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Gene: Pten MGI:109583

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.

Human diseases associated with Pten (16 diseases)
Human diseases predicted to be associated with Pten (1313 diseases)

The table below shows human diseases associated to Pten by orthology or direct annotation.

Disease	Matching phenotypes	Source
Hereditary Breast And/Or Ovarian Cancer Syndrome	Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal...	ORPHA:145
Meningioma, Familial, Susceptibility To	Meningioma	OMIM:607174
Glioma Susceptibility 2	Oligodendroglioma, Meningioma	OMIM:613028
Cowden Syndrome	Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma...	ORPHA:201
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid c...	ORPHA:210548
Prostate Cancer	Prostate cancer	OMIM:176807
Cowden Syndrome 1	Colonic diverticula, Hyperthyroidism, Goiter, Fibroadenoma of the breast, Thyroiditis, Breast car...	OMIM:158350
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Intestinal polyposis, Abnormal large intestine morphology, Viscer...	ORPHA:109
Lhermitte-Duclos Disease	Enlarged cerebellum, Ataxia	ORPHA:65285
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Lymphoma, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, ...	ORPHA:397596
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro...	ORPHA:137608
Proteus-Like Syndrome	Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Heman...	ORPHA:2969
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous...	ORPHA:79076
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, High palate, Lymphopenia	OMIM:605309
Bilateral Frontoparietal Polymicrogyria	Hypoplasia of the pons, Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Cerebellar ...	ORPHA:101070
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Retinal hamartoma, Neoplasm of the thymus, Enlarged poly...	ORPHA:744

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

Disease	Matching phenotypes	Source
Chemodectoma, Intraabdominal, With Cutaneous Angiolipomas	Cutaneous angiolipomas, Retroperitoneal chemodectomas, Chemodectoma	OMIM:118350
Pheochromocytoma/Paraganglioma Syndrome 7	Pheochromocytoma, Paraganglioma	OMIM:618475
Pheochromocytoma/Paraganglioma Syndrome 5	Paraganglioma	OMIM:614165
Carcinoid Tumors, Intestinal	Intestinal carcinoid	OMIM:114900
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608631
Schwannomatosis 2	Schwannoma, Spinal cord tumor	OMIM:615670
Insulinoma Tumor Suppressor Gene Locus	Insulinoma	OMIM:606960
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors	OMIM:618830
Drug Metabolism, Poor, Cyp2D6-Related	Neoplasm	OMIM:608902
Adamantinoma Of Long Bones	Neoplasm	OMIM:102660
Cancer, Familial, With In Vitro Radioresistance	Neoplasm	OMIM:114450
Multiple Self-Healing Squamous Epithelioma, Susceptibility To	Neoplasm	OMIM:132800
Nasopharyngeal Carcinoma, Susceptibility To, 2	Neoplasm	OMIM:161550
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp...	ORPHA:454840
Familial Adenomatous Polyposis 3	Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma...	OMIM:616415
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Paraganglioma And Gastric Stromal Sarcoma	Paraganglioma	OMIM:606864
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Muir-Torre Syndrome	Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla...	ORPHA:587
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Lynch Syndrome 5	Neoplasm of the pancreas, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endomet...	OMIM:614350
Lynch Syndrome 8	Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer, Endome...	OMIM:613244
Desmoid Disease, Hereditary	Colorectal polyposis, Breast carcinoma, Colon cancer, Desmoid tumors	OMIM:135290
Hereditary Mixed Polyposis Syndrome	Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato...	ORPHA:157794
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:607373
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ...	ORPHA:447877
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ...	ORPHA:157798
Colorectal Cancer, Susceptibility To, 10	Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis, Endometrial carcinoma	OMIM:612591
Cowden-Like syndrome	Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma	OMIM:612359
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Lynch Syndrome 4	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm	OMIM:614337
Multiple Fibroadenomas Of The Breast	Fibroadenoma of the breast	OMIM:615554
Schwannomatosis 1	Vestibular schwannoma, Peripheral schwannoma, Spinal cord tumor, Meningioma	OMIM:162091
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Neoplasm of head and neck, Goiter, Breast carcinoma, Abnor...	ORPHA:97290
Glioma susceptibility 9	Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia	OMIM:616568
Thyroid Cancer, Nonmedullary, 4	Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter	OMIM:616534
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter...	OMIM:114500
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan...	OMIM:168000
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Neoplasm of head and neck, Chronic noninfectious lymphadenopathy, A...	ORPHA:319487
Hereditary Leiomyomatosis And Renal Cell Cancer	Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar...	ORPHA:523
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immuno...	OMIM:153600
N Syndrome	Cryptorchidism, Leukemia, Neoplasm, Hypospadias	OMIM:310465
Intellectual Developmental Disorder With Autism And Speech Delay	Abnormal repetitive mannerisms, Impaired social interactions	OMIM:606053
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ...	OMIM:619975
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para...	OMIM:605373
Mismatch Repair Cancer Syndrome 2	Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer	OMIM:619096
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Hereditary Breast And/Or Ovarian Cancer Syndrome	Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal...	ORPHA:145
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias	OMIM:247640
Tumor Predisposition Syndrome 4	Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma	OMIM:609265
Myeloproliferative Disorder, Chronic, With Eosinophilia	Malignant eosinophil proliferation, Eosinophilia, Myeloproliferative disorder	OMIM:131440
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer	OMIM:246470
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp...	ORPHA:480536
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr...	OMIM:180295
Meningioma, Familial, Susceptibility To	Meningioma	OMIM:607174
Pheochromocytoma/Paraganglioma Syndrome 2	Vagal paraganglioma, Glomus tympanicum paraganglioma, Chemodectoma, Glomus jugular tumor, Neoplasm	OMIM:601650
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p...	ORPHA:220460
Mismatch Repair Cancer Syndrome 4	Glioblastoma multiforme, Astrocytoma, Adenomatous colonic polyposis, Colon cancer, Non-Hodgkin ly...	OMIM:619101
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt...	OMIM:614470
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ...	OMIM:608636
Myeloproliferative Disease, Autosomal Recessive	Myeloproliferative disorder	OMIM:254700
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo...	OMIM:115310
Hereditary Leiomyomatosis And Renal Cell Cancer	Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom...	OMIM:150800
Pancreatic Cancer, Susceptibility To, 5	Melanoma, Pancreatic adenocarcinoma	OMIM:618680
Fanconi Anemia, Complementation Group G	Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia	OMIM:614082
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Glioma Susceptibility 2	Oligodendroglioma, Meningioma	OMIM:613028
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Leiomyoma, Uterine	Uterine leiomyoma	OMIM:150699
Cowden Syndrome	Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma...	ORPHA:201
Endometrial Cancer	Endometrial carcinoma	OMIM:608089
Testicular Germ Cell Tumor	Choriocarcinoma, Azoospermia, Teratoma, Embryonal neoplasm	OMIM:273300
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat...	ORPHA:79140
Polyposis Syndrome, Hereditary Mixed, 2	Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol...	OMIM:610069
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Breast-Ovarian Cancer, Familial, Susceptibility To, 2	Breast carcinoma, Ovarian neoplasm	OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1	Breast carcinoma, Ovarian neoplasm	OMIM:604370
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, B-cell lymphoma, Lymphadenopathy	ORPHA:52416
Breast-Ovarian Cancer, Familial, Susceptibility To, 3	Ovarian carcinoma, Breast carcinoma	OMIM:613399
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon...	OMIM:616871
Medullary Thyroid Carcinoma	Neoplasm of the skeletal system, Primary hyperparathyroidism, Neoplasm of the lung, Pheochromocyt...	ORPHA:1332
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae	OMIM:614038
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my...	OMIM:160980
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume, Myelodysplasia	OMIM:252270
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea...	ORPHA:98827
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Wt Limb-Blood Syndrome	Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia	OMIM:194350
Cowden Syndrome 7	Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci...	OMIM:616858
Ovarian Cancer	Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma	OMIM:167000
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Premature graying of hair, Bone marrow hypocellularity, Leukemia, ...	OMIM:614743
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p...	ORPHA:2930
Intellectual Developmental Disorder, Autosomal Recessive 66	Shyness, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:618221
Primary Erythromelalgia	Leukemia	ORPHA:90026
Ovarian Fibromata	Ovarian fibroma	OMIM:166970
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ...	OMIM:619041
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia	OMIM:610738
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Familial Adenomatous Polyposis 4	Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian c...	OMIM:617100
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior	OMIM:617171
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Myelodysplasia	OMIM:162830
Immunodeficiency 21	Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen...	OMIM:614172
Thyroid Dyshormonogenesis 3	Increased T3/T4 ratio, Compensated hypothyroidism, Thyroid carcinoma, Goiter	OMIM:274700
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Multiple lipomas, Rena...	OMIM:135150
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Breast carcinoma, Macroor...	ORPHA:90790
Thyroid Cancer, Nonmedullary, 1	Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter	OMIM:188550
Amed Syndrome, Digenic	Acute myeloid leukemia, Myelodysplasia, Thrombocytopenia, Hypoplasia of the uterus, Leukopenia, B...	OMIM:619151
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid c...	ORPHA:210548
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Gonadal dysgenesis	OMIM:615041
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma	ORPHA:281090
Pancreatic Cancer	Neoplasm of the pancreas	OMIM:260350
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Renal neoplasm, Pancreatic adenocarcinoma, Glioblastoma multiforme, ...	ORPHA:440437
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Anal a...	OMIM:605724
Full Schwannomatosis	Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa...	ORPHA:93921
Polyposis, Intestinal, With Multiple Exostoses	Intestinal polyposis, Multiple exostoses	OMIM:175450
Thyroid Lymphoma	Hyperthyroidism, Lymphoma, Lymphadenopathy, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Myelodysplasia, Anisocytosis, Abnormal erythrocyte mor...	ORPHA:86841
Glioma Susceptibility 3	Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med...	OMIM:613029
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte...	ORPHA:247798
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Desmoid...	ORPHA:873
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Depress...	OMIM:618378
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco...	ORPHA:247806
Teratoma, Pineal	Abnormal abdomen morphology, Teratoma	OMIM:273120
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Insulinomatosis And Diabetes Mellitus	Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h...	OMIM:147630
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Adenocarcinoma Of The Esophagus	Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy	ORPHA:99976
Lynch Syndrome	Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma...	ORPHA:144
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob...	OMIM:193300
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Endometrial carcinoma, High, narrow palate, Breast carcinoma, Melanoma, Thick eyebrow	ORPHA:457212
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Rectal prolapse, Multiple gastric polyps, Breast carcinoma, Hamartomato...	OMIM:175200
Familial Adenomatous Polyposis	Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga...	ORPHA:733
Pick Disease Of Brain	Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotional blunting, Abnormal rep...	OMIM:172700
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ha...	ORPHA:251992
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Gardner Syndrome	Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci...	ORPHA:79665
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Normocytic anemia, Hepatomegaly, Pancytopenia, Myelodysplasia, Anemia of ...	ORPHA:75564
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Anaplastic Thyroid Carcinoma	Neoplasm of the skeletal system, Tracheoesophageal fistula, Lymphadenopathy, Neoplasm of the lung...	ORPHA:142
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Pancreatic Cancer, Susceptibility To, 1	Pancreatic adenocarcinoma	OMIM:606856
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Gastroesophageal refl...	OMIM:614742
Prostate Cancer	Prostate cancer	OMIM:176807
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersple...	ORPHA:98850
Gestational Choriocarcinoma	Choriocarcinoma, Trophoblastic tumor, Neoplasm	ORPHA:99926
Solitary Fibrous Tumor	Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Neoplasm of the lung, Neoplasm of the l...	ORPHA:2126
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608049
Thyroid Dyshormonogenesis 2A	Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific...	OMIM:274500
Testicular Germ Cell Tumor 1	Germ cell neoplasia	OMIM:300228
Axin2-Related Attenuated Familial Adenomatous Polyposis	Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Sparse...	ORPHA:401911
Familial Adenomatous Polyposis 1	Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroma, Adenomatous colonic polyposis...	OMIM:175100
Hirschsprung Disease	Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Functional abnormality of th...	ORPHA:388
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Lymphoma, Hepatosplenomegaly, Decreased proportion of class-switched memo...	OMIM:619126
Barth Syndrome	Dilated cardiomyopathy, Abnormal mitochondrial morphology	ORPHA:111
Hsd10 Mitochondrial Disease	Restlessness, Progressive neurologic deterioration, Aggressive behavior, Abnormal mitochondrial m...	OMIM:300438
Familial Multinodular Goiter	Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ...	ORPHA:276399
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Cowden Syndrome 1	Colonic diverticula, Hyperthyroidism, Goiter, Fibroadenoma of the breast, Thyroiditis, Breast car...	OMIM:158350
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Leukemia, Meningioma	OMIM:602501
Familial Melanoma	Neoplasm of the pancreas, Neoplasm of the stomach, Abnormal hair morphology, Melanoma, Neoplasm o...	ORPHA:618
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma, Sparse hair, Aplasia/H...	ORPHA:50944
Turcot Syndrome With Polyposis	Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi...	ORPHA:99818
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ...	OMIM:188570
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo...	OMIM:171400
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Pancytopenia, Malabsorption, Cryptorchidism, Leukocytosis, Lym...	ORPHA:99812
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Ataxia-Pancytopenia Syndrome	Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Neutropenia, Hypoplastic anemia, A...	OMIM:159550
Muir-Torre Syndrome	Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ...	OMIM:158320
Epidermodysplasia Verruciformis, Susceptibility To, 3	Basal cell carcinoma, Verrucae, Squamous cell carcinoma	OMIM:618267
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Myelodysplasia, Acute lymphoblastic leukem...	ORPHA:486
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Cowden Syndrome 6	Colonic diverticula, Hyperthyroidism, Goiter, Fibroadenoma of the breast, Thyroiditis, Breast car...	OMIM:615109
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Abnorm...	OMIM:601399
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma	ORPHA:66661
Thymoma	Aplastic anemia, Neoplasm of head and neck, Pure red cell aplasia, Imbalanced hemoglobin synthesi...	ORPHA:99867
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphoma, Lymphad...	ORPHA:100025
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly...	ORPHA:98849
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Peutz-Jeghers Syndrome	Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop...	ORPHA:2869
Nk-Cell Enteropathy	Colonic diverticula, Lymphoproliferative disorder, Duodenal ulcer, Abnormal gastric mucosa morpho...	ORPHA:263665
Pendred Syndrome	Compensated hypothyroidism, Thyroid carcinoma, Goiter	OMIM:274600
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy	ORPHA:86893
Multiple Endocrine Neoplasia Type 1	Angiofibromas, Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Pituitary gonado...	ORPHA:652
Cowden Syndrome 5	Colonic diverticula, Hyperthyroidism, Goiter, Thyroiditis, Breast carcinoma, Furrowed tongue, Ham...	OMIM:615108
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Testicular neoplasm, Mediastinal lymphadenopathy, Ileus, Ovarian neopla...	ORPHA:83469
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Tracheobronchial leiomyomatosis, Esophageal stenosis, Diffuse leiomyomatosis, Vaginal neoplasm, V...	ORPHA:1018
Cheilitis Glandularis	Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma	ORPHA:1221
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Ly...	OMIM:619164
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma	ORPHA:79152
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Myelodysplasia, Acute leukemia	ORPHA:3318
Nasu-Hakola Disease	Functional abnormality of the gastrointestinal tract, Acute leukemia	ORPHA:2770
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma	ORPHA:2023
Carney Complex	Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma...	ORPHA:1359
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma	OMIM:619437
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic f...	OMIM:269150
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Brain neoplasm, Metrorrhagia, Precocious puberty, Spinal cord tumor, Ov...	ORPHA:370348
Burkitt Lymphoma	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the pancreas, Abnormality of ...	ORPHA:543
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Chilblain Lupus	Chronic myelomonocytic leukemia	ORPHA:90280
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Duplication Of The Pituitary Gland	Teratoma, Abnormal pituitary gland morphology, Volvulus, Cleft palate	ORPHA:314621
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Laryngeal carcinoma, Hypospadias, External genital hypoplasia, Ovotestis, Carcinoma, Nail dystrop...	OMIM:610644
Storage Pool Platelet Disease	Decreased mean platelet volume, Myelodysplasia, Acute leukemia	OMIM:185050
Fetal Iodine Deficiency Disorder	Congenital goiter, Congenital hypothyroidism	OMIM:228355
Mccune-Albright Syndrome	Intestinal polyposis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone c...	OMIM:174800
Hemihyperplasia, Isolated	Myelomeningocele, Nephroblastoma, Embryonal neoplasm	OMIM:235000
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior	OMIM:617270
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidism, Lymphoc...	ORPHA:514
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Inappropriate behavior, Astrocytosis	OMIM:600795
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Acute myeloid leukemia, Chronic myelomonocytic leukemia	OMIM:616604
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, G...	ORPHA:206484
Huntington Disease	Bradyphrenia, Oral-pharyngeal dysphagia, Aggressive behavior, Abnormality of the sense of smell, ...	ORPHA:399
Subependymoma	Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup...	ORPHA:251639
Ependymoma	Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup...	ORPHA:251636
Steinert Myotonic Dystrophy	Endometrial carcinoma, Alopecia, Brain neoplasm, Intestinal pseudo-obstruction, Decreased respons...	ORPHA:273
Pyoderma Gangrenosum	Inflammation of the large intestine, Myeloid leukemia, Myelodysplasia	ORPHA:48104
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Gait ataxia, Choreoathetosis, Astrocytosis, Basal ganglia gliosis	ORPHA:225154
Immunodeficiency 16	Splenomegaly, Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Phakomatosis Pigmentokeratotica	Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Basal ce...	ORPHA:2874
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,...	ORPHA:71505
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto...	OMIM:300853
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social interactions	OMIM:617820
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Sporadic Creutzfeldt-Jakob Disease	Gliosis, Ataxia, Astrocytosis	ORPHA:204
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,...	OMIM:619824
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit...	ORPHA:79456
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism	OMIM:619150
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Neoplasm of the larynx, Oral-pharyngeal dysphagia, Adrenoc...	ORPHA:100083
Immunodeficiency 36 With Lymphoproliferation	B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion...	OMIM:616005
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Currarino Syndrome	Bifid scrotum, Sacrococcygeal teratoma, Hypoplasia of penis, Hypospadias, Male pseudohermaphrodit...	ORPHA:1552
Lymphoproliferative Syndrome 3	Lymphoproliferative disorder, Hodgkin lymphoma, Hepatosplenomegaly, Lymphadenopathy, Reduced natu...	OMIM:618261
Kleine-Levin Syndrome	Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet cravin...	ORPHA:33543
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ...	OMIM:619375
Spastic Paraplegia Type 7	Memory impairment, Abnormal mitochondrial morphology, Attention deficit hyperactivity disorder, D...	ORPHA:99013
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Self-injurious behavior, Impaired social interactions, Stereotypical hand wringing	ORPHA:397933
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Neoplasm of the skeletal system, Rectal prolapse, Lymphadenopathy, Neoplasm of the...	ORPHA:424019
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cranial nerve compression, Adrenal...	ORPHA:276621
Acquired Ichthyosis	Neoplasm, Lymphoma, Multiple myeloma, Sarcoma	ORPHA:454
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl...	ORPHA:2929
Infantile Myofibromatosis	Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ...	ORPHA:2591
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma	OMIM:171420
Carney Triad	Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang...	ORPHA:139411
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Neoplasm	ORPHA:172
Hereditary Pheochromocytoma-Paraganglioma	Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cranial...	ORPHA:29072
Neurofibromatosis, Type I	Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl...	OMIM:162200
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Irritability, Inappropria...	ORPHA:275864
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma	OMIM:606764
Aicardi Syndrome	Hiatus hernia, Precocious puberty, Teratoma, Carcinoma, Cleft palate, Lipoma, Hepatoblastoma, Met...	OMIM:304050
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Somatic sensory dysfunction, Abnormal oligodendroglia morphology, ...	ORPHA:217260
Retinoblastoma	Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairli...	OMIM:613224
Ring Chromosome 12 Syndrome	High, narrow palate, Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Dystrophic toenail...	ORPHA:1439
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Ovarian Fibrothecoma	Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal c...	ORPHA:314478
Grfoma	Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym...	ORPHA:97261
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Squamous cell carcinoma	OMIM:613736
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto...	ORPHA:86839
Ollier Disease	Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, H...	ORPHA:296
Hypothyroidism, Congenital, Nongoitrous, 1	Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi...	OMIM:275200
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased mitochondrial number	ORPHA:457050
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Intestinal polyposis, Abnormal large intestine morphology, Viscer...	ORPHA:109
Frontotemporal Dementia With Motor Neuron Disease	Frontotemporal dementia, Abnormal mitochondrial morphology, Depression, Disinhibition, Dysphagia	ORPHA:275872
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis	OMIM:175510
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Hypospadias, Cryptorchidism, Hemangioma, Intestinal polyp	ORPHA:457485
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha...	ORPHA:90033
Pheochromocytoma	Hemangioma, Neoplasm, Pheochromocytoma	OMIM:171300
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Myelodysplasia, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Micropenis, Leukemia	OMIM:619951
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Streak ovary, Hypospadias, Nephroblastoma, Aganglionic megacolon, Ependy...	ORPHA:798
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Papillary renal cel...	OMIM:145001
Familial Adenomatous Polyposis 2	Adenomatous colonic polyposis, Colon cancer	OMIM:608456
Leukemia, Chronic Myeloid	Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia	OMIM:608232
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Ovarian neoplasm, Macroglossia,...	ORPHA:2221
Lig4 Syndrome	Pancytopenia, Myelodysplasia, Cryptorchidism, Low anterior hairline, Acute lymphoblastic leukemia...	OMIM:606593
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui...	ORPHA:64744
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number, Depression	ORPHA:352470
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Sarcoma	ORPHA:2762
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida	ORPHA:2476
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux	OMIM:608971
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Peptic ulcer, Renal hamartoma, Testicular neoplasm, Fibroma, Primary h...	ORPHA:99880
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Palmoplantar Carcinoma, Multiple Self-Healing	Carcinoma, Nail dystrophy, Squamous cell carcinoma	OMIM:615225
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Hyperkeratosis Lenticularis Perstans	Basal cell carcinoma, Squamous cell carcinoma	ORPHA:409
Parasomnia, Sleep Bruxism Type	Bruxism	OMIM:606840
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Cleft palate, Acute lym...	ORPHA:1052
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Peptic ulcer, Renal hamartoma, Testicular neoplasm, Fibroma, Primary h...	ORPHA:143
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy	ORPHA:545
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of neutrophils, Malabso...	ORPHA:33226
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-ob...	ORPHA:1333
Tuberous Sclerosis Complex	Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui...	ORPHA:805
Lhermitte-Duclos Disease	Enlarged cerebellum, Ataxia	ORPHA:65285
Benign Schwannoma	Intestinal polyposis, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannom...	ORPHA:252164
Blepharochalasis And Double Lip	Goiter	OMIM:109900
Juvenile Nasopharyngeal Angiofibroma	Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis	ORPHA:289596
Combined Immunodeficiency Due To Dock8 Deficiency	Squamous cell carcinoma, Anal canal squamous carcinoma, T lymphocytopenia, Squamous cell carcinom...	ORPHA:217390
46,Xy Sex Reversal 6	Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Gonadal dysgenesis, Chordee, Dysgermi...	OMIM:613762
Multiple Endocrine Neoplasia Type 2	Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma of head and neck, Neoplasm of the ske...	ORPHA:653
Mccune-Albright Syndrome	Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Precocious pubert...	ORPHA:562
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Myelodysplasia	ORPHA:721
Ovarian Fibroma	Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,...	ORPHA:314473
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Bloom Syndrome	Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Stomach cancer, Decreased proportion o...	ORPHA:125
Acute Promyelocytic Leukemia	Acute promyelocytic leukemia	OMIM:612376
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Junctional Epidermolysis Bullosa Inversa	Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Nail dystrophy, Cut...	ORPHA:79405
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multinodular goiter	ORPHA:2091
Isolated Hemihyperplasia	Cryptorchidism, Myelomeningocele, Nephroblastoma	ORPHA:2128
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ...	ORPHA:101039
Porphyria Due To Ala Dehydratase Deficiency	Abnormal erythrocyte enzyme level, Increased fecal coproporphyrin 3, Myeloproliferative disorder	ORPHA:100924
Tatton-Brown-Rahman Syndrome	Cryptorchidism, Myeloid leukemia, Neuroendocrine neoplasm, Thick eyebrow	ORPHA:404443
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El...	ORPHA:95716
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim...	OMIM:274300
Inherited Creutzfeldt-Jakob Disease	Gait ataxia, Progressive cerebellar ataxia, Chorea, Astrocytosis	ORPHA:282166
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Lymphoma, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, ...	ORPHA:397596
Carney-Stratakis Syndrome	Gastrointestinal stroma tumor, Intestinal obstruction, Paraganglioma	ORPHA:97286
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Goiter	OMIM:600791
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms, Abnormal emotion, Impaired social interactions	ORPHA:168782
Fanconi Anemia, Complementation Group E	Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Reticulocytopenia...	OMIM:600901
Rothmund-Thomson Syndrome Type 1	Premature ovarian insufficiency, Aplastic anemia, Alopecia totalis, Myelodysplasia, Cryptorchidis...	ORPHA:221008
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno...	OMIM:131100
Neurofibromatosis Type 1	Abnormal hair quantity, Astrocytoma, Precocious puberty, Cryptorchidism, Chronic myelogenous leuk...	ORPHA:636
Rhabdoid Tumor	Renal neoplasm, Thrombocytopenia, Lymphadenopathy, Neoplasm of the central nervous system, Neopla...	ORPHA:69077
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Cleft palate, Leiomyosarcoma, Melanoma, Retino...	ORPHA:790
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Emotional lability, Disinhibition, Dysphagia	OMIM:612069
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis	ORPHA:71493
Multiple Endocrine Neoplasia, Type Iib	Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Nodular...	OMIM:162300
Neural Tube Defects, Susceptibility To	Myelomeningocele, Hydrocephalus, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta	OMIM:182940
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia,...	OMIM:227650
Dyskeratosis Congenita, X-Linked	Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Premature graying of hair, Leukop...	OMIM:305000
Pendred Syndrome	Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter	ORPHA:705
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Adenomatous colonic polyposis, Breast ca...	OMIM:608615
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Zollinger-Ellison syndrome, Glucagonoma	ORPHA:438274
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Myeloid leukemia, Menorrhagia	ORPHA:331
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Premature Ovarian Failure 8	Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e...	OMIM:615723
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein throm...	ORPHA:729
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly, Enlarged cerebellum	ORPHA:477993
Ataxia-Telangiectasia	Diabetes mellitus, Female hypogonadism, Lymphoma, Hodgkin lymphoma, Acute lymphoblastic leukemia,...	OMIM:208900
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Hodgkin lymphoma, Absent circulating B c...	OMIM:620282
Oncogenic Osteomalacia	Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t...	ORPHA:352540
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Abnorma...	OMIM:275000
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618709
Thymic Neuroendocrine Tumor	Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade...	ORPHA:97289
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Hypospadias, Cryptorchidism, Embryonal rhabdomyosarcoma, Cleft palate, Micropenis,...	OMIM:257300
Bloom Syndrome	Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidism, Lymphoma, Squamous cell ...	OMIM:210900
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Polyposis, Intestinal, Scattered And Discrete	Discrete intestinal polyps	OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome	Serrated intestinal polyps	OMIM:617108
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Myelodysplasia, Absence of lymph node germinal center, Autoimmune th...	OMIM:608184
Late-Onset Junctional Epidermolysis Bullosa	Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Nail dystrophy, Cut...	ORPHA:79406
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst...	OMIM:618718
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne...	ORPHA:137605
Classic Mycosis Fungoides	Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the...	ORPHA:2584
Xeroderma Pigmentosum Variant	Melanoma, Basal cell carcinoma, Squamous cell carcinoma	ORPHA:90342
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:613670
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Astrocytosis	OMIM:611087
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Alopecia totalis, Myelodysplasia, Cryptorchidism, Lymphoma, Functional abnormali...	ORPHA:221016
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B-cell lymphoma, Absenc...	OMIM:619924
Schopf-Schulz-Passarge Syndrome	Poroma, Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Sparse hair, Sparse body h...	OMIM:224750
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm	OMIM:240500
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ...	OMIM:273250
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Mismatch Repair Cancer Syndrome 3	Glioblastoma multiforme, Astrocytoma, Lymphoma, T-cell lymphoma, Neoplasm of the rectum, Colon ca...	OMIM:619097
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone level, Testicular ne...	ORPHA:99429
Retinal Dystrophy With Or Without Extraocular Anomalies	Goiter	OMIM:617175
Pelizaeus-Merzbacher Disease	Choreoathetosis, Ataxia, Reduction of oligodendroglia, Cerebellar vermis atrophy	OMIM:312080
Granulomatous Slack Skin	Lymphoma, Hodgkin lymphoma, Abnormal lymph node morphology	ORPHA:33111
Immunodeficiency 54	Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Adrenocorticotropic ho...	OMIM:609981
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Cryptorchidism, Decreased testicular size, Abnormality of the sense of smell	OMIM:146110
Fanconi Anemia, Complementation Group C	Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Reticulocytopenia...	OMIM:227645
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Leukocytosis, Breast carcinoma, Chr...	ORPHA:3243
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:239500
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Hypothyroidism, Congenital, Nongoitrous, 5	Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo...	OMIM:225250
Nephroblastoma	Lymphadenopathy, Neoplasm of the lung, Neoplasm of the liver, Neoplasm, Nephroblastoma	ORPHA:654
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentrati...	ORPHA:417
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia	OMIM:617862
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma...	OMIM:615122
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Enlarged cerebellum	ORPHA:85165
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Indolent Systemic Mastocytosis	Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25...	ORPHA:98848
Hypothyroidism, Congenital, Nongoitrous, 9	Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l...	OMIM:301035
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Thyroid Dyshormonogenesis 1	Hypothyroidism, Goiter	OMIM:274400
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth...	OMIM:613239
Microcephaly 29, Primary, Autosomal Recessive	Enlarged cerebellum, Ataxia	OMIM:620047
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Prolonged neonata...	ORPHA:95715
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Sex reversal, Squamous cell carcinoma of the skin	ORPHA:85112
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Jaundic...	ORPHA:525731
Liposarcoma	Sarcoma	ORPHA:69078
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Self-Improving Dystrophic Epidermolysis Bullosa	Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Nail dystrophy, Cut...	ORPHA:79411
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenoc...	OMIM:620189
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Recessive Dystrophic Epidermolysis Bullosa Inversa	Esophageal stricture, Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinom...	ORPHA:79409
Bangstad Syndrome	Insulin-resistant diabetes mellitus, Pancytopenia, Primary gonadal insufficiency, Goiter	OMIM:210740
Down Syndrome	Aganglionic megacolon, Protruding tongue, Abnormality of the lymphatic system, Narrow palate, Mac...	ORPHA:870
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma	ORPHA:626
Nijmegen Breakage Syndrome	Abnormal hair quantity, Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Glioma, B-c...	ORPHA:647
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Anemia	ORPHA:37748
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Nevus Comedonicus Syndrome	Hamartoma, Spina bifida occulta, Spina bifida	ORPHA:64754
Werner Syndrome	Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, Neoplasm, Thyroid carcin...	ORPHA:902
Fanconi Anemia, Complementation Group D2	Pancytopenia, Hypergonadotropic hypogonadism, Esophageal atresia, Cryptorchidism, Thrombocytopeni...	OMIM:227646
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Elevated circulating parathyroid hormone level, Pheoch...	ORPHA:97685
Thyrocerebroretinal Syndrome	Thrombocytopenia, Goiter	OMIM:274240
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hyposmia, Azoospermia	OMIM:613724
Middle Ear Neuroendocrine Tumor	Neuroendocrine neoplasm, Facial palsy, Carcinoid tumor	ORPHA:100084
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcification	OMIM:608189
Leber Congenital Amaurosis 10	Hyposmia	OMIM:611755
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro...	OMIM:617052
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity	ORPHA:391
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Polyphagia, Impaired social interactions, Aggressive behavior	ORPHA:329249
Rothmund-Thomson Syndrome	Sparse eyelashes, Alopecia totalis, Myelodysplasia, Aplastic anemia, Sparse eyebrow, Squamous cel...	ORPHA:2909
Thyrocerebrorenal Syndrome	Euthyroid goiter, Thrombocytopenia	ORPHA:3327
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con...	ORPHA:99832
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Ascher Syndrome	High palate, Hypothyroidism, Goiter	ORPHA:1253
N-Acetylaspartate Deficiency	Abnormal repetitive mannerisms, Self-mutilation	OMIM:614063
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Malabsorption, Splenome...	ORPHA:79301
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreati...	ORPHA:892
Neuroblastoma, Susceptibility To, 2	Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma	OMIM:613013
Ring Chromosome Y Syndrome	Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor...	ORPHA:261529
Developmental And Epileptic Encephalopathy 58	Abnormal repetitive mannerisms	OMIM:617830
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas...	OMIM:175500
Necrobiosis Lipoidica	Granuloma, Abnormality of neutrophil physiology, Squamous cell carcinoma	ORPHA:542592
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hyposmia	OMIM:615266
Beckwith-Wiedemann Syndrome	Cardiomegaly, Leiomyosarcoma, Neoplasm, Hepatoblastoma, Hypothyroidism, Polycythemia, Hepatomegal...	ORPHA:116
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Astrocytosis	ORPHA:100070
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Hypothyroidism Due To Tsh Receptor Mutations	Reduced radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentration...	ORPHA:90673
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Thrombocytopenia, Steatorrhea, Persistence ...	OMIM:260400
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Irregular menstruation, Uterine leiomyoma, Gastroesophageal reflux, Exostoses	OMIM:616482
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Proteus Syndrome	Splenomegaly, Multiple lipomas, Lipoma, Lymphangioma, Hemangioma	OMIM:176920
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hyposmia	OMIM:615271
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym...	OMIM:613011
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemi...	ORPHA:276152
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619470
Noonan Syndrome 2	Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, High palate, Leukemia	OMIM:605275
Thoraco-Abdominal Enteric Duplication	Meningocele, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Gastrointestinal hemorrhage, Portal hypertension, Microcytic anemia, Viscer...	ORPHA:774
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Macrog...	ORPHA:226313
Fibular Dimelia-Diplopodia Syndrome	Sacrococcygeal teratoma	ORPHA:1757
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali...	ORPHA:1414
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Ambiguous genitalia, Clitoral hypertrophy, Hypospadias, Male i...	ORPHA:90797
Glutaric Aciduria Iii	Hyperthyroidism, Goiter	OMIM:231690
Aicardi Syndrome	Intestinal polyposis, Hiatus hernia, Precocious puberty, Malabsorption, Cleft palate, Multiple li...	ORPHA:50
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro...	ORPHA:137608
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Mycosis Fungoides	Lymphoma, Neoplasm of the skin, Lymphadenopathy	OMIM:254400
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Frasier Syndrome	Gonadal dysgenesis, Male pseudohermaphroditism, Ovarian gonadoblastoma	OMIM:136680
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida, Mitral valve prolapse	OMIM:211960
Dubowitz Syndrome	Hypoparathyroidism, Sparse scalp hair, Anal stenosis, Hypospadias, Abnormality of neutrophils, Ma...	ORPHA:235
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Burkitt...	OMIM:308240
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Thrombocyto...	OMIM:613101
Foxg1 Syndrome	Impaired social interactions, Bruxism, Abnormal repetitive mannerisms, Paroxysmal bursts of laugh...	ORPHA:561854
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hypogonadism, Hepatic fibrosis, Cirrho...	OMIM:613313
Genetic Transient Congenital Hypothyroidism	Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of...	ORPHA:226316
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Caudal Duplication	Abnormal penis morphology, Spina bifida, Cryptorchidism, Myelomeningocele, Uterus didelphys	ORPHA:1756
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious behavior, Irritability, A...	ORPHA:449291
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Lymphoproliferative disorder, Jaundice, Lymp...	ORPHA:276
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Myelodysplasia, Cryptorchidism, Thrombocytopenia, Premature graying of hair, Squamous cell carcin...	OMIM:620365
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Irritability, Abnormal repetitive mannerisms	OMIM:617393
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ...	ORPHA:436159
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Choanal atresia, Cryptorchidism, Anosmia, Hyposmia, Agenesis of corpus callosum	OMIM:147950
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Neutrophilia, Generalized lymphadenopathy, Cholangitis, Myelodyspl...	ORPHA:3260
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, High palate, Fibroma, Hypothyroidism	OMIM:619750
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Goiter	OMIM:617577
Proteus-Like Syndrome	Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Heman...	ORPHA:2969
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Malabsorption, Lymphadenopathy	ORPHA:42642
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous...	ORPHA:79076
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Hematemesis, Thrombocytopeni...	ORPHA:906
Gorlin Syndrome	Cryptorchidism, Hydrocephalus, Wide nasal bridge, Abnormality of the sense of smell	ORPHA:377
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Eosinophilia, Autoimmune thrombocytope...	ORPHA:911
Juvenile Xanthogranuloma	Myeloproliferative disorder	ORPHA:158000
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hyposmia, Bifid nose, Anosmia, Decreased testicular size	OMIM:614838
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Thyroiditis, Lymphadenopathy, A...	ORPHA:39041
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dilated cardiomyopathy, Arrhythmia, Decreased mitochondrial number, Dysphagia	ORPHA:352447
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Gliosis	OMIM:300857
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Xeroderma Pigmentosum, Complementation Group F	Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of...	OMIM:278760
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell	ORPHA:1135
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the...	ORPHA:3162
Diamond-Blackfan Anemia	Pure red cell aplasia, Low anterior hairline, Reticulocytopenia, Leukopenia, High palate, Neutrop...	ORPHA:124
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hyperthyroidism, Goiter	OMIM:188580
Kimura Disease	Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia	ORPHA:482
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Young-Onset Parkinson Disease	Short attention span, Restless legs, Impulsivity, Depression, Frontal lobe dementia, Dementia, Ag...	ORPHA:2828
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, Early balding, Adenomatous colonic polyposis, Desmoid tumors, Low posterior h...	ORPHA:261584
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Lymph...	ORPHA:424016
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Gastric varix, Cirrhosis	OMIM:613490
Hydrolethalus	Cryptorchidism, Hydrocephalus, Anencephaly, Abnormality of the sense of smell, Agenesis of corpus...	ORPHA:2189
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:609425
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape	OMIM:610773
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Ellis Van Creveld Syndrome	Abnormal hair quantity, Hypospadias, Abnormal hair morphology, Cryptorchidism, Epispadias, Acute ...	ORPHA:289
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop...	ORPHA:824
Cholesteryl Ester Storage Disease	Hepatomegaly, Adrenal calcification, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hepatic...	ORPHA:75234
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number, ST segment elevation, Ventricular tachycardia, Right bundle branc...	ORPHA:263297
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter	ORPHA:83601
Oral Submucous Fibrosis	Oropharyngeal squamous cell carcinoma	ORPHA:357154
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
11Q22.2Q22.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors	ORPHA:444002
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Hyposmia, Cryptorchidism, Anosmia, Decreased testicular size	OMIM:610628
Costello Syndrome	Chiari type I malformation, Enlarged cerebellum	OMIM:218040
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Ne...	OMIM:214900
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr...	OMIM:609152
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Premature Ovarian Failure 7	Elevated circulating luteinizing hormone level, Absent pubic hair, Hypoplasia of the uterus, Gona...	OMIM:612964
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m...	OMIM:500013
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Oropharyngeal squamous cell carcinoma, Yellow nails, Breast carcinoma, Nail dystrophy, ...	OMIM:614564
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Delayed puberty, Hirsutism	OMIM:300510
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi...	OMIM:271500
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Coffin-Siris Syndrome 12	Chiari malformation, Enlarged cerebellum	OMIM:619325
Cryptococcosis	Mediastinal lymphadenopathy, Lymphoid leukemia, Neoplasm, Prostatitis	ORPHA:1546
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Decreased serum estradi...	OMIM:618117
Split Cord Malformation	Hypospadias, Spinal cord tumor, Capillary hemangioma, Lipoma, Teratoma	ORPHA:573278
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Multinodular goiter, Squamous cell carcinoma, Nail dystrophy, Alopecia of scalp	OMIM:618373
Medulloblastoma	Adenomatous colonic polyposis, Medulloblastoma, Spinal cord tumor, Neoplasm of the lung, Neurobla...	ORPHA:616
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Stea...	ORPHA:75233
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Yellow Nail Syndrome	Renal neoplasm, Biliary tract neoplasm, Yellow nails, Neoplasm of the lung, Neoplasm, Sarcoma	ORPHA:662
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hyposmia, Cryptorchidism, Anosmia	OMIM:612702
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Lymphoproliferative disorder, Autoimmune hemolytic ane...	OMIM:614700
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic ...	OMIM:602347
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Anosmia, Decreased testicular size	OMIM:614858
Epidermodysplasia Verruciformis	Verrucae, Squamous cell carcinoma	ORPHA:302
Dubowitz Syndrome	Sparse scalp hair, Hypospadias, Aplastic anemia, Cryptorchidism, Velopharyngeal insufficiency, Su...	OMIM:223370
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Inflammation of the large i...	OMIM:300635
Meige Disease	Angiosarcoma, Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,...	ORPHA:90793
Currarino Syndrome	Anal stenosis, Septate vagina, Perianal abscess, Gastrointestinal obstruction, Presacral teratoma...	OMIM:176450
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Absent...	OMIM:614841
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, B-cell lymphoma, Chronic ...	ORPHA:91139
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:619690
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Thyroid hypoplasia, Thyroid agenesis, Cryptorchidism, Submucous cleft hard pa...	ORPHA:3047
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Sebocystomatosis	Steatocystoma multiplex, Adenoma sebaceum	ORPHA:841
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Severe Intellectual Disability And Progressive Spastic Paraplegia	Abnormal repetitive mannerisms, Shyness	ORPHA:280763
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sensation, Enlarged ce...	ORPHA:261537
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Combined Oxidative Phosphorylation Deficiency 18	Decreased activity of mitochondrial complex I, Increased mitochondrial number	OMIM:615578
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du...	OMIM:174900
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Congestive heart fa...	ORPHA:3077
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy, Anosmia, Total anosmia	OMIM:614879
Carcinoid Syndrome	Pulmonary carcinoid tumor, Small intestine carcinoid, Increased serum serotonin, Paraganglioma, A...	ORPHA:100093
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:424
Body Mass Index Quantitative Trait Locus 19	Hyposmia, Anosmia, Polyphagia	OMIM:617885
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Mowat-Wilson Syndrome	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ataxia, Impaired pain sensation, Enl...	ORPHA:2152
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ly...	OMIM:613179
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape, Cognitive impairment, Dysphagia	ORPHA:412217
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Highly arched eyebrow, Cryptorchidism, Splenomegaly, Low poster...	OMIM:613563
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Aggressive behavior, Impaired social interactions, Attention deficit hyperactivity...	OMIM:610042
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Alopecia, Esophageal stricture, Squamous cell carcinoma, Anem...	OMIM:226600
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cryptorchidism, Anosmia	OMIM:612370
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Hereditary Late-Onset Parkinson Disease	Impulsivity, Depression, Dementia, Agitation, Low frustration tolerance, Dysphagia, Mental deteri...	ORPHA:411602
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Nephroblast...	OMIM:194072
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Anal fissure, Perianal abscess, Lymphadenitis, Spl...	OMIM:618935
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Cirrhosis	OMIM:602390
Ovarian Dysgenesis 9	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary...	OMIM:619665
Bardet-Biedl Syndrome 19	Hyposmia	OMIM:615996
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Osteochondroma, Generalized lymphadenopathy, B-cell lymphoma, Burkitt lymphoma	OMIM:620232
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hyposmia, Cryptorchidism, Anosmia	OMIM:244200
Autoimmune Lymphoproliferative Syndrome	Hepatocellular carcinoma, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elev...	ORPHA:3261
Cholesteryl Ester Storage Disease	Acute hepatic failure, Adrenal calcification, Bone-marrow foam cells, Leukopenia, Hepatic fibrosi...	OMIM:278000
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy...	ORPHA:90674
Childhood Absence Epilepsy	Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression	ORPHA:64280
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sensation, Enlarged ce...	ORPHA:261552
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ...	OMIM:611134
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hypospadias, Abnormality of the thy...	ORPHA:209905
Kufor-Rakeb Syndrome	Aggressive behavior, Anosmia, Dementia, Dysphagia, Hyposmia	OMIM:606693
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
2Q23.1 Microdeletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu...	ORPHA:228402
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Eosinophilic infiltration of the esophagus, Squamous cell carcinoma, Decreased prop...	OMIM:243700
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Hypogonadism, Poikilo...	OMIM:615234
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan...	ORPHA:54251
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Hsd10 Disease	Abnormal social behavior, Dysphagia	ORPHA:391417
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Arrhythmia, Abnormality of the sense of smell	ORPHA:3201
Lamb-Shaffer Syndrome	Hyperactivity, Abnormal social behavior, Abnormal repetitive mannerisms, Abnormal temper tantrums	ORPHA:530983
Muscular Dystrophy, Congenital, Megaconial Type	Mitochondrial hypertrophy, Dilated cardiomyopathy	OMIM:602541
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Micropenis, Hypoplastic labia majora, E...	ORPHA:83628
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Nail dystrophy, Cut...	ORPHA:79410
Fanconi Anemia, Complementation Group P	Cryptorchidism, Pancytopenia, Anemia, Squamous cell carcinoma	OMIM:613951
Bardet-Biedl Syndrome 17	Hyposmia, Polydipsia, Anosmia, Cognitive impairment	OMIM:615994
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased serum insulin-like growth factor 1, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:77293
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Primary Dystonia, Dyt13 Type	Abnormal repetitive mannerisms	ORPHA:98807
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nasal septum, Anosmia, Depressed nasal bridge, Short nose	OMIM:302950
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ...	ORPHA:131
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Cryptorchidism, Anosmia, Azoospermia, Hyposmia, Decreased testicular size	OMIM:614897
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ...	OMIM:618917
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Anosmia, Decreased testicular size	OMIM:614880
Teratoma, Ovarian	Ovarian teratoma	OMIM:166950
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca...	OMIM:235200
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal repetitive mannerisms, Inappropriate laughter, Stereotypical hand wringing	OMIM:614104
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, High palate, Cryptorchidism	OMIM:609942
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane...	ORPHA:1908
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Rubinstein-Taybi Syndrome 1	Premature thelarche, Bilateral cryptorchidism, High, narrow palate, Low anterior hairline, Papill...	OMIM:180849
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Down Syndrome	Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Acute megakaryocytic leukemia, Macro...	OMIM:190685
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal st...	ORPHA:1572
Refsum Disease, Classic	Cardiomyopathy, Arrhythmia, Anosmia, Congestive heart failure	OMIM:266500
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Decreased serum estradiol, Elevated circulating follicle stimulating ho...	OMIM:617690
Xeroderma Pigmentosum, Variant Type	Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma	OMIM:278750
Neurocutaneous Melanocytosis	Neoplasm, Melanoma, Meningocele	ORPHA:2481
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Functional intestinal obstruction, Chronic noninfect...	ORPHA:100079
Recurrent Respiratory Papillomatosis	Squamous cell carcinoma, Dysphagia	ORPHA:60032
Mitochondrial Complex I Deficiency, Nuclear Type 29	Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Mitochondrial swellin...	OMIM:618250
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Immunodeficiency 10	Kaposi's sarcoma, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Lopes-Maciel-Rodan Syndrome	Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism	OMIM:617435
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Anemia	OMIM:618398
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Gliosis, Ataxia, Astrocytosis	OMIM:203700
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Schisis Association	Encephalocele, Anencephaly, Spina bifida	ORPHA:63862
Thumb Agenesis, Short Stature, And Immunodeficiency	Anosmia	OMIM:274190
46,Xy Ovotesticular Difference Of Sex Development	Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ...	ORPHA:325345
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv...	ORPHA:352490
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Pontocerebellar atrophy, Astrocytosis	ORPHA:258
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Christianson Syndrome	Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia	ORPHA:85278
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Mitochondrial swelling, Dysphagia	ORPHA:397744
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Partial anosmia, Total anosmia, Bilateral cryptorchidism, Congestive heart ...	ORPHA:2326
Enlarged Parietal Foramina	Occipital encephalocele, Myelomeningocele, Multiple exostoses	ORPHA:60015
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Holoprosencephaly, ...	OMIM:147250
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Dysdiadochokinesis, Truncal ataxia, Astrocytosis	ORPHA:309854
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Estrogen Resistance	Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Polycystic ...	OMIM:615363
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Pyloric stenosis	ORPHA:664
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Neoplasm, Myeloproliferative disorder	ORPHA:70591
Galloway-Mowat Syndrome 6	Abnormal repetitive mannerisms, Paroxysmal bursts of laughter	OMIM:618347
Baker-Gordon Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:618218
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly...	ORPHA:381
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:613812
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Intrauterine growth retardation	OMIM:603194
Branchiootorenal Syndrome 1	Intestinal malrotation, Cleft palate, Euthyroid goiter, High palate, Bifid uvula, Cholesteatoma	OMIM:113650
Septo-Optic Dysplasia Spectrum	Cryptorchidism, Anosmia, Polydipsia, Agenesis of corpus callosum	ORPHA:3157
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Hypothyroidism, Congenital, Nongoitrous, 2	Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo...	OMIM:218700
Premature Ovarian Failure 18	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary...	OMIM:619203
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen...	OMIM:616100
Ectopic Aldosterone-Producing Tumor	Renal cortical adenoma, Adrenocortical adenoma, Ovarian neoplasm	ORPHA:231632
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Lymphoma, Leukonychia, Leukemia	ORPHA:2526
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Cryptorchidism, Anosmia, Azoospermia, Hyposmia, Testicular atrophy, Decreased testicular size	OMIM:308700
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu...	ORPHA:347
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Brittle hair, Trichoschisis, Malabsorption, Squamous cell carcinoma, Fine...	OMIM:601675
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, A...	ORPHA:103918
Aural Atresia, Congenital	Hyposmia	OMIM:607842
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Apnea, Obstructive Sleep	Anosmia	OMIM:107650
Shukla-Vernon Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive...	OMIM:301029
Dyskeratosis Congenita	Abnormality of neutrophils, Anorectal anomaly, White hair, Premature graying of hair, Neoplasm, S...	ORPHA:1775
Wildervanck Syndrome	Meningocele	ORPHA:3456
Hyperostosis Cranialis Interna	Hyposmia, Anosmia	OMIM:144755
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Azoospermia, Testicular microlithiasis, Abnormality of the Leydig cells, Abnormality of the sense...	OMIM:228300
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Noonan Syndrome 1	Male infertility, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, Hypospadias...	OMIM:163950
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Hamartomatous stomach polyps, M...	OMIM:109400
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Sacral lipoma	ORPHA:2003
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Chime Syndrome	Sparse hair, Fine hair, Cleft palate, Acute leukemia	ORPHA:3474
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Anosmia, Oligozoospermia, Azoospermia, Abnormal sperm morphology...	ORPHA:52901
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention deficit hyperactivity disord...	OMIM:620242
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia	ORPHA:169090
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Cryptorchidism, Azoospermia, Anosmia, Decreased testicular size	OMIM:614837
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Anosmia	OMIM:615270
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Anosmia	OMIM:615267
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Nasal polyposis, Absent outer dynein arms, Anosmia, Chronic rhinitis	OMIM:244400
Felty Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphoma, Lymphadenopathy, Bone marrow hypocellular...	ORPHA:47612
Fumarase Deficiency	Decreased fumarate hydratase activity, Anteverted nares, Depressed nasal bridge, Aminoaciduria, M...	OMIM:606812
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Liver abscess, Generalized hirsutism, Squamous cell carcin...	ORPHA:678
Phace Association	Cavernous hemangioma of the face, Congenital hypothyroidism, Plaque-like facial hemangioma, Subgl...	OMIM:606519
Xq28 (MECP2) duplication	Depression, Abnormal repetitive mannerisms, Dysphagia	DECIPHER:45
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape, Dysphagia	ORPHA:485421
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Musk, Inability To Smell	Anosmia	OMIM:254150
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne...	ORPHA:1183
Poland Syndrome	Hypospadias, Retinal hamartoma, Cryptorchidism, Low posterior hairline, Acute leukemia, Neoplasm ...	ORPHA:2911
Aicardi-Goutières Syndrome	Enchondroma, Elevated hepatic transaminase, Diabetes mellitus, Cardiomegaly, Neonatal alloimmune ...	ORPHA:51
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hyperparathyroidism, Pituitary growth hormone cell adenoma, Pit...	ORPHA:913
Anosmia For Isobutyric Acid	Partial anosmia	OMIM:207000
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Hyperthyroidism, Hypogonadotropic hypogonadism, Female hypogonadism, El...	ORPHA:91347
Aredyld Syndrome	Hepatomegaly, Splenomegaly, Refractory anemia with ringed sideroblasts, Type II diabetes mellitus...	ORPHA:1133
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Anosmia For Butyl Mercaptan	Anosmia	OMIM:270350
Anosmia, Isolated Congenital, X-Linked	Anosmia	OMIM:301700
Anosmia, Isolated Congenital	Anosmia	OMIM:107200
Isovaleric Acid, Inability To Smell	Anosmia	OMIM:243450
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Hypogonadotropic Hypogonadism 25 With Anosmia	Cryptorchidism, Anosmia	OMIM:618841
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Cleft palate, Fine hair, Acute lymphoblastic leukemia, Hydrocele testis, H...	OMIM:280000
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, ...	OMIM:618892
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short attention span, Abnormal mitochondrial shape, Aggressive behavior, Decreased activity of mi...	ORPHA:17
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo...	OMIM:613673
Thyroid Ectopia	Abnormality of the thyroid gland, Jaundice, Macroglossia, Ectopic thyroid, Hypothyroidism	ORPHA:95712
Hereditary Amyloidosis With Primary Renal Involvement	Abnormality of the gastrointestinal tract, Hepatomegaly, Gastrointestinal hemorrhage, Primary tes...	ORPHA:85450
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ...	OMIM:158330
Holoprosencephaly	Encephalocele, Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Cryptorc...	ORPHA:2162
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Bruxism, Abnormal r...	OMIM:618342
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, Hepatitis, L...	OMIM:304790
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ...	OMIM:612310
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Cryptorchidism, Anosmia, Decreased testicular size	OMIM:616030
Refsum Disease	Heart block, Cardiomyopathy, Anosmia	ORPHA:773
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Anosmia, Wide nasal bridge	OMIM:210745
10Q22.3Q23.3 Microdeletion Syndrome	Intestinal polyposis, Breast aplasia	ORPHA:276413
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Emo...	OMIM:619580
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogona...	OMIM:203800
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620292
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Spina bifida, Anomalous pulmonary venous return, Abnormal aortic valve mor...	ORPHA:1120
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Cavernous hemangioma, Righ...	OMIM:616028
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Multiple myeloma, Anemia	OMIM:230800
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, St...	OMIM:235555
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Thyroid Hypoplasia	Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy	OMIM:619518
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Sparse eyelashes, Trichiasis, Sparse eyebrow, Squamous cell carcinoma, Absent pubic hair, Furrowe...	OMIM:148210
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Pulmonary lymphangiectas...	ORPHA:1655
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Laryngea...	OMIM:617388
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa...	ORPHA:79644
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repetitive ma...	OMIM:600430
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Ppoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati...	ORPHA:97278
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc...	OMIM:612714
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea...	ORPHA:2137
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina...	OMIM:266200
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	OMIM:617695
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida	ORPHA:2345
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Anosmia	ORPHA:2057
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Marcus-Gunn Syndrome	Choanal atresia, Abnormality of the sense of smell	ORPHA:91412
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor...	OMIM:618825
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Hyperthyroidism, Diabetes mellitus, Abnormality of the liver, Gast...	ORPHA:254892
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Triploidy	Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ...	ORPHA:3376
Smith-Magenis Syndrome	Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self...	OMIM:182290
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Hematochezia, Gastrointestinal carc...	OMIM:175050
8Q21.11 Microdeletion Syndrome	Cryptorchidism, Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell	ORPHA:284160
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Impaired so...	OMIM:300912
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati...	OMIM:202010
Kallmann Syndrome With Spastic Paraplegia	Cryptorchidism, Anosmia, Testicular atrophy	OMIM:308750
Insulinoma	Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,...	ORPHA:97279
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Cryptorchidism, Meningocele, Abnormal morphology of female internal genitalia, Umbil...	ORPHA:2311
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Mediastinal...	ORPHA:379
Johnson Neuroectodermal Syndrome	Bulbous nose, Anosmia, Choanal atresia	ORPHA:2316
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Ren...	OMIM:260920
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Ulcerative colitis, Colitis, Decreased basophil count, Crohn's diseas...	OMIM:618394
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Anosmia	ORPHA:1295
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Indifference To Pain, Congenital, Autosomal Recessive	Hyposmia, Anosmia	OMIM:243000
Vipoma	Neoplasm of the pancreas, Follicular thyroid carcinoma, Elevated circulating growth hormone conce...	ORPHA:97282
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Sp...	ORPHA:158061
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Tracheoesophageal fistula, Cleft palate, Mult...	ORPHA:861
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Cockayne Syndrome Type 3	Dense calcifications in the cerebellar dentate nucleus, Astrocytosis	ORPHA:90324
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries	ORPHA:371428
Somatostatinoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati...	ORPHA:97283
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Emotional lability, Abnormal repetitive mannerisms, Dysphagia	ORPHA:79264
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Sirenomelia	Ambiguous genitalia, Spina bifida, Sirenomelia	ORPHA:3169
Combined Oxidative Phosphorylation Deficiency 19	Mitochondrial swelling	OMIM:615595
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp...	OMIM:614129
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Hepatosplenom...	OMIM:606003
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ...	OMIM:268400
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Superficial Siderosis	Partial anosmia, Subarachnoid hemorrhage, Anosmia, Dementia, Cognitive impairment, Memory impairm...	ORPHA:247245
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	ORPHA:313892
Malt Lymphoma	B-cell lymphoma, Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy, ...	ORPHA:52417
Meningioma	Cerebral hemorrhage, Hydrocephalus, Abnormality of the sense of smell, Emotional lability, Transi...	ORPHA:2495
Parkinson Disease 8, Autosomal Dominant	Hyposmia, Dementia	OMIM:607060
Adams-Oliver Syndrome 6	Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension	OMIM:616589
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Abnormality of the sense of smell	OMIM:616113
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac...	OMIM:617600
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Portal h...	OMIM:615688
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Sacral lipoma	OMIM:600145
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Abnormal repetitive mannerisms, Self-mutilation, Depression	ORPHA:457240
Camptodactyly Syndrome, Guadalajara Type 1	Intrauterine growth retardation, Spina bifida	ORPHA:1327
Early-Onset Autosomal Dominant Alzheimer Disease	Abnormal social behavior, Agitation, Disinhibition	ORPHA:1020
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Anosmia	OMIM:601152
Supranuclear Palsy, Progressive, 1	Gliosis, Astrocytosis	OMIM:601104
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Abnormali...	ORPHA:84064
Kaposiform Lymphangiomatosis	Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic system, Hepatosple...	ORPHA:464329
Pilomatrixoma	Pilomatrixoma	OMIM:132600
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am...	ORPHA:289548
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomeg...	ORPHA:829
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly...	OMIM:235255
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Thrombocytosis, Impaired neutrophil chemotaxis, Perianal abscess, Leukocy...	ORPHA:2968
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Frontal balding, Synophrys, Hypoplasia of the uterus, Facial hirsutism, High anter...	ORPHA:247768
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male...	ORPHA:168558
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape	ORPHA:543470
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Malakoplakia	Follicular hyperplasia, Orchitis, Neoplasm of the rectum, Prostate neoplasm, Neoplasm of the colon	ORPHA:556
Acromelic Frontonasal Dysplasia	Encephalocele, Anterior pituitary hypoplasia, Midline central nervous system lipomas, Cryptorchid...	ORPHA:1827
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Lymphadenopathy, Achalasia	ORPHA:3386
Dermatomyositis	Abnormal hair quantity, Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neoplasm, Lung...	ORPHA:221
Chromomycosis	Multiple cutaneous malignancies, Squamous cell carcinoma	ORPHA:182
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t...	OMIM:208540
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
Rett Syndrome, Congenital Variant	Tongue thrusting, Irritability, Impaired social interactions, Bruxism, Abnormal repetitive manner...	OMIM:613454
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Repetitive compulsive behavior, Bruxism, Depression, Hostility, Dysphagia, Abnormal repetitive ma...	OMIM:300260
Osteogenic Sarcoma	Retinoblastoma, Osteosarcoma	OMIM:259500
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Esophageal stricture, Squamous cell carcinoma, Anemia, Gastroe...	ORPHA:89842
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Eso...	ORPHA:264580
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Ambiguous genitalia, male, Decreased serum estradiol, Decreased circula...	ORPHA:90796
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Satoyoshi Syndrome	Abnormal hair morphology, Hypoplasia of the uterus, Sparse or absent eyelashes, Hypoplasia of the...	ORPHA:3130
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Czeizel-Losonci Syndrome	Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta	ORPHA:2437
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Anosmia	OMIM:614842
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting	ORPHA:3306
Alazami Syndrome	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh...	ORPHA:319671
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei...	ORPHA:3202
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Depression	ORPHA:98784
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Iron deficiency anemia, Colitis, Neutropenia, Hypothyroidism, Hyperthyroidism, Autoimmune thrombo...	ORPHA:37042
Acro-Renal-Mandibular Syndrome	Abnormality of the sense of smell	ORPHA:958
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, High palate, Lymphopenia	OMIM:605309
Coffin-Siris Syndrome 6	Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder	OMIM:617808
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P...	ORPHA:731
Cri-Du-Chat Syndrome	Hyperactivity, Aggressive behavior, Abnormal repetitive mannerisms, Self-mutilation, Oppositional...	OMIM:123450
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Xerostomia, Lymphadenopathy, Enl...	ORPHA:79078
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Emotional lability, Agitation, Abnormal repetitive mannerisms	ORPHA:927
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, T lymphocytopenia, Lymph node hypo...	OMIM:300755
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Capillary Malformation-Arteriovenous Malformation	Hemangioma, Cerebral arteriovenous malformation, Facial capillary hemangioma	ORPHA:137667
Blepharophimosis-Impaired Intellectual Development Syndrome	Abnormal repetitive mannerisms, Low frustration tolerance, Attention deficit hyperactivity disord...	OMIM:619293
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Anosmia	OMIM:614839
Bilateral Frontoparietal Polymicrogyria	Hypoplasia of the pons, Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Cerebellar ...	ORPHA:101070
Immunodeficiency 55	Absent natural killer cells, Myelodysplasia, Lymphadenopathy, Neutropenia, Lymphopenia	OMIM:617827
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	ORPHA:208447
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Kallmann Syndrome	Hyposmia, Cryptorchidism, Anosmia, Decreased testicular size	ORPHA:478
Sotos Syndrome	Sacrococcygeal teratoma, Astrocytoma, Aganglionic megacolon, Hypospadias, Phimosis, Small cell lu...	ORPHA:821
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Renal neoplasm, Retinal hamartoma, Renal angiomyolipoma, Abnormality...	ORPHA:538
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Peptic ulcer, Elevated circulating growth hormone conc...	ORPHA:2796
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Pica, Irritability, Obsessive-compulsive trait, Abnormal repetitive mannerisms	OMIM:617796
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv...	OMIM:300986
Developmental And Epileptic Encephalopathy 6B	Abnormal repetitive mannerisms	OMIM:619317
Glucagonoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati...	ORPHA:97280
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomega...	OMIM:610199
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp...	ORPHA:567983
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Potocki-Lupski Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	OMIM:610883
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestas...	OMIM:615895
Campomelic Dysplasia	Depressed nasal bridge, Abnormality of the sense of smell	ORPHA:140
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Intestinal malrotation, Adrenal hypoplasia, Cryptorchidism, Cle...	ORPHA:2166
Amoebiasis Due To Free-Living Amoebae	Restlessness, Confusion, Irritability, Hyposmia, Arrhythmia	ORPHA:68
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ...	OMIM:102700
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
48,Xxyy Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Depression	ORPHA:10
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Cranial nerve compression, Paraganglioma	ORPHA:94080
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Lipoma, Splenomegaly, Nephroblastoma	OMIM:612918
Phace Syndrome	Visceral angiomatosis, Hypothyroidism, Capillary hemangioma, Ectopic thyroid	ORPHA:42775
Hydatidiform Mole	Hyperthyroidism, Enlarged uterus, Anemia	ORPHA:99927
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Hyposmia, Cryptorchidism, Abnormal repetitive mannerisms, Heart murmur	OMIM:618653
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Abnormal repetitive mannerisms	OMIM:619092
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Intellectual Developmental Disorder, Autosomal Recessive 71	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior	OMIM:618430
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Abnormal repetitive mannerisms	OMIM:613443
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Kindler Epidermolysis Bullosa	Phimosis, Esophageal stricture, Neoplasm of the urethra, Squamous cell carcinoma, Inflammation of...	ORPHA:2908
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Retinal hamartoma, Neoplasm of the thymus, Enlarged poly...	ORPHA:744
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Aggressive behavior, Low frustration tolerance, Obsessive-compulsive trait, Abnorm...	ORPHA:168491
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Hereditary Acrokeratotic Poikiloderma	Abnormality of the gastrointestinal tract, Abnormal preputium morphology, Xerostomia, Squamous ce...	ORPHA:2907
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Abnormal repetitive mannerisms, Overfriendliness	OMIM:616579
Leopard Syndrome 1	Bundle branch block, Cryptorchidism, Depressed nasal ridge, Third degree atrioventricular block, ...	OMIM:151100
8P11.2 Deletion Syndrome	Cryptorchidism, Anosmia, Azoospermia, Depressed nasal bridge	ORPHA:251066
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:411986
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms	ORPHA:228384
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus	OMIM:146255
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism	OMIM:618004
Coffin-Siris Syndrome 7	Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors	OMIM:618027
Moebius Syndrome	Dysphagia, Abnormality of the sense of smell	ORPHA:570
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,...	OMIM:263200
Fountain Syndrome	Spina bifida occulta, Spina bifida	ORPHA:3219
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms	OMIM:301094
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:602782
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Bifid uvula, Aplasia/hypo...	ORPHA:672
Igg4-Related Ophthalmic Disease	Cholangitis, Eosinophilia, Orchitis, Retroperitoneal fibrosis, Abnormality of the anterior pituit...	ORPHA:449563
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Chromosome 15Q11.2 Deletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impaired social interac...	OMIM:615656
Pagod Syndrome	Encephalocele, Spina bifida, Meningocele, Agonadism, Abnormality of the uterus, Ambiguous genital...	ORPHA:991
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics	OMIM:619725
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cryptorchidism, Anosmia, Single naris, Absent nares, Hyposmia	ORPHA:2250
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Limb-Mammary Syndrome	Alopecia, Absent nipple, Cleft hard palate, Sparse eyebrow, Cleft palate, Bilateral breast hypopl...	ORPHA:69085
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Neoplasm of the skin	ORPHA:53715
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mutilation	OMIM:300486
Cerebral Creatine Deficiency Syndrome 1	Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit hyperactivity dis...	OMIM:300352
4Q21 Microdeletion Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:238750
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Sparse eyebrow, Low ...	ORPHA:1521
Developmental And Epileptic Encephalopathy 66	Abnormal repetitive mannerisms	OMIM:618067
Cap Polyposis	Hematochezia, Atrophic gastritis, Colorectal polyposis	ORPHA:160148
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect	OMIM:614424
Wilson Disease	Hyposmia, Aminoaciduria, Dementia, Dysphagia	OMIM:277900
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hyposmia	OMIM:616488
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Bicornuate uterus	OMIM:601076
Dentici-Novelli Neurodevelopmental Syndrome	Abnormal repetitive mannerisms	OMIM:619877
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ...	OMIM:617061
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior	OMIM:618914
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism, Erythroid hypoplas...	OMIM:612541
Intellectual Developmental Disorder, Autosomal Dominant 34	Abnormal repetitive mannerisms, Bruxism	OMIM:616351
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Premature ...	ORPHA:90794
Cerebrocostomandibular Syndrome	Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly	ORPHA:1393
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Delayed puberty, ...	OMIM:232220
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ...	ORPHA:2237
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, B-cell lymphoma, Gastriti...	OMIM:619381
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida, Ambiguous genitalia	ORPHA:2839
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Bifid uvula, A...	OMIM:620186
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Cryptorchidism, Anosmia, Portal hypertension	OMIM:609136
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:397612
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele	ORPHA:2031
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Abnormal repetitive mannerisms	OMIM:617751
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Self-injurious behavior, Irritability, Tics, Abnormal repetit...	OMIM:616364
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors	OMIM:613174
Proximal 16P11.2 Microdeletion Syndrome	Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit hyperactivity dis...	ORPHA:261197
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, ...	OMIM:617591
Oeis Complex	Intestinal malrotation, Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Ve...	OMIM:258040
Perrault Syndrome 4	Hypoplasia of the uterus, Increased circulating gonadotropin level, Bicornuate uterus, Hypoplasia...	OMIM:615300
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Lateral Meningocele Syndrome	Umbilical hernia, Meningocele, Cryptorchidism	ORPHA:2789
Nmda Receptor Encephalitis	Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the...	ORPHA:217253
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Phelan-Mcdermid Syndrome	Aggressive behavior, Tongue thrusting, Impaired social interactions, Bruxism, Abnormal repetitive...	OMIM:606232
Parkes Weber Syndrome	Hemangiomatosis, Cerebral arteriovenous malformation	ORPHA:90307
Radio-Tartaglia Syndrome	Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Abnormal r...	OMIM:619312
Mosaic Trisomy 9	Hypoplasia of penis, Spina bifida, Cryptorchidism, Abnormality of the uterus, Abnormal fallopian ...	ORPHA:99776
Trichorhinophalangeal Syndrome, Type Ii	Osteochondroma, Sparse scalp hair, Cerebral arteriovenous malformation, Bilateral cryptorchidism,...	OMIM:150230
Satoyoshi Syndrome	Hypoplasia of the uterus, Alopecia, Alopecia universalis	OMIM:600705
Vacterl With Hydrocephalus	Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopian tube morphol...	ORPHA:3412
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec...	OMIM:306955
Primary Hepatic Neuroendocrine Carcinoma	Neoplasm of the lung, Neoplasm of the nervous system, Increased serum serotonin, Neoplasm of the ...	ORPHA:100085
Familial Mediterranean Fever	Acute hepatic failure, Intestinal obstruction, Malabsorption, Orchitis, Splenomegaly, Peritonitis...	ORPHA:342
Charge Syndrome	Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Cryptorchidism, Anosmia, Holoprosen...	ORPHA:138
48,Xxxy Syndrome	Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres...	ORPHA:96263
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Abnormality of the gastrointestinal tract, Generaliz...	ORPHA:50918
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Ritscher-Schinzel Syndrome 4	Impulsivity, Abnormal repetitive mannerisms, Dysphagia, Aggressive behavior	OMIM:619435
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Increased stool urobilinogen concentration, Scar...	ORPHA:79277
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Hydrocephalus, Anencephaly, Occipital meningocele, Micropenis	OMIM:616546
Lateral Meningocele Syndrome	Umbilical hernia, Hydrocephalus, Meningocele, Cryptorchidism	OMIM:130720
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism...	OMIM:619103
22Q11.2 Duplication Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1727
Snijders Blok-Campeau Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618205
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Emotional lability, Delayed early-childhood social milestone development, Abnormal repetitive man...	ORPHA:300570
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormal repetitive mannerisms, Inappropriate laughter	OMIM:615802
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Abnormal repetitive mannerisms	OMIM:617807
Igg4-Related Submandibular Gland Disease	Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Prostatiti...	ORPHA:449432
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Agenesis of corpus callosum, Vaginal atresia	OMIM:617914
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Cleft soft palate, Cleft palate, Bifid uterus	ORPHA:2736
Trisomy 20P	Hypospadias, Spina bifida, Cryptorchidism, Macroorchidism, Umbilical hernia	ORPHA:261318
Chromosome 17P13.1 Deletion Syndrome	Hydrocele testis, Umbilical hernia, Hydrocephalus, Spina bifida	OMIM:613776
Cloacal Exstrophy	Hypoplasia of penis, Spina bifida, Myelomeningocele, Abnormality of the clitoris, Abnormal fallop...	ORPHA:93929
Meckel Syndrome 12	Hypoplasia of the uterus, Agenesis of corpus callosum, Vaginal atresia	OMIM:616258
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased ser...	OMIM:608594
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph...	ORPHA:2369
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Cryptorchidism, Anosmia	OMIM:619718
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Abnormal repetitive mannerisms, Dysphagia	OMIM:617802
Neuroendocrine Tumor Of The Colon	Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor	ORPHA:100080
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal repetitive mannerisms	ORPHA:500159
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ...	OMIM:276700
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Spina bifida	OMIM:616038
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Abnormal repetitive mannerisms	OMIM:619428
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:619121
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen...	OMIM:154230
Prader-Willi Syndrome Due To Translocation	Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp...	ORPHA:177907
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas...	OMIM:269700
Occipital Horn Syndrome	Dysphagia, Abnormality of the sense of smell	ORPHA:198
Transketolase Deficiency	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	ORPHA:488618
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Elevated circulating luteinizing hormone level, Highly arched eyebrow, Sparse e...	OMIM:618419
Smith-Magenis Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:819
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal repetitive mannerisms, Low frustration tolerance, Abnormal temper tantrums, Aggressive b...	ORPHA:457279
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Anal atresia, Bifid uterus	OMIM:617466
Estrogen Resistance Syndrome	Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le...	ORPHA:785
Congenital Tricuspid Stenosis	Carcinoid tumor	ORPHA:95459
Intellectual Developmental Disorder, Autosomal Dominant 38	Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms	OMIM:616393
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypogonadism, Microcolon	ORPHA:163746
Waardenburg Syndrome, Type 1	Myelomeningocele, Aplasia of the vagina, Spina bifida	OMIM:193500
Trisomy 18	Spina bifida, Cryptorchidism, Anencephaly, Holoprosencephaly, Intrauterine growth retardation, Ab...	ORPHA:3380
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Thyroid hypoplasia, Congenital hypothyroidism	ORPHA:521445
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Bosma Arhinia Microphthalmia Syndrome	Cryptorchidism, Anosmia, Choanal atresia, Aplasia of the nose	OMIM:603457
Phocomelia, Schinzel Type	Hypoplasia of penis, Cryptorchidism, Meningocele, Aplasia of the uterus, Intrauterine growth reta...	ORPHA:2879
Focal Dermal Hypoplasia	Umbilical hernia, Papilloma, Spina bifida, Giant cell tumor of bone	ORPHA:2092
Stüve-Wiedemann Syndrome	Hypothyroidism, Smooth tongue, Ectopic thyroid	ORPHA:3206
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Hydroxykynureninuria	Abnormal repetitive mannerisms	ORPHA:79155
Waardenburg Syndrome, Type 2E	Anosmia	OMIM:611584
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Hydrometrocolpos, Aplasia of the epiglottis, Hamartoma, Vaginal atresia	OMIM:617088
Cystinosis	Polydipsia, Abnormal repetitive mannerisms	ORPHA:213
Fanconi Anemia	Hypospadias, Spina bifida, Abnormal preputium morphology, Myelodysplasia, Cryptorchidism, Hydroce...	ORPHA:84
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal rep...	ORPHA:476126
Waardenburg Syndrome, Type 4C	Cryptorchidism, Anosmia	OMIM:613266
Neuroendocrine Tumor Of The Rectum	Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor	ORPHA:100082
Rett Syndrome	Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing	ORPHA:778
Fanconi Anemia, Complementation Group L	Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Bone marrow hypocellularity, Aplasia...	OMIM:614083
Fg Syndrome Type 1	Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors	ORPHA:93932
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Anal fissure, Gastrointestinal inflammation, Squamous cell carcinoma, Iron deficiency anemia, Bas...	ORPHA:79408
Kleefstra Syndrome 1	Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior	OMIM:610253
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Meningocele, Hypospadias, Supernumerary nipple	ORPHA:397715
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia	OMIM:300952
Neu-Laxova Syndrome	External genital hypoplasia, Spina bifida, Hypogonadism, Ambiguous genitalia, Intrauterine growth...	ORPHA:2671
Lathosterolosis	Intrauterine growth retardation, Hypoplasia of penis, Meningocele	ORPHA:46059
Gallbladder Neuroendocrine Tumor	Neoplasm of the nervous system, Neuroendocrine neoplasm	ORPHA:100086
Congenital Disorder Of Glycosylation, Type Iia	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Aggressive behavior	OMIM:212066
Rauch-Steindl Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619695
Metachromatic Leukodystrophy, Late Infantile Form	Emotional lability, Abnormal social behavior	ORPHA:309256
Lacrimoauriculodentodigital Syndrome	Choanal atresia, Cryptorchidism, Anosmia, Dysphagia, Corneal neovascularization	ORPHA:2363
3P25.3 Microdeletion Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:435638
Neuroendocrine Tumor Of Stomach	Increased circulating ACTH level, Increased serum serotonin, Paraganglioma, Atypical pulmonary ca...	ORPHA:100075
Orofaciodigital Syndrome Vi	Occipital meningocele, Hypothalamic hamartoma, Hamartoma of tongue	OMIM:277170
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Acute myelomonocytic leukemia, Multiple enchondromatosis, Cavernous hemangioma of the face, Caver...	ORPHA:99646
2Q37 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1001
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal repetitive mannerisms	ORPHA:261144
Metachromatic Leukodystrophy, Juvenile Form	Emotional lability, Abnormal social behavior	ORPHA:309263
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hemolytic anemia, Decreased response to growth hormone stimulation test, Portal hypertension, Fet...	OMIM:619503
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
7Q11.23 Microduplication Syndrome	Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Self-injurious behavior, Impaired ...	ORPHA:96121
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Facial capillary hemangioma, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Clef...	OMIM:274000
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Chromosome 17Q12 Deletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, High ...	OMIM:614527
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,...	OMIM:613471
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms	ORPHA:447997
Van Esch-O'Driscoll Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Shyness	OMIM:301030
Den Hoed-De Boer-Voisin Syndrome	Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing, Dysphagia	OMIM:619229
Cardiac-Urogenital Syndrome	Bifid scrotum, Accessory spleen, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidis...	OMIM:618280
Neu-Laxova Syndrome 1	Spina bifida, Bifid uterus, Cryptorchidism, Stillbirth, Short umbilical cord, Small placenta, Neo...	OMIM:256520
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Abnormal repet...	ORPHA:468678
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal hair whorl, Aplasia of the vagina, Agenesis of corpus callosum, Aplasia of the uterus	ORPHA:457284
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Restrictive behavior, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha...	OMIM:619475
Metachromatic Leukodystrophy, Adult Form	Emotional lability, Abnormal social behavior, Depression	ORPHA:309271
Johanson-Blizzard Syndrome	Anteriorly placed anus, Hepatic fibrosis, Micropenis, Hypothyroidism, Hepatomegaly, Hypospadias, ...	OMIM:243800
Sarcoidosis	Increased T cell count, Leukopenia, Hypothyroidism, Hemolytic anemia, Hepatomegaly, Hyperthyroidi...	ORPHA:797
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microphallus, Absent ...	ORPHA:284339
Charge Syndrome	Choanal atresia, Cryptorchidism, Anosmia, Holoprosencephaly, Pulmonic stenosis, Dysphagia, Self-m...	OMIM:214800
Kleefstra Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutilation, Aggressive behavior	ORPHA:261494
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Hypoplasia of the uterus, Colpocephaly, Chordee, Micropenis, Agenesis of ...	OMIM:309801
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Nail-Patella Syndrome	Spina bifida	OMIM:161200
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Thyroid hypoplasia, Adrenal hypoplasia	OMIM:308050
Bainbridge-Ropers Syndrome	Self-injurious behavior, Recurrent hand flapping, Abnormal repetitive mannerisms	OMIM:615485
Coffin-Siris Syndrome 1	Sparse scalp hair, Dry hair, Clitoral hypertrophy, Duodenal ulcer, Intestinal malrotation, Hyposp...	OMIM:135900
Fibular Hemimelia	Spina bifida, Abnormal heart morphology	ORPHA:93323
Meckel Syndrome 14	Ambiguous genitalia, Aplasia of the uterus	OMIM:619879
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Cardiac conduction abnormality, Cryptorchidism, ...	ORPHA:353281
Wiedemann-Steiner Syndrome	Hyperactivity, Aggressive behavior, Low frustration tolerance, Dysphagia, Abnormal repetitive man...	ORPHA:319182
Joubert Syndrome 6	Abnormal repetitive mannerisms	OMIM:610688
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Head-banging, Self-injurious behavior, Attention deficit hyperactivity disorder, Frequent temper ...	OMIM:619575
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:457351
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Irritability, Compulsive behaviors, Dysph...	OMIM:615873
Hallermann-Streiff Syndrome	Cryptorchidism, Spina bifida	OMIM:234100
Koolen-De Vries Syndrome Due To A Point Mutation	Hypospadias, Decreased response to growth hormone stimulation test, Spina bifida, Testicular neop...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Spina bifida, Testicular neop...	ORPHA:363958
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Occipi...	ORPHA:567
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus	ORPHA:3320
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati...	OMIM:609441
Exstrophy-Epispadias Complex	Abnormality of the gastrointestinal tract, Bifid scrotum, Anal stenosis, Bifid uterus, Cryptorchi...	ORPHA:322
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Dysmetria, Positive Romberg sign, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia...	ORPHA:314647
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Anal atresia, Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Megalocornea-Intellectual Disability Syndrome	Abnormal repetitive mannerisms	ORPHA:2479
Wolf-Hirschhorn Syndrome	Accessory spleen, Hypospadias, Highly arched eyebrow, Precocious puberty, Cryptorchidism, Malrota...	OMIM:194190
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal defect, Perimembranou...	ORPHA:508498
Microphthalmia, Syndromic 9	Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s...	OMIM:601186
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Cardiac c...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Cardiac c...	ORPHA:353277
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting	ORPHA:522077
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:496641
Woodhouse-Sakati Syndrome	Alopecia, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallop...	OMIM:241080
Jacobsen Syndrome	Intrauterine growth retardation, Annular pancreas, Spina bifida, Cryptorchidism	ORPHA:2308
Pitt-Hopkins Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:610954
Dihydropyrimidine Dehydrogenase Deficiency	Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior	ORPHA:1675
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus, Increased circulating gonadotropin level, Highly arched eyebrow, Sparse...	OMIM:110100
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Developmental And Epileptic Encephalopathy 2	Abnormal repetitive mannerisms	OMIM:300672
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone st...	ORPHA:3464
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Abnormal ...	OMIM:619512
Mend Syndrome	Hyperactivity, Abnormal social behavior, Aggressive behavior	ORPHA:401973
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Bifid uterus, Cleft palate, Adrenal gland dysgenesis, Abnormal vag...	OMIM:236680
Niemann-Pick Disease, Type C2	Abnormal repetitive mannerisms, Dysphagia	OMIM:607625
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder	OMIM:619005
Niemann-Pick Disease Type C	Aggressive behavior, Depression, Disinhibition, Low frustration tolerance, Compulsive behaviors, ...	ORPHA:646
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte...	OMIM:620330
Campomelic Dysplasia	Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Sex reversal	OMIM:114290
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Intestinal malrotation, Bifid uterus, Splenomega...	ORPHA:2729
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Abnormal repetitive mannerisms	OMIM:301040
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Abnormal repetitive mannerisms	ORPHA:508533
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus, Spina bifida	OMIM:619480
Norrie Disease	Cryptorchidism, Erectile dysfunction, Uterine rupture, Neoplasm of the eye, Vascular neoplasm	ORPHA:649
Kinsship Syndrome	Abnormal repetitive mannerisms, Bruxism	OMIM:619297
Vater/Vacterl Association	Occipital encephalocele, Hypospadias, Spina bifida, Patent urachus, Intrauterine growth retardation	OMIM:192350
Townes-Brocks Syndrome 1	Bifid scrotum, Anal stenosis, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, T...	OMIM:107480
Telangiectasia, Hereditary Hemorrhagic, Type 4	Cerebral arteriovenous malformation	OMIM:610655
Renal Cysts And Diabetes Syndrome	Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Pancreatic hypoplasia,...	OMIM:137920
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p...	OMIM:276820
Developmental And Epileptic Encephalopathy 100	Abnormal repetitive mannerisms, Dysphagia	OMIM:619777
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Abnormal repetitive mannerisms, Aggressive behavior	OMIM:301066
Mucopolysaccharidosis Type 2	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal temper tantrums, Abnormal repetitive ma...	ORPHA:580
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hig...	ORPHA:572333
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:464311
Oculocerebrorenal Syndrome Of Lowe	Depression, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disord...	ORPHA:534
Knobloch Syndrome 1	Occipital meningocele, Occipital encephalocele, Spina bifida occulta	OMIM:267750
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:468631
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Abnormal repetitive mannerisms	ORPHA:464306
Arima Syndrome	Occipital meningocele	OMIM:243910
Otopalatodigital Syndrome, Type Ii	Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Umbilical hernia	OMIM:304120
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Alopecia of...	OMIM:130050
Marfan Syndrome	Mitral valve calcification, Meningocele, Mitral valve prolapse	ORPHA:558
Ogden Syndrome	Irritability, Abnormal repetitive mannerisms, Dysphagia	OMIM:300855
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist...	OMIM:201750
Telangiectasia, Hereditary Hemorrhagic, Type 2	Cerebral arteriovenous malformation	OMIM:600376
Hypotonia, Ataxia, And Delayed Development Syndrome	Abnormal repetitive mannerisms, Dysphagia	OMIM:617330
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Repetitive compulsive behavior, Stereotypical body rocking, Abnormal repetitive mannerisms	ORPHA:513456
Telangiectasia, Hereditary Hemorrhagic, Type 1	Cerebral arteriovenous malformation	OMIM:187300
Arboleda-Tham Syndrome	Abnormal repetitive mannerisms, Dysphagia	OMIM:616268
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Abnormal repetitive mannerisms	OMIM:309590
Pallister-Killian Syndrome	Small scrotum, Anteriorly placed anus, Sparse hair, Bifid uvula, Alopecia, Hypospadias, Sparse ey...	OMIM:601803
1P36 Deletion Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Polyphagia, Dysphagia	ORPHA:1606
Loeys-Dietz Syndrome	High palate, Bifid uvula, Uterine rupture	ORPHA:60030
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:614756
Vascular Ehlers-Danlos Syndrome	Alopecia, Hypospadias, Abnormality of hair texture, Abnormal eyelash morphology, High, narrow pal...	ORPHA:286
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Abnormal repetitive mannerisms	OMIM:301044
Williams Syndrome	Depression, Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social behav...	ORPHA:904
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:612474
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Abnormal repetitive mannerisms	OMIM:616682
Lowe Oculocerebrorenal Syndrome	Abnormal repetitive mannerisms, Aggressive behavior	OMIM:309000
Primrose Syndrome	Restlessness, Aggressive behavior, Self-injurious behavior, Tics, Attention deficit hyperactivity...	OMIM:259050
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia	OMIM:619522

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pten

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pten.

No publications found that use IMPC mice or data for Pten.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Pten^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Pten^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pten^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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