Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
phosphatase and tensin homolog
Synonyms:
MMAC1,  TEP1,  2310035O07Rik,  A130070J02Rik,  B430203M17Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Pten 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 Pten by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Breast And Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Primary peritoneal carcinoma, Breast carcinoma, Neoplasm of th... ORPHA:145
Meningioma, Familial, Susceptibility To
Meningioma OMIM:607174
Cowden Syndrome
Adenoma sebaceum, Neoplasm, Colorectal polyposis, Conjunctival hamartoma, Breast carcinoma, High ... ORPHA:201
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Carcinoma, Thyroiditis, Lymphopenia,... OMIM:158350
Prostate Cancer
Prostate cancer OMIM:176807
Lhermitte-Duclos Disease
Enlarged cerebellum, Polymicrogyria, Ataxia ORPHA:65285
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Meningioma, Neoplasm of the breast, Hashimoto thyroiditis, Uterine neoplasm, Neopl... ORPHA:109
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Hamartoma, Ovarian neoplasm, Neoplasm of the thyroid gland, Neoplasm of the breast, Visceral angi... ORPHA:137608
Juvenile Polyposis Of Infancy
Hemangioma, Hamartomatous polyposis, Intestinal bleeding, Subcutaneous lipoma, Gastrointestinal h... ORPHA:79076
Proteus-Like Syndrome
Hemangioma, Subcutaneous lipoma, Polycystic ovaries, Abnormality of the parathyroid gland, Spleno... ORPHA:2969
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebral dysmyelination, Abnormal cerebellum ... ORPHA:101070
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Proteus Syndrome
Neoplasm of the central nervous system, Ovarian neoplasm, Long penis, Thymus hyperplasia, Viscera... ORPHA:744

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Chemodectoma, Intraabdominal, With Cutaneous Angiolipomas
Retroperitoneal chemodectomas, Chemodectoma, Cutaneous angiolipomas OMIM:118350
Paragangliomas 7
Pheochromocytoma, Paraganglioma OMIM:618475
Paraganglioma And Gastric Stromal Sarcoma
Neoplasm of the gastrointestinal tract, Paraganglioma OMIM:606864
Paragangliomas 5
Paraganglioma OMIM:614165
Carcinoid Tumors, Intestinal
Intestinal carcinoid OMIM:114900
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608631
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Schwannomatosis 2
Schwannoma, Spinal cord tumor OMIM:615670
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
Pheochromocytoma, Carcinoid tumor, Neurofibromas OMIM:162240
Drug Metabolism, Poor, Cyp2D6-Related
Neoplasm OMIM:608902
Adamantinoma Of Long Bones
Neoplasm OMIM:102660
Cancer, Familial, With In Vitro Radioresistance
Neoplasm OMIM:114450
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Neoplasm OMIM:132800
Nasopharyngeal Carcinoma, Susceptibility To, 2
Neoplasm OMIM:161550
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Ovarian cyst, Non-Hodgkin lymphoma, Basal cell carcinoma, Neoplasm of the rectum, Endometrial car... ORPHA:454840
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Muir-Torre Syndrome
Laryngeal carcinoma, Renal neoplasm, Salivary gland neoplasm, Endometrial carcinoma, Neoplasm of ... ORPHA:587
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Schwannomatosis 1
Schwannoma, Meningioma, Spinal cord tumor OMIM:162091
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Hereditary Mixed Polyposis Syndrome
Rectal polyposis, Neoplasm of the gastrointestinal tract, Prostate cancer, Adenocarcinoma of the ... ORPHA:157794
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Prostate cancer, Ovarian neoplasm, Germ cell neopla... ORPHA:157798
Polymerase Proofreading-Related Adenomatous Polyposis
Adenocarcinoma of the colon, Neoplasm of the rectum, Endometrial carcinoma, Colorectal polyposis,... ORPHA:447877
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Autism
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:209850
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300496
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300495
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608636
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Endometrial carcinoma, Ovarian neoplasm, Hereditary nonpolyposis colorectal carcinoma OMIM:614337
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
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
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Neoplasm of head and neck, Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnorma... ORPHA:97290
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer OMIM:135290
Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma OMIM:614350
Erythroleukemia, Familial, Susceptibility To
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Thrombocytopenia, Acute myeloi... OMIM:133180
Glioma Susceptibility 9
Leukemia, Glioma, Astrocytoma OMIM:616568
Pten Hamartoma Tumor Syndrome
Hemangioma, Ganglioneuroma, Colon cancer, Multinodular goiter, Endometrial carcinoma, Neoplasm, R... ORPHA:306498
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Monoclonal immunoglobulin M... OMIM:153600
N Syndrome
Neoplasm, Cryptorchidism, Leukemia, Hypospadias OMIM:310465
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Familial Papillary Or Follicular Thyroid Carcinoma
Neoplasm of head and neck, Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Papilla... ORPHA:319487
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Esophageal neoplasm, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Papil... ORPHA:523
Cowden syndrome 3
Neoplasm of the thyroid gland, Uterine leiomyoma, Renal cell carcinoma OMIM:615106
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions, Stereotypy OMIM:606053
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Malignant eosinophil proliferation, Eosinophilia OMIM:131440
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias OMIM:247640
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Hereditary Breast And Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Primary peritoneal carcinoma, Breast carcinoma, Neoplasm of th... ORPHA:145
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, Colon cancer, T-cell acute lymphoblastic leukemias OMIM:619096
Familial Adenomatous Polyposis 4
Thyroid adenoma, Stomach cancer, Papilloma, Astrocytoma OMIM:617100
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Cortical dysplasia, Focal cortical dysplasia type II, Hemimegalencephaly, Focal whi... OMIM:607341
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Paragangliomas 3
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Neoplasm, Elevated circulating catechola... OMIM:605373
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Lymphoproliferative disorder, Monocytosis, Hemolytic anemia, Autoimmune thrombocyt... OMIM:614470
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Paragangliomas 1
Extraadrenal pheochromocytoma, Vagal paraganglioma, Adrenal pheochromocytoma, Elevated circulatin... OMIM:168000
Rhabdomyosarcoma, Embryonal, 2
Goiter, Multinodular goiter, Pleuropulmonary blastoma, Nephroblastoma, Ovarian thecoma, Thyroid n... OMIM:180295
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Paragangliomas 2
Vagal paraganglioma, Neoplasm, Chemodectoma, Glomus jugular tumor, Glomus tympanicum paraganglioma OMIM:601650
Mismatch Repair Cancer Syndrome 4
Non-Hodgkin lymphoma, Glioblastoma multiforme, Adenomatous colonic polyposis, Astrocytoma, Colon ... OMIM:619101
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... ORPHA:220460
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Renal cell carcinoma, Cuta... OMIM:150800
Paragangliomas 4
Gastrointestinal stroma tumor, Extraadrenal pheochromocytoma, Neuroblastoma, Adrenal pheochromocy... OMIM:115310
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Msh3-Related Attenuated Familial Adenomatous Polyposis
Multiple gastric polyps, Colon cancer, Ovarian dermoid cyst, Neoplasm of the rectum, Uterine leio... ORPHA:480536
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Meningioma, Familial, Susceptibility To
Meningioma OMIM:607174
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Chronic noninfectious lymphade... ORPHA:79140
Punctate Palmoplantar Keratoderma Type 1
Hodgkin lymphoma, Renal cell carcinoma, Breast carcinoma, Transitional cell carcinoma of the blad... ORPHA:79501
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Lymphadenopathy ORPHA:99977
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, B-cell lymphoma, Lymphadenopathy, Splenomegaly ORPHA:52416
Cowden Syndrome
Adenoma sebaceum, Neoplasm, Colorectal polyposis, Conjunctival hamartoma, Breast carcinoma, High ... ORPHA:201
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Juvenile colonic polyposis, Colon ... OMIM:610069
Peutz-Jeghers Syndrome
Neoplasm, Breast carcinoma, Anemia, Gastrointestinal infarctions, Abnormality of the gastrointest... ORPHA:2869
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Myelodysplasia, Monocytosis, Lymphoma, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bon... OMIM:616871
Testicular Germ Cell Tumor
Embryonal neoplasm, Teratoma, Azoospermia, Choriocarcinoma OMIM:273300
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pheochromocytoma, Cardiac myxoma, Thyroid foll... OMIM:160980
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, A... ORPHA:231401
Unclassified Myelodysplastic Syndrome
Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple lineage myelodysplasia, Bone marro... ORPHA:98827
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume OMIM:252270
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Wt Limb-Blood Syndrome
Cryptorchidism, Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Myeloid leukemia, Premature graying of hair, Pancytopenia, Aplastic anemia, Leukemia, Bone marrow... OMIM:614743
Medullary Thyroid Carcinoma
Elevated calcitonin, Pheochromocytoma, Neoplasm of the skeletal system, Primary hyperparathyroidi... ORPHA:1332
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Breast carcinoma, Ovarian carcinoma OMIM:613399
Lynch Syndrome I
Colon cancer OMIM:120435
Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Maffucci Syndrome
Neoplasm of the parathyroid gland, Goiter, Chondrosarcoma, Ovarian neoplasm, Dysphagia, Hemangiom... ORPHA:163634
Primary Erythromelalgia
Leukemia ORPHA:90026
Mental Retardation, Autosomal Recessive 58
Aggressive behavior, Self-injurious behavior, Spastic diplegia, Stereotypy, Choreoathetosis OMIM:617270
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Neoplasm, Furrowed tongue, Hepatomegaly, Stomach cancer, Intestinal p... ORPHA:2930
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Lymphedema, Primary, With Myelodysplasia
Pancytopenia, Myelodysplasia, Leukemia OMIM:614038
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Myelodysplasia, Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Incr... OMIM:619041
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Ovarian Cancer
Ovarian papillary adenocarcinoma, Dysgerminoma, Breast carcinoma OMIM:167000
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Macroorchidism, Abnormality of female external genitalia, Breast carcinoma... ORPHA:90790
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior OMIM:618221
Birt-Hogg-Dube Syndrome
Fibrofolliculoma, Renal neoplasm, Trichodiscoma, Cutaneous leiomyoma, Renal cell carcinoma, Multi... OMIM:135150
Gonadoblastoma
Gonadoblastoma OMIM:424500
Progressive Non-Fluent Aphasia
Astrocytosis, Temporal cortical atrophy, Abnormal cerebral white matter morphology, Abnormal lowe... ORPHA:100070
Amed Syndrome, Digenic
Myelodysplasia, Hypoplasia of the uterus, Thrombocytopenia, Acute myeloid leukemia, Anemia, Leuko... OMIM:619151
Immunodeficiency 21
Myeloid leukemia, Myelodysplasia, Monocytopenia, Abnormal natural killer cell morphology, Lymphop... OMIM:614172
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Myelodysplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marro... ORPHA:86841
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Hereditary nonpolyposis colorectal carcinoma OMIM:613244
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Thyroid carcinoma, Goiter, Increased T3/T4 ratio OMIM:274700
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Ganglioneuroma
Functional intestinal obstruction, Ganglioneuroma, Gastrointestinal hemorrhage, Neoplasm of the a... ORPHA:251992
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Anal atresia, Bone marrow hypocellularity, T-cell acute lymphoblastic leu... OMIM:605724
Teratoma, Pineal
Abnormal abdomen morphology, Teratoma OMIM:273120
Desmoid Tumor
Gastrointestinal hemorrhage, Fibroma, Desmoid tumors, Intestinal polyposis, Malabsorption, Intest... ORPHA:873
Thyroid Lymphoma
Goiter, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Lymphoma, Hyperthyroidism, Lymphadenopathy ORPHA:97285
Cowden Syndrome 7
Hemangioma, Ductal carcinoma in situ, Goiter, Hashimoto thyroiditis, Intestinal polyposis, Breast... OMIM:616858
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Acute monocytic leukemia, Thrombocytosis, Neutropenia, A... OMIM:202700
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Abnormal stomach morphology, Testicular seminoma, Hypogonadism, Acute leukemia ORPHA:281090
Mismatch Repair Cancer Syndrome 1
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... OMIM:276300
Peutz-Jeghers Syndrome
Iron deficiency anemia, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Intestinal blee... OMIM:175200
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Alpha-Heavy Chain Disease
Lymphoma, Hepatomegaly, Ascites, Anemia, Splenomegaly, Abnormality of the small intestine, Malabs... ORPHA:100025
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Acquired Idiopathic Sideroblastic Anemia
Myelodysplasia, Hypochromic anemia, Thrombocytosis, Leukocytosis, Refractory anemia with ringed s... ORPHA:75564
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Cerebral atrophy, Ataxia, Hyperintensity of cerebral white matter on MRI, ... ORPHA:204
Familial Adenomatous Polyposis
Thyroiditis, Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, ... ORPHA:733
Testicular Germ Cell Tumor 1
Germ cell neoplasia OMIM:300228
Mast Cell Sarcoma
Hepatomegaly, Sarcoma, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Lynch Syndrome
Basal cell carcinoma, Ovarian neoplasm, Colon cancer, Benign neoplasm of the central nervous syst... ORPHA:144
Carcinoma Of Esophagus
Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Abnormal intestine morphology, Barrett e... ORPHA:70482
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis, Cerebral atrophy, Degeneration of anterior horn cells OMIM:600333
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Endometrial carcinoma, Thick eyebrow, Breast carcinoma, High, narrow palate, Melanoma ORPHA:457212
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Basal cell carcinoma, Ovarian neoplasm, Pilomatrixoma, Pleuropulmonary... ORPHA:276399
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis, Basal ganglia cysts, Atrophy/Degeneration involving the caud... ORPHA:225154
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
Hsd10 Mitochondrial Disease
Progressive neurologic deterioration, Aggressive behavior, Cerebral cortical atrophy, Abnormal mi... OMIM:300438
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancyt... ORPHA:2585
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Gastroesophageal reflux, Barrett esophagus, Lymphadenopathy ORPHA:99976
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial complex IV, Depressed nasal b... OMIM:618378
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Impaired social interactions, Self-injurious behavior, Hyperkinetic ... ORPHA:397933
Von Hippel-Lindau Syndrome
Pulmonary capillary hemangiomatosis, Retinal capillary hemangioma, Pheochromocytoma, Pancreatic c... OMIM:193300
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Alopecia, Multinodular goiter, Squamous cell carcinoma OMIM:618373
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Colorectal polyposis, Large intestinal polyposis, ... ORPHA:247798
Thyroid Cancer, Nonmedullary, 4
Non-medullary thyroid carcinoma, Goiter OMIM:616534
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Diffuse Cutaneous Mastocytosis
Leukemia, Malabsorption, Gastrointestinal hemorrhage, Cutaneous mastocytosis ORPHA:79456
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Sparse hair, Ovarian neoplasm, Alopecia, Aplasia/Hypoplasia of the eyebrow,... ORPHA:50944
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Carcinoma, Thyroiditis, Lymphopenia,... OMIM:158350
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Myelodysplasia, Cirrhosis, Gastroesophageal reflux, Pancytopenia, Aplastic anem... OMIM:614742
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphoma, Hepatosp... OMIM:619126
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphadenopathy ORPHA:86893
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Dysphagia, Malignant neoplasm of the central nervous system... ORPHA:142
Prostate Cancer
Prostate cancer OMIM:176807
Smith-Magenis syndrome
Self-mutilation, Stereotypy DECIPHER:8
Solitary Fibrous Tumor/Hemangiopericytoma
Prostate cancer, Soft tissue neoplasm, Genital neoplasm, Neoplasm of the liver, Uterine neoplasm,... ORPHA:2126
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology ORPHA:111
Obesity, Hyperphagia, And Developmental Delay
Poor eye contact, Stereotypy OMIM:613886
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Myelodysplasia, Acute monocytic leukemia, Neuroblastoma, Abnormal alpha granule content, Abnormal... OMIM:601399
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Familial Melanoma
Abnormal hair morphology, Neoplasm of the breast, Neoplasm of the stomach, Neoplasm of the pancre... ORPHA:618
Lig4 Syndrome
Cryptorchidism, Leukocytosis, Hypothyroidism, Lymphoma, Pancytopenia, Hepatomegaly, Type II diabe... ORPHA:99812
Hirschsprung Disease
Neoplasm of the thyroid gland, Aganglionic megacolon, Functional abnormality of the gastrointesti... ORPHA:388
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Thyroiditis, Hypothyroidism, Meningi... OMIM:615109
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608049
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Leukocytosis, Neutropenia,... ORPHA:98850
Pendred Syndrome
Compensated hypothyroidism, Goiter, Thyroid carcinoma OMIM:274600
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Turcot Syndrome With Polyposis
Melena, Adenomatous colonic polyposis, Neoplasm of the central nervous system, Pilomatrixoma, Cer... ORPHA:99818
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Multiple Endocrine Neoplasia, Type Iia
Increased circulating cortisol level, Pheochromocytoma, Thyroid C cell hyperplasia, Parathyroid a... OMIM:171400
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Huntington Disease
Mental deterioration, Aggressive behavior, Disinhibition, Depression, Apathy, Abnormal cerebral w... ORPHA:399
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Goiter, Thyroid defect in oxidation and organification of iodide OMIM:274500
Storage Pool Platelet Disease
Myelodysplasia, Decreased mean platelet volume, Acute leukemia OMIM:185050
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Goiter, Increased circulating free T3 OMIM:188570
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Systemic Mastocytosis With Associated Hematologic Neoplasm
Chronic myelomonocytic leukemia, Abnormal mast cell morphology, Neutrophilia, Eosinophilia, Lymph... ORPHA:98849
Essential Thrombocythemia
Myelodysplasia, Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Abnormal cerebral white matter morphology, Frontotemporal cerebral atrophy ORPHA:275864
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Thyroiditis, Hypothyroidism, Meningi... OMIM:615108
Nk-Cell Enteropathy
Lymphoproliferative disorder, Gastric ulcer, Increased T cell count, Hematochezia, Gastroesophage... ORPHA:263665
N-Acetylaspartate Deficiency
Self-mutilation, Truncal ataxia, Stereotypy OMIM:614063
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Immunodeficiency 36
Chronic lymphatic leukemia, B-cell lymphoma, Lymphopenia, Splenomegaly OMIM:616005
Autosomal Dominant Severe Congenital Neutropenia
Hemangioma, Myelodysplasia, Monocytosis, Lymphopenia, Neutropenia, Acute myeloid leukemia, Eosino... ORPHA:486
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Kaposi's sarcoma, Splenomegaly OMIM:615593
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Cerebral cortical atrophy OMIM:600795
Frontotemporal Dementia With Motor Neuron Disease
Disinhibition, Depression, Apathy, Neuronal loss in the cerebral cortex, Frontotemporal dementia,... ORPHA:275872
Cheilitis Glandularis
Neoplasm, Abnormal salivary gland morphology, Squamous cell carcinoma ORPHA:1221
Pick Disease Of Brain
Emotional blunting, Apathy, Diminished motivation, Irritability, Stereotypy OMIM:172700
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Colitis, B-cell lymphoma, B lymphocytopenia, Splenomegaly, Lympha... OMIM:619164
Carney Complex
Elevated circulating growth hormone concentration, Osteochondroma, Hirsutism, Cardiac myxoma, Adr... ORPHA:1359
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Chilblain Lupus
Chronic myelomonocytic leukemia ORPHA:90280
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Ambiguous genitalia, Ovotestis, Carcinoma, Decreased testicular size, Extern... OMIM:610644
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm OMIM:615723
Schinzel-Giedion Midface Retraction Syndrome
Facial hemangioma, Macroglossia, Sacrococcygeal teratoma, Scrotal hypoplasia, Teratoma, Splenopan... OMIM:269150
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Mccune-Albright Syndrome
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Hyperthy... OMIM:174800
Lhermitte-Duclos Disease
Enlarged cerebellum, Polymicrogyria, Ataxia ORPHA:65285
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Mediastinal lymphadenopathy, Sarcoma, N... ORPHA:83469
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Central hypothyroidism... ORPHA:514
Hodgkin Lymphoma
Lymphoma, Neoplasm, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98293
Apolipoprotein A-I Deficiency
Anemia, Abnormality of the liver, Lymphadenopathy, Splenomegaly ORPHA:425
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Carcinoma, Renal a... OMIM:610755
Burkitt Lymphoma
Abnormality of the ovary, Neoplasm of the oral cavity, Gastrointestinal hemorrhage, Decreased pro... ORPHA:543
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... OMIM:616425
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Abnormal intestine morphology, Lymphaden... OMIM:618495
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Morphological abnormality of the gastrointestinal tract, Esophageal stenosis, Vulvar neoplasm, Tr... ORPHA:1018
Nasu-Hakola Disease
Functional abnormality of the gastrointestinal tract, Acute leukemia ORPHA:2770
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Teratoma, Volvulus, Cleft palate ORPHA:314621
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive h... OMIM:300853
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
Grfoma
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... ORPHA:97261
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myeloid leukemia OMIM:616604
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Hypoplasia of the corpus callosum, Microcephaly, Enlarged cerebellum ORPHA:85165
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly ORPHA:882
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Gcgr-Related Hyperglucagonemia
Glucagonoma, Neoplasm of the pancreas, Cholelithiasis ORPHA:438274
Lymphoproliferative Syndrome 3
Lymphoproliferative disorder, Reduced natural killer cell count, Hodgkin lymphoma, Hepatosplenome... OMIM:618261
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Multiple gastric polyps, Rectal polyposis, Hematochezia, Small intestinal polyposis, Adenomatous ... ORPHA:329971
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Hirsutism, Female external genitalia... ORPHA:206484
Pelizaeus-Merzbacher Disease
Reduction of oligodendroglia, Ataxia, Cerebral dysmyelination, Microcephaly, Choreoathetosis OMIM:312080
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Stereotypy, Spasticity OMIM:617393
Currarino Syndrome
Sacrococcygeal teratoma, Bifid scrotum, Male pseudohermaphroditism, Hypoplasia of penis, Hypospad... ORPHA:1552
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Sparse hair, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma OMIM:224750
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma ORPHA:454
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Cerebral atrophy, Gliosis, Gait ataxia OMIM:618369
Pyoderma Gangrenosum
Myeloid leukemia, Myelodysplasia, Inflammation of the large intestine ORPHA:48104
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Neoplasm, Hepatomegaly, Jaundice, Splenomegaly, Malabsorption ORPHA:172
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Spinal cord tumor, Uterine neoplasm, Brain neoplasm, Anemia, Neoplasm of the sc... ORPHA:370348
Laryngeal Neuroendocrine Tumor
Elevated calcitonin, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Increased se... ORPHA:100083
Primary Dystonia, Dyt13 Type
Postural tremor, Action tremor, Torticollis, Stereotypy, Involuntary movements ORPHA:98807
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Focal T2 hyperintense basal ganglia lesion, Gait ataxia, Diffuse spongiform leukoen... ORPHA:282166
Retinoblastoma
Retinoblastoma, Lymphoma, Cleft palate, Osteosarcoma, Pinealoma, Leukemia, Ewing sarcoma OMIM:180200
Steinert Myotonic Dystrophy
Male hypogonadism, Hypergonadotropic hypogonadism, Choroidal melanoma, Endometrial carcinoma, Dec... ORPHA:273
Juvenile Polyposis Syndrome
Hamartomatous stomach polyps, Juvenile gastrointestinal polyposis, Anemia, Intestinal polyp, Hama... ORPHA:2929
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Squamous cell carcinoma OMIM:613736
Bloom Syndrome
Cryptorchidism, Azoospermia, Lymphoma, Hypertrichosis, Leukemia, Squamous cell carcinoma OMIM:210900
Autoimmune Hemolytic Anemia, Warm Type
Lymphoproliferative disorder, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, ... ORPHA:90033
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Nail dystrophy, Carcinoma OMIM:615225
Cancer-Associated Retinopathy
Prostate cancer, Cutaneous melanoma, Neoplasm of the breast, Uterine neoplasm, Malignant genitour... ORPHA:71505
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis, Ataxia OMIM:172500
Noonan Syndrome 6
Cryptorchidism, Juvenile myelomonocytic leukemia, Sparse hair, Curly hair, Long eyebrows, Low pos... OMIM:613224
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Apathy, Emotional lability, Babinski sign, Stereotypy, Spasticity OMIM:612069
Ollier Disease
Hemangioma, Chondrosarcoma, Multiple enchondromatosis, Neoplasm, Sarcoma, Anemia, Visceral angiom... ORPHA:296
Insulinomatosis And Diabetes Mellitus
Diabetes mellitus, Hyperinsulinemic hypoglycemia, Multiple pancreatic beta-cell adenomas OMIM:147630
Aicardi Syndrome
Hiatus hernia, Hemangioma, Carcinoma, Metastatic angiosarcoma, Teratoma, Cleft palate, Precocious... OMIM:304050
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis, Megalencephaly OMIM:611087
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoplasia of the corpus callosum, Abnormal mitochondrial morphology OMIM:618528
Squamous Cell Carcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolaps... ORPHA:424019
Progressive Multifocal Leukoencephalopathy
Gait ataxia, Abnormal oligodendroglia morphology, Paresthesia, Somatic sensory dysfunction, Dysme... ORPHA:217260
Gray Platelet Syndrome
Thrombocytopenia, Myelodysplasia, Splenomegaly ORPHA:721
Barth Syndrome
Arrhythmia, Congestive heart failure, Abnormal mitochondrial morphology, Dilated cardiomyopathy, ... OMIM:302060
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibromas OMIM:606764
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma OMIM:171420
Follicular Lymphoma
Abnormality of the peritoneum, Lymphoma, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy, Self-injurious behavior OMIM:615282
Ovarian Fibrothecoma
Abnormality of the ovary, Fibrosarcoma, Hirsutism, Abnormality of the endometrium, Gonadal calcif... ORPHA:314478
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Goiter OMIM:274300
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebellar dysplasia, Dysplastic corpus... OMIM:604213
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Spastic Paraplegia Type 7
Cerebral cortical atrophy, Abnormal cerebral white matter morphology, Abnormal mitochondrial morp... ORPHA:99013
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Ambiguous genitalia, Aplasia of... ORPHA:755
Infantile Myofibromatosis
Gingival fibromatosis, Abnormal hair morphology, Benign neoplasm of the central nervous system, F... ORPHA:2591
Carney Triad
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Leiomyosarcoma, Adrenal ... ORPHA:139411
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Refractory Anemia With Excess Blasts
Single lineage myelodysplasia, Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of ... ORPHA:86839
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Fraxe Intellectual Disability
Clumsiness, Recurrent hand flapping, Stereotypical body rocking, Aggressive behavior ORPHA:100973
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Hemangioma, Lactose intolerance, Intestinal polyp, Hypospadias ORPHA:457485
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Aggressive behavior, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Stereotypy OMIM:619150
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal calcium-phosphate regulating hormone level, Abnormal testis morphology, Abnormal... ORPHA:457059
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Cranial nerve compression, Paraganglioma... ORPHA:276621
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
Ring Chromosome 12 Syndrome
Glandular hypospadias, Cryptorchidism, Hemangioma, Breast hypoplasia, Uterine leiomyoma, Hirsutis... ORPHA:1439
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Bone marrow hypocellularity, Squamous cell carcinoma, Nail dystrophy OMIM:613988
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Neurofibromatosis, Type I
Lisch nodules, Neurofibromas, Plexiform neurofibroma, Pheochromocytoma, Optic nerve glioma, Menin... OMIM:162200
Schinzel-Giedion Syndrome
Myeloid leukemia, Facial hemangioma, Macroglossia, Sacrococcygeal teratoma, Annular pancreas, Dys... ORPHA:798
Down Syndrome
Macroglossia, Acute megakaryocytic leukemia, Myeloproliferative disorder, Aganglionic megacolon, ... OMIM:190685
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hyperparathyroidism, Hamartoma, Hurthle cell thyroid adenoma, Papillary re... OMIM:145001
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Macroglossia, Ovarian neoplasm, Glossitis,... ORPHA:2221
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Ataxia-Telangiectasia
Non-Hodgkin lymphoma, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lym... OMIM:208900
Alpha-Thalassemia
Myelodysplasia, Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Spl... ORPHA:846
Dna2-Related Mitochondrial Dna Deletion Syndrome
Depression, Decreased mitochondrial number ORPHA:352470
Multiple Endocrine Neoplasia Type 4
Adrenocortical adenoma, Elevated circulating growth hormone concentration, Insulinoma, Carcinoid ... ORPHA:276152
Mastocytosis
Chronic leukemia, Gastrointestinal hemorrhage, Sarcoma, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Juvenile Nasopharyngeal Angiofibroma
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis ORPHA:289596
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Hypoplastic left heart, Anencephaly, Ventricular septal defect ORPHA:2476
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Retinal capillary hemangioma, Extraadrenal pheochromocytoma, Adrenal p... ORPHA:29072
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Impaired social interactions, Anxiety, Stereotypy ORPHA:168782
Baker-Gordon Syndrome
Self-injurious behavior, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, Chore... OMIM:618218
Paraneoplastic Pemphigus
Thymoma, Sarcoma, B-cell lymphoma ORPHA:63455
Hyperprolinemia, Type I
Stereotypy, Aggressive behavior, Ataxia OMIM:239500
Familial Pancreatic Carcinoma
Peritoneal abscess, Functional intestinal obstruction, Exocrine pancreatic insufficiency, Colon c... ORPHA:1333
Permanent Congenital Hypothyroidism
Macroglossia, Goiter, Hypothyroidism, Jaundice, Thyroid dysgenesis ORPHA:226292
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Elevated circulating growth hormone concentration, Increased circulating cor... OMIM:131100
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Meningioma, Neoplasm of the breast, Hashimoto thyroiditis, Uterine neoplasm, Neopl... ORPHA:109
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Mosaic Variegated Aneuploidy Syndrome
Ambiguous genitalia, Myelodysplasia, Hypothyroidism, Neoplasm, Cleft palate, Duodenal atresia, Ne... ORPHA:1052
Benign Schwannoma
Abnormal esophagus morphology, Scleral schwannoma, Abnormality of the liver, Abnormal parotid gla... ORPHA:252164
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphoma, Hepatomegaly, Splenomegaly, Cutaneous T-cell lymphoma, ... ORPHA:2584
Multiple Endocrine Neoplasia Type 2
Parathyroid hyperplasia, Neuroma, Pheochromocytoma, Multiple mucosal neuromas, Thyroid nodule, Ne... ORPHA:653
Gastrointestinal Stromal Tumor
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestinal hemorrhag... ORPHA:44890
Blepharochalasis And Double Lip
Goiter OMIM:109900
Pheochromocytoma
Pheochromocytoma, Neoplasm, Hemangioma OMIM:171300
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hirsutism, Hypopla... OMIM:300510
Mccune-Albright Syndrome
Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increased circu... ORPHA:562
Lymphoproliferative Syndrome 2
Hemophagocytosis, Lymphoproliferative disorder, Lymphoma, Pancytopenia, Hepatomegaly, Hodgkin lym... OMIM:615122
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypoplasia of the corpus callosum, Colpocephaly, Cerebral white matter hypoplasia, Enlarged cereb... ORPHA:477993
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, T lymphocytopenia, Squamous cell carcinoma of the vulva, Verrucae,... ORPHA:217390
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Abnormality of neutrophils, Lymphoma, Hepatomegaly, Normocytic anemi... ORPHA:33226
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Hyperparathyroidism-Jaw Tumor Syndrome
Fibroma, Dysphagia, Uterine leiomyoma, Abnormality of the parathyroid morphology, Renal hamartoma... ORPHA:99880
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Elevated circulating aspartate aminotransf... OMIM:615559
Multiple Endocrine Neoplasia, Type Iib
Parathyroid hyperplasia, Ganglioneuroma, Nodular goiter, Pheochromocytoma, Elevated calcitonin, M... OMIM:162300
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea, Self-injurious behavior OMIM:618760
Granulomatous Slack Skin
Hodgkin lymphoma, Abnormality of the lymph nodes, Lymphoma ORPHA:33111
Tuberous Sclerosis Complex
Parathyroid hyperplasia, Pancreatic endocrine tumor, Retinal astrocytic hamartoma, Cardiac rhabdo... ORPHA:805
Rothmund-Thomson Syndrome Type 1
Cryptorchidism, Myelodysplasia, Basal cell carcinoma, Premature ovarian insufficiency, Sparse hai... ORPHA:221008
Hemihyperplasia, Isolated
Embryonal neoplasm, Myelomeningocele, Nephroblastoma OMIM:235000
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Pendred Syndrome
Hypothyroidism, Goiter, Thyroid carcinoma, Hyperparathyroidism ORPHA:705
Carney-Stratakis Syndrome
Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma ORPHA:97286
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Atypical Rett Syndrome
Pill-rolling tremor, Impaired social interactions, Apraxia, Tremor, Gait ataxia, Poor eye contact... ORPHA:3095
Familial Thyroid Dyshormonogenesis
Macroglossia, Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevat... ORPHA:95716
Retinoblastoma
Retinoblastoma, Glioma, Lymphoma, Leiomyosarcoma, Osteosarcoma, Rhabdomyosarcoma, Cleft palate, L... ORPHA:790
Parathyroid Carcinoma
Parathyroid carcinoma, Fibroma, Dysphagia, Uterine leiomyoma, Abnormality of the parathyroid morp... ORPHA:143
Fanconi Anemia, Complementation Group E
Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thr... OMIM:600901
Ovarian Fibroma
Basal cell carcinoma, Abnormality of the ovary, Odontogenic keratocysts of the jaw, Gonadal calci... ORPHA:314473
Immunodeficiency 54
Lymphoproliferative disorder, Hepatomegaly, Reduced natural killer cell count, Adrenocorticotropi... OMIM:609981
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Oligodontia-Colorectal Cancer Syndrome
Fundic gland polyposis, Short eyelashes, Sparse axillary hair, Absent eyebrow, Sparse scalp hair,... OMIM:608615
Neurofibromatosis Type 1
Cryptorchidism, Lisch nodules, Neoplasm of the gastrointestinal tract, Urinary tract neoplasm, Ab... ORPHA:636
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Thrombocytopenia, ... ORPHA:69077
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Squamous cell carcinoma, Melanoma ORPHA:90342
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Splenomegaly OMIM:615947
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphoma, Neoplasm, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:240500
Developmental And Epileptic Encephalopathy 58
Spastic diplegia, Stereotypy OMIM:617830
Schnitzler Syndrome
Leukocytosis, Lymphoma, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Oncogenic Osteomalacia
Neoplasm of head and neck, Neurofibromas, Carcinoma, Giant cell tumor of bone, Neoplasm of the sk... ORPHA:352540
Mental Retardation With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Speech apraxia, Self-injurious behavior, Anxiety, Stereotypy OMIM:613670
Familial Thrombocytosis
Myelodysplasia, Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly ORPHA:71493
Mismatch Repair Cancer Syndrome 3
Lisch nodules, Neoplasm of the rectum, Glioblastoma multiforme, Lymphoma, T-cell lymphoma, Astroc... OMIM:619097
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thr... OMIM:227650
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Hyposmia, Azoospermia, Leukoencephalopathy OMIM:613724
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Ataxia OMIM:618709
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Irritability, Spasticity ORPHA:500545
Dyskeratosis Congenita, X-Linked
Cryptorchidism, Premature graying of hair, Pancytopenia, Hodgkin lymphoma, Leukopenia, Anemia, De... OMIM:305000
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Decreased mean corpuscular volume, Hepatomegaly, Anemia, Splenomegaly, ... OMIM:615234
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the thyroid gland, Abnormal calcium-phosphate regulating hormone lev... ORPHA:417
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Bloom Syndrome
Neoplasm of the breast, Neoplasm, Malignant genitourinary tract tumor, Myelodysplasia, Gastroesop... ORPHA:125
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Porphyria Due To Ala Dehydratase Deficiency
Abnormal erythrocyte enzyme level, Myeloproliferative disorder ORPHA:100924
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Aplasia of the uterus, Elevated circulating lut... ORPHA:99429
Tatton-Brown-Rahman Syndrome
Myeloid leukemia, Cryptorchidism, Neuroendocrine neoplasm, Thick eyebrow ORPHA:404443
Polycythemia Vera
Myelodysplasia, Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Portal hypertension, Acu... ORPHA:729
Paroxysmal Nocturnal Hemoglobinuria
Myelodysplasia, Hemolytic anemia, Dysphagia, Pancytopenia, Acute myeloid leukemia, Hypoplastic an... ORPHA:447
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Liposarcoma
Sarcoma ORPHA:69078
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Stereotypy OMIM:615541
Immunodeficiency With Hyper-Igm, Type 4
Myelodysplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Absence of lymph node g... OMIM:608184
Fanconi Anemia, Complementation Group C
Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thr... OMIM:227645
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Gliosis, Ataxia, Cerebellar atrophy, Cerebral cortical neurodegeneration OMIM:203700
Rothmund-Thomson Syndrome Type 2
Cryptorchidism, Myelodysplasia, Basal cell carcinoma, Sparse hair, Squamous cell carcinoma, Neutr... ORPHA:221016
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Abnormal social behavior, Ataxia, Myoclonus, Choreoathetosis ORPHA:391417
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Mental Retardation, Autosomal Recessive 41
Anxiety, Stereotypy OMIM:615637
46,Xy Sex Reversal 6
Chordee, Gonadoblastoma, Sex reversal, Dysgerminoma, Hirsutism, Sparse axillary hair, Hypospadias... OMIM:613762
Immunodeficiency 55
Myelodysplasia, Neutropenia, Lymphadenopathy OMIM:617827
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Stereotypy OMIM:609425
Classic Hodgkin Lymphoma
Lymphoma, Neoplasm, Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia, Verrucae, Squamous cell carcinoma of the skin OMIM:618309
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia OMIM:225250
Large Congenital Melanocytic Nevus
Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma, Generalized hirsutism, Neoplasm of the skin ORPHA:626
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Hematochezia, Gastrointestinal carcinoma, Protein-losing enteropathy, Xerostomia, Anem... OMIM:175500
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Burkitt lymphoma, Lymphoma, Pancytopenia, Thrombocy... OMIM:308240
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal, Squamous cell carcinoma of the skin ORPHA:85112
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, ... ORPHA:97289
Shwachman-Diamond Syndrome
Neutropenia, Pancytopenia, Pancreatic hypoplasia, Leukopenia, Anemia, Fat malabsorption, Myelodys... ORPHA:811
Pontocerebellar Hypoplasia, Type 11
Poor eye contact, Limb ataxia, Poor coordination, Ataxia, Happy demeanor, Stereotypy, Spasticity OMIM:617695
Severe Intellectual Disability And Progressive Spastic Paraplegia
Shyness, Babinski sign, Stereotypy, Progressive spastic paraplegia, Spastic dysarthria, Spasticity ORPHA:280763
Sweet Syndrome
Inflammation of the large intestine, Leukocytosis, Chronic lymphatic leukemia, Neoplasm, Hematolo... ORPHA:3243
Nephroblastoma
Neoplasm of the liver, Neoplasm, Nephroblastoma, Neoplasm of the lung, Lymphadenopathy ORPHA:654
Congenital Hypothyroidism
Macroglossia, Goiter, Anterior hypopituitarism, Hypothyroidism, Prolonged neonatal jaundice, Abno... ORPHA:442
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, B... ORPHA:79302
Nijmegen Breakage Syndrome
Low anterior hairline, Hemolytic anemia, Abnormal hair morphology, Abnormal hair quantity, Autoim... ORPHA:647
Ichthyosis, Hystrix-Like, With Deafness
Absent eyelashes, Scarring alopecia of scalp, Sparse and thin eyebrow, Squamous cell carcinoma, S... OMIM:602540
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Mosaic Variegated Aneuploidy Syndrome 1
Cryptorchidism, Ambiguous genitalia, Bifid scrotum, Nephroblastoma, Rhabdomyosarcoma, Cleft palat... OMIM:257300
Congenital Factor Xiii Deficiency
Myeloid leukemia, Inflammation of the large intestine ORPHA:331
Foxg1 Syndrome
Impaired social interactions, Poor eye contact, Hyperkinetic movements, Myoclonus, Stereotypy, St... ORPHA:561854
Bone Marrow Failure Syndrome 3
Cryptorchidism, Sparse hair, Pancytopenia, Acute myeloid leukemia, Aplastic anemia, Aplasia/Hypop... OMIM:617052
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver... ORPHA:79301
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Abnormality of the thymus OMIM:208910
Nevus Comedonicus Syndrome
Spina bifida, Hamartoma, Spina bifida occulta ORPHA:64754
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Gait ataxia, Chorea, Self-injurious behavior, Stereotypy, Stereotypical hand wringing, Spasticity OMIM:618917
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Goiter, Increased circulating T4 level, Elevated h... ORPHA:525731
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Esophageal atresia, Reticulocytopeni... OMIM:227646
Myxedema
Hypothyroidism, Goiter, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
Down Syndrome
Macroglossia, Acute megakaryocytic leukemia, Narrow palate, Hypothyroidism, Aganglionic megacolon... ORPHA:870
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:275200
Bangstad Syndrome
Pancytopenia, Goiter, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus OMIM:210740
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Lymphoproliferative Syndrome 1
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased... OMIM:613011
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism OMIM:613313
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma, Squamous cell carcinoma ORPHA:542592
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Hamartoma, Ovarian neoplasm, Neoplasm of the thyroid gland, Neoplasm of the breast, Visceral angi... ORPHA:137608
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Fibular Dimelia-Diplopodia Syndrome
Sacrococcygeal teratoma ORPHA:1757
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Mycosis Fungoides