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
persistence of hyaloid vascular system Trp53tm1b(EUCOMM)Hmgu HOM Early adult 1.66×10-06
abnormal retina morphology Trp53tm1b(EUCOMM)Hmgu HOM   Early adult 1.77×10-07
increased startle reflex Trp53tm1b(EUCOMM)Hmgu HOM Early adult 1.47×10-14
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
decreased circulating creatine kinase level Trp53tm1b(EUCOMM)Hmgu HET Early adult 6.06×10-05

Download data as:  TSV  XLS

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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  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 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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.

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Adult LacZ

LacZ Images Wholemount

23 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 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
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Hereditary Breast And Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Primary peritoneal carcinoma, Breast carcinoma, Neoplasm of th... ORPHA:145
Breast Cancer
Breast carcinoma OMIM:114480
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Glioma Susceptibility 1
Astrocytoma, Glioblastoma multiforme, Ependymoma OMIM:137800
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Familial Pancreatic Carcinoma
Peritoneal abscess, Functional intestinal obstruction, Exocrine pancreatic insufficiency, Colon c... ORPHA:1333
Essential Thrombocythemia
Myelodysplasia, Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Nasopharyngeal Carcinoma
Neoplasia of the nasopharynx OMIM:607107
Adrenocortical Carcinoma
Adrenocorticotropic hormone deficiency, Hypokalemia, Hypertrichosis, Adrenocortical carcinoma, Lu... ORPHA:1501
Adrenocortical Carcinoma, Hereditary
Adrenocortical carcinoma OMIM:202300
Papilloma Of Choroid Plexus
Neoplasm, Choroid plexus papilloma ORPHA:2807
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia 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
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias OMIM:247640
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
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
Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy, Optic disc pallor OMIM:613582
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Malignant eosinophil proliferation, Eosinophilia OMIM:131440
Glioma Susceptibility 9
Leukemia, Glioma, Astrocytoma OMIM:616568
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Familial Adenomatous Polyposis 3
Neoplasm of the skin, Bladder neoplasm, Breast carcinoma, Meningioma OMIM:616415
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer OMIM:135290
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
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
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Birt-Hogg-Dube Syndrome
Fibrofolliculoma, Renal neoplasm, Spontaneous pneumothorax, Trichodiscoma, Cutaneous leiomyoma, R... OMIM:135150
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Prostate cancer, Ovarian neoplasm, Germ cell neopla... ORPHA:157798
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Monoclonal immunoglobulin M... OMIM:153600
Drug Metabolism, Poor, Cyp2D6-Related
Neoplasm OMIM:608902
Fibromatosis, Gingival, 1
Gingival fibromatosis OMIM:135300
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
Punctate Palmoplantar Keratoderma Type 1
Hodgkin lymphoma, Renal cell carcinoma, Breast carcinoma, Transitional cell carcinoma of the blad... ORPHA:79501
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormality of the peritoneum ORPHA:2023
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Tumor Predisposition Syndrome
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma OMIM:614327
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Large Congenital Melanocytic Nevus
Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma, Generalized hirsutism, Neoplasm of the skin ORPHA:626
Prostate Cancer/Brain Cancer Susceptibility
Neoplasm of the central nervous system, Prostate cancer OMIM:603688
Schwannomatosis 1
Schwannoma, Meningioma, Spinal cord tumor OMIM:162091
Infantile Myofibromatosis
Gingival fibromatosis, Abnormal hair morphology, Benign neoplasm of the central nervous system, F... ORPHA:2591
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Cheilitis Glandularis
Neoplasm, Squamous cell carcinoma ORPHA:1221
Schwannomatosis 2
Schwannoma, Spinal cord tumor OMIM:615670
Hereditary Breast And Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Primary peritoneal carcinoma, Breast carcinoma, Neoplasm of th... ORPHA:145
Oslam Syndrome
Neoplasm, Osteosarcoma, Anemia OMIM:165660
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Mismatch Repair Cancer Syndrome 1
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... OMIM:276300
Familial Melanoma
Abnormal hair morphology, Neoplasm of the breast, Neoplasm of the stomach, Neoplasm of the pancre... ORPHA:618
Familial Adenomatous Polyposis 4
Thyroid adenoma, Stomach cancer, Papilloma, Astrocytoma OMIM:617100
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Sparse hair, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma OMIM:224750
Breast Cancer
Breast carcinoma OMIM:114480
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Erythroleukemia, Familial, Susceptibility To
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Thrombocytopenia, Acute myeloi... OMIM:133180
Hereditary Gingival Fibromatosis
Gingival fibromatosis ORPHA:2024
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Ovarian cyst, Neoplasm of the rectum, Endometrial car... ORPHA:454840
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Basal cell carcinoma, Ovarian neoplasm, Pilomatrixoma, Pleuropulmonary... ORPHA:276399
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume OMIM:252270
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Testicular Germ Cell Tumor
Embryonal neoplasm, Teratoma, Choriocarcinoma OMIM:273300
Subependymoma
Ovarian neoplasm, Spinal cord tumor, Neoplasm of the liver, Ependymoma, Neoplasm of the breast, S... ORPHA:251639
Ependymoma
Ovarian neoplasm, Spinal cord tumor, Neoplasm of the liver, Ependymoma, Neoplasm of the breast, S... ORPHA:251636
Meningioma, Familial, Susceptibility To
Meningioma OMIM:607174
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Pleuropulmonary Blastoma
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:601200
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Rhabdomyosarcoma, Embryonal, 2
Goiter, Pleuropulmonary blastoma, Multinodular goiter, Nephroblastoma, Ovarian thecoma, Embryonal... OMIM:180295
Fibromatosis, Gingival, With Progressive Deafness
Gingival fibromatosis OMIM:135550
Premature Aging Syndrome, Okamoto Type
Neoplasm, Osteosarcoma, Abnormal hair morphology, Depressed nasal bridge OMIM:601811
Desmoid Tumor
Gastrointestinal hemorrhage, Fibroma, Desmoid tumors, Intestinal polyposis, Malabsorption, Intest... ORPHA:873
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Renal cell carcinoma, Cuta... OMIM:150800
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, Colon cancer, T-cell acute lymphoblastic leukemias OMIM:619096
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Squamous cell carcinoma OMIM:613736
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Carcinoid tumor, Brain neoplas... ORPHA:79140
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Pallor ORPHA:46532
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Sparse hair, Ovarian neoplasm, Alopecia, Aplasia/Hypoplasia of the eyebrow,... ORPHA:50944
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Optic Atrophy 2
Optic atrophy OMIM:311050
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Gonadoblastoma
Gonadoblastoma OMIM:424500
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Testicular Germ Cell Tumor 1
Germ cell neoplasia OMIM:300228
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Alopecia, Squamous cell carcinoma, Multinodular goiter OMIM:618373
Gluteal Muscles, Absence Of
Optic nerve hypoplasia OMIM:231970
Fibromatosis, Gingival, 5
Gingival fibromatosis OMIM:617626
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Abnormality of the peritoneum, Hepatome... ORPHA:83469
Dyskeratosis Congenita, Autosomal Dominant 1
Oral leukoplakia, Carious teeth, Nail pits, Reticular hyperpigmentation, Premature graying of hai... OMIM:127550
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Oslam Syndrome
Abnormality of neutrophils, Osteosarcoma, Increased mean corpuscular volume ORPHA:2760
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Optic Atrophy 5
Optic atrophy OMIM:610708
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, T lymphocytopenia, Recurrent sinusitis, Pneumonia, Recurrent respi... ORPHA:217390
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... ORPHA:220460
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Glioma Susceptibility 3
Medulloblastoma, Glioblastoma multiforme, Astrocytoma OMIM:613029
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic ner... OMIM:165550
Mismatch Repair Cancer Syndrome 4
Non-Hodgkin lymphoma, Glioblastoma multiforme, Adenomatous colonic polyposis, Astrocytoma, Colon ... OMIM:619101
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma ORPHA:454
Peutz-Jeghers Syndrome
Nasal polyposis, Neoplasm, Breast carcinoma, Anemia, Gastrointestinal infarctions, Abnormality of... ORPHA:2869
Polymerase Proofreading-Related Adenomatous Polyposis
Adenocarcinoma of the colon, Neoplasm of the rectum, Endometrial carcinoma, Colorectal polyposis,... ORPHA:447877
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Neoplasm of head and neck, Neurofibromas, Carcinoma, Giant cell t... ORPHA:352540
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Squamous cell carcinoma, Melanoma ORPHA:90342
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of t... ORPHA:137902
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Glioma Susceptibility 1
Astrocytoma, Glioblastoma multiforme, Ependymoma OMIM:137800
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Juvenile colonic polyposis, Colon ... OMIM:610069
Dyskeratosis Congenita, Autosomal Dominant 3
Oral leukoplakia, Cryptorchidism, Premature graying of hair, Pulmonary fibrosis, Cerebellar hypop... OMIM:613990
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Milroy Disease
Hydrocele testis, Angiosarcoma, Neoplasm of the skin ORPHA:79452
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hyperparathyroidism, Hamartoma, Hurthle cell thyroid adenoma, Papillary re... OMIM:145001
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, Retinal detachment OMIM:615113
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Hypoplasia of the brainstem, Cerebellar hypoplasia, Retinal dysplasia, Microphthalmia, Microcephaly OMIM:615771
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Maffucci Syndrome
Neoplasm of the parathyroid gland, Goiter, Chondrosarcoma, Ovarian neoplasm, Dysphagia, Hemangiom... ORPHA:163634
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Squamous cell carcinoma, Nail dystrophy OMIM:613988
Dyskeratosis Congenita, Autosomal Recessive 1
Oral leukoplakia, Carious teeth, Small nail, Pulmonary fibrosis, Pterygium of nails, Esophageal s... OMIM:224230
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Premature graying of hair, Fibrosarcoma, Histiocytoma, Osteosarcoma, Skeletal muscle atrophy, Myo... OMIM:112250
Retinoblastoma
Retinoblastoma, Glioma, Lymphoma, Leiomyosarcoma, Osteosarcoma, Rhabdomyosarcoma, Cleft palate, L... ORPHA:790
Dyskeratosis Congenita, Autosomal Dominant 6
Oral leukoplakia, Esophageal stenosis, Cerebellar hypoplasia, Abnormality of the dentition, Pancy... OMIM:616553
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Werner Syndrome
Meningioma, Osteosarcoma, Abnormal hair morphology OMIM:277700
Mast Cell Sarcoma
Hepatomegaly, Sarcoma, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Carney Triad
Gastrointestinal stroma tumor, Adrenocortical adenoma, Gastrointestinal hemorrhage, Pheochromocyt... ORPHA:139411
N Syndrome
Neoplasm, Cryptorchidism, Leukemia OMIM:310465
Exostoses, Multiple, Type I
Scapular exostoses, Rib exostoses, Chondrosarcoma, Pelvic bone exostoses OMIM:133700
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Neutropenia, Burkitt lymphoma, Pancytopenia, Lymphadenopathy, Reduced natural kill... OMIM:308240
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Exostoses, Multiple, Type Ii
Scapular exostoses, Rib exostoses, Chondrosarcoma, Pelvic bone exostoses OMIM:133701
Rhabdoid Tumor Predisposition Syndrome 1
Medulloblastoma, Choroid plexus carcinoma OMIM:609322
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Ollier Disease
Hemangioma, Chondrosarcoma, Multiple enchondromatosis, Neoplasm, Sarcoma, Anemia, Visceral angiom... ORPHA:296
Gcgr-Related Hyperglucagonemia
Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis ORPHA:438274
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Dyskeratosis Congenita, Autosomal Dominant 2
Premature graying of hair, Pulmonary fibrosis, Cerebellar hypoplasia, Abnormality of the dentitio... OMIM:613989
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Glaucoma-Related Pigment Dispersion Syndrome
Optic atrophy OMIM:600510
Paraneoplastic Pemphigus
Thymoma, Sarcoma, B-cell lymphoma ORPHA:63455
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Esophageal neoplasm, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Papil... ORPHA:523
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Teratoma, Pineal
Teratoma OMIM:273120
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Bazex Syndrome
Yellow nails, Liposarcoma, Neoplasm, Anemia, Lung adenocarcinoma, Nail dystrophy ORPHA:166113
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Familial Colorectal Cancer Type X
Basal cell carcinoma, Gastrointestinal hemorrhage, Benign neoplasm of the central nervous system,... ORPHA:440437
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma, Squamous cell carcinoma ORPHA:542592
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Cerebellar hypoplasia ORPHA:65288
Ichthyosis, Hystrix-Like, With Deafness
Absent eyelashes, Scarring alopecia of scalp, Sparse and thin eyebrow, Squamous cell carcinoma, S... OMIM:602540
Hereditary Mixed Polyposis Syndrome
Rectal polyposis, Neoplasm of the gastrointestinal tract, Prostate cancer, Adenocarcinoma of the ... ORPHA:157794
Schnitzler Syndrome
Skin rash, Leukocytosis, Lymphoma, Hepatomegaly, Anemia, Splenomegaly, Vasculitis, Lymphadenopath... ORPHA:37748
Familial Adenomatous Polyposis
Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, Fibroma, Neop... ORPHA:733
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
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
Gastric Cancer
Stomach cancer OMIM:613659
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Pallor, Splenomegaly ORPHA:228312
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Pulmonary infiltrates, Myeloproliferative disorder, Eosinophilia OMIM:607685
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Thrombocytopenia, ... ORPHA:69077
Seizures, Cortical Blindness, And Microcephaly Syndrome
Hypoplasia of the corpus callosum, Optic atrophy, Microcephaly OMIM:616632
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Abn... ORPHA:79397
Ganglioneuroma
Functional intestinal obstruction, Ganglioneuroma, Gastrointestinal hemorrhage, Neoplasm of the a... ORPHA:251992
Lynch Syndrome
Basal cell carcinoma, Ovarian neoplasm, Colon cancer, Benign neoplasm of the central nervous syst... ORPHA:144
Craniotelencephalic Dysplasia
Arrhinencephaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Microphthalmia, Agenesis of corpu... OMIM:218670
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Liposarcoma
Sarcoma ORPHA:69078
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Ataxia, Ankle clonus, Pancytopenia, Thrombocytopenia,... OMIM:159550
Budd-Chiari Syndrome
Cirrhosis, Hepatocellular carcinoma, Budd-Chiari syndrome OMIM:600880
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myeloid leukemia OMIM:616604
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poiki... OMIM:615234
Peripheral Cone Dystrophy
Peripheral retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor OMIM:609021
Retinoblastoma
Retinoblastoma, Lymphoma, Osteosarcoma, Pinealoma, Leukemia, Ewing sarcoma OMIM:180200
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Colorectal polyposis, Large intestinal polyposis, ... ORPHA:247798
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Pulmonary fibrosis, Emphysema, Hypophosphatemic rickets, Lung adenocarcinoma OMIM:618913
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
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Lymphoproliferative disorder, Monocytosis, Hemolytic anemia, Autoimmune thrombocyt... OMIM:614470
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Optic nerve hypoplasia, Agenesis of corpus callosum ORPHA:250972
Nijmegen Breakage Syndrome
B-cell lymphoma, Neoplasm, Skeletal muscle atrophy, Acute leukemia, Depressed nasal bridge, Low a... ORPHA:647
Gastrointestinal Stromal Tumor
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestinal hemorrhag... ORPHA:44890
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Pilomatrixoma
Pilomatrixoma OMIM:132600
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Microcephaly, Bone spicule pigmentatio... OMIM:618889
Nijmegen Breakage Syndrome
Medulloblastoma, Recurrent pneumonia, Recurrent bronchitis, T lymphocytopenia, Bronchiectasis, An... OMIM:251260
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Anemia, Pallor, Eosinophilia ORPHA:517
Epidermal Nevus Syndrome
Weakness of long finger extensor muscles, Lipoma, Spinal cord tumor, Rhabdomyosarcoma ORPHA:35125
Primary Erythromelalgia
Leukemia, Recurrent respiratory infections ORPHA:90026
Cronkhite-Canada Syndrome
Aplasia/Hypoplasia of the eyebrow, Gastrointestinal carcinoma, Neoplasm, Furrowed tongue, Hepatom... ORPHA:2930
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Myeloid leukemia, Cirrhosis, Pulmonary fibrosis, Pancytopenia, Aplastic anemia, Leukemia, Bone ma... OMIM:614743
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Nail dystrophy, Carcinoma OMIM:615225
Revesz Syndrome
Oral leukoplakia, Nail pits, Sparse hair, Fine, reticulate skin pigmentation, Cerebellar hypoplas... OMIM:268130
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Oral Submucous Fibrosis
Flexion contracture, Oropharyngeal squamous cell carcinoma, Abnormality of the pharynx ORPHA:357154
Microcephaly 20, Primary, Autosomal Recessive
Microcephaly, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar hypoplasia, Optic nerve hypoplasia, Microphthalmia, Retinal detachment, Hypoplasia of ... OMIM:615181
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Hoyeraal-Hreidarsson Syndrome
Oral leukoplakia, Generalized hypopigmentation of hair, Premature graying of hair, Cerebellar hyp... ORPHA:3322
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Lymphedema, Primary, With Myelodysplasia
Pancytopenia, Myelodysplasia, Leukemia OMIM:614038
Carcinoma Of Esophagus
Dysphagia, Esophageal neoplasm, Gastroesophageal reflux, Weight loss, Abnormal intestine morpholo... ORPHA:70482
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Abnormality of the dentit... ORPHA:79399
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Hereditary nonpolyposis colorectal carcinoma OMIM:613244
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Dysphagia, Tracheomalacia... ORPHA:60032
Common Variable Immunodeficiency
Bronchiectasis, Pneumonia, Otitis media, Lymphadenopathy, Autoimmune thrombocytopenia, Anal atres... ORPHA:1572
Epidermodysplasia Verruciformis
Verrucae, Squamous cell carcinoma ORPHA:302
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Anemia, Eosinophilia, Myocardial eosinophilic infiltration OMIM:131400
Meige Disease
Pleural effusion, Laryngeal edema, Angiosarcoma ORPHA:90186
Central Retinal Vein Occlusion
Pigmentary retinopathy, Papilledema, Cystoid macular edema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa
Absent toenail, Absent fingernail, Erosion of oral mucosa, Recurrent loss of toenails and fingern... ORPHA:231568
3-Methylglutaconic Aciduria, Type Vii
Abnormality of extrapyramidal motor function, Growth delay, Abnormal pyramidal sign, Neutropenia,... OMIM:616271
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Peripheral vitreous opacities,... OMIM:305390
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, A... ORPHA:231401
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Absent eyelashes, Sparse hair, Hypothyroidism, Absent eyebrow, Thin nail, Cafe... OMIM:618625
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Myelodysplasia, Monocytosis, Lymphoma, Acute myeloid leukemia, Leukopenia, Refractory anemia OMIM:616871
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Agenesis of corpus callosum OMIM:182230
Pyomyositis
Weight loss, Testicular teratoma ORPHA:764
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Unclassified Myelodysplastic Syndrome
Leukocytosis, Acute myeloid leukemia, Myelodysplasia, Multiple lineage myelodysplasia ORPHA:98827
Ovarian Cancer
Ovarian papillary adenocarcinoma, Dysgerminoma, Breast carcinoma OMIM:167000
Peutz-Jeghers Syndrome
Iron deficiency anemia, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Intestinal blee... OMIM:175200
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Chorioretinal atrophy, Retinal pigment epithelial atrophy, Periphera... OMIM:143200
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Camptodactyly of finger, Carious teeth, Palmar hyperhidrosis, Hypodontia, Nail dysplasia, Oral mu... OMIM:226650
Immunodeficiency 21
Myeloid leukemia, Myelodysplasia, Monocytopenia, Abnormal natural killer cell morphology, Lymphop... OMIM:614172
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormality of skin pigmentation, Anonychia, Palmoplantar keratoderma, Scarrin... ORPHA:79402
Medulloblastoma
Medulloblastoma OMIM:155255
Craniotelencephalic Dysplasia
Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microphthalmia, Microcephaly, Opti... ORPHA:1528
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:609923
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type
Agenesis of permanent teeth, Abnormality of dental morphology, Irregular dentition, Sparse scalp ... OMIM:602401
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Dyskeratosis Congenita, Autosomal Recessive 2
Reticulated skin pigmentation, Thrombocytopenia, Nail dysplasia, Pancytopenia, Testicular atrophy... OMIM:613987
Msh3-Related Attenuated Familial Adenomatous Polyposis
Multiple gastric polyps, Colon cancer, Ovarian dermoid cyst, Neoplasm of the rectum, Uterine leio... ORPHA:480536
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Acute monocytic leukemia, Thrombocytosis, Neutropenia, A... OMIM:202700
Mosaic Variegated Aneuploidy Syndrome
Abnormal lung lobation, Myelodysplasia, Muscular dystrophy, Neoplasm, Vaginal neoplasm, Duodenal ... ORPHA:1052
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic ... ORPHA:444463
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges
Shortening of all distal phalanges of the fingers, Prominent nasal bridge, Short philtrum, Anonyc... OMIM:106995
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Turcot Syndrome With Polyposis
Adenomatous colonic polyposis, Neoplasm of the central nervous system, Pilomatrixoma, Cerebellar ... ORPHA:99818
Dyskeratosis Congenita
Carious teeth, Premature graying of hair, Anemia, Aplastic/hypoplastic toenail, Hypermelanotic ma... ORPHA:1775
Localized Dystrophic Epidermolysis Bullosa, Nails Only
Absent toenail, Onychogryposis of fingernail, Onychogryposis, Dystrophic toenail, Dystrophic fing... ORPHA:158676
Neurofibromatosis, Type I
Lisch nodules, Neurofibromas, Plexiform neurofibroma, Pheochromocytoma, Optic nerve glioma, Menin... OMIM:162200
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Absent toenail, Palmoplantar hyperkeratosis, Palmoplantar blistering, Ridged nail, Hyperpigmentat... ORPHA:89838
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Ethanolaminosis
Cardiomegaly OMIM:227150
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Myelodysplasia, Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Incr... OMIM:619041
Yellow Nail Syndrome
Biliary tract neoplasm, Renal neoplasm, Yellow nails, Pleuritis, Bronchiectasis, Neoplasm, Sarcom... ORPHA:662
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Xeroderma Pigmentosum, Variant Type
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma OMIM:278750
Wt Limb-Blood Syndrome
Cryptorchidism, Joint contracture of the 5th finger, Thrombocytopenia, Pancytopenia, Hypoplastic ... OMIM:194350
Dyskeratosis Congenita, X-Linked
Cryptorchidism, Carious teeth, Premature graying of hair, Pterygium of nails, Ridged nail, Pancyt... OMIM:305000
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Myelodysplasia, Cirrhosis, Reticular pattern on pulmonary HRCT, Pulmonary fibro... OMIM:614742
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Dysphagia, Flexion contracture, Abnormal esophagus morphology... OMIM:226600
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum ... ORPHA:3261
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Panacinar emphysema, Chronic ... OMIM:613490
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Punctate palmoplantar hyperkeratosis,... OMIM:131960
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental enamel morphology, Reticular hyperpigmentation, Diffuse palmoplantar hyperkeratos... ORPHA:69087
Hereditary Acrokeratotic Poikiloderma
Open bite, Irregular hyperpigmentation, Narrow mouth, Abnormality of the metacarpal bones, Xerost... ORPHA:2907
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia OMIM:615879
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Inflammation of the large intestine, Hemophagocytos... OMIM:300635
Pachyonychia Congenita
Oral leukoplakia, Onychogryposis of fingernail, Palmoplantar hyperhidrosis, Palmoplantar blisteri... ORPHA:2309
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Muir-Torre Syndrome
Laryngeal carcinoma, Renal neoplasm, Salivary gland neoplasm, Endometrial carcinoma, Neoplasm of ... ORPHA:587
Familial Pancreatic Carcinoma
Peritoneal abscess, Functional intestinal obstruction, Exocrine pancreatic insufficiency, Colon c... ORPHA:1333
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Asbestos Intoxication
Subpleural honeycombing, Ground-glass opacification, Abnormal sputum, Interlobular septal thicken... ORPHA:2302
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Breast carcinoma, Ovarian carcinoma OMIM:613399
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Carious teeth, Sparse hair, Cerebellar hypoplasia, Alopecia, Na... OMIM:616353
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Cerebellar hypoplasia, Cerebral cortical atrophy, Optic nerve hypoplasia,... ORPHA:163937
Carney Complex
Elevated circulating growth hormone concentration, Osteochondroma, Hirsutism, Cardiac myxoma, Bro... ORPHA:1359
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of skin pigmentation, Carious teeth, Anonychia, Abnormality of the subungual region, ... ORPHA:79411
Chromosomal Instability With Tissue-Specific Radiosensitivity
Neoplasm, Abnormality of chromosome stability OMIM:215510
Hirschsprung Disease
Neoplasm of the thyroid gland, Aganglionic megacolon, Functional abnormality of the gastrointesti... ORPHA:388
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Rothmund-Thomson Syndrome Type 1
Basal cell carcinoma, Myelodysplasia, Cryptorchidism, Premature ovarian insufficiency, Sparse hai... ORPHA:221008
Rothmund-Thomson Syndrome Type 2
Cryptorchidism, Neutropenia, Alopecia totalis, Sparse or absent eyelashes, Anemia, High palate, M... ORPHA:221016
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Microphthalmia ORPHA:1574
Storage Pool Platelet Disease
Myelodysplasia, Decreased mean platelet volume, Acute leukemia OMIM:185050
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Leukemia, Malabsorption, Cutaneous mastocytosis ORPHA:79456
Werner Syndrome
Ovarian neoplasm, Premature graying of hair, Neoplasm, Breast carcinoma, Skeletal muscle atrophy,... ORPHA:902
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Anal atresia, T-cell acute lymphoblastic leukemias OMIM:605724
Thrombocytopenia 2
Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Cowden Syndrome 7
Hemangioma, Ductal carcinoma in situ, Goiter, Intestinal polyposis, Breast carcinoma, Trichilemmo... OMIM:616858
Optic Atrophy 6
Optic atrophy OMIM:258500
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Myelodysplasia, Thrombocytosis, Abnormal erythrocyte morphology, Acute myel... ORPHA:86841
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Anemia, Splenom... OMIM:613313
Chromosome 19P13.13 Deletion Syndrome
Microcephaly, Optic atrophy, Optic nerve hypoplasia OMIM:613638
Retinitis Pigmentosa 11
Macular atrophy, Perifoveal ring of hyperautofluorescence, Macular edema, Bone spicule pigmentati... OMIM:600138
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Optic nerve hypoplasia OMIM:618890
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Baller-Gerold Syndrome
Short nose, Lymphoma, Anteriorly placed anus, Anal atresia, Osteosarcoma, Cleft palate, High pala... ORPHA:1225
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia, Verrucae, Squamous cell carcinoma of the skin OMIM:618309
5Q14.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Agenesis of cerebellar vermis, Optic nerve hypoplasia, Frontal... ORPHA:228384
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Monosomy 9Q22.3
Basal cell carcinoma, Medulloblastoma, Cardiac fibroma, Short nose, Odontogenic keratocysts of th... ORPHA:77301
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Macular scar, Abnormal chorioretinal morphology, Vitriti... ORPHA:179
Pulmonary Fibrosis, Idiopathic
Cirrhosis, Dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Increased circulating antibody l... OMIM:178500
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Hamartoma, Ovarian neoplasm, Neoplasm of the thyroid gland, Neoplasm of the breast, Congestive he... ORPHA:137608
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Ataxia-Pancytopenia Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal platelet function, Abnormality of neutrophils, Abn... ORPHA:2585
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Ovarian Fibrothecoma
Peritonitis, Abnormality of the ovary, Pleural effusion, Fibrosarcoma, Hirsutism, Diffuse leiomyo... ORPHA:314478
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Small nail, Toe syndactyly, Anonychia, Selective tooth agenesis, Conical tooth, Triphalangeal thu... OMIM:124480
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Leukemia, Nephroblastoma, Meningioma OMIM:602501
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Specific Granule Deficiency 2
Absent neutrophil specific granules, Neutropenia, Sandal gap, Thrombocytopenia, Anemia, Brachydac... OMIM:617475
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Weight loss, B-cell lymphoma ORPHA:52416
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Ceroid Lipofuscinosis, Neuronal, 6
Retinal degeneration OMIM:601780
Nk-Cell Enteropathy
Lymphoproliferative disorder, Gastric ulcer, Increased T cell count, Hematochezia, Gastroesophage... ORPHA:263665
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Epidermolysis Bullosa Simplex, Generalized
Nail dysplasia, Oral mucosal blisters, Nail dystrophy, Palmoplantar hyperkeratosis OMIM:131900
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Macular edema, Retinal detachm... ORPHA:209943
X-Linked Sideroblastic Anemia