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Gene: Pten MGI:109583

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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:
A130070J02Rik,  2310035O07Rik,  B430203M17Rik,  TEP1,  MMAC1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Abnormal... ORPHA:145
Meningioma, Familial, Susceptibility To
Meningioma OMIM:607174
Cowden Syndrome
High palate, Furrowed tongue, Enlarged polycystic ovaries, Meningioma, Neoplasm of the thyroid gl... ORPHA:201
Cowden Syndrome 1
Hydrocele testis, Thyroiditis, High palate, Lymphopenia, Breast carcinoma, Fibroadenoma of the br... OMIM:158350
Prostate Cancer
Prostate cancer OMIM:176807
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm, Lipoma, Thyroid carcinoma, Uterine neoplasm, Abnormal large intestine morphology, Narro... ORPHA:109
Lhermitte-Duclos Disease
Ataxia, Enlarged cerebellum ORPHA:65285
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Lymphangioma, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyroid gland,... ORPHA:137608
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... ORPHA:79076
Proteus-Like Syndrome
Exostoses, Splenomegaly, Hemangioma, Polycystic ovaries, Abnormality of the parathyroid gland, Th... ORPHA:2969
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Proteus Syndrome
Neoplasm, Lymphangioma, Ovarian neoplasm, Lipoma, Exostoses, Macroorchidism, Splenomegaly, Neopla... ORPHA:744
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hypoplasia of the pons, Cerebellar ... ORPHA:101070

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
Cutaneous angiolipomas, Chemodectoma, Retroperitoneal chemodectomas OMIM:118350
Paragangliomas 7
Pheochromocytoma, Paraganglioma OMIM:618475
Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma, Neoplasm of the gastrointestinal tract OMIM:606864
Paragangliomas 5
Paraganglioma OMIM:614165
Carcinoid Tumors, Intestinal
Intestinal carcinoid OMIM:114900
Schwannomatosis 2
Schwannoma, Spinal cord tumor OMIM:615670
Schwannomatosis 1
Schwannoma, Spinal cord tumor, Meningioma OMIM:162091
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608631
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
Carcinoid tumor, Neurofibromas, Pheochromocytoma 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
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Ovarian cyst, Duodenal a... ORPHA:454840
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Breast carci... ORPHA:587
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Cowden-Like syndrome
Papillary thyroid carcinoma, Uterine leiomyoma, Endometrial carcinoma, Breast carcinoma OMIM:612359
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Adenomatous colonic polyposis, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinom... OMIM:613244
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma OMIM:135290
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Prostate cancer, Breast carcin... ORPHA:157798
Hereditary Mixed Polyposis Syndrome
Adenomatous colonic polyposis, Neoplasm of the rectum, Thyroid carcinoma, Prostate cancer, Hyperp... ORPHA:157794
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Polymerase Proofreading-Related Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... ORPHA:447877
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Autism
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:209850
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608636
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Endometrial carcinoma, Ovarian neoplasm, Hereditary nonpolyposis colorectal carcinoma OMIM:614337
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Glioma Susceptibility 9
Glioma, Renal neoplasm, Neoplasm of the lung, Leukemia, Astrocytoma OMIM:616568
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Prostate cancer, Breast carcinoma... OMIM:151623
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Breast carcinoma, Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Renal co... ORPHA:97290
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Pten Hamartoma Tumor Syndrome
Papilloma, Neoplasm, Lipoma, Thyroid carcinoma, Breast carcinoma, Hemangioma, Endometrial carcino... ORPHA:306498
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Refractory anemia with ringed sideroblasts,... OMIM:133180
Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma OMIM:614350
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Renal cell carcinoma, Neopl... OMIM:114500
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
N Syndrome
Hypospadias, Cryptorchidism, Leukemia, Neoplasm OMIM:310465
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom... ORPHA:319487
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Multiple cutaneous leiomyomas, Uterine... ORPHA:523
Li-Fraumeni Syndrome 2
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Intellectual Developmental Disorder, Autosomal Recessive 64
Hypertonia, Aggressive behavior, Spasticity, Impaired social interactions, Slurred speech OMIM:618103
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation OMIM:131440
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Impaired social interactions OMIM:606053
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Abnormal... ORPHA:145
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme OMIM:619096
Familial Adenomatous Polyposis 4
Papilloma, Thyroid adenoma, Astrocytoma, Stomach cancer OMIM:617100
Msh3-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... ORPHA:480536
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia OMIM:246470
Paragangliomas 3
Glomus jugular tumor, Neoplasm, Extraadrenal pheochromocytoma, Elevated circulating catecholamine... OMIM:605373
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, Follicular hyperplasia, ... OMIM:614470
Paragangliomas 1
Glomus jugular tumor, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Vagal parag... OMIM:168000
Meningioma, Familial, Susceptibility To
Meningioma OMIM:607174
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Paragangliomas 2
Glomus jugular tumor, Neoplasm, Glomus tympanicum paraganglioma, Vagal paraganglioma, Chemodectoma OMIM:601650
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Nephroblastoma, Thyroid nodule, Embryonal rhabdomyosarcoma, Ovarian the... OMIM:180295
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... ORPHA:220460
Mismatch Repair Cancer Syndrome 4
Adenomatous colonic polyposis, Non-Hodgkin lymphoma, Colon cancer, Glioblastoma multiforme, Astro... OMIM:619101
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Multiple myeloma, Hemophagocytosis, Hepatic failure, T-cell lymphoma, Pancytopenia, Burkitt lymph... ORPHA:158057
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyoma,... OMIM:150800
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Paragangliomas 4
Glomus jugular tumor, Neoplasm, Neuroblastoma, Gastrointestinal stroma tumor, Paraganglioma of he... OMIM:115310
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis ORPHA:401911
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Esophageal carcinoma ORPHA:99977
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Lymphoid leukemia, Basa... ORPHA:79140
Cowden Syndrome
High palate, Furrowed tongue, Enlarged polycystic ovaries, Meningioma, Neoplasm of the thyroid gl... ORPHA:201
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular schwannoma, Carcinoma OMIM:603641
Polyposis Syndrome, Hereditary Mixed, 2
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... OMIM:610069
Testicular Germ Cell Tumor
Choriocarcinoma, Embryonal neoplasm, Azoospermia, Teratoma OMIM:273300
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Lymphoma, Myelodysplasia, Refractory anemia, Bone marrow hypocellularity... OMIM:616871
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A... ORPHA:231401
Mantle Cell Lymphoma
B-cell lymphoma, Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Cowden Syndrome 7
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... OMIM:616858
Unclassified Myelodysplastic Syndrome
Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia, Bone marrow hypocellularity, Acute... ORPHA:98827
Lymphedema, Primary, With Myelodysplasia
Myelodysplasia, Pancytopenia, Verrucae, Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio OMIM:614038
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior OMIM:300495
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm, Breast carcinoma OMIM:604370
Wt Limb-Blood Syndrome
Hypoplastic anemia, Pancytopenia, Cryptorchidism, Thrombocytopenia, Leukemia OMIM:194350
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Medullary Thyroid Carcinoma
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Neoplasm of the lung,... ORPHA:1332
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Premature graying o... OMIM:614743
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
Primary Erythromelalgia
Leukemia ORPHA:90026
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Myelodysplasia, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Carney Complex, Type 1
Pituitary adenoma, Elevated circulating growth hormone concentration, Thyroid carcinoma, Myxoid s... OMIM:160980
Ovarian Cancer
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma OMIM:167000
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Myelodysplasia, Neutropenia, Bone marrow hypocel... OMIM:619041
Cronkhite-Canada Syndrome
Neoplasm, Malabsorption, Hepatomegaly, Stomach cancer, Splenomegaly, Furrowed tongue, Intestinal ... ORPHA:2930
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Breast carcinoma, Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in... ORPHA:90790
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Myelodysplasia, Bone marrow hypocellularity, Anemia, Thromb... OMIM:619151
Gonadoblastoma
Gonadoblastoma OMIM:424500
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Birt-Hogg-Dube Syndrome
Fibrofolliculoma, Renal neoplasm, Large intestinal polyposis, Multiple lipomas, Renal cell carcin... OMIM:135150
Intellectual Developmental Disorder, Autosomal Recessive 66
Shyness, Gait ataxia, Aggressive behavior OMIM:618221
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
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Multiple lineage myelodysplasia, Macrocytic anemia, Erythroid hypoplasi... ORPHA:86841
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Myelodys... OMIM:614172
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274700
Ganglioneuroma
Neoplasm of the adrenal gland, Abnormality of the adrenal glands, Multiple intestinal neurofibrom... ORPHA:251992
Thyroid Cancer, Nonmedullary, 1
Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma OMIM:188550
Teratoma, Pineal
Abnormal abdomen morphology, Teratoma OMIM:273120
Desmoid Tumor
Malabsorption, Desmoid tumors, Intestinal obstruction, Fibroma, Intestinal polyposis, Gastrointes... ORPHA:873
Fanconi Anemia, Complementation Group D1
Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Anal atresia, Acute myeloid le... OMIM:605724
Thyroid Lymphoma
Hyperthyroidism, Lymphoma, Hypothyroidism, Hashimoto thyroiditis, Dysphagia, Goiter, Lymphadenopathy ORPHA:97285
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Testicular seminoma, Hypogonadism, Cryptorchidism, Acute leukemia ORPHA:281090
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Gestational Choriocarcinoma
Choriocarcinoma, Neoplasm, Trophoblastic tumor ORPHA:99926
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Dysphagia, Abnormal intestine mo... ORPHA:70482
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Self-injurious behavior, Spastic diplegia, Choreoathetosis, Aggressive behavior OMIM:617270
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia OMIM:616873
Mismatch Repair Cancer Syndrome 1
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... OMIM:276300
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Intestinal bleeding, Uterine neoplasm, Multiple gastric polyps, Breast ... OMIM:175200
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Neoplasm of the rectum, Pituitary adenoma, Neoplasm of the colon, Uteri... ORPHA:440437
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Thick eyebrow, High, narrow palate, Breast carcinoma, Melanoma, Endometrial carcinoma ORPHA:457212
Adenocarcinoma Of The Esophagus
Lymphadenopathy, Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus ORPHA:99976
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Self-injurious behavior, Poor eye contact, Involuntary movements, Spasticity, I... OMIM:617820
Lynch Syndrome
Neoplasm of the rectum, Neoplasm of the pancreas, Pituitary adenoma, Malabsorption, Ovarian neopl... ORPHA:144
Testicular Germ Cell Tumor 1
Germ cell neoplasia OMIM:300228
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,... ORPHA:733
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... ORPHA:276399
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Splenomegaly, Acute myelomonocytic leukemia, Abnormal macrophage morphology, ... ORPHA:2585
Solitary Fibrous Tumor/Hemangiopericytoma
Genital neoplasm, Neoplasm, Neoplasm of the liver, Uterine neoplasm, Prostate cancer, Neoplasm of... ORPHA:2126
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphoma, Decreased proportion of class-switched memo... OMIM:619126
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po... ORPHA:247798
Cowden Syndrome 1
Hydrocele testis, Thyroiditis, High palate, Lymphopenia, Breast carcinoma, Fibroadenoma of the br... OMIM:158350
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Tracheoesophageal fistula, Neoplasm of the lung, Malignant neoplasm... ORPHA:142
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Squamous cell carcino... ORPHA:50944
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma, Multinodular goiter, Nail dystrophy, Alopecia OMIM:618373
Thyroid Cancer, Nonmedullary, 4
Goiter, Non-medullary thyroid carcinoma OMIM:616534
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Depressed nasal bridge, Abnormal mitochondrial morphology, Decrea... OMIM:618378
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Gastroesophageal reflux, Cirrhosis, Aplastic anemia, Myeloid leukemia, Mediastinal lymphadenopath... OMIM:614742
Aggressive Systemic Mastocytosis
Decreased liver function, Malabsorption, Neutropenia, Abnormal mast cell morphology, Leukocytosis... ORPHA:98850
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Meningioma, Nephroblastoma OMIM:602501
Smith-Magenis syndrome
Motor stereotypy, Self-mutilation DECIPHER:8
Prostate Cancer
Prostate cancer OMIM:176807
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... ORPHA:3226
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Impaired social interactions, Self-injurious behavior, Stereotypical hand wringing, Hyperkinetic ... ORPHA:397933
Cowden Syndrome 6
Hydrocele testis, Thyroiditis, High palate, Breast carcinoma, Fibroadenoma of the breast, Ovarian... OMIM:615109
Hirschsprung Disease
Intestinal obstruction, Intestinal polyposis, Functional abnormality of the gastrointestinal trac... ORPHA:388
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology ORPHA:111
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy, Sarcoma ORPHA:66661
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia... OMIM:601399
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Neoplasm of the breast, Neoplasm of the stomach, Abnormal hai... ORPHA:618
Lig4 Syndrome
Malabsorption, Type II diabetes mellitus, Hepatomegaly, Hypoplasia of penis, Leukocytosis, Lympho... ORPHA:99812
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Pancytopenia, Anemia, Thrombocyto... OMIM:159550
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Nodular Lymphocyte Predominant Hodgkin Lymphoma
B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphoma, Lymphadenopathy ORPHA:86893
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Ovarian neoplasm, Breast carcinoma, Benign gastrointestinal ... OMIM:158320
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy, Poor eye contact OMIM:613886
Autism, Susceptibility To, 3
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608049
Immunodeficiency 84
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Epidermodysplasia Verruciformis, Susceptibility To, 3
Squamous cell carcinoma, Basal cell carcinoma OMIM:618267
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia OMIM:223350
Turcot Syndrome With Polyposis
Melena, Hepatoblastoma, Soft tissue neoplasm, Hematochezia, Basal cell carcinoma, Intestinal poly... ORPHA:99818
Pendred Syndrome
Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274600
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Astrocytosis ORPHA:100070
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Multiple Endocrine Neoplasia, Type Iia
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Pheochrom... OMIM:171400
Thymoma
Neoplasm, Non-Hodgkin lymphoma, Neoplasm of the gastrointestinal tract, Neoplasm of the lung, Pro... ORPHA:99867
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Stomach cancer, Neoplasm of the small intestine, Rectal prolapse, Gastroi... ORPHA:2869
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Systemic Mastocytosis With Associated Hematologic Neoplasm
Multiple myeloma, Hepatomegaly, Neutrophilia, Lymphadenopathy, Abnormal mast cell morphology, Spl... ORPHA:98849
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter OMIM:274500
Cowden Syndrome 5
Hydrocele testis, Thyroiditis, High palate, Breast carcinoma, Hyperthyroidism, Ovarian cyst, Hypo... OMIM:615108
Essential Thrombocythemia
Myelodysplasia, Acute leukemia, Abnormal platelet morphology, Splenomegaly ORPHA:3318
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology, Progressive neurologic deteriorat... OMIM:300438
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Recurrent infection of the gastrointestinal tract, Hemangioma, Eosinophilia, Monocyt... ORPHA:486
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Increased circulating free T3, Impaired sensitivity to thyroid hormone OMIM:188570
Storage Pool Platelet Disease
Myelodysplasia, Acute leukemia, Decreased mean platelet volume OMIM:185050
Multiple Endocrine Neoplasia Type 1
Pituitary growth hormone cell adenoma, Thymoma, Increased serum serotonin, Intestinal carcinoid, ... ORPHA:652
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Lymphoproliferativ... ORPHA:263665
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm, Abnormal salivary gland morphology ORPHA:1221
Immunodeficiency 76
B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lympha... OMIM:619164
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Alpha-Heavy Chain Disease
Malabsorption, Hepatomegaly, Splenomegaly, Lymphoma, Abnormality of the small intestine, Anemia, ... ORPHA:100025
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Esophageal neoplasm, Uterine neoplasm, Gastroesophageal reflux, Morpholog... ORPHA:1018
Chilblain Lupus
Chronic myelomonocytic leukemia ORPHA:90280
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
External genital hypoplasia, Hypospadias, Ovotestis, Ambiguous genitalia, Clitoral hypertrophy, D... OMIM:610644
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Immunodeficiency 16
Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Schinzel-Giedion Midface Retraction Syndrome
Hepatoblastoma, Teratoma, Macroglossia, Micropenis, Bicornuate uterus, Hypospadias, Splenopancrea... OMIM:269150
N-Acetylaspartate Deficiency
Motor stereotypy, Truncal ataxia, Self-mutilation OMIM:614063
Mccune-Albright Syndrome
Pituitary adenoma, Precocious puberty, Elevated circulating growth hormone concentration, Hyperth... OMIM:174800
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Neoplasm of the central nervous system, Neopla... ORPHA:83469
Nasu-Hakola Disease
Functional abnormality of the gastrointestinal tract, Acute leukemia ORPHA:2770
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... ORPHA:514
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Intestina... ORPHA:543
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Precocious puberty, Uterine neoplasm, Ovarian neoplasm, Peripheral prim... ORPHA:370348
46,Xy Sex Reversal 10
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... OMIM:616425
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... OMIM:610755
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Volvulus, Cleft palate, Teratoma ORPHA:314621
Pick Disease Of Brain
Motor stereotypy, Apathy, Emotional blunting, Diminished motivation, Irritability OMIM:172700
Grfoma
Neoplasm of the pancreas, Cholelithiasis, Pituitary adenoma, Abnormality of the thyroid gland, El... ORPHA:97261
Fetal Iodine Deficiency Disorder
Congenital hypothyroidism, Congenital goiter OMIM:228355
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Lymphoproliferative Syndrome 3
Hodgkin lymphoma, Lymphoproliferative disorder, Hepatosplenomegaly, Lymphadenopathy, Reduced natu... OMIM:618261
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myeloid leukemia OMIM:616604
Immunodeficiency 36
B-cell lymphoma, Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphati... OMIM:616005
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Splenomegaly, Acute myelomonocytic leukemia, Pancytopenia, Bone marrow hypocellula... ORPHA:86843
Carney Complex
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Enchondroma, Ovarian cyst, Increas... ORPHA:1359
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Glucagonoma ORPHA:438274
Ollier Disease
Chondrosarcoma, Neoplasm, Precocious puberty, Lymphangioma, Anemia, Hemangioma, Multiple enchondr... ORPHA:296
Agammaglobulinemia 8B, Autosomal Recessive
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... OMIM:619824
Hodgkin Lymphoma
Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy ORPHA:98293
Gonadoblastoma
Ovarian gonadoblastoma, Hirsutism, Gonadal dysgenesis with female appearance, male, Female extern... ORPHA:206484
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
B-cell lymphoma, Hodgkin lymphoma, Splenomegaly, Lymphoproliferative disorder, Mediastinal lympha... OMIM:300853
Subependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251639
Ependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251636
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Goiter OMIM:225040
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Duodenal poly... ORPHA:329971
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma ORPHA:454
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... ORPHA:71505
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Basal ganglia gliosis, Astrocytosis, Choreoathetosis, Gait ataxia ORPHA:225154
Schopf-Schulz-Passarge Syndrome
Sparse hair, Squamous cell carcinoma, Basal cell carcinoma, Poroma, Apocrine hidrocystoma OMIM:224750
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone... ORPHA:100083
Pyoderma Gangrenosum
Myelodysplasia, Myeloid leukemia, Inflammation of the large intestine ORPHA:48104
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Chorea, Aggressive behavior, Paroxysmal dyskinesia OMIM:619150
Currarino Syndrome
Hypoplasia of penis, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, Sacrococcygeal terat... ORPHA:1552
Huntington Disease
Bradyphrenia, Apathy, Abnormality of the sense of smell, Depression, Mental deterioration, Anxiet... ORPHA:399
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Spasticity, Irritability OMIM:617393
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma, Recurrent cutaneous abscess formation OMIM:613736
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Gliosis, Astrocytosis ORPHA:204
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Gastrointest... ORPHA:79456
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Decreased response to growth h... ORPHA:273
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Lymphoproliferative disorder, Chronic lymphatic leukemia, Autoimmune hemolytic anem... ORPHA:90033
Juvenile Polyposis Syndrome
Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Hematochezia, Gastro... ORPHA:2929
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Astrocytosis OMIM:172500
Frontotemporal Dementia With Motor Neuron Disease
Apathy, Depression, Abnormal mitochondrial morphology, Disinhibition, Frontotemporal dementia ORPHA:275872
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Nail dystrophy, Carcinoma OMIM:615225
Ring Chromosome 12 Syndrome
Hirsutism, Cryptorchidism, High, narrow palate, Hemangioma, Glandular hypospadias, Breast hypopla... ORPHA:1439
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hodgkin lymphoma, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromb... OMIM:619375
Noonan Syndrome 6
Sparse hair, Juvenile myelomonocytic leukemia, Long eyebrows, Cryptorchidism, Curly hair, Low pos... OMIM:613224
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Single lineage myelodysplasia, Leukocytosis, Abnormal mean corpu... ORPHA:86839
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Cleft palate, Lymphoma, Osteosarcoma, Leukemia, Pinealoma OMIM:180200
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Hodgkin lymphoma, Prostate cancer, Stomach cancer, Breast carcinoma, Melanom... ORPHA:79501
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Papilloma, Neoplasm of the liver, Anal canal squamous cell carcinoma, Int... ORPHA:424019
Aicardi Syndrome
Lipoma, Precocious puberty, Hepatoblastoma, Teratoma, Hiatus hernia, Cleft palate, Hemangioma, Me... OMIM:304050
Progressive Multifocal Leukoencephalopathy
Dysmetria, Somatic sensory dysfunction, Gait ataxia, Abnormal astrocyte morphology, Paresthesia, ... ORPHA:217260
Gastrointestinal Stromal Tumor
Intestinal obstruction, Neurofibromas, Gastrointestinal stroma tumor OMIM:606764
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma OMIM:171420
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Hirsutism, Fibrosarcoma, Abnormal endometrium morphology, Gonadal calcifi... ORPHA:314478
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232
Carney Triad
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Adrenal o... ORPHA:139411
Infantile Myofibromatosis
Neoplasm of the pancreas, Abnormal hair morphology, Tracheoesophageal fistula, Neoplasm of the lu... ORPHA:2591
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor ORPHA:98807
Gist-Plus Syndrome
Intestinal polyposis, Intussusception, Gastrointestinal stroma tumor OMIM:175510
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Self-injurious behavior, Spastic tetraplegia OMIM:615282
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart ORPHA:2476
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypospadias, Hemangioma, Intestinal polyp, Cryptorchidism, Lactose intolerance ORPHA:457485
Progressive Familial Intrahepatic Cholestasis
Neoplasm, Malabsorption, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm, Lipoma, Thyroid carcinoma, Uterine neoplasm, Abnormal large intestine morphology, Narro... ORPHA:109
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Neoplasm, Generalized hirsutism, Ovarian neoplasm, Macroglossia, Hyp... ORPHA:2221
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Aggressive behavior, Stereotypical body rocking, Poor coordination OMIM:309548
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cranial nerve compression, Paraganglioma of head and neck, Paraganglioma, Extraadrenal pheochromo... ORPHA:276621
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Abnorma... ORPHA:457059
Neurofibromatosis, Type I
Optic nerve glioma, Plexiform neurofibroma, Parathyroid adenoma, Pheochromocytoma, Rhabdomyosarco... OMIM:162200
Hyperkeratosis Lenticularis Perstans
Squamous cell carcinoma, Basal cell carcinoma ORPHA:409
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Fraxe Intellectual Disability
Clumsiness, Recurrent hand flapping, Aggressive behavior, Stereotypical body rocking ORPHA:100973
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Cranial nerve compression, Paraganglioma of head and neck, Paraganglio... ORPHA:29072
Mastocytosis
Splenomegaly, Mastocytosis, Sarcoma, Chronic leukemia, Gastrointestinal hemorrhage, Acute leukemia ORPHA:98292
Schinzel-Giedion Syndrome
Annular pancreas, High palate, Hepatoblastoma, Teratoma, Streak ovary, Macroglossia, Micropenis, ... ORPHA:798
Hyperparathyroidism 2 With Jaw Tumors
Hurthle cell thyroid adenoma, Parathyroid adenoma, Parathyroid carcinoma, Nephroblastoma, Renal c... OMIM:145001
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Abnormality of the peritoneum, Lymphadenopathy ORPHA:545
Juvenile Nasopharyngeal Angiofibroma
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis ORPHA:289596
Gray Platelet Syndrome
Myelodysplasia, Thrombocytopenia, Splenomegaly ORPHA:721
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Apathy, Upper motor neuron dysfunction, Emotional blunting, Aggressive behavior... ORPHA:275864
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Apathy, Babinski sign, Spasticity, Emotional lability OMIM:612069
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Supernumerary nipple, Micropenis, Myelodysplasia, Cryptorchidism, Leukemia, Highly arched eyebrow OMIM:619951
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Pheochromocytoma
Hemangioma, Neoplasm, Pheochromocytoma OMIM:171300
Dna2-Related Mitochondrial Dna Deletion Syndrome
Depression, Decreased mitochondrial number ORPHA:352470
Permanent Congenital Hypothyroidism
Macroglossia, Thyroid dysgenesis, Hypothyroidism, Goiter, Jaundice ORPHA:226292
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Familial Pancreatic Carcinoma
Neoplasm of the liver, Exocrine pancreatic insufficiency, Extrahepatic cholestasis, Breast carcin... ORPHA:1333
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... OMIM:131100
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Epidermodysplasia Verruciformis, Susceptibility To, 2
Squamous cell carcinoma of the skin, Verruca plana OMIM:618231
Immunodeficiency 104
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Myelodysplasia, Microcytic a... ORPHA:846
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Mosaic Variegated Aneuploidy Syndrome
Neoplasm, Duodenal atresia, Cleft palate, Stomach cancer, Nephroblastoma, Rhabdomyosarcoma, Hypot... ORPHA:1052
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Breast carcinoma, Micropenis, Hypospadias, Melanoma, Ab... ORPHA:1916
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Benign Schwannoma
Abnormality of the adrenal glands, Vestibular schwannoma, Abnormal esophagus morphology, Intestin... ORPHA:252164
Hyperparathyroidism-Jaw Tumor Syndrome
Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Parathyroid adenoma, Primar... ORPHA:99880
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Pan... OMIM:619725
Legius Syndrome
Ovarian neoplasm, Male urethral meatus stenosis, Acute monocytic leukemia, Desmoid tumors, Nephro... ORPHA:137605
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... ORPHA:44890
Waldenström Macroglobulinemia
Malabsorption, Hepatomegaly, Splenomegaly, Normocytic anemia, Lymphoma, Abnormality of neutrophil... ORPHA:33226
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Anxiety, Motor stereotypy, Impaired social interactions ORPHA:168782
Lhermitte-Duclos Disease
Ataxia, Enlarged cerebellum ORPHA:65285
Multiple Endocrine Neoplasia Type 2
Medullary thyroid carcinoma, Neuroma, Neoplasm of the liver, Parathyroid adenoma, Paraganglioma o... ORPHA:653
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, Aggressive behavior OMIM:239500
Blepharochalasis And Double Lip
Goiter OMIM:109900
Parathyroid Carcinoma
Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Parathyroid carcinoma, Prim... ORPHA:143
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, B lymphocytopenia, T lymphocytopenia, Squamous cell carcinoma, Ver... ORPHA:217390
Mccune-Albright Syndrome
Abnormal endocrine physiology, Pancreatitis, Benign gastrointestinal tract tumors, Ovarian cyst, ... ORPHA:562
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, Stereotypical hand wringing, Chorea OMIM:618760
Tuberous Sclerosis Complex
Subependymal nodules, Pituitary adenoma, Cortical tubers, Parathyroid adenoma, Carcinoid tumor, P... ORPHA:805
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Thrombocytosis, Myelodysplasia, Acute myeloid leukemia ORPHA:71493
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Gonadal calcification, Basal cell carcinoma, Ovarian fibroma,... ORPHA:314473
Porphyria Due To Ala Dehydratase Deficiency
Increased fecal coproporphyrin 3, Myeloproliferative disorder, Abnormal erythrocyte enzyme level ORPHA:100924
Fanconi Anemia, Complementation Group E
Neutropenia, Hypergonadotropic hypogonadism, Anemia, Thrombocytopenia, Pancytopenia, Cryptorchidi... OMIM:600901
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Tremor, Motor stereotypy, Aggressive behavior OMIM:619470
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:95716
Carney-Stratakis Syndrome
Intestinal obstruction, Paraganglioma, Gastrointestinal stroma tumor ORPHA:97286
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Classic Mycosis Fungoides
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoma, Abnormal lymphocyte morphology, ... ORPHA:2584
Granulomatous Slack Skin
Hodgkin lymphoma, Lymphoma, Abnormality of the lymph nodes ORPHA:33111
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Multiple Endocrine Neoplasia, Type Iib
Medullary thyroid carcinoma, Pheochromocytoma, Elevated calcitonin, Nodular goiter, Ganglioneurom... OMIM:162300
Pendred Syndrome
Hypothyroidism, Hyperparathyroidism, Goiter, Thyroid carcinoma ORPHA:705
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Inherited Creutzfeldt-Jakob Disease
Gait ataxia, Progressive cerebellar ataxia, Chorea, Astrocytosis ORPHA:282166
Xeroderma Pigmentosum Variant
Squamous cell carcinoma, Melanoma, Basal cell carcinoma ORPHA:90342
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology, Memory impairment ORPHA:99013
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Cryptorchidism, Thick eyebrow, Myeloid leukemia ORPHA:404443
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Glioma, Cleft palate, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteos... ORPHA:790
Rhabdoid Tumor
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Thrombocytopenia, ... ORPHA:69077
Oligodontia-Colorectal Cancer Syndrome
Adenomatous colonic polyposis, Sparse scalp hair, Fundic gland polyposis, Absent eyebrow, Breast ... OMIM:608615
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Self-injurious behavior, Hyperkinetic movements, Choreoathetosis, Invol... OMIM:618218
Immunodeficiency 64
B-cell lymphoma, Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresp... OMIM:618534
Oncogenic Osteomalacia
Giant cell tumor of bone, Neurofibromas, Osteosarcoma, Neoplasm of head and neck, Neoplasm of the... ORPHA:352540
Immunodeficiency 105
B-cell lymphoma, Lymphopenia, Hepatosplenomegaly, Absence of lymph node germinal center, T lympho... OMIM:619924
Ataxia-Telangiectasia
Hodgkin lymphoma, Lymphopenia, Hypoplasia of the thymus, Non-Hodgkin lymphoma, Lymphoma, T lympho... OMIM:208900
Immunodeficiency, Common Variable, 2
Neoplasm, Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphoma, Lymphadenopathy OMIM:240500
Fanconi Anemia, Complementation Group A
Neutropenia, Hypergonadotropic hypogonadism, Anemia, Thrombocytopenia, Pancytopenia, Cryptorchidi... OMIM:227650
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Lymphoproliferative Syndrome 2
Hodgkin lymphoma, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymphoproliferative disorder, Hep... OMIM:615122
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Self-injurious behavior, Anxiety, Speech apraxia, Aggressive behavior OMIM:613670
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphoprol... OMIM:609981
Neurofibromatosis Type 1
Neoplasm, Chronic myelogenous leukemia, Precocious puberty, Plexiform neurofibroma, Abnormal hair... ORPHA:636
Atypical Rett Syndrome
Poor eye contact, Hand apraxia, Pill-rolling tremor, Panic attack, Stereotypical hand wringing, T... ORPHA:3095
46,Xy Sex Reversal 6
Chordee, Sex reversal, Hirsutism, Sparse axillary hair, Hypospadias, Clitoral hypertrophy, Dysger... OMIM:613762
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Enlarged cerebellum ORPHA:477993
Dyskeratosis Congenita, X-Linked
Alopecia, Pancytopenia, Bone marrow hypocellularity, Carcinoma, Decreased testicular size, Anemia... OMIM:305000
Polycythemia Vera
Hepatomegaly, Splenomegaly, Myelodysplasia, Portal hypertension, Gastrointestinal hemorrhage, Acu... ORPHA:729
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia OMIM:618709
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Sparse a... ORPHA:99429
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Autoimmune thrombocytopenia, Absence of lymph ... OMIM:608184
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia OMIM:617830
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Enlarged cerebellum OMIM:620047
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Lym... OMIM:615559
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Rothmund-Thomson Syndrome Type 1
Neutropenia, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Anemia, Melanoma, Sparse or absent e... ORPHA:221008
Liposarcoma
Sarcoma ORPHA:69078
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Lymphoma, Lisch nodules, Colon cancer, T-cell lymphoma, Glioblastoma mult... OMIM:619097
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity, Irritability ORPHA:500545
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Decreased serum e... OMIM:615723
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Gastric varix OMIM:613490
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... ORPHA:97289
Leydig Cell Hypoplasia
Decreased serum testosterone concentration, Cryptorchidism, Abnormal external genitalia, Abnormal... ORPHA:755
Fanconi Anemia, Complementation Group C
Neutropenia, Hypergonadotropic hypogonadism, Anemia, Thrombocytopenia, Pancytopenia, Bone marrow ... OMIM:227645
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis OMIM:611087
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hematochezia, Glossitis, Protein-losing enteropathy, Anemia, Gastroint... OMIM:175500
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphoma, Anemia, Lymphadenopathy ORPHA:37748
Epidermodysplasia Verruciformis, X-Linked
Squamous cell carcinoma of the skin, Verrucae OMIM:305350
Rothmund-Thomson Syndrome Type 2
High palate, Sparse hair, Cleft palate, Aplasia/Hypoplasia of the eyebrow, Anemia, Melanoma, Spar... ORPHA:221016
Bloom Syndrome
Recurrent gastroenteritis, Abnormal proportion of CD8-positive T cells, Stomach cancer, Abscess, ... ORPHA:125
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae, Lymphopenia, T lymphocytopenia OMIM:618309
Large Congenital Melanocytic Nevus
Neoplasm, Generalized hirsutism, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin ORPHA:626
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Pelizaeus-Merzbacher Disease
Reduction of oligodendroglia, Ataxia, Choreoathetosis, Cerebellar vermis atrophy OMIM:312080
Sweet Syndrome
Neoplasm, Neutrophilia, Breast carcinoma, Leukocytosis, Sterile abscess, Inflammation of the larg... ORPHA:3243
Congenital Factor Xiii Deficiency
Myeloid leukemia, Inflammation of the large intestine ORPHA:331
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia OMIM:225250
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Compensated hypothyroidism, E... OMIM:274300
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Abnormal abdomen morphology, Graves disease, Increas... OMIM:275000
Hsd10 Disease
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Tremor, Choreoathetosis ORPHA:391417
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Anxiety, Parkinsonism, Hyperkinetic movements, Chorea, Tremor,... OMIM:619738
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Aplastic anemia, Macrocytic anemia,... ORPHA:811
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Bone Marrow Failure Syndrome 3
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Aplastic anemia, Nail dystrophy, Pancytopenia, Bo... OMIM:617052
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Happy demeanor, Ataxia, Poor eye contact, Limb ataxia, Poor coordination, Spast... OMIM:617695
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin, Sex reversal ORPHA:85112
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... OMIM:615234
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Nephroblastoma
Neoplasm, Neoplasm of the liver, Nephroblastoma, Neoplasm of the lung, Lymphadenopathy ORPHA:654
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Enlarged cerebellum ORPHA:85165
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Lymphangioma, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyroid gland,... ORPHA:137608
Foxg1 Syndrome
Motor stereotypy, Poor eye contact, Myoclonus, Hyperkinetic movements, Stereotypical hand wringin... ORPHA:561854
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Hepatomega... ORPHA:417
Congenital Hypothyroidism
Abnormality of the thyroid gland, Prolonged neonatal jaundice, Macroglossia, Thyroid dysgenesis, ... ORPHA:442
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Babinski sign, Spastic dysarthria, Progressive spastic paraplegia, Shyness, Spa... ORPHA:280763
Classic Hodgkin Lymphoma
Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... ORPHA:64744
Nijmegen Breakage Syndrome
Anal atresia, B-cell lymphoma, Neoplasm, Glioma, Abnormal hair morphology, Abnormal hair quantity... ORPHA:647
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Bloom Syndrome
Hypertrichosis, Elevated hemoglobin A1c, Lymphoma, Squamous cell carcinoma, Azoospermia, Cryptorc... OMIM:210900
Pediatric-Onset Graves Disease
Graves disease, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly,... ORPHA:525731
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Abnormality of the thymus OMIM:208910
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Anxiety, Aggressive behavior, Gait ataxia OMIM:609425
Down Syndrome
Anal atresia, Type II diabetes mellitus, Narrow palate, Macroglossia, Abnormality of the lymphati... ORPHA:870
Mosaic Variegated Aneuploidy Syndrome 1
Cleft palate, Bifid scrotum, Micropenis, Hypospadias, Nephroblastoma, Rhabdomyosarcoma, Ambiguous... OMIM:257300
Nevus Comedonicus Syndrome
Hamartoma, Spina bifida, Spina bifida occulta ORPHA:64754
Myxedema
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Goiter OMIM:255900
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Bangstad Syndrome
Pancytopenia, Goiter, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency OMIM:210740
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Self-injurious behavior, Stereotypical hand wringing, Chorea, Gait ataxia, Spas... OMIM:618917
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... OMIM:275200
Intellectual Developmental Disorder With Autism And Macrocephaly
Reduced use of typical gestures, Clumsiness, Recurrent hand flapping, Pronoun reversal, Anxiety OMIM:615032
Fanconi Anemia, Complementation Group D2
Annular pancreas, Neutropenia, Micropenis, Hypergonadotropic hypogonadism, Anemia, Tracheoesophag... OMIM:227646
Necrobiosis Lipoidica
Squamous cell carcinoma, Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Thyrocerebroretinal Syndrome
Goiter, Thrombocytopenia OMIM:274240
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Squamous cell carcinoma, Absent eyelashes, S... OMIM:602540
Mycosis Fungoides
Lymphadenopathy, Lymphoma, Neoplasm of the skin OMIM:254400
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Streak ovary, B... ORPHA:261529
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Goiter, Thrombocytopenia ORPHA:83601
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Congenital Bile Acid Synthesis Defect Type 1
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic... ORPHA:79301
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes OMIM:608189
17Q11 Microdeletion Syndrome
Optic nerve glioma, Gastrointestinal stroma tumor, Elevated circulating parathyroid hormone level... ORPHA:97685
Werner Syndrome
Ovarian neoplasm, Neoplasm of the small intestine, Neoplasm of the oral cavity, Hypogonadism, Whi... ORPHA:902
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Sparse axillary hair, Male pseudohermaphroditism, Absent pubic hair, S...