| Hairy Palms And Soles |
|
Hypermelanotic macule |
OMIM:139650 |
| Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
| Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
| Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
| Dowling-Degos Disease 1 |
|
Progressive reticulate hyperpigmentation |
OMIM:179850 |
| Lentiginosis, Inherited Patterned |
|
Hypermelanotic macule |
OMIM:151001 |
| Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
| Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
| Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
| Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
| Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
| Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
| Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules |
OMIM:615674 |
| Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
| Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
| Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
| Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
| Ovarian Cancer |
|
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma |
OMIM:167000 |
| Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
| 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 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
| Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... |
ORPHA:145 |
| Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter |
OMIM:616534 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Neoplasm of head and neck, Goiter, Breast carcinoma, Abnor... |
ORPHA:97290 |
| Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
| Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphoma, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
| Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Schwannoma, Bladder carcinoma, Hodgkin lymphoma, Breast carcinoma, Ova... |
ORPHA:157798 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
| Cowden-Like syndrome |
|
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma |
OMIM:612359 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Neoplasm of head and neck, Chronic noninfectious lymphadenopathy, A... |
ORPHA:319487 |
| Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
| Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
| Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
| Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... |
OMIM:616415 |
| Kimura Disease |
|
Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
| Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
| Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo |
OMIM:607836 |
| Mast Cell Sarcoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Sarcoma |
ORPHA:66661 |
| Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... |
OMIM:158320 |
| Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
| Muir-Torre Syndrome |
|
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Salivary gland neoplasm, Hematologica... |
ORPHA:587 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Mediastinal lymphadenopathy, Ovarian neoplasm, Neo... |
ORPHA:83469 |
| 46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
| Lynch Syndrome 4 |
|
Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
| Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the ovary, Neoplasm of the oral cavity, Abnormal lymph ... |
ORPHA:543 |
| Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... |
ORPHA:276399 |
| Granulomatous Slack Skin |
|
Lymphoma, Hodgkin lymphoma, Abnormal lymph node morphology |
ORPHA:33111 |
| Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Primary hyperparathyroidism, Lymphadenopathy, Neoplasm of the lu... |
ORPHA:1332 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, Lymph node hypo... |
OMIM:602450 |
| Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
| Meige Disease |
|
Angiosarcoma, Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
| Endometrial Cancer |
|
Endometrial carcinoma |
OMIM:608089 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Lymphoma, Lymphoproliferative disorder, Absent tonsils |
ORPHA:276 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Splenomegaly, Lymphoma, Lymph node hypoplasia |
OMIM:613179 |
| Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia, Epididymitis, Prostatitis |
OMIM:300755 |
