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
decreased circulating creatine kinase level Trp53tm1b(EUCOMM)Hmgu HET Early adult 6.22×10-05
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
increased startle reflex Trp53tm1b(EUCOMM)Hmgu HOM Early adult 2.39×10-12
persistence of hyaloid vascular system Trp53tm1b(EUCOMM)Hmgu HOM Early adult 4.52×10-07
abnormal retina morphology Trp53tm1b(EUCOMM)Hmgu HOM   Early adult 1.89×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
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 N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 50% (1 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
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

15 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
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Adrenocortical Carcinoma, Hereditary
Adrenocortical carcinoma, Choroid plexus carcinoma OMIM:202300
Breast Cancer
Breast carcinoma OMIM:114480
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Primary peritoneal carcinoma, Ovarian neoplasm, Neoplasm of the pancre... ORPHA:145
Bone Marrow Failure Syndrome 5
Oral leukoplakia, Hypogonadism, Decreased circulating antibody level, Reticular hyperpigmentation... OMIM:618165
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Osteosarcoma OMIM:260500
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... OMIM:114500
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Glioma Susceptibility 1
Astrocytoma, Ependymoma, Glioblastoma multiforme OMIM:137800
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Familial Pancreatic Carcinoma
Peritoneal abscess, Intestinal pseudo-obstruction, Colon cancer, Pancreatic adenocarcinoma, Exocr... ORPHA:1333
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis, Myelody... ORPHA:3318
Adrenocortical Carcinoma
Hypertrichosis, Lung adenocarcinoma, Adrenocortical carcinoma, Hypokalemia, Adrenocorticotropic h... ORPHA:1501
Nasopharyngeal Carcinoma
Neoplasia of the nasopharynx OMIM:607107
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Neoplasm ORPHA:2807
Osteosarcoma
Weight loss ORPHA:668
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Adrenal hype... ORPHA:96253

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation OMIM:131440
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma, Verrucae OMIM:618267
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
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
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Birt-Hogg-Dube Syndrome 1
Spontaneous pneumothorax, Cutaneous leiomyoma, Colon cancer, Cutaneous leiomyosarcoma, Multiple l... OMIM:135150
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... ORPHA:157798
Drug Metabolism, Poor, Cyp2D6-Related
Neoplasm OMIM:608902
Cancer, Familial, With In Vitro Radioresistance
Neoplasm OMIM:114450
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Nasopharyngeal Carcinoma, Susceptibility To, 2
Neoplasm OMIM:161550
Adamantinoma Of Long Bones
Neoplasm OMIM:102660
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Retinitis Pigmentosa 42
Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Cystoid macu... OMIM:612943
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Prostate Cancer/Brain Cancer Susceptibility
Prostate cancer, Neoplasm of the central nervous system OMIM:603688
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormal peritoneum morphology ORPHA:2023
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Generalized hirsutism, Sarcoma, Rhabdomyosarcoma ORPHA:626
Fibromatosis, Gingival, 1
Gingival fibromatosis OMIM:135300
Schwannomatosis 2
Schwannoma, Spinal cord tumor OMIM:615670
Infantile Myofibromatosis
Neoplasm of the skin, Abnormal hair morphology, Benign neoplasm of the central nervous system, In... ORPHA:2591
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukemia, Leukopenia OMIM:620400
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Oslam Syndrome
Neoplasm, Osteosarcoma OMIM:165660
Adrenocortical Carcinoma, Hereditary
Adrenocortical carcinoma, Choroid plexus carcinoma OMIM:202300
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia, ... OMIM:133180
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia OMIM:252270
Breast Cancer
Breast carcinoma OMIM:114480
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Primary peritoneal carcinoma, Ovarian neoplasm, Neoplasm of the pancre... ORPHA:145
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Hodgkin lymphoma, Acute m... ORPHA:158057
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis OMIM:246470
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Oral leukoplak... OMIM:619767
Mismatch Repair Cancer Syndrome 1
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... OMIM:276300
Meningioma, Familial, Susceptibility To
Meningioma OMIM:607174
Glioma Susceptibility 2
Oligodendroglioma, Meningioma OMIM:613028
Fibromatosis, Gingival, With Progressive Deafness
Gingival fibromatosis OMIM:135550
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Testicular Germ Cell Tumor
Choriocarcinoma, Embryonal neoplasm, Teratoma OMIM:273300
Familial Melanoma
Abnormal hair morphology, Neoplasm of the pancreas, Melanoma, Neoplasm of the stomach, Neoplasm o... ORPHA:618
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... ORPHA:90039
Hereditary Gingival Fibromatosis
Gingival fibromatosis ORPHA:2024
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer OMIM:619096
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Subependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251639
Ependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251636
Bone Marrow Failure Syndrome 5
Oral leukoplakia, Hypogonadism, Decreased circulating antibody level, Reticular hyperpigmentation... OMIM:618165
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia ORPHA:46532
Fibromatosis, Gingival, 5
Gingival fibromatosis OMIM:617626
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi... ORPHA:79140
Desmoid Tumor
Neoplasm of the skin, Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, ... ORPHA:873
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Osteosarcoma OMIM:260500
Dermatofibrosarcoma Protuberans
Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal... OMIM:180295
Gonadoblastoma
Gonadoblastoma OMIM:424500
Optic Atrophy 2
Optic atrophy OMIM:311050
Testicular Germ Cell Tumor 1
Germ cell neoplasia OMIM:300228
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Squamous cell carcinoma, Aplasia/Hypoplasia of the eyebrow, Basal cell car... ORPHA:50944
Glioma Susceptibility 3
T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas... OMIM:613029
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma OMIM:601200
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Multiple cutaneous leiomyoma... OMIM:150800
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma, Recurrent cutaneous abscess formation OMIM:613736
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Desmoplastic Small Round Cell Tumor
Ileus, Anemia, Testicular neoplasm, Abnormal peritoneum morphology, Hepatomegaly, Sarcoma, Ovaria... ORPHA:83469
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Neoplasm, Osteosarcoma OMIM:601811
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... OMIM:114500
Schwannomatosis 1
Vestibular schwannoma, Spinal cord tumor, Peripheral schwannoma, Meningioma OMIM:162091
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Abnormality of the dentition, Dilated cardiomyopathy, Aplastic anemi... OMIM:613989
Gestational Choriocarcinoma
Choriocarcinoma, Trophoblastic tumor, Neoplasm ORPHA:99926
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
Optic atrophy OMIM:620569
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume, Osteosarcoma ORPHA:2760
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Verrucae, Squamous cell carcinoma of the vulva, Recurrent sinusitis, Squamous cell car... ORPHA:217390
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... OMIM:616415
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Peutz-Jeghers Syndrome
Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplasm of the rectum, Rectal pro... ORPHA:2869
Mismatch Repair Cancer Syndrome 4
Astrocytoma, Non-Hodgkin lymphoma, Adenomatous colonic polyposis, Glioblastoma multiforme, Colon ... OMIM:619101
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Oncogenic Osteomalacia
Neurofibroma, Neoplasm of head and neck, Hypocalcemia, Neoplasm of the skeletal system, Hypophosp... ORPHA:352540
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... OMIM:308240
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Sparse scalp hair, Carious teeth, Aplastic anemia, Oral leukoplakia,... OMIM:224230
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Nail dystrophy, Thrombocytopenia, Te... OMIM:613987
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Microphthalmia, Isolated 8
Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ... OMIM:615113
Stargardt Disease 1
Macular degeneration, Bull's eye maculopathy, Retinitis pigmentosa inversa OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology, Refractory anemia with ringed sideroblasts OMIM:182170
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Melanoma, Squamous cell carcinoma ORPHA:90342
Maffucci Syndrome
Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A... ORPHA:163634
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Milroy Disease
Neoplasm of the skin, Hydrocele testis, Angiosarcoma ORPHA:79452
Schopf-Schulz-Passarge Syndrome
Poroma, Apocrine hidrocystoma, Sparse body hair, Nail dystrophy, Squamous cell carcinoma, Basal c... OMIM:224750
Dyskeratosis Congenita, Autosomal Recessive 3
Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Nail dystrophy, Abnormality of skin ... OMIM:613988
Punctate Palmoplantar Keratoderma Type 1
Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Nail dys... ORPHA:79501
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Chronic myelomonocytic leukemia, Acute myeloid leukemia OMIM:616604
Glioma Susceptibility 1
Astrocytoma, Ependymoma, Glioblastoma multiforme OMIM:137800
Polyposis Syndrome, Hereditary Mixed, 2
Colon cancer, Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic pol... OMIM:610069
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Hypercalcemia, Papillary r... OMIM:145001
Dyskeratosis Congenita, Autosomal Dominant 6
Bone marrow hypocellularity, Abnormality of the dentition, Aplastic anemia, Oral leukoplakia, Pan... OMIM:616553
Dyskeratosis Congenita, Autosomal Dominant 1
Sparse hair, Bone marrow hypocellularity, Alopecia, Carious teeth, Aplastic anemia, Increased mea... OMIM:127550
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Progressive Osseous Heteroplasia
Sarcoma, Abnormality of the parathyroid gland ORPHA:2762
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Myelodysplasia, Abnormal... ORPHA:86841
Retinoblastoma
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... ORPHA:790
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Histiocytoma, Skeletal muscle atrophy, Premature graying of hair, Limb muscle weakness, Myopathy,... OMIM:112250
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Rhabdoid Tumor Predisposition Syndrome 1
Choroid plexus carcinoma, Medulloblastoma OMIM:609322
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Ollier Disease
Neoplasm, Hemangioma, Anemia, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Chondros... ORPHA:296
Exostoses, Multiple, Type Ii
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma OMIM:133701
Exostoses, Multiple, Type I
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma OMIM:133700
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia OMIM:614082
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Premature graying of hair, Pancytopenia, Cryptorchidism, Neutropenia, Alopecia, ... OMIM:613990
Teratoma, Pineal
Teratoma OMIM:273120
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Carney Triad
Gastrointestinal hemorrhage, Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tu... ORPHA:139411
N Syndrome
Leukemia, Neoplasm, Cryptorchidism OMIM:310465
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymphadenopathy ORPHA:66661
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Drusen, Macular scar OMIM:615439
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Dyskeratosis Congenita, Autosomal Recessive 6
Bone marrow hypocellularity, Alopecia, Carious teeth, Oral leukoplakia, Nail dystrophy, Cerebella... OMIM:616353
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... OMIM:616394
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology ORPHA:438274
Schnitzler Syndrome
Vasculitis, Lymphoma, Leukocytosis, Splenomegaly, Skin rash, Anemia, Lymphadenopathy, Arthritis, ... ORPHA:37748
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neop... ORPHA:440437
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Agenesis of corpus callosum, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Phakomatosis Pigmentokeratotica
Cutaneous melanoma, Pheochromocytoma, Hypophosphatemic rickets, Cryptorchidism, Nephroblastoma, H... ORPHA:2874
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Necrobiosis Lipoidica
Squamous cell carcinoma, Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Abnormality of the dentition, Mottled pigmentation, Alopecia, Hypermelanotic macule, Nail dystrop... ORPHA:79397
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232
Hereditary Mixed Polyposis Syndrome
Hematochezia, Intussusception, Refractory anemia, Adenomatous colonic polyposis, Endometrial carc... ORPHA:157794
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... ORPHA:523
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Gangl... ORPHA:251992
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Bazex Syndrome
Yellow nails, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Anemia, Liposarcoma ORPHA:166113
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Cerebellar atrophy, Impaired vibration sensati... OMIM:159550
Basal Cell Nevus Syndrome 2
Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma OMIM:620343
Pilomatrixoma
Pilomatrixoma OMIM:132600
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of ... OMIM:620189
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Gastric Cancer
Stomach cancer OMIM:613659
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... OMIM:615285
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Xeroderma Pigmentosum, Complementation Group F
Neoplasm of the skin, Squamous cell carcinoma, Basal cell carcinoma, Keratoacanthoma, Seborrheic ... OMIM:278760
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Lynch Syndrome
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop... ORPHA:144
Retinoblastoma
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma OMIM:180200
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
Rhabdoid Tumor
Neoplasm of the liver, Anemia, Thrombocytopenia, Renal neoplasm, Sarcoma, Hypercalcemia, Neoplasm... ORPHA:69077
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Sparse eyelashes, Absent eyelashes, Squamous cell carcinoma, Scarring alopecia of... OMIM:602540
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Liposarcoma
Sarcoma ORPHA:69078
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:250972
Budd-Chiari Syndrome
Budd-Chiari syndrome, Cirrhosis, Hepatocellular carcinoma OMIM:600880
Lymphedema, Primary, With Myelodysplasia
Verrucae, Pancytopenia, Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Myelodysplasia OMIM:614038
Acute Myelomonocytic Leukemia
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Lymphoproliferative disorder, Pancytopenia, Splenomegaly, Hepatomegaly, Lymphocytosis, ... OMIM:614470
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hypoplasia, Retinal detachment, M... OMIM:615181
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... ORPHA:402823
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta... ORPHA:247798
Familial Adenomatous Polyposis 2
Colon cancer, Adenomatous colonic polyposis OMIM:608456
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm... ORPHA:44890
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Cerebellar hypoplasia, Optic nerve hypoplasia ORPHA:65288
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic... OMIM:615631
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Fanconi Renotubular Syndrome 5
Emphysema, Hypophosphatemic rickets, Lung adenocarcinoma, Hypophosphatemia, Pulmonary fibrosis OMIM:618913
Epidermal Nevus Syndrome
Lipoma, Rhabdomyosarcoma, Spinal cord tumor, Weakness of long finger extensor muscles ORPHA:35125
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Elevated circulating hepatic transaminase ... OMIM:613490
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Lymphoma, Leukopenia, Acute myeloid leukemia, Monocytosis, Myelodysplasia, Refractory anemia OMIM:616871
Lynch Syndrome 2
Colon cancer OMIM:609310
Lynch Syndrome 1
Colon cancer OMIM:120435
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Hoyeraal-Hreidarsson Syndrome
Bone marrow hypocellularity, Generalized hypopigmentation of hair, Oral leukoplakia, Premature gr... ORPHA:3322
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Alopecia, Dystrophic toenail, Sparse body hair, Furrowed tongue, Stom... ORPHA:2930
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Primary Erythromelalgia
Leukemia, Recurrent respiratory infections ORPHA:90026
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Abnormality of the dentition, Spotty hyperpigmentation, Nail dystrophy, Mixed hypo- and hyperpigm... ORPHA:79399
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia OMIM:610738
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
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
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Leukemia OMIM:614743
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... ORPHA:480536
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Microcephaly, Bone spicule pigmentatio... OMIM:618889
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma, Flexion contracture ORPHA:357154
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Squamous cell car... ORPHA:60032
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Conical tooth, Nail dystrophy, Absent eyelashes, Hypothyroidism, Absent eyebro... OMIM:618625
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Nijmegen Breakage Syndrome
Acute leukemia, Glioma, Abnormal hair morphology, Anal atresia, Autoimmune hemolytic anemia, Low ... ORPHA:647
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa
Dystrophic toenail, Erosion of oral mucosa, Absent toenail, Nail dystrophy, Oral mucosal blisters... ORPHA:231568
Cowden Syndrome 7
Trichilemmoma, Goiter, Intestinal polyposis, Ductal carcinoma in situ, Hemangioma, Papilloma, Pap... OMIM:616858
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Werner Syndrome
Neoplasm of the oral cavity, Premature graying of hair, White forelock, Melanoma, Renal neoplasm,... ORPHA:902
Pyomyositis
Testicular teratoma, Weight loss ORPHA:764
Craniotelencephalic Dysplasia
Optic atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Microphthalmia, ... ORPHA:1528
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... OMIM:620133
Medulloblastoma
Medulloblastoma OMIM:155255
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... ORPHA:231401
Ovarian Cancer
Ovarian papillary adenocarcinoma, Breast carcinoma, Dysgerminoma OMIM:167000
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Septooptic Dysplasia
Agenesis of corpus callosum, Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Nail dystrophy, Carcinoma OMIM:615225
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Nail dystrophy, Discrete 2 to 5-mm hy... OMIM:131960
Epidermodysplasia Verruciformis
Squamous cell carcinoma, Verrucae ORPHA:302
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Sparse body hair, Nail dystrophy, Oral mucosal blisters, Scarring alope... ORPHA:79402
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Yellow nails, Sparse lateral eyebrow, Actinic keratosis, Nail dystrophy, Oropharyngeal ... OMIM:614564
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Stroke... ORPHA:444463
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Meige Disease
Pleural effusion, Angiosarcoma ORPHA:90186
Turcot Syndrome With Polyposis
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... ORPHA:99818
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Intestinal polyposis, Hepatic steatosis, Multiple lipomas, Lymphoid nodular hy... ORPHA:210548
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Ethanolaminosis
Cardiomegaly OMIM:227150
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Malignan... ORPHA:2302
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness OMIM:616389
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia ORPHA:98827
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Werner Syndrome
Meningioma, Alopecia of scalp, Hypertriglyceridemia, Elevated hemoglobin A1c, Osteosarcoma OMIM:277700
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Neutrophilia, Hereditary
Myelodysplasia, Splenomegaly, Neutrophilia OMIM:162830
Localized Dystrophic Epidermolysis Bullosa, Nails Only
Onychogryposis of fingernail, Dystrophic toenail, Onychogryposis of toenails, Fragile nails, Abse... ORPHA:158676
Common Variable Immunodeficiency
Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Lymphoma, Recurre... ORPHA:1572
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth, Nail dystrophy, Dystrophic fingernails, Scarring alopecia of s... OMIM:619787
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Uterine neoplasm, Intestinal bleeding, Bile duct polyp, Intussuscepti... OMIM:175200
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Nail dystrophy, Squamous cell carcinoma, Abnormal esophagus morphology, Spontaneous eso... OMIM:226600
Thyroid Cancer, Nonmedullary, 4
Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm OMIM:616534
Pontocerebellar Hypoplasia, Type 15
Spastic tetraplegia, Cerebellar hypoplasia, Hydrocephalus, Thrombocytopenia, Hypertonia, Anemia, ... OMIM:619302
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Yellow Nail Syndrome
Biliary tract neoplasm, Yellow nails, Recurrent respiratory infections, Neoplasm, Renal neoplasm,... ORPHA:662
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Rhabdomyosarcoma, Abnormal lung lobation, Vaginal neoplasm, Stomach cancer, M... ORPHA:1052
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased prop... ORPHA:3261
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Bilateral triphalangeal thumbs, Conical tooth, Toe syndactyly, Small nail, Selective tooth agenes... OMIM:124480
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Pachyonychia Congenita
Onychogryposis of fingernail, Alopecia, Natal tooth, Oral leukoplakia, Palmoplantar keratoderma, ... ORPHA:2309
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Dystrophic toenail, Palmoplantar blistering, Abnormal fingernail mo... ORPHA:89838
Hirschsprung Disease
Functional abnormality of the gastrointestinal tract, Neoplasm of the thyroid gland, Intestinal p... ORPHA:388
Revesz Syndrome
Bone marrow hypocellularity, Ridged fingernail, Aplastic anemia, Oral leukoplakia, Fine hair, Nai... OMIM:268130
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
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Dyskeratosis Congenita, Digenic
Abnormality of the dentition, Alopecia, Decreased circulating IgG level, Oral leukoplakia, Decrea... OMIM:620040
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Nail dystrophy, Oral mucosal blisters, Anonychia, Abnormality of skin pigmentation... ORPHA:79411
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Tractional retinal detachment, Epiretinal mem... ORPHA:891
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Isolated Congenital Digital Clubbing
Clubbing of toes, Broad thumb, Clubbing of fingers, Nail dysplasia, Dystrophic fingernails, Broad... ORPHA:217059
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Cerebral cortical atrophy, Chorioretinal coloboma, Cerebellar hypoplasia, Microcep... ORPHA:163937
Neurofibromatosis, Type I
Neurofibroma, Meningioma, Rhabdomyosarcoma, Pheochromocytoma, Plexiform neurofibroma, Astrocytoma... OMIM:162200
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Bone marrow hypocellularity, A... OMIM:614742
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Hypoplasia of the corpus callosum, Optic nerve hypoplasia OMIM:618890
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Pachyonychia Congenita 2
Subungual hyperkeratosis, Dry hair, Natal tooth, Oral leukoplakia, Sparse eyebrow, Nail dystrophy... OMIM:167210
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Microcephaly, Optic nerve hypoplasia OMIM:613638
Dyskeratosis Congenita
Carious teeth, Periodontitis, Hypopigmented skin patches, White hair, Premature graying of hair, ... ORPHA:1775
Neurofibromatosis Type 1
Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Plexiform neurofibroma... ORPHA:636
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges... OMIM:613313
Pontocerebellar Hypoplasia, Type 14
Spastic tetraplegia, Hypoplasia of the pons, Cerebellar hypoplasia, Hydrocephalus, Thrombocytopen... OMIM:619301
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Usher Syndrome, Type Iiib
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy OMIM:614504
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Squamous cell carcinoma, Cutaneous melanoma OMIM:278750
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Myelodysplasia OMIM:185050
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Frontal cortical atrophy, Hypoplasia of the corpus callosum, Optic... ORPHA:228384
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormality of neutrophils, Cerebellar atrophy, Pancytopenia, Abno... ORPHA:2585
Beta-Thalassemia
Cholelithiasis, Skin ulcer, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Pallor, Sp... ORPHA:848
X-Linked Sideroblastic Anemia
Anemia, Pallor, Splenomegaly ORPHA:75563
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma ORPHA:99977
Hereditary Acrokeratotic Poikiloderma
Gingival bleeding, Abnormality of the dentition, Irregular hyperpigmentation, Xerostomia, Hypopig... ORPHA:2907
Nijmegen Breakage Syndrome
Recurrent pneumonia, Anal stenosis, Glioma, Lymphoma, Recurrent infection of the gastrointestinal... OMIM:251260
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Anal atresia, T-cell acute lymphoblastic leukemias OMIM:605724
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hypertrophic ... OMIM:619902
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Cerebellar hypoplasia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Monosomy 9Q22.3
Medulloblastoma, Cardiac fibroma, Nephroblastoma, Ovarian fibroma, Odontogenic keratocysts of the... ORPHA:77301
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Mantle Cell Lymphoma
B-cell lymphoma, Weight loss, Abnormality of the gastrointestinal tract ORPHA:52416
Leishmaniasis
Skin ulcer, Pancytopenia, Leukopenia, Pallor, Splenomegaly, Abnormal macrophage morphology, Incre... ORPHA:507
Rothmund-Thomson Syndrome Type 1
Sparse hair, Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Alopecia totalis, Aplas... ORPHA:221008
Familial Pancreatic Carcinoma
Peritoneal abscess, Intestinal pseudo-obstruction, Colon cancer, Pancreatic adenocarcinoma, Exocr... ORPHA:1333
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... ORPHA:369
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Retinal atrophy, Vitreous hemorrhage, Retinal detachment,... OMIM:312700
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Elevated... OMIM:615688
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Pachyonychia Congenita 1
Nail dystrophy, Palmoplantar hyperkeratosis, Oral leukoplakia, Onychogryposis OMIM:167200
Dyskeratosis Congenita, X-Linked
Carious teeth, Premature graying of hair, Pancytopenia, Cryptorchidism, Sparse eyelashes, Acute m... OMIM:305000
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the scrotum, Uterine neoplasm, Lower limb muscle weakness, Elevated carcinoma antigen... ORPHA:370348
Rothmund-Thomson Syndrome Type 2
Sparse hair, Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Lymphoma, Alopecia tota... ORPHA:221016
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... OMIM:278000
Ovarian Fibrothecoma
Abnormality of the ovary, Pleural effusion, Diffuse leiomyomatosis, Hirsutism, Ovarian fibroma, P... ORPHA:314478
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune h... OMIM:601859
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Tapered finge... OMIM:311895
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Gray Platelet Syndrome
Myelodysplasia, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Fibular Dimelia-Diplopodia Syndrome
Sacrococcygeal teratoma ORPHA:1757
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Congestive heart failure, Visceral angiomatosis, Neoplasm of the thyr... ORPHA:137608
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni... OMIM:603909
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... OMIM:166600
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, B lymphocytopenia, Myelo... OMIM:614172
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Acute leukemia, Cryptorchidism, Testicular seminoma ORPHA:281090
Autoimmune Hepatitis
Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone... ORPHA:2137
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Camptodactyly of finger, Palmar hyperhidrosis, Nail dystrophy, Oral mucosal bliste... OMIM:226650
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Lymphopenia, Verrucae, T lymphocytopenia OMIM:618309
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORP