory B cells, High palate, ... OMIM:233600
Paraneoplastic Pemphigus
Sarcoma, B-cell lymphoma, Thymoma ORPHA:63455
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Anemia, Splenomegaly, Reduced natural killer cell count, Skin rash, Enterocoliti... OMIM:616050
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha... ORPHA:3261
Rothmund-Thomson Syndrome
Neoplasm of the skin, Aplasia/Hypoplasia of the patella, Neutropenia, Myelodysplasia, Leukemia, B... ORPHA:2909
Large Congenital Melanocytic Nevus
Cutaneous melanoma, Neoplasm of the skin, Rhabdomyosarcoma, Neoplasm, Sarcoma ORPHA:626
Extracranial Carotid Artery Aneurysm
Hypertension, Total anomalous pulmonary venous return, Cerebral ischemia, Arterial fibromuscular ... ORPHA:494424
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Eczema, Esophageal varix, Raynaud phenomenon, Splenomegaly, Hepatosplenom... OMIM:615688
Shwachman-Diamond Syndrome
Sinusitis, Eczema, Neutropenia, Leukemia, Steatorrhea, Pancytopenia, Myelodysplasia, Bone marrow ... ORPHA:811
Immunodeficiency 40
Lymphopenia OMIM:616433
Neonatal Lupus Erythematosus
Hemolytic anemia, Dilated cardiomyopathy, Neutropenia, Prolonged QT interval, Atrioventricular bl... ORPHA:398124
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Cryptorchidism OMIM:617796
Immunodeficiency 8
Lymphopenia OMIM:615401
Brain abscess, Myocarditis, Septic arthritis, Granulomatosis, Conjunctivitis, Liver abscess, Peri... ORPHA:533
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Sarcoma, Death in infancy, Synostosis of carpal bones ORPHA:2098
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Bronchiectasis, Lymphadenitis, Recurrent otitis media... OMIM:618986
Oslam Syndrome
Osteosarcoma, Anemia, Neoplasm, Radioulnar synostosis OMIM:165660
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight, Osteopenia OMIM:608747
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Fanconi Anemia, Complementation Group N
Neuroblastoma, Aplastic anemia, Nephroblastoma, Medulloblastoma OMIM:610832
Multiple cutaneous malignancies, Keratoconjunctivitis sicca, Lymphangiectasis, Keratitis, Squamou... ORPHA:182
Shwachman-Diamond Syndrome 1
Neutropenia, Myelodysplasia, Nephrocalcinosis, Anemia, Persistence of hemoglobin F, Acute myeloid... OMIM:260400
Fetal Gaucher Disease
Abnormality of the spleen, Death in infancy, Intracranial hemorrhage, High palate, Neonatal death... ORPHA:85212
Aicardi-Goutieres Syndrome 4
Splenomegaly, Hepatosplenomegaly, Death in childhood, Pancytopenia, Thrombocytopenia OMIM:610333
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight, Chorioretinal degeneration OMIM:616311
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Congenital diaphragmatic hernia, Hypera... DECIPHER:39
Desmoid Tumor
Neoplasm of the skin, Hydronephrosis, Desmoid tumors, Malabsorption, Fibroma, Gastrointestinal he... ORPHA:873
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Sinusitis, Recurrent infection of the gastrointestinal tract, Neutropenia... ORPHA:572
Isovaleric Acidemia
Leukopenia, Bone marrow hypocellularity, Hyperglycinuria, Pancytopenia, Thrombocytopenia, Cerebel... OMIM:243500
Hypertension, Pneumonia, Chronic kidney disease, Hematuria, Hepatitis, Arthritis, Raynaud phenome... ORPHA:1855
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Exostoses, Multiple, Type I
Rib exostoses, Chondrosarcoma, Scapular exostoses, Genu valgum, Pelvic bone exostoses OMIM:133700
Fanconi Anemia, Complementation Group E
Horseshoe kidney, Neutropenia, Leukemia, Ectopic kidney, Anemia, Reticulocytopenia, Pancytopenia,... OMIM:600901
Chloramphenicol Toxicity
Aplastic anemia OMIM:515000
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Exostoses, Multiple, Type Ii
Rib exostoses, Chondrosarcoma, Scapular exostoses, Genu valgum, Pelvic bone exostoses OMIM:133701
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Splenomegaly, Absent natural killer cells, Hepa... ORPHA:2442
Primary Erythromelalgia
Leukemia, Vasculitis ORPHA:90026
Fanconi Anemia, Complementation Group A
Horseshoe kidney, Neutropenia, Leukemia, Ectopic kidney, Anemia, Reticulocytopenia, Pancytopenia,... OMIM:227650
Leukopenia, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage morphology, Pancytopenia, Thrombo... ORPHA:507
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia OMIM:600546
Acute leukemia, Chronic leukemia, Telangiectasia of the skin, Splenomegaly, Sarcoma, Gastrointest... ORPHA:98292
Immunodeficiency 19
Recurrent otitis media, Lymphopenia OMIM:615617
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Splenomegaly, Crohn's disease, Decreased basophil count, Decreased proportion of ... OMIM:618394
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Kid Syndrome
Trichilemmoma, Neoplasm of the skin, Acne inversa, Conjunctivitis, Folliculitis, Recurrent cutane... ORPHA:477
Kindler Epidermolysis Bullosa
Dysphagia, Inflammation of the large intestine, Cheilitis, Phimosis, Abnormality of the anus, Eso... ORPHA:2908
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Polymerase Proofreading-Related Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Endometrial carcinom... ORPHA:447877
Congenital Erythropoietic Porphyria
Neoplasm of the skin, Seborrhoeic blepharitis, Erythroid hyperplasia, Leukopenia, Purple urine, R... ORPHA:79277
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Dysphagia, Anemia, Ankyloglossia, Recurrent skin infections, Anal fissure... ORPHA:89842
Cowden Syndrome 1
High palate, Meningioma, Transitional cell carcinoma of the bladder, Carcinoma, Furrowed tongue, ... OMIM:158350
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Anemia, Genu valgum, Osteomyelitis, Hepatosplenomega... OMIM:259710
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Vascular calcification, Splenomegaly OMIM:231000
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Amed Syndrome, Digenic
Myelodysplasia, Leukopenia, Persistent left superior vena cava, Anemia, Bone marrow hypocellulari... OMIM:619151
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Telangiectasia, Erythroderma, Basal cell carcinoma, Malabsorption, In... OMIM:601675
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Keratoconjunctivitis sicca, Furrowed tongue, Knee flexion contracture, Recurrent bacterial skin i... OMIM:148210
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Fanconi Anemia, Complementation Group C
Horseshoe kidney, Neutropenia, Leukemia, Ectopic kidney, Bone marrow hypocellularity, Anemia, Ret... OMIM:227645
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Peritonitis, Intestinal perforation, Telangiectasia of the skin, In... ORPHA:679
Bone Marrow Failure Syndrome 3
Eczema, Bone marrow hypocellularity, Congenital hip dislocation, Acute myeloid leukemia, Pancytop... OMIM:617052
Milroy Disease
Neoplasm of the skin, Abnormal venous morphology, Ankle swelling, Angiosarcoma, Varicose veins, E... ORPHA:79452
Gardner Syndrome
Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ... ORPHA:79665
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Ankle swelling, Acute monocytic leukemia, Anemia, Hypochromic anemia, Oliguria, Lym... ORPHA:514
Blackfan-Diamond Anemia
Hypospadias, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Osteosarcoma, Reticulocytope... ORPHA:124
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Gastroesophageal reflux, Delayed closure of the anterior fontanelle ORPHA:251009
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colo... ORPHA:247798
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer... ORPHA:93126
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Leukopenia, Bone marrow hypocellularity, Esophageal stricture, Urethral s... OMIM:613989
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Esophageal varix, Retinal telangiectasia, Gastrointestinal hemorrhage, Pancytopenia, Portal hyper... OMIM:617341
Schnitzler Syndrome
Leukocytosis, Anemia, Arthritis, Lymphoma, Splenomegaly, Vasculitis, Skin rash ORPHA:37748
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Myelodysplasia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, H... ORPHA:231401
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Refract... OMIM:619523
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thr... ORPHA:88
Peutz-Jeghers Syndrome
Rectal prolapse, Neoplasm of the small intestine, Gastrointestinal hemorrhage, Abnormality of the... ORPHA:2869
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Portal hypertension, Recurrent aspiration pneumonia, Urinary retention, Anemia, Pulmonary hemorrh... ORPHA:79124
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia OMIM:617872
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Carcinoma, Pituitary adenoma, Carcinoid tumor, Renal angiomyolipoma, ... OMIM:610755
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... OMIM:618982
Keratoconjunctivitis sicca, High, narrow palate, Eczema, Neutropenia, Craniosynostosis, Anemia, J... ORPHA:33364
Fanconi Anemia, Complementation Group D2
Horseshoe kidney, Neutropenia, Leukemia, Pelvic kidney, Ectopic kidney, Bone marrow hypocellulari... OMIM:227646
Immunodeficiency 52
Death in infancy, Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma... OMIM:617514
Radiation Proctitis
Abnormal vascular morphology, Abnormality of gastrointestinal vasculature, Rectal fistula, Intest... ORPHA:70475
Osteopetrosis, Autosomal Recessive 5
Anemia, Decreased osteoclast count, Stillbirth, Splenomegaly, Absence of renal corticomedullary d... OMIM:259720
Propionic Acidemia
Eczema, Neutropenia, Anemia, Cardiomyopathy, Pancreatitis, Increased level of hippuric acid in ur... OMIM:606054
Tumor Predisposition Syndrome
Cutaneous melanoma, Meningioma, Lung adenocarcinoma, Renal cell carcinoma, Uveal melanoma OMIM:614327
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity OMIM:613987
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Cutaneous melanoma, Dilated cardiomyopathy, Dysphagia, Urinary bladder sphincter dysfunction, Iro... ORPHA:79408
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Stomatitis, Hematuria, Epistaxis, Anemia, Bone marrow hype... ORPHA:520
Li-Fraumeni Syndrome
Ovarian neoplasm, Acute lymphoblastic leukemia, Thyroid carcinoma, Astrocytoma, Choriocarcinoma, ... ORPHA:524
Livedoid Vasculopathy
Leukocytosis, Hypertension, Superficial dermal perivascular inflammatory infiltrate, Ischemic str... ORPHA:542643
Aregenerative Anemia
Abnormality of bone marrow cell morphology, Neutropenia, Abnormal proportion of CD8-positive T ce... ORPHA:101096
Monosomy 22
High palate, Meningioma, Hypochromic microcytic anemia, Gonadal neoplasm, Seborrheic dermatitis, ... ORPHA:96123
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Inflammation of the large intestine, Esophageal varix, Proximal tubulopathy, Pa... OMIM:614576
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Hereditary Acrokeratotic Poikiloderma
Eczema, Transitional cell carcinoma of the bladder, Pustule, Xerostomia, Abnormal preputium morph... ORPHA:2907
Methylmalonic Aciduria And Homocystinuria, Cblf Type
High palate, Neutropenia, Cystathioninuria, Methylmalonic aciduria, Stomatitis, Homocystinuria, M... OMIM:277380
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Nephrotic syndrome, Glomerular sclerosis, Anemia, Pancytopenia, Recu... OMIM:607426
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Takayasu Arteritis
Arteritis OMIM:207600
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hypertension, Neutropenia, Increased mean corpuscular volume, Hemolytic-uremic... ORPHA:2169
Transaldolase Deficiency
Telangiectasia, Coarctation of aorta, Anemia, Patent ductus arteriosus, Splenomegaly, Hepatosplen... OMIM:606003
Oncogenic Osteomalacia
Hyperphosphaturia, Carcinoma, Giant cell tumor of bone, Renal phosphate wasting, Osteosarcoma, Ne... ORPHA:352540
Severe Generalized Junctional Epidermolysis Bullosa
Ureteral obstruction, Dilated cardiomyopathy, Hydronephrosis, Pyoderma, Urinary retention, Pneumo... ORPHA:79404
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemoly... ORPHA:444463
Terminal Osseous Dysplasia
Fibroma, Cleft palate, Camptodactyly of toe, Camptodactyly of finger OMIM:300244
Temporal Arteritis
Retinal arteritis OMIM:187360
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hepatomegaly, Tremor, Hyperactivity, Ataxia OMIM:615924
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Neoplasm of the breast, Joint dislocation, Neoplasm of the thyroid gla... ORPHA:457059
Myelodysplasia, Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Hereditary Folate Malabsorption
Cheilitis, Megaloblastic anemia, Glossitis, Pancytopenia, Thrombocytopenia, Eosinophilia, Gastroe... ORPHA:90045
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis OMIM:618398
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Limited pronation/supination of forearm, Amegakaryocytic thrombocytopenia, Hip dislocation, Shall... OMIM:605432
Immunodeficiency 36
Chronic lymphatic leukemia, Bronchiectasis, Splenomegaly, B-cell lymphoma, Lymphopenia OMIM:616005
Potocki-Shaffer Syndrome
Hypertension, Anemia, Exostoses, Micropenis, Nephroblastoma ORPHA:52022
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Azoospermia, Hypogonadotropic hypogon... OMIM:235200
Xeroderma Pigmentosum, Complementation Group E
Telangiectasia, Basal cell carcinoma, Squamous cell carcinoma of the skin, Keratitis, Melanoma, C... OMIM:278740
Mccune-Albright Syndrome
Hyperphosphaturia, Renal tubular dysfunction, Benign gastrointestinal tract tumors, Hepatitis, Bo... ORPHA:562
Noonan Syndrome 12
Atopic dermatitis, Anteriorly placed anus, Supravalvular aortic stenosis, Tetralogy of Fallot, Ly... OMIM:618624
Refractory Anemia With Excess Blasts
Abnormality of bone marrow cell morphology, Leukocytosis, Retinal hemorrhage, Palpitations, Abnor... ORPHA:86839
Specific Granule Deficiency 2
Death in infancy, Neutropenia, Absent neutrophil specific granules, Myelodysplasia, Recurrent oti... OMIM:617475
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Lymphopenia, Plasmacytosis, Glomerulonephritis, Autoimmune hemolytic anemia OMIM:247800
Cleft palate, Leukemia, Lymphoma, Osteosarcoma, Vitreous hemorrhage, Pinealoma, Retinoblastoma, E... OMIM:180200
Aplastic Anemia
Aplastic anemia, Bone marrow hypocellularity OMIM:609135
Gaucher Disease Type 1
Leukopenia, Hematuria, Pulmonary arterial hypertension, Anemia, Splenomegaly, Hypersplenism, Prot... ORPHA:77259
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis, Cardiomegaly ORPHA:88643
Morm Syndrome
Retinal dystrophy, Truncal obesity, Hyperactivity, Micropenis, Retinal atrophy ORPHA:75858
Rothmund-Thomson Syndrome, Type 2
Telangiectasia, High palate, Basal cell carcinoma, Congenital hip dislocation, Osteosarcoma, Squa... OMIM:268400
Ovarian Fibrothecoma
Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis ORPHA:314478
Immunodeficiency 50
Eczema, Neutropenia, Lymphopenia OMIM:300988
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Hypogonadotropic ... ORPHA:465508
Xeroderma Pigmentosum, Complementation Group C
Cutaneous melanoma, Telangiectasia, Basal cell carcinoma, Squamous cell carcinoma of the skin, Ke... OMIM:278720
Autism Spectrum Disorder Due To Auts2 Deficiency
Umbilical hernia, Small for gestational age, Abnormal heart morphology, Arthrogryposis multiplex ... ORPHA:352490
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Osteopenia OMIM:269920
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Anemia, Splenomegaly, Osteomyelitis, Pancytopenia, Thrombocytopenia OMIM:259700
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly, Recurrent pneumonia, Trimethylaminuria OMIM:602079
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Telangiectasia of the skin, Pancytopenia, Hypoplasia of penis, Renal insufficiency ORPHA:85321
Gamma-Heavy Chain Disease
Abnormality of bone marrow cell morphology, Neoplasm of the tongue, Dysphagia, Abnormal lymphocyt... ORPHA:100026
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Methylmalonic aciduria, Reticulocytopenia, Pancytopenia, Megalobl... OMIM:275350
Cleft palate, Subretinal pigment epithelium hemorrhage, Rhabdomyosarcoma, Leukemia, Leiomyosarcom... ORPHA:790
Autoinflammatory Syndrome, Familial, Behcet-Like
Polyarticular arthritis, Colitis, Anterior uveitis, Lymphopenia, Skin rash, Ileal ulcer, Thromboc... OMIM:616744
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Dense calvaria, Splenomegaly, Hyperactivity, Joint stiffness, Asymmet... OMIM:252920
Tufted Angioma
Neoplasm of the skin, Anemia, Hemangioma of the lip, Facial hemangioma, Megakaryocytopenia, Throm... ORPHA:1063
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly ORPHA:79477
Dohle Bodies And Leukemia
Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies OMIM:223350
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Diffuse Neonatal Hemangiomatosis
Visceral angiomatosis, Anemia, Patent ductus arteriosus, Hemangiomatosis, Thrombocytopenia, Renal... ORPHA:2123
Dyskeratosis Congenita, Autosomal Dominant 6
Bone marrow hypocellularity, Esophageal stenosis, Oral leukoplakia, Pancytopenia, Aplastic anemia OMIM:616553
Neuraminidase Deficiency
Hepatomegaly, Cherry red spot of the macula, Epiphyseal stippling, Dysmetria, Cardiomegaly, Cardi... OMIM:256550
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive,... OMIM:212140
Squamous cell carcinoma of the skin ORPHA:79358
Felty Syndrome
Sinusitis, Neutropenia, Abnormal joint morphology, Synovitis, Pericarditis, Chronic otitis media,... ORPHA:47612
Huriez Syndrome
Squamous cell carcinoma of the skin OMIM:181600
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Death in childhood OMIM:200900
Sweet Syndrome
Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Inflammation of the large intes... ORPHA:3243
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Bazex Syndrome
Anemia, Neoplasm, Liposarcoma, Lung adenocarcinoma ORPHA:166113
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Cardiomyopathy, Death in infancy, Skin rash OMIM:618321
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Alpha-Mannosidosis, Adult Form
Pneumonia, Macroglossia, Aortic regurgitation, Oligosacchariduria, Hepatosplenomegaly, Pancytopen... ORPHA:309288
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Methylmalonic Aciduria, Cblb Type
Neutropenia, Methylmalonic aciduria, Anemia, Pancytopenia, Thrombocytopenia, Ketonuria OMIM:251110
Tuberous Sclerosis 2
Subungual fibromas, Cardiac rhabdomyoma, Astrocytoma, Ependymoma, Optic nerve glioma, Renal cell ... OMIM:613254
Neurofibromatosis Type 1
Neoplasm of the skin, Hypertension, Genu varum, Meningioma, Astrocytoma, Plexiform neurofibroma, ... ORPHA:636
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Pneumonia, Bronchiectasis, Chronic otitis media, Lymphoma, Splenom... ORPHA:1572
Bangstad Syndrome
Pancytopenia OMIM:210740
Lactose intolerance, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, C... ORPHA:443811
Alpha-Heavy Chain Disease
Abnormality of the small intestine, Anemia, Malabsorption, Lymphoma, Splenomegaly ORPHA:100025
Methylmalonic Aciduria, Cbla Type
Neutropenia, Methylmalonic aciduria, Anemia, Pancytopenia, Thrombocytopenia, Ketonuria OMIM:251100
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Thickened cortex of long bones, Cardiomegaly, Enamel hypo... OMIM:253250
Fanconi Anemia, Complementation Group B
Death in infancy, Duodenal atresia, Coarctation of aorta, Esophageal atresia, Patent ductus arter... OMIM:300514
Dubowitz Syndrome
Hypospadias, Neuroblastoma, Acute lymphoblastic leukemia, Eczema, High palate, Velopharyngeal ins... OMIM:223370
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Splenomegaly, Hypersplenism, Limited elbow extension, Pancytopenia, Hashimoto thyroidi... OMIM:613385
Hemophagocytic Lymphohistiocytosis, Familial, 2
Infectious encephalitis, Leukopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Skin rash, Pancyto... OMIM:603553
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, General... ORPHA:363400
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Abnormality of retinal pigmentation, Cardiomegaly, El... ORPHA:858
Hemophagocytic Syndrome Associated With An Infection
Abnormal inflammatory response, Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distrib... ORPHA:158048
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Tremor, Hyperactivity, Broad-based gait, Elbow flexion contracture OMIM:619470
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Seckel Syndrome 1
Hypospadias, Cleft palate, High palate, Dislocated radial head, Hip dislocation, Pancytopenia, El... OMIM:210600
Lung Cancer
Non-small cell lung carcinoma, Alveolar cell carcinoma, Lung adenocarcinoma OMIM:211980
Paroxysmal Nocturnal Hemoglobinuria
Odynophagia, Pulmonary embolism, Chronic kidney disease, Pancytopenia, Hemosiderinuria, Hemolytic... ORPHA:447
Lymphedema-Distichiasis Syndrome
Cleft palate, Tubulointerstitial nephritis, Patent ductus arteriosus, Fibrosarcoma, Varicose vein... ORPHA:33001
Whim Syndrome
Cutaneous melanoma, Sinusitis, Neutropenia, Cervix cancer, Pneumonia, Bronchiectasis, Lymphadenit... ORPHA:51636
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Elevated hepatic transaminase, Lethargy OMIM:619064
Primary Sclerosing Cholangitis
Spider hemangioma, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatocellular carcinoma, Cel... ORPHA:171
X-Linked Agammaglobulinemia
Sinusitis, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis media, Hepatitis, A... ORPHA:47
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Abnormal intestine morphology, Neutropenia, Cerebral i... ORPHA:1830
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Pneumonia, Lymphoproliferative disorder, Chronic oral cand... ORPHA:276
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Thrombocytopenia, Aplast... OMIM:613990
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, Laryngeal carcinoma, Carcinoma OMIM:610644
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Thrombocytopenia, Vacuolated lymphocytes, E... ORPHA:167
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Abnormal intestine morphology, Neutropenia in presence of anti-neutropil antibodies,... ORPHA:228426
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Inflammation of the large intestine, Neutropenia, Chronic otitis media, Hypopl... ORPHA:906
Immunodeficiency 13
B lymphocytopenia, Bronchiectasis, Recurrent otitis media, Decreased proportion of CD4-positive h... OMIM:615518
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Osteosarcoma, Osteomyelitis leading to amputation due to slow healing fractures, Hi... OMIM:112250
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Hypertension, Granulomatous coronary arteritis, Rheumatoid arthritis, Vascular dilatation, Iritis OMIM:108050
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Morphological abnormality of the gastrointestinal tract, Achalasia, Hypoperistalsis, Nephropathy,... ORPHA:1018
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Decreased urinary urate, Neoplasm, Decreased proportion of CD3-positi... ORPHA:760
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hyperactivity, Ataxia, Optic atrophy OMIM:300983
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Hepatomegaly, Cachexia, Cardiomegaly, Decreased liver function, Hepatic st... ORPHA:42
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia, Arthritis ORPHA:2582
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Pulmonary insufficiency, Inflammatory abnormality of the skin, Recu... ORPHA:277
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Elevated hepatic transa... OMIM:617713
Mucosal telangiectasiae, Telangiectasia of the skin, Lymphopenia, Neoplasm ORPHA:100
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Elevated he... OMIM:600649
Cronkhite-Canada Syndrome
Stomach cancer, Gastrointestinal carcinoma, Anemia, Neoplasm, Furrowed tongue, Splenomegaly, Mala... ORPHA:2930
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Splenomegaly, Parotitis, Acute pancreatitis, Pancytopen... ORPHA:99827
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neoplasm of the sk... OMIM:250250
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Hyperactivity, Abnormal cardiac septum morphology,... OMIM:614294
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Ventricular septal defect, Small for gestational age, C... OMIM:616897
Immunodeficiency 31C
Eczema, Abnormal intestine morphology, Villous atrophy, Chronic mucocutaneous candidiasis, Lympho... OMIM:614162
Lymphangiectasia, Intestinal
Stillbirth, Malabsorption, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Oculocutaneous Albinism Type 1B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:79434
Neuroblastoma, Susceptibility To, 1
Hypertension, Neuroblastoma, Ganglioneuroblastoma, Elevated urinary vanillylmandelic acid, Anemia... OMIM:256700
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Osteoporosis, Cardiomegaly, Large for gestational ag... OMIM:239850
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Eczema, Neutropenia, Thrombocytopenia, Leukopenia, Myelodysplasia, Noncompacti... ORPHA:508542
Adult Idiopathic Neutropenia
Abnormality of bone marrow cell morphology, Neutropenia, Helicobacter pylori infection, Monocytos... ORPHA:2688
Mu-Heavy Chain Disease
Abnormality of bone marrow cell morphology, Abnormal B cell count, Bence Jones Proteinuria, Anemi... ORPHA:100024
Coffin-Siris Syndrome 7
Abnormal heart morphology, Hyperactivity, Sagittal craniosynostosis, Abnormal cardiac septum morp... OMIM:618027
Attrv30M Amyloidosis
Weight loss, Vitreous floaters, Cardiomegaly, Cardiomyopathy ORPHA:85447
Carney Triad
Adrenocortical adenoma, Hypertension, Gastrointestinal stroma tumor, Anemia, Leiomyosarcoma, Tach... ORPHA:139411
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia... OMIM:613179
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Mitral valve prolapse, Steppage gait, Cardiomegaly, Inability to walk, Abnormal a... ORPHA:324410
Meige Disease
Varicose veins, Recurrent skin infections, Recurrent bacterial skin infections, Angiosarcoma ORPHA:90186
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Hypercalciuria, Thyroid carcinoma, Chondrocalcinosis, Dysphagia, Uterine l... ORPHA:99880
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Shuffling gait, Tremor, Hyperactivity, Resting tremor, Broad-based gait, Obesity ORPHA:3077
Omenn Syndrome
Leukocytosis, Erythroderma, Nephrotic syndrome, Pneumonia, Abnormal lymphocyte morphology, Anemia... ORPHA:39041
Osteopetrosis With Renal Tubular Acidosis
Hydronephrosis, High palate, Leukopenia, Distal renal tubular acidosis, Renal tubular acidosis, P... ORPHA:2785
Hemochromatosis, Type 3
Neutropenia, Anemia, Cardiomyopathy, Arthritis, Lymphopenia OMIM:604250
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hyperactivity, Optic atrophy, Lethargy OMIM:274270
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Small for gestational age, Abnormal reproductive system morph... ORPHA:1916
Fragile X Syndrome
Macroorchidism, postpubertal, Mitral valve prolapse, Congenital macroorchidism, Hyperactivity, Jo... OMIM:300624
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Aortic root aneurysm, Basal cell car... ORPHA:363618
Cowden Syndrome
Neoplasm of the skin, Meningioma, Endometrial carcinoma, Papilloma, Conjunctival hamartoma, High ... ORPHA:201
Parathyroid Carcinoma
Shortened QT interval, Dysphagia, Thyroid carcinoma, Chondrocalcinosis, Parathyroid carcinoma, Ut... ORPHA:143
Xeroderma Pigmentosum, Complementation Group B
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Neoplasm OMIM:610651
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Basal cell carcinoma, Squamous cell carcinoma of the skin, Arteriosclerosis, Skin rash, Melanoma ORPHA:220295
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hernia, Dense calvaria, Splenomegaly, Rod-cone dystrophy, Hyperactivity, Joint stif... OMIM:252930
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Pneumonia, Reduced red cell adenosine deaminase level, Splenomegaly... OMIM:102700
Immunodeficiency 23
Eczema, Allergic rhinitis, Neutropenia, Hodgkin lymphoma, High palate, Bronchiectasis, Aortic roo... OMIM:615816
Degcags Syndrome
Hypospadias, Pyloric stenosis, Patent ductus arteriosus, Hepatosplenomegaly, Chronic kidney disea... OMIM:619488
Gaucher Disease
Dysphagia, Death in infancy, Cherry red spot of the macula, Hematuria, Hepatitis, Joint dislocati... ORPHA:355
Pearson Syndrome
Abnormality of bone marrow cell morphology, Dysphagia, Neutropenia, Lacticaciduria, Cardiac condu... ORPHA:699
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Villous atrophy, Oligoarthritis, Reduced natural killer cell count, Decreas... OMIM:619510
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Martin-Probst Syndrome
Telangiectasia, Chordee, Micropenis, Pancytopenia, Proteinuria, Renal insufficiency OMIM:300519
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Small for gestational age, Ab... ORPHA:860
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Hypogonadism, Hyperactivity, Micropenis, Tremor, Abdominal obesity, Cryptorchidism, ... OMIM:300354
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Hernia, Joint hypermobility, Hypogonadism, Hyperactivity, Tetralogy of... ORPHA:3306
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Neutropenia, Anemia, Gout, Renal cyst, Vascular dilatation, N... OMIM:617056
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy