Gene Summary

Name:
transformation related protein 53
Synonyms:
p53,  p44

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina morphology Trp53tm1b(EUCOMM)Hmgu HOM   Early adult 1.69×10-07
increased startle reflex Trp53tm1b(EUCOMM)Hmgu HOM Early adult 2.28×10-12
preweaning lethality, incomplete penetrance Trp53tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased large unstained cell number Trp53tm1b(EUCOMM)Hmgu HOM   Early adult 3.83×10-06
persistence of hyaloid vascular system Trp53tm1b(EUCOMM)Hmgu HOM Early adult 1.18×10-06
decreased circulating creatine kinase level Trp53tm1b(EUCOMM)Hmgu HET Early adult 5.95×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 50% (1 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 0.68% (4 of 587)
aorta 0.17% (1 of 592)
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
esophagus 1.69% (7 of 414)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 586)
oral epithelium 0.0%
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
uterus 0.34% (2 of 589)
vascular system 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 Wholemount

23 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Human diseases caused by Trp53 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.

The table below shows human diseases associated to Trp53 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Primary ... ORPHA:145
Adrenocortical Carcinoma, Hereditary
Choroid plexus carcinoma, Adrenocortical carcinoma OMIM:202300
Breast Cancer
Breast carcinoma OMIM:114480
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Renal cell carcinoma, Neopl... OMIM:114500
Osteogenic Sarcoma
Osteosarcoma, Retinoblastoma OMIM:259500
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Glioma Susceptibility 1
Ependymoma, Astrocytoma, Glioblastoma multiforme OMIM:137800
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Familial Pancreatic Carcinoma
Neoplasm of the liver, Exocrine pancreatic insufficiency, Extrahepatic cholestasis, Breast carcin... ORPHA:1333
Nasopharyngeal Carcinoma
Neoplasia of the nasopharynx OMIM:607107
Adrenocortical Carcinoma
Lung adenocarcinoma, Adrenocorticotropic hormone deficiency, Hypokalemia, Hypertrichosis, Adrenoc... ORPHA:1501
Essential Thrombocythemia
Myelodysplasia, Acute leukemia, Abnormal platelet morphology, Splenomegaly ORPHA:3318
Papilloma Of Choroid Plexus
Neoplasm, Choroid plexus papilloma ORPHA:2807
Bone Marrow Failure Syndrome 5
Anemia, Testicular atrophy, Pure red cell aplasia, Hypogonadism OMIM:618165
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Osteosarcoma
Weight loss ORPHA:668

The table below shows human diseases predicted to be associated to Trp53 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Li-Fraumeni Syndrome 2
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Retinitis Pigmentosa 57
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy OMIM:613582
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma OMIM:135290
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation OMIM:131440
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Familial Adenomatous Polyposis 3
Bladder neoplasm, Meningioma, Neoplasm of the skin, Breast carcinoma OMIM:616415
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Epidermodysplasia Verruciformis, Susceptibility To, 3
Squamous cell carcinoma, Basal cell carcinoma OMIM:618267
Birt-Hogg-Dube Syndrome
Fibrofolliculoma, Renal neoplasm, Multiple pulmonary cysts, Large intestinal polyposis, Multiple ... OMIM:135150
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... ORPHA:157798
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Tumor Predisposition Syndrome 1
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... OMIM:614327
Glioma Susceptibility 9
Glioma, Renal neoplasm, Neoplasm of the lung, Leukemia, Astrocytoma OMIM:616568
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Drug Metabolism, Poor, Cyp2D6-Related
Neoplasm OMIM:608902
Cancer, Familial, With In Vitro Radioresistance
Neoplasm OMIM:114450
Nasopharyngeal Carcinoma, Susceptibility To, 2
Neoplasm OMIM:161550
Adamantinoma Of Long Bones
Neoplasm OMIM:102660
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Neoplasm OMIM:132800
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormality of the peritoneum ORPHA:2023
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Schwannomatosis 1
Schwannoma, Spinal cord tumor, Meningioma OMIM:162091
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Large Congenital Melanocytic Nevus
Neoplasm, Generalized hirsutism, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin ORPHA:626
Prostate Cancer/Brain Cancer Susceptibility
Neoplasm of the central nervous system, Prostate cancer OMIM:603688
Infantile Myofibromatosis
Neoplasm of the pancreas, Abnormal hair morphology, Tracheoesophageal fistula, Neoplasm of the lu... ORPHA:2591
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Fibromatosis, Gingival, 1
Gingival fibromatosis OMIM:135300
Schwannomatosis 2
Schwannoma, Spinal cord tumor OMIM:615670
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Primary ... ORPHA:145
Oslam Syndrome
Anemia, Osteosarcoma, Neoplasm OMIM:165660
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Mismatch Repair Cancer Syndrome 1
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... OMIM:276300
Adrenocortical Carcinoma, Hereditary
Choroid plexus carcinoma, Adrenocortical carcinoma OMIM:202300
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Multiple myeloma, Elevated circulating C-reactive p... ORPHA:158057
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Neoplasm of the breast, Neoplasm of the stomach, Abnormal hai... ORPHA:618
Familial Adenomatous Polyposis 4
Papilloma, Thyroid adenoma, Astrocytoma, Stomach cancer OMIM:617100
Hereditary Gingival Fibromatosis
Gingival fibromatosis ORPHA:2024
Breast Cancer
Breast carcinoma OMIM:114480
Erythroleukemia, Familial, Susceptibility To
Refractory anemia with ringed sideroblasts, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acu... OMIM:133180
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Schopf-Schulz-Passarge Syndrome
Sparse hair, Squamous cell carcinoma, Basal cell carcinoma, Poroma, Apocrine hidrocystoma OMIM:224750
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia OMIM:246470
Meningioma, Familial, Susceptibility To
Meningioma OMIM:607174
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... ORPHA:276399
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... ORPHA:454840
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Reticular hyperpigmentation, Abnormally low T cell receptor excision circle level, D... OMIM:619767
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Testicular Germ Cell Tumor
Choriocarcinoma, Embryonal neoplasm, Teratoma OMIM:273300
Fibromatosis, Gingival, With Progressive Deafness
Gingival fibromatosis OMIM:135550
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Pleuropulmonary Blastoma
Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma OMIM:601200
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Ovarian thecoma, Multinodul... OMIM:180295
Desmoid Tumor
Malabsorption, Desmoid tumors, Intestinal obstruction, Fibroma, Intestinal polyposis, Gastrointes... ORPHA:873
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme OMIM:619096
Subependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251639
Ependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251636
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyoma,... OMIM:150800
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma, Recurrent cutaneous abscess formation OMIM:613736
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Squamous cell carcino... ORPHA:50944
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Carcinoid tumor, Lymphoid leukemia, Basal cell carcinoma, Neoplasm of the outer... ORPHA:79140
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
Premature Aging Syndrome, Okamoto Type
Osteosarcoma, Neoplasm, Abnormal hair morphology OMIM:601811
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Fibromatosis, Gingival, 5
Gingival fibromatosis OMIM:617626
Optic Atrophy 2
Optic atrophy OMIM:311050
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Renal cell carcinoma, Neopl... OMIM:114500
Gonadoblastoma
Gonadoblastoma OMIM:424500
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma, Multinodular goiter, Nail dystrophy, Alopecia OMIM:618373
Hyperkeratosis Lenticularis Perstans
Squamous cell carcinoma, Basal cell carcinoma ORPHA:409
Dyskeratosis Congenita, Autosomal Dominant 2
Nail dysplasia, Abnormality of the dentition, Leukopenia, Oral leukoplakia, Aplastic anemia, Cere... OMIM:613989
Testicular Germ Cell Tumor 1
Germ cell neoplasia OMIM:300228
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy OMIM:616170
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous ... ORPHA:83469
Gluteal Muscles, Absence Of
Optic nerve hypoplasia OMIM:231970
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Osteosarcoma ORPHA:2760
Gestational Choriocarcinoma
Choriocarcinoma, Neoplasm, Trophoblastic tumor ORPHA:99926
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, B lymphocytopenia, T lymphocytopenia, Squamous cell carcinoma, Rec... ORPHA:217390
Optic Atrophy 5
Optic atrophy OMIM:610708
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... ORPHA:220460
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Dyskeratosis Congenita, Autosomal Dominant 1
Nail pits, Premature loss of teeth, Premature graying of hair, Lymphopenia, Reticular hyperpigmen... OMIM:127550
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma ORPHA:454
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... OMIM:165550
Mismatch Repair Cancer Syndrome 4
Adenomatous colonic polyposis, Non-Hodgkin lymphoma, Colon cancer, Glioblastoma multiforme, Astro... OMIM:619101
Polymerase Proofreading-Related Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... ORPHA:447877
Glioma Susceptibility 3
Medulloblastoma, Astrocytoma, Glioblastoma multiforme OMIM:613029
Oncogenic Osteomalacia
Hypophosphatemia, Giant cell tumor of bone, Hypocalcemia, Neurofibromas, Osteosarcoma, Neoplasm o... ORPHA:352540
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular schwannoma, Carcinoma OMIM:603641
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Microphthalmia, Isolated 8
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Anophthalmia, True anophthalmia, Mi... OMIM:615113
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Xeroderma Pigmentosum Variant
Squamous cell carcinoma, Melanoma, Basal cell carcinoma ORPHA:90342
Osteogenic Sarcoma
Osteosarcoma, Retinoblastoma OMIM:259500
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Stomach cancer, Neoplasm of the small intestine, Rectal prolapse, Gastroi... ORPHA:2869
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Reticulated skin pigmentation, Nail dystrophy, Pancytopenia, Bone marrow hypo... OMIM:613987
Polyposis Syndrome, Hereditary Mixed, 2
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... OMIM:610069
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Unilateral microphthalm... ORPHA:137902
Milroy Disease
Hydrocele testis, Angiosarcoma, Neoplasm of the skin ORPHA:79452
Dyskeratosis Congenita, Autosomal Dominant 3
Nail dysplasia, Cryptorchidism, Alopecia, Leukopenia, Oral leukoplakia, Aplastic anemia, Cerebell... OMIM:613990
Ollier Disease
Chondrosarcoma, Neoplasm, Lymphangioma, Anemia, Hemangioma, Multiple enchondromatosis, Sarcoma, V... ORPHA:296
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hemophagocytosis, Hepatic fa... OMIM:308240
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Hyperparathyroidism 2 With Jaw Tumors
Hurthle cell thyroid adenoma, Parathyroid adenoma, Parathyroid carcinoma, Nephroblastoma, Renal c... OMIM:145001
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... ORPHA:79501
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Glioma, Cleft palate, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteos... ORPHA:790
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dystrophy, Pancytopenia, Bone marrow hypocellularity, Oral... OMIM:613988
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Limb-girdle muscle weakness, Histiocytoma, Osteosarcoma, Limb muscle weakness, Prem... OMIM:112250
Dyskeratosis Congenita, Autosomal Recessive 1
Nail dysplasia, Sparse scalp hair, Pterygium of nails, Sparse eyelashes, Aplastic anemia, Microdo... OMIM:224230
Exostoses, Multiple, Type Ii
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses OMIM:133700
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Glioma Susceptibility 1
Ependymoma, Astrocytoma, Glioblastoma multiforme OMIM:137800
N Syndrome
Neoplasm, Leukemia, Cryptorchidism OMIM:310465
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis ORPHA:401911
Epidermodysplasia Verruciformis, Susceptibility To, 2
Squamous cell carcinoma of the skin, Verruca plana OMIM:618231
Dyskeratosis Congenita, Autosomal Dominant 6
Abnormality of the dentition, Aplastic anemia, Cerebellar hypoplasia, Esophageal stenosis, Pancyt... OMIM:616553
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Carney Triad
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Leiomyosa... ORPHA:139411
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma ORPHA:438274
Rhabdoid Tumor Predisposition Syndrome 1
Choroid plexus carcinoma, Medulloblastoma OMIM:609322
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Teratoma, Pineal
Teratoma OMIM:273120
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Dyskeratosis Congenita, Autosomal Recessive 6
Premature loss of teeth, Sparse hair, Alopecia, Cerebellar hypoplasia, Carious teeth, Abnormality... OMIM:616353
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy, Sarcoma ORPHA:66661
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Epidermodysplasia Verruciformis, X-Linked
Squamous cell carcinoma of the skin, Verrucae OMIM:305350
Familial Colorectal Cancer Type X
Neoplasm of the rectum, Neoplasm of the colon, Neoplasm of the pancreas, Pituitary adenoma, Neuro... ORPHA:440437
Bazex Syndrome
Lung adenocarcinoma, Neoplasm, Liposarcoma, Yellow nails, Nail dystrophy, Anemia ORPHA:166113
Necrobiosis Lipoidica
Squamous cell carcinoma, Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Retinitis Pigmentosa 71
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... OMIM:616394
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Multiple cutaneous leiomyomas, Uterine... ORPHA:523
Hereditary Mixed Polyposis Syndrome
Adenomatous colonic polyposis, Neoplasm of the rectum, Thyroid carcinoma, Prostate cancer, Hyperp... ORPHA:157794
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Arthritis, Vasculitis, Anemia, Lym... ORPHA:37748
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microcephaly, Cerebellar hypoplasia, Microphthalmia, Retinal dysplasia, Hypoplasia of the brainstem OMIM:615771
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly ORPHA:228312
Gastric Cancer
Stomach cancer OMIM:613659
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic pulmonary obstruction, Chronic br... OMIM:613490
Ganglioneuroma
Neoplasm of the adrenal gland, Multiple intestinal neurofibromatosis, Abnormal rectum morphology,... ORPHA:251992
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,... ORPHA:733
Lynch Syndrome
Neoplasm of the rectum, Neoplasm of the pancreas, Pituitary adenoma, Malabsorption, Ovarian neopl... ORPHA:144
Rhabdoid Tumor
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Hypercalcemia, Ane... ORPHA:69077
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mixed hypo- and hyperpigmentation of the skin, Nail dysplasia, Oral mucosal blisters, Hypermelano... ORPHA:79397
Liposarcoma
Sarcoma ORPHA:69078
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy, Microcephaly, Hypoplasia of the corpus callosum OMIM:616632
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Xeroderma Pigmentosum, Complementation Group F
Flexion contracture, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of ... OMIM:278760
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Aniridia ORPHA:1068
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Dysmetria, Acute myelomonocytic leukemia, Impaired vibration sensatio... OMIM:159550
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinencephaly, Microphthalmia, Agenesis of corpu... OMIM:218670
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Squamous cell carcinoma, Absent eyelashes, S... OMIM:602540
Budd-Chiari Syndrome
Cirrhosis, Hepatocellular carcinoma, Budd-Chiari syndrome OMIM:600880
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myeloid leukemia OMIM:616604
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Pallor, Poikilocytosi... OMIM:615234
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma OMIM:180200
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po... ORPHA:247798
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Lymphedema, Primary, With Myelodysplasia
Myelodysplasia, Pancytopenia, Verrucae, Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio OMIM:614038
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Hypophosphatemic rickets, Hypophosphatemia, Emphysema, Pulmonary fibrosis OMIM:618913
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colon cancer OMIM:609310
Lynch Syndrome I
Colon cancer OMIM:120435
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Cerebellar hypoplasia ORPHA:65288
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, Monocytosis, Autoimmune ... OMIM:614470
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... ORPHA:44890
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Agenesis of corpus callosum, Hypoplasia of the brainstem ORPHA:250972
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... ORPHA:70482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment, Hypoplasia of the pons, Cerebellar hypoplasia, Microp... OMIM:615181
Pilomatrixoma
Pilomatrixoma OMIM:132600
Epidermal Nevus Syndrome
Lipoma, Rhabdomyosarcoma, Spinal cord tumor, Weakness of long finger extensor muscles ORPHA:35125
Acute Myelomonocytic Leukemia
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Primary Erythromelalgia
Leukemia, Recurrent respiratory infections ORPHA:90026
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Cronkhite-Canada Syndrome
Neoplasm, Malabsorption, Hepatomegaly, Patchy alopecia, Stomach cancer, Splenomegaly, Alopecia, S... ORPHA:2930
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Nail dystrophy, Carcinoma OMIM:615225
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Cowden Syndrome 7
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... OMIM:616858
Nijmegen Breakage Syndrome
Cleft palate, T-cell lymphoma, Anorectal anomaly, Skeletal muscle atrophy, Anal atresia, Abnormal... ORPHA:647
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Pallor, Poikil... OMIM:615631
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Myelodysplasia, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Microcephaly, Optic disc pallor, Bone ... OMIM:618889
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microcephaly, Microphthalmia OMIM:617914
Msh3-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... ORPHA:480536
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma, Flexion contracture ORPHA:357154
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Premature graying of hair, Cerebellar hypoplasi... ORPHA:3322
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Nijmegen Breakage Syndrome
Anal atresia, Medulloblastoma, Glioma, Recurrent infection of the gastrointestinal tract, Cleft p... OMIM:251260
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Mixed hypo- and hyperpigmentation of the skin, Spotty hyperpigmentation, Oral mucosal blisters, H... ORPHA:79399
Epidermodysplasia Verruciformis
Squamous cell carcinoma, Verrucae ORPHA:302
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Cirrhosis, Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia OMIM:614743
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A... ORPHA:231401
Rothmund-Thomson Syndrome, Type 1
Sparse hair, Absent eyebrow, Hypothyroidism, Conical tooth, Absent eyelashes, Nail dystrophy, Mal... OMIM:618625
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Absent fingernail, Absent toenail, Dystrophic toenail, Nail dystrophy, Ero... ORPHA:231568
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Lymphoma, Myelodysplasia, Refractory anemia, Acute myeloid leukemia OMIM:616871
Revesz Syndrome
Sparse hair, Aplastic anemia, Cerebellar hypoplasia, Ridged fingernail, Fine hair, Nail dystrophy... OMIM:268130
Meige Disease
Angiosarcoma, Pleural effusion ORPHA:90186
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia OMIM:131400
Septooptic Dysplasia
Optic nerve hypoplasia, Agenesis of corpus callosum, Optic disc hypoplasia OMIM:182230
Pyomyositis
Testicular teratoma, Weight loss ORPHA:764
Ovarian Cancer
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma OMIM:167000
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Unclassified Myelodysplastic Syndrome
Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple lineage myelodysplasia ORPHA:98827
Common Variable Immunodeficiency
Anal atresia, Lymphopenia, Otitis media, Splenomegaly, Gastrointestinal stroma tumor, Autoimmune ... ORPHA:1572
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilic infiltration of the esophagus, Eosinophilia, Recurrent sinusitis, Squamous cell carc... OMIM:243700
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Myelodys... OMIM:614172
Werner Syndrome
Ovarian neoplasm, Neoplasm of the small intestine, Neoplasm of the oral cavity, White forelock, S... ORPHA:902
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Stroke, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recu... ORPHA:444463
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Nail dysplasia, Mottled pigmentation of the trunk and proximal extremities, Hypoplastic fifth toe... OMIM:131960
Medulloblastoma
Medulloblastoma OMIM:155255
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Intestinal bleeding, Uterine neoplasm, Multiple gastric polyps, Breast ... OMIM:175200
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Sparse body hair, Anonychia, Enamel hypoplasia, Abnormality of skin pigmen... ORPHA:79402
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum OMIM:618890
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Werner Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia, Osteosarcoma, Meningioma, Alopecia of scalp OMIM:277700
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Ethanolaminosis
Cardiomegaly OMIM:227150
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Agenesis of permanent teeth, Macrodontia, S... OMIM:602401
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Squamous cell carcinoma, Recurrent pneumonia, Dysph... ORPHA:60032
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Wt Limb-Blood Syndrome
Hypoplastic anemia, Joint contracture of the 5th finger, Pancytopenia, Cryptorchidism, Thrombocyt... OMIM:194350
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness, Rod-cone dystrophy OMIM:616389
Turcot Syndrome With Polyposis
Hepatoblastoma, Soft tissue neoplasm, Basal cell carcinoma, Intestinal polyposis, Cerebellar medu... ORPHA:99818
Localized Dystrophic Epidermolysis Bullosa, Nails Only
Fragile nails, Onychogryposis of fingernail, Onychogryposis of toenails, Absent toenail, Dystroph... ORPHA:158676
Neurofibromatosis, Type I
Optic nerve glioma, Plexiform neurofibroma, Parathyroid adenoma, Pheochromocytoma, Rhabdomyosarco... OMIM:162200
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Myelodysplasia, Pancytopenia, Anemia, Thrombocyto... OMIM:619041
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Epidermolysis Bullosa, Junctional 4, Intermediate
Macular hyperpigmented dermopathy, Carious teeth, Dental enamel pits, Nail dystrophy, Dystrophic ... OMIM:619787
Mosaic Variegated Aneuploidy Syndrome
Neoplasm, Duodenal atresia, Cleft palate, Stomach cancer, Muscular dystrophy, Nephroblastoma, Rha... ORPHA:1052
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Decreased circulating IgG level, Abnormal palmar dermatoglyphics... OMIM:620040
Retinitis Pigmentosa 62
Optic disc pallor, Rod-cone dystrophy OMIM:614181
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Oral mucosal blisters, Hypopigmentation of the skin, Abnormal fingernail morphology, Palmoplantar... ORPHA:89838
Xeroderma Pigmentosum, Variant Type
Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma OMIM:278750
Hirschsprung Disease
Intestinal obstruction, Intestinal polyposis, Functional abnormality of the gastrointestinal trac... ORPHA:388
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Flexion contracture, Alopecia, Abnormal esophagus morphology, Squamous cell carcinoma, Spontaneou... OMIM:226600
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Microphthalmia, Rhegmatogenous retinal detachment, Peripheral retinal avascu... ORPHA:891
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Absent thumbnail, Brachydactyly, Triphalangeal thumb, Conical tooth, Absent toenail, Nail dystrop... OMIM:124480
Craniotelencephalic Dysplasia
Microcephaly, Cerebellar hypoplasia, Arrhinencephaly, Optic atrophy, Septo-optic dysplasia, Micro... ORPHA:1528
Pachyonychia Congenita
Palmoplantar hyperhidrosis, Palmoplantar blistering, Palmar hyperkeratosis, Alopecia, Paronychia,... ORPHA:2309
Yellow Nail Syndrome
Neoplasm, Yellow nails, Renal neoplasm, Neoplasm of the lung, Pleuritis, Biliary tract neoplasm, ... ORPHA:662
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm, Breast carcinoma OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Renal neopla... ORPHA:587
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Chromosomal Instability With Tissue-Specific Radiosensitivity
Neoplasm, Abnormality of chromosome stability OMIM:215510
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Pachyonychia Congenita 2
Nail dysplasia, Palmoplantar hyperhidrosis, Sparse scalp hair, Sparse eyebrow, Subungual hyperker... OMIM:167210
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... OMIM:300635
Familial Pancreatic Carcinoma
Neoplasm of the liver, Exocrine pancreatic insufficiency, Extrahepatic cholestasis, Breast carcin... ORPHA:1333
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
X-Linked Intellectual Disability, Najm Type
Cerebral cortical atrophy, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Optic atr... ORPHA:163937
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of the subungual region, Oral mucosal blisters, Anonychia, Carious teeth, Abnormality... ORPHA:79411
Hereditary Acrokeratotic Poikiloderma
Abnormality of the dentition, Abnormal pigmentation of the oral mucosa, Ankyloglossia, Irregular ... ORPHA:2907
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Non-Hodgkin lymphoma, Hyper... ORPHA:3261
Isolated Congenital Digital Clubbing
Nail dysplasia, Hyperconvex nail, Broad finger, Broad fingertip, Clubbing of toes, Broad thumb, B... ORPHA:217059
Dyskeratosis Congenita
Hepatomegaly, Sparse hair, Alopecia, Abnormality of the dentition, Tracheoesophageal fistula, Car... ORPHA:1775
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Anal atresia, Acute myeloid leukemia OMIM:605724
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Rothmund-Thomson Syndrome Type 1
Sparse hair, Anemia, Aplasia/Hypoplasia of the eyebrow, Melanoma, Sparse or absent eyelashes, Apl... ORPHA:221008
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Lymphangioma, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Ne... ORPHA:137608
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Microphthalmia, Peripheral retinal avascularization, Falciform retin... OMIM:305390
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia OMIM:616873
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Multiple lineage myelodysplasia, Macrocytic anemia, Erythroid hypoplasi... ORPHA:86841
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Microcephaly OMIM:613638
Asbestos Intoxication
Interlobular septal thickening, Lung adenocarcinoma, Pleural thickening, Subpleural honeycombing,... ORPHA:2302
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonad... OMIM:613313
Rothmund-Thomson Syndrome Type 2
High palate, Sparse hair, Cleft palate, Anemia, Aplasia/Hypoplasia of the eyebrow, Melanoma, Spar... ORPHA:221016
Optic Atrophy 6
Optic atrophy OMIM:258500
Dyskeratosis Congenita, X-Linked
Alopecia, Carious teeth, Pancytopenia, Bone marrow hypocellularity, Reticulated skin pigmentation... OMIM:305000
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Storage Pool Platelet Disease
Myelodysplasia, Acute leukemia, Decreased mean platelet volume OMIM:185050
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Frontal cortical atrophy, Hypoplasia of the corpus callosum, Agenesis of ... ORPHA:228384
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae, Lymphopenia, T lymphocytopenia OMIM:618309
Interstitial Lung Disease 2
Alveolar cell carcinoma, Increased circulating antibody level, Cirrhosis, Cough, Decreased DLCO, ... OMIM:178500
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Premature graying of hair, Cirrhosis, Crackles, Mediastinal lymphadenopathy, Myeloid leukemia, Re... OMIM:614742
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Hirsutism, Fibrosarcoma, Peritonitis, Pleural effusion, Ovarian fibroma, ... ORPHA:314478
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Agenesis of corpus callosum, Dandy-... OMIM:618736
Monosomy 9Q22.3
Medulloblastoma, Odontogenic keratocysts of the jaw, Nephroblastoma, Rhabdomyosarcoma, Basal cell... ORPHA:77301
Mantle Cell Lymphoma
B-cell lymphoma, Weight loss, Abnormality of the gastrointestinal tract ORPHA:52416
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Hydrocephalus, Cerebellar hypoplasia, Chronic neutropenia, Spastic tetraplegia, Anemi... OMIM:619302
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Macular degeneration OMIM:618195
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Apla... ORPHA:2585
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Thrombocytopenia, Hepati... ORPHA:848
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Microphthalmia OMIM:251700
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic b... OMIM:619902
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Hepatomega... OMIM:601859
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly ORPHA:75563
Congenital Bile Acid Synthesis Defect Type 1
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic... ORPHA:79301
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Cervical lymphad... ORPHA:2442
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Torticollis, Ovarian neoplasm, Peripheral primitive neuroectodermal neo... ORPHA:370348
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Lymphoproliferativ... ORPHA:263665
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Baller-Gerold Syndrome
High palate, Anal atresia, Malabsorption, Cleft palate, Lymphoma, Osteosarcoma, Anteriorly placed... ORPHA:1225
Pachyonychia Congenita 1
Nail dystrophy, Oral leukoplakia, Onychogryposis, Palmoplantar hyperkeratosis OMIM:167200
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Meningioma, Nephroblastoma OMIM:602501
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Pallor, Leukopenia, Abnormal ma... ORPHA:507
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Cryptorchidism, Testicular seminoma, Abnormal stomach morphology ORPHA:281090
Pierre Robin Sequence With Facial And Digital Anomalies