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

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/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar... ORPHA:145
Meningioma, Familial, Susceptibility To
Meningioma OMIM:607174
Glioma Susceptibility 2
Oligodendroglioma, Meningioma OMIM:613028
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Adenoma sebaceum, High palate, Colo... ORPHA:201
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Intestinal polyposis, Hepatic steatosis, Penile freckling, Multiple lipomas, L... ORPHA:210548
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Goiter, Meningioma, Fibroa... OMIM:158350
Prostate Cancer
Prostate cancer OMIM:176807
Bannayan-Riley-Ruvalcaba Syndrome
Uterine neoplasm, Abnormal large intestine morphology, Lymphoma, Capillary hemangioma, Meningioma... ORPHA:109
Lhermitte-Duclos Disease
Enlarged cerebellum, Ataxia ORPHA:65285
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Lymphoma, Splenomegaly, Abnormal intestine morphology, Lymphadenopathy, In... ORPHA:397596
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Freckled genitalia, Intestinal bleeding, Gastroi... ORPHA:79076
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Neoplasm of the thyroid gland, Ovarian neoplasm, Hamartoma, Neoplasm of th... ORPHA:137608
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Splenomegaly, Poly... ORPHA:2969
Macrocephaly/Autism Syndrome
Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, High palate, Hydrocele testis OMIM:605309
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Cerebellar dysplasia, Hypoplasia of... ORPHA:101070
Proteus Syndrome
Rib exostoses, Exostosis of the external auditory canal, Visceral angiomatosis, Neoplasm of the c... ORPHA:744

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Pheochromocytoma/Paraganglioma Syndrome 7
Pheochromocytoma, Paraganglioma OMIM:618475
Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma, Neoplasm of the gastrointestinal tract OMIM:606864
Pheochromocytoma/Paraganglioma Syndrome 5
Paraganglioma OMIM:614165
Carcinoid Tumors, Intestinal
Intestinal carcinoid OMIM:114900
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608631
Schwannomatosis 2
Schwannoma, Spinal cord tumor OMIM:615670
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Drug Metabolism, Poor, Cyp2D6-Related
Neoplasm OMIM:608902
Adamantinoma Of Long Bones
Neoplasm OMIM:102660
Cancer, Familial, With In Vitro Radioresistance
Neoplasm OMIM:114450
Nasopharyngeal Carcinoma, Susceptibility To, 2
Neoplasm OMIM:161550
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... OMIM:616415
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Cowden-Like syndrome
Endometrial carcinoma, Papillary thyroid carcinoma, Breast carcinoma, Uterine leiomyoma OMIM:612359
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... ORPHA:157798
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co... OMIM:613244
Hereditary Mixed Polyposis Syndrome
Hematochezia, Intussusception, Refractory anemia, Adenomatous colonic polyposis, Endometrial carc... ORPHA:157794
Autism
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:209850
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:607373
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis OMIM:612591
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Abnormal lymph node morphology, Neoplasm of head and neck, Papillary renal cell carcinoma... ORPHA:97290
Schwannomatosis 1
Vestibular schwannoma, Spinal cord tumor, Peripheral schwannoma, Meningioma OMIM:162091
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Thyroid Cancer, Nonmedullary, 4
Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm OMIM:616534
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Neoplasm of head and neck, ... ORPHA:319487
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... OMIM:114500
N Syndrome
Leukemia, Neoplasm, Hypospadias, Cryptorchidism OMIM:310465
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... ORPHA:523
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... OMIM:168000
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Reduced social reciprocity OMIM:606053
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation OMIM:131440
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer OMIM:619096
Lynch Syndrome
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop... ORPHA:144
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis OMIM:246470
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph... OMIM:605373
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Lymphoma, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropeni... OMIM:614470
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... ORPHA:480536
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar... ORPHA:145
Meningioma, Familial, Susceptibility To
Meningioma OMIM:607174
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal... OMIM:180295
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Restrictive behavior, Inflexible adherence to routin... OMIM:608636
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Mismatch Repair Cancer Syndrome 4
Astrocytoma, Non-Hodgkin lymphoma, Adenomatous colonic polyposis, Glioblastoma multiforme, Colon ... OMIM:619101
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia OMIM:614082
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Lymphadenopathy ORPHA:99977
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid leukemia, Hem... ORPHA:158057
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Multiple cutaneous leiomyoma... OMIM:150800
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukemia, Leukopenia OMIM:620400
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Chemodectoma, Gastrointestinal stroma tumor, Adrenal pheochromocy... OMIM:115310
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Chemodectoma, Neoplasm, Glomus jugular tumor, Glomus tympanicum paraganglioma OMIM:601650
Glioma Susceptibility 2
Oligodendroglioma, Meningioma OMIM:613028
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Adenoma sebaceum, High palate, Colo... ORPHA:201
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Chronic noninfectious lymphadenop... ORPHA:79140
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Lymphoma, Leukopenia, Acute myeloid leukemia, Monocytosis, Myelodysp... OMIM:616871
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia OMIM:252270
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... ORPHA:231401
Testicular Germ Cell Tumor
Choriocarcinoma, Azoospermia, Embryonal neoplasm, Teratoma OMIM:273300
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple linea... ORPHA:98827
Polyposis Syndrome, Hereditary Mixed, 2
Colon cancer, Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic pol... OMIM:610069
Lymphedema, Primary, With Myelodysplasia
Verrucae, Pancytopenia, Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Myelodysplasia OMIM:614038
Intellectual Developmental Disorder, Autosomal Recessive 64
Aggressive behavior, Reduced social reciprocity OMIM:618103
Cowden Syndrome 7
Trichilemmoma, Goiter, Intestinal polyposis, Ductal carcinoma in situ, Hashimoto thyroiditis, Hem... OMIM:616858
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
Mantle Cell Lymphoma
B-cell lymphoma, Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Neutrophilia, Hereditary
Myelodysplasia, Splenomegaly, Neutrophilia OMIM:162830
Maffucci Syndrome
Pituitary adenoma, Multiple enchondromatosis, Goiter, Neoplasm of the parathyroid gland, Breast c... ORPHA:163634
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Myeloid le... OMIM:614743
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Astrocytoma, Breast in... OMIM:617100
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia OMIM:610738
Familial Adenomatous Polyposis 2
Colon cancer, Adenomatous colonic polyposis OMIM:608456
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Neoplasm of the skeletal system,... ORPHA:1332
Carney Complex, Type 1
Palatine myxoma, Pituitary adenoma, Myxoid subcutaneous tumors, Schwannoma, Pheochromocytoma, Thy... OMIM:160980
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Primary Erythromelalgia
Leukemia ORPHA:90026
Ovarian Cancer
Ovarian papillary adenocarcinoma, Breast carcinoma, Dysgerminoma OMIM:167000
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, B lymphocytopenia, Myelo... OMIM:614172
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypopl... OMIM:619151
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperplasia, Male p... ORPHA:90790
Birt-Hogg-Dube Syndrome 1
Cutaneous leiomyoma, Colon cancer, Cutaneous leiomyosarcoma, Multiple lipomas, Large intestinal p... OMIM:135150
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
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Gonadoblastoma
Gonadoblastoma OMIM:424500
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Neoplasm, Sple... ORPHA:2930
Glioma Susceptibility 3
T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas... OMIM:613029
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Myelodysplasia, Abnormal... ORPHA:86841
Full Schwannomatosis
Peripheral schwannoma, Meningioma, Lumbosacral hemangioma, Schwannoma, Neoplasm, Neoplasm of the ... ORPHA:93921
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Gangl... ORPHA:251992
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Intestinal polyposis, Hepatic steatosis, Penile freckling, Multiple lipomas, L... ORPHA:210548
Thyroid Lymphoma
Lymphoma, Goiter, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Lymphadenopathy, Dysphagia ORPHA:97285
Adenocarcinoma Of The Esophagus
Barrett esophagus, Esophageal carcinoma, Lymphadenopathy, Gastroesophageal reflux ORPHA:99976
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Teratoma, Pineal
Abnormal abdomen morphology, Teratoma OMIM:273120
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Hypogonadism, Abnormal stomach morphology, Cryptorchidism, Testicular seminoma ORPHA:281090
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Gonadal dysgenesis OMIM:615041
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Bone marrow hypocellularity, Anal atresia, T-cell acute lymphoblastic leu... OMIM:605724
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Desmoid Tumor
Neoplasm of the skin, Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, ... ORPHA:873
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Emotional lability, Agitation OMIM:617171
Mismatch Repair Cancer Syndrome 1
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... OMIM:276300
Combined Oxidative Phosphorylation Deficiency 38
Depressed nasal bridge, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synt... OMIM:618378
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
High, narrow palate, Endometrial carcinoma, Thick eyebrow, Melanoma, Breast carcinoma ORPHA:457212
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Gestational Choriocarcinoma
Choriocarcinoma, Trophoblastic tumor, Neoplasm ORPHA:99926
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Emotional blunting, Motor stereo... OMIM:172700
Von Hippel-Lindau Syndrome
Retinal capillary hemangioma, Pancreatic cysts, Pheochromocytoma, Paraganglioma, Renal cell carci... OMIM:193300
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neop... ORPHA:440437
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Uterine neoplasm, Intestinal bleeding, Intussusception, Ovarian cyst,... OMIM:175200
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:616435
Anaplastic Thyroid Carcinoma
Goiter, Neoplasm of the skeletal system, Tracheoesophageal fistula, Lymphadenopathy, Dysphagia, N... ORPHA:142
Testicular Germ Cell Tumor 1
Germ cell neoplasia OMIM:300228
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Bone marrow hypocellularity, Gastroesophageal reflux, Aplastic anemia, Pancytopenia, Cirrhosis, M... OMIM:614742
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Multiple pancreatic beta-ce... OMIM:147630
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Immunodeficiency 75 With Lymphoproliferation
Lymphoma, Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memo... OMIM:619126
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta... ORPHA:247798
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Goiter, Meningioma, Fibroa... OMIM:158350
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Squamous cell carcinoma, Aplasia/Hypoplasia of the eyebrow, Basal cell car... ORPHA:50944
Gastric Cancer
Stomach cancer OMIM:613659
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608049
Solitary Fibrous Tumor
Uterine neoplasm, Genital neoplasm, Vaginal neoplasm, Neoplasm, Prostate cancer, Soft tissue neop... ORPHA:2126
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Prostate Cancer
Prostate cancer OMIM:176807
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma, Verrucae OMIM:618267
Cowden Syndrome 6
Varicocele, Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Goiter, Meningioma, Fibroa... OMIM:615109
Hirschsprung Disease
Functional abnormality of the gastrointestinal tract, Neoplasm of the thyroid gland, Intestinal p... ORPHA:388
Thyroid Dyshormonogenesis 2A
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... OMIM:274500
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Barth Syndrome
Endocardial fibroelastosis, Dilated cardiomyopathy, Abnormal mitochondrial morphology ORPHA:111
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis, Myelody... ORPHA:3318
Turcot Syndrome With Polyposis
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... ORPHA:99818
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Astrocytosis ORPHA:100070
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor... OMIM:158320
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymphadenopathy ORPHA:66661
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased mitoc... ORPHA:457050
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Decreased liver function, Ascites, Hepatosplenomegaly, Pancytopenia,... ORPHA:98850
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... OMIM:171400
Peutz-Jeghers Syndrome
Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplasm of the rectum, Rectal pro... ORPHA:2869
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... OMIM:188570
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Aggressive behavior, Abnormal mitochondrial morphology, Progressive ... OMIM:300438
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Neoplasm of head and neck, ... ORPHA:99867
Familial Melanoma
Abnormality of the lymphatic system, Melanoma, Neoplasm of the stomach, Neoplasm of the breast, N... ORPHA:618
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Splenomegaly, B-cell lymphoma, Lymphadenopathy, Hepatomegaly, Breast carcinoma ORPHA:86893
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Myelodysplasia, Recurrent infection of the gastrointestinal tract, ... ORPHA:486
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Cowden Syndrome 5
Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Goiter, Meningioma, Furrowed tongue, O... OMIM:615108
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Systemic Mastocytosis With Associated Hematologic Neoplasm
Chronic lymphatic leukemia, Hematological neoplasm, Acute myeloid leukemia, Neutrophilia, Hepatom... ORPHA:98849
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Lig4 Syndrome
Acute leukemia, Lymphoma, Pancytopenia, Type II diabetes mellitus, Cryptorchidism, Leukocytosis, ... ORPHA:99812
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Uterine neoplasm, Gastroesophageal reflux, Vaginal neoplasm, Diffuse leiomyomatosis, Vulvar neopl... ORPHA:1018
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Myelodysplasia OMIM:185050
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm, Abnormal salivary gland morphology ORPHA:1221
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Nail dystrophy, Ovo... OMIM:610644
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Reduced social reciprocity ORPHA:329249
Chilblain Lupus
Chronic myelomonocytic leukemia ORPHA:90280
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypoplastic labia minora, Teratoma, Facial hemangioma, Hypoplastic nipples, Hepato... OMIM:269150
Nasu-Hakola Disease
Functional abnormality of the gastrointestinal tract, Acute leukemia ORPHA:2770
Immunodeficiency 84
Perianal abscess, B-cell lymphoma, Splenomegaly, B lymphocytopenia OMIM:619437
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy, Reduced social reciprocity OMIM:617820
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Alpha-Heavy Chain Disease
Lymphoma, Ascites, Abnormal small intestine morphology, Splenomegaly, Anemia, Lymphadenopathy, He... ORPHA:100025
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma OMIM:615593
Desmoplastic Small Round Cell Tumor
Ileus, Lymphadenopathy, Testicular neoplasm, Anemia, Sarcoma, Ovarian neoplasm, Mediastinal lymph... ORPHA:83469
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Chronic myelomonocytic leukemia, Acute myeloid leukemia OMIM:616604
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L... ORPHA:514
Immunodeficiency 76
Lymphopenia, Splenomegaly, B-cell lymphoma, Lymphadenopathy, B lymphocytopenia, Colitis, T lympho... OMIM:619164
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... ORPHA:543
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Neoplasm of the pancreas, Brain ne... ORPHA:370348
Duplication Of The Pituitary Gland
Volvulus, Teratoma, Cleft palate, Abnormal pituitary gland morphology ORPHA:314621
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Hodgkin lymphoma, Lymphadenopathy, Lymphop... OMIM:618261
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Renal angiomyolipoma, Carcinoid tumor, Elevated circulati... OMIM:610755
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy OMIM:617270
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Decreased... OMIM:300853
Spastic Paraplegia Type 7
Memory impairment, Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibe... ORPHA:99013
Huntington Disease
Mental deterioration, Memory impairment, Depression, Oral-pharyngeal dysphagia, Hostility, Abnorm... ORPHA:399
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Inappropriate behavior OMIM:600795
Hemihyperplasia, Isolated
Myelomeningocele, Embryonal neoplasm, Nephroblastoma OMIM:235000
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... ORPHA:329971
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Hirsutism, Ambiguous gen... ORPHA:206484
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating prolactin conc... ORPHA:1359
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, B-cell lymphoma, Increased proportion of t... OMIM:616005
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... OMIM:619824
Subependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251639
Ependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251636
Phakomatosis Pigmentokeratotica
Precocious puberty, Cutaneous melanoma, Pheochromocytoma, Cryptorchidism, Nephroblastoma, Hemangi... ORPHA:2874
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Gait ataxia, Ataxia, Basal ganglia gliosis, Choreoathetosis ORPHA:225154
Grfoma
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... ORPHA:97261
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Juvenile Polyposis Syndrome
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intestinal polyposis... ORPHA:2929
Pyoderma Gangrenosum
Inflammation of the large intestine, Myelodysplasia, Myeloid leukemia ORPHA:48104
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Ollier Disease
Precocious puberty, Neoplasm, Hemangioma, Anemia, Sarcoma, Multiple enchondromatosis, Visceral an... ORPHA:296
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Ataxia ORPHA:204
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Bruxism, Inappropriate laughter, Motor stereotypy, Aggressive behavior OMIM:619150
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, ... ORPHA:79456
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma, Recurrent cutaneous abscess formation OMIM:613736
Kleine-Levin Syndrome
Transient global amnesia, Depression, Polydipsia, Parosmia, Confusion, Abnormal eating behavior, ... ORPHA:33543
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Neoplasm of the skin, Cholelithiasis, Male hypogonadism, Alopec... ORPHA:273
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Currarino Syndrome
Bifid scrotum, Abnormal intestine morphology, Male pseudohermaphroditism, Hypoplasia of penis, Hy... ORPHA:1552
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Cryptorchidism, Low posterior hairline, Curly hair, Long eyebro... OMIM:613224
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Micropenis, Leukemia, Myelodysplasia OMIM:619951
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Neoplasm of the la... ORPHA:100083
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Lymphoproliferat... ORPHA:90033
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Cranial nerve compression, Adrenal pheochromocytoma, Paraganglioma... ORPHA:276621
Retinoblastoma
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Cleft palate, Osteosarcoma OMIM:180200
Hereditary Pheochromocytoma-Paraganglioma
Retinal capillary hemangioma, Extraadrenal pheochromocytoma, Cranial nerve compression, Arachnoid... ORPHA:29072
Punctate Palmoplantar Keratoderma Type 1
Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Nail dys... ORPHA:79501
Carney Triad
Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tumor, Le... ORPHA:139411
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma OMIM:171420
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Lymphadeno... OMIM:619375
Aicardi Syndrome
Precocious puberty, Metastatic angiosarcoma, Teratoma, Hiatus hernia, Hemangioma, Hepatoblastoma,... OMIM:304050
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232
Ring Chromosome 12 Syndrome
High, narrow palate, Dystrophic toenail, Glandular hypospadias, Breast hypoplasia, Cryptorchidism... ORPHA:1439
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... ORPHA:424019
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Glucagonoma, Neoplasm of the pancreas ORPHA:438274
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Irritability, Disinhibition, Aggressive behavior, E... ORPHA:275864
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Diffuse leiomyomatosis, Hirsutism, Abnormal endo... ORPHA:314478
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Juvenile Nasopharyngeal Angiofibroma
Juvenile colonic polyposis, Juvenile nasopharyngeal angiofibroma ORPHA:289596
Dermatofibrosarcoma Protuberans
Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Progressive Osseous Heteroplasia
Sarcoma, Abnormality of the parathyroid gland ORPHA:2762
Lig4 Syndrome
Pancytopenia, Myelodysplasia, Cryptorchidism, Low anterior hairline, Thrombocytopenia, Micropenis... OMIM:606593
Progressive Multifocal Leukoencephalopathy
Somatic sensory dysfunction, Abnormal astrocyte morphology, Paresthesia, Gait ataxia, Dysmetria, ... ORPHA:217260
Bannayan-Riley-Ruvalcaba Syndrome
Uterine neoplasm, Abnormal large intestine morphology, Lymphoma, Capillary hemangioma, Meningioma... ORPHA:109
Infantile Myofibromatosis
Neoplasm of the skin, Abnormal hair morphology, Benign neoplasm of the central nervous system, In... ORPHA:2591
Neurofibromatosis, Type I
Neurofibroma, Meningioma, Rhabdomyosarcoma, Pheochromocytoma, Plexiform neurofibroma, Astrocytoma... OMIM:162200
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Acquired Hypertrichosis Lanuginosa
Neoplasm of the respiratory system, Fine hair, Abnormal eyebrow morphology, Neoplasm, Generalized... ORPHA:2221
Schinzel-Giedion Syndrome
Central hypothyroidism, Annular pancreas, Anteriorly placed anus, Streak ovary, Ependymoma, Terat... ORPHA:798
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Nail dystrophy, Carcinoma OMIM:615225
Dna2-Related Mitochondrial Dna Deletion Syndrome
Depression, Decreased mitochondrial number, Multiple joint contractures, Myopathy, Limb-girdle mu... ORPHA:352470
Pheochromocytoma
Pheochromocytoma, Neoplasm, Hemangioma OMIM:171300
Follicular Lymphoma
Lymphoma, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphadenopathy ORPHA:545
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypospadias, Hemangioma, Intestinal polyp, Cryptorchidism ORPHA:457485
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Gray Platelet Syndrome
Myelodysplasia, Splenomegaly, Thrombocytopenia ORPHA:721
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Neurofibroma, Intestinal obstruction OMIM:606764
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Esophageal neoplasm, Neoplasm of the small in... ORPHA:44890
Mosaic Variegated Aneuploidy Syndrome
Ascites, Vaginal neoplasm, Stomach cancer, Acute lymphoblastic leukemia, Myelodysplasia, Nephrobl... ORPHA:1052
Benign Schwannoma
Peripheral schwannoma, Schwannoma, Abnormality of the liver, Vestibular schwannoma, Intestinal po... ORPHA:252164
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Intestinal pseudo-ob... ORPHA:1333
Frontotemporal Dementia With Motor Neuron Disease
Depression, Disinhibition, Frontotemporal dementia, Abnormal mitochondrial morphology, Dysphagia,... ORPHA:275872
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Immunodeficiency 104
Gastroesophageal reflux, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia OMIM:608971
Hyperparathyroidism-Jaw Tumor Syndrome
Peptic ulcer, Renal hamartoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Thyroi... ORPHA:99880
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Mccune-Albright Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Cholestasis,... ORPHA:562
Neurofibromatosis Type 1
Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Precocious puberty, Pl... ORPHA:636
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Neoplasm, Splenomegaly, Hepatomegaly, Jaundice ORPHA:172
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p... ORPHA:653
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carci... OMIM:145001
Tatton-Brown-Rahman Syndrome
Thick eyebrow, Neuroendocrine neoplasm, Cryptorchidism, Myeloid leukemia ORPHA:404443
Tuberous Sclerosis Complex
Pituitary adenoma, Ungual fibroma, Pheochromocytoma, Cardiac rhabdomyoma, Retinal astrocytic hama... ORPHA:805
Parathyroid Carcinoma
Peptic ulcer, Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathy... ORPHA:143
46,Xy Sex Reversal 6
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Hirsutism, Sparse axillary hair, Chordee,... OMIM:613762
Blepharochalasis And Double Lip
Goiter OMIM:109900
Legius Syndrome
Acute monocytic leukemia, Male urethral meatus stenosis, Vestibular schwannoma, Nephroblastoma, M... ORPHA:137605
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Facial papilloma, Autoimmune hemolytic anemia, Lymphadenopathy, Neutrop... OMIM:619220
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Type II diabetes mellitus... OMIM:274300
Lhermitte-Duclos Disease
Enlarged cerebellum, Ataxia ORPHA:65285
Combined Immunodeficiency Due To Dock8 Deficiency
Verrucae, Squamous cell carcinoma of the vulva, Squamous cell carcinoma, B lymphocytopenia, T lym... ORPHA:217390
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Thrombocytosis, Myelodysplasia ORPHA:71493
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Odontogenic keratocysts of the ... ORPHA:314473
Pendred Syndrome
Hyperparathyroidism, Hypothyroidism, Thyroid carcinoma, Goiter ORPHA:705
Childhood Disintegrative Disorder
Abnormal emotion, Motor stereotypy, Reduced social reciprocity ORPHA:168782
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Hodgkin lymphoma, Generalized lymphadenopathy, Absent circulating B c... OMIM:620282
Isolated Hemihyperplasia
Myelomeningocele, Cryptorchidism, Nephroblastoma ORPHA:2128
Fanconi Anemia, Complementation Group E
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... OMIM:600901
Dyskeratosis Congenita, X-Linked
Premature graying of hair, Pancytopenia, Cryptorchidism, Sparse eyelashes, Hodgkin lymphoma, Acut... OMIM:305000
Oncogenic Osteomalacia
Neurofibroma, Neoplasm of head and neck, Neoplasm of the skeletal system, Giant cell tumor of bon... ORPHA:352540
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Porphyria Due To Ala Dehydratase Deficiency
Abnormal erythrocyte enzyme concentration or activity, Myeloproliferative disorder, Increased fec... ORPHA:100924
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Colon cancer, Sparse body hair, Fundic gland polyposis, Sparse axillary hair, ... OMIM:608615
Waldenström Macroglobulinemia
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Lymphoma... ORPHA:33226
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Inherited Creutzfeldt-Jakob Disease
Chorea, Astrocytosis, Gait ataxia, Progressive cerebellar ataxia ORPHA:282166
Granulomatous Slack Skin
Hodgkin lymphoma, Lymphoma, Abnormal lymph node morphology ORPHA:33111
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Melanoma, Squamous cell carcinoma ORPHA:90342
Mismatch Repair Cancer Syndrome 3
Lymphoma, Astrocytoma, Neoplasm of the rectum, Lisch nodules, T-cell lymphoma, Glioblastoma multi... OMIM:619097
Retinoblastoma
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... ORPHA:790
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Classic Mycosis Fungoides
Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He... ORPHA:2584
Ataxia-Telangiectasia
Lymphoma, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count... OMIM:208900
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Decreased muscle mass... ORPHA:263297
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Lymphoma, Splenomegaly, Abnormal intestine morphology, Lymphadenopathy, In... ORPHA:397596
Immunodeficiency 54
Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo... OMIM:609981
Schopf-Schulz-Passarge Syndrome
Poroma, Apocrine hidrocystoma, Sparse body hair, Nail dystrophy, Squamous cell carcinoma, Basal c... OMIM:224750
Multiple Endocrine Neoplasia, Type Iib
Elevated circulating calcitonin concentration, Pheochromocytoma, Ganglioneuroma, Medullary thyroi... OMIM:162300
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Cryptorchidism, Nephroblastoma, Embryonal rhabdomyosarcoma, Ambiguous genitalia, M... OMIM:257300
Fanconi Anemia, Complementation Group A
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... OMIM:227650
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis, Gastric varix, ... OMIM:613490
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Dysphagia, Emotional lability, Disinhibition OMIM:612069
Neural Tube Defects, Susceptibility To
Lipoma, Myelomeningocele, Multiple lipomas, Hydrocephalus, Spina bifida occulta, Anencephaly OMIM:182940
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Renal neoplasm, Sarcoma, Neopla... ORPHA:69077
Thymic Neuroendocrine Tumor
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... ORPHA:97289
Bloom Syndrome
Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Abscess, Abnormal proportion of CD8-... ORPHA:125
46,Xy Sex Reversal 7
Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon... OMIM:233420
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618709
Liposarcoma
Sarcoma ORPHA:69078
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Complete Androgen Insensitivity Syndrome
Sparse pubic hair, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Abno... ORPHA:99429
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Lymphoma, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomeg... OMIM:615122
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Lymphoma, Neoplasm, Follicular hyperplasia, Splenomegaly, Lymphadenopathy,... OMIM:240500
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Enlarged cerebellum ORPHA:477993
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Recurrent infection of the gastrointestinal tract, Myelody... OMIM:608184
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Generalized hirsutism, Sarcoma, Rhabdomyosarcoma ORPHA:626
Graves Disease
Graves disease, Abnormal abdomen morphology, Goiter, Increased circulating free T3, Increased cir... OMIM:275000
Leydig Cell Hypoplasia
Male hypogonadism, Breast aplasia, Hypoplasia of the Leydig cells, Abnormal external genitalia, A... ORPHA:755
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Bruxism, Paroxysmal bursts of laughter, Hyperactivity, Motor stereotypy OMIM:618718
Bloom Syndrome
Lymphoma, Hypertrichosis, Azoospermia, Cryptorchidism, Squamous cell carcinoma, Leukemia, Elevate... OMIM:210900
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis OMIM:611087
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia... OMIM:227645
Rothmund-Thomson Syndrome Type 1
Sparse hair, Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Hypogonadism, Alopecia ... ORPHA:221008
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of ... OMIM:620189
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphoma, Neoplasm, Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:391
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Lymphoma, Abnormal dense granule content, Abnormal platelet shape, Acut... OMIM:601399
Schnitzler Syndrome
Lymphoma, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:37748
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Lymphopenia, Verrucae, T lymphocytopenia OMIM:618309
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Motor stereotypy, Dysphagia OMIM:617862
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Myeloid leukemia ORPHA:331
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Portal hypertension, Leukocytosis, Spl... ORPHA:729
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... OMIM:225250
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Rothmund-Thomson Syndrome Type 2
Sparse hair, Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Lymphoma, Alopecia tota... ORPHA:221016
Pelizaeus-Merzbacher Disease
Cerebellar vermis atrophy, Reduction of oligodendroglia, Choreoathetosis, Ataxia OMIM:312080
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentration, Splenomega... ORPHA:417
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Enlarged cerebellum ORPHA:85165
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin, Sex reversal ORPHA:85112
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Thyroid hypoplasia, Inappropriately normal thyroid-stimulating hormone le... OMIM:301035
Sweet Syndrome
Inflammation of the large intestine, Neoplasm, Leukocytosis, Chronic lymphatic leukemia, Hematolo... ORPHA:3243
Nephroblastoma
Neoplasm, Nephroblastoma, Neoplasm of the liver, Lymphadenopathy, Neoplasm of the lung ORPHA:654
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Increased circulating T4 concentration, Increased circulating free T4 concentration, Hype... OMIM:613239
Microcephaly 29, Primary, Autosomal Recessive
Enlarged cerebellum, Ataxia OMIM:620047
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... ORPHA:811
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Ascite... ORPHA:2198
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Graves disease, Goiter, Puberty and gona... ORPHA:525731
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Gastrointestinal carcinoma, Hematochezia, Xerostomia, Anemia, Glossit... OMIM:175500
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Igg4-Related Thyroid Disease
Graves disease, Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing chol... ORPHA:64744
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Paraganglioma, Intestinal obstruction ORPHA:97286
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hyposmia, Torticollis OMIM:613724
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Bangstad Syndrome
Pancytopenia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Goiter OMIM:210740
Down Syndrome
Narrow palate, Macroglossia, Gastroesophageal reflux, Polycythemia, Type II diabetes mellitus, Pr... ORPHA:870
Nijmegen Breakage Syndrome
Acute leukemia, Anal stenosis, Glioma, Lymphoma, Abnormal hair morphology, Anorectal anomaly, Neo... ORPHA:647
Nevus Comedonicus Syndrome
Spina bifida occulta, Hamartoma, Spina bifida ORPHA:64754
Ring Chromosome Y Syndrome
Male hypogonadism, Abnormality of the male genitalia, Bifid scrotum, Gonadal dysgenesis, Perineal... ORPHA:261529
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... OMIM:617052
Werner Syndrome
Neoplasm of the oral cavity, Premature graying of hair, White forelock, Melanoma, Renal neoplasm,... ORPHA:902
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Anemia, Reticulocyto... OMIM:227646
Middle Ear Neuroendocrine Tumor
Facial palsy, Neuroendocrine neoplasm, Carcinoid tumor ORPHA:100084
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Sparse eyelashes, Absent eyelashes, Squamous cell carcinoma, Scarring alopecia of... OMIM:602540
Fibular Dimelia-Diplopodia Syndrome
Sacrococcygeal teratoma ORPHA:1757
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Thrombocytopenia ORPHA:83601
Necrobiosis Lipoidica
Squamous cell carcinoma, Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Mycosis Fungoides
Neoplasm of the skin, Lymphadenopathy, Lymphoma OMIM:254400
N-Acetylaspartate Deficiency
Motor stereotypy, Self-mutilation OMIM:614063
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Freckled genitalia, Intestinal bleeding, Gastroi... ORPHA:79076
17Q11 Microdeletion Syndrome
Glioma, Brainstem glioma, Brain neoplasm, Leukemia, Cerebellar glioma, Precocious puberty, Plexif... ORPHA:97685
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Neuroblastoma, Susceptibility To, 2
Ganglioneuroma, Ganglioneuroblastoma, Neuroblastoma OMIM:613013
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Ascher Syndrome
High palate, Hypothyroidism, Goiter ORPHA:1253
Beckwith-Wiedemann Syndrome
Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal pancreas morp... ORPHA:116
Fanconi Anemia, Complementation Group N
Aplastic anemia, Medulloblastoma, Nephroblastoma, Acute myeloid leukemia, Neuroblastoma, Anal atr... OMIM:610832
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Neoplasm of the thyroid gland, Ovarian neoplasm, Hamartoma, Neoplasm of th... ORPHA:137608
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Developmental And Epileptic Encephalopathy 58
Motor stereotypy OMIM:617830
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Thyrocerebrorenal Syndrome
Thrombocytopenia, Euthyroid goiter ORPHA:3327
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Elevated circulating catecholamine level, Endolymphatic sac tumor, ... ORPHA:892
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, Weakn... ORPHA:352447
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Lymphoma, Pancytopenia... OMIM:308240
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Proteus Syndrome
Splenomegaly, Multiple lipomas, Hemangioma, Lipoma, Lymphangioma OMIM:176920
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7