Gene: Mcm2 MGI:105380

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

minichromosome maintenance complex component 2

Synonyms:

Mcmd2, BM28, CDCL1

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 Mcm2 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 Mcm2 (1 diseases)
Human diseases predicted to be associated with Mcm2 (892 diseases)

The table below shows human diseases associated to Mcm2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Deafness, Autosomal Dominant 70			OMIM:616968

The table below shows human diseases predicted to be associated to Mcm2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Anemia, Steroid-responsive anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Pure red cell aplasia, Steroid-responsive anemia	OMIM:617911
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Axin2-Related Attenuated Familial Adenomatous Polyposis	Colorectal polyposis, Abnormal odontoid tissue morphology, Neoplasm of the rectum, Colon cancer, ...	ORPHA:401911
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Cronkhite-Canada Syndrome	Generalized hyperpigmentation, Neoplasm, Hepatomegaly, Furrowed tongue, Splenomegaly, Sparse body...	ORPHA:2930
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Fanconi Anemia, Complementation Group G	Anemia, Abnormality of chromosome stability, Thrombocytopenia, Neutropenia, Leukemia	OMIM:614082
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Good Syndrome	Thymoma, Anemia, Bronchiectasis, Aplasia/Hypoplasia of the thymus, Fatigable weakness, Diabetes m...	ORPHA:169105
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Abnormality of chromosome stability, Pancytopenia	OMIM:600546
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies	OMIM:140700
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Desmoid Disease, Hereditary	Breast carcinoma, Colon cancer, Colorectal polyposis, Desmoid tumors	OMIM:135290
Birt-Hogg-Dube Syndrome	Multiple lipomas, Fibrofolliculoma, Large intestinal polyposis, Renal cell carcinoma, Sebaceous h...	OMIM:135150
Mismatch Repair Cancer Syndrome 4	Astrocytoma, Colon cancer, Multiple cafe-au-lait spots, Glioblastoma multiforme, Adenomatous colo...	OMIM:619101
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Alopecia, Asplenia, Cirrhosis, Hypothyroidism, Hyperthyroidism, Hepatitis, Exocrine panc...	OMIM:269200
Polyposis Syndrome, Hereditary Mixed, 2	Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic polyposis, Adenomatous colonic pol...	OMIM:610069
Myasthenia Gravis	Thymoma, Proximal muscle weakness, Fatigable weakness, Dysphagia, Abnormality of the endocrine sy...	OMIM:254200
Multiple Endocrine Neoplasia Type 4	Peptic ulcer, Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypogly...	ORPHA:276152
Autoimmune Polyendocrinopathy Type 4	Thymoma, Alopecia, Biliary cirrhosis, Atrophic gastritis, Leukopenia, Non-caseating epithelioid c...	ORPHA:227990
Autoimmune Polyendocrinopathy Type 3	Biliary cirrhosis, Primary adrenal insufficiency, Celiac disease, Graves disease, Vitiligo, Aplas...	ORPHA:227982
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Gastric diverticulum, Breast carcinoma, Colorectal polyposis, Bladder ...	ORPHA:157798
Hypotrichosis 1	Sparse body hair, Sparse eyebrow, Sparse axillary hair, Sparse pubic hair, Sparse eyelashes, Spar...	OMIM:605389
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Anemia, Pancytopenia, Thrombocytopenia, Chromosomal breakage induced by c...	OMIM:616435
Delta-Beta-Thalassemia	Anemia, Abnormal hemoglobin, Microcytic anemia	ORPHA:231237
Addison Disease	Decreased circulating aldosterone level, Decreased circulating cortisol level, Primary adrenal in...	ORPHA:85138
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Familial Adenomatous Polyposis 2	Colon cancer, Adenomatous colonic polyposis	OMIM:608456
Multiple Endocrine Neoplasia Type 1	Pituitary thyrotropic cell adenoma, Peptic ulcer, Pituitary corticotropic cell adenoma, Neoplasm ...	ORPHA:652
Trichohepatoenteric Syndrome 2	Cirrhosis, Trichorrhexis nodosa, Villous atrophy, Brittle hair, Woolly hair, Chronic hepatitis, U...	OMIM:614602
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Neutropenia	OMIM:617243
Polyposis, Intestinal, With Multiple Exostoses	Multiple exostoses, Intestinal polyposis	OMIM:175450
Thymoma, Familial	Thymoma, Respiratory insufficiency, Neoplasm	OMIM:274230
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Anemia, Malabsorption, Gastrointestinal carcinoma, Glossitis, Muscle weakness, Nail dys...	OMIM:175500
Netherton Syndrome	Hypereosinophilia, Sparse eyebrow, Sparse scalp hair, Villous atrophy, Brittle hair, Asthma, Brit...	OMIM:256500
Alpha-Heavy Chain Disease	Lymphoma, Alopecia, Anemia, Malabsorption, Lymphadenopathy, Hepatomegaly, Abnormal small intestin...	ORPHA:100025
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
N Syndrome	Abnormality of chromosome stability, Leukemia	OMIM:310465
Ganglioneuroma	Colorectal polyposis, Multiple intestinal neurofibromatosis, Ganglioneuroma, Neoplasm of the adre...	ORPHA:251992
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Cafe-au-lait spot, Asthma, Gait disturbance, Hemangioma, Hypopigmented skin patches, ...	ORPHA:457485
Transcobalamin Deficiency	Abnormality of chromosome stability, Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Desmoid Tumor	Fibroma, Malabsorption, Neoplasm of the skin, Intestinal polyposis, Abnormality of retinal pigmen...	ORPHA:873
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis	OMIM:603529
Diarrhea 12, With Microvillus Atrophy	Microvillus inclusions, Bronchiectasis, Microvillar PAS-positive secretory granules, Villous atrophy	OMIM:619445
Hereditary Mixed Polyposis Syndrome	Juvenile colonic polyposis, Colorectal polyposis, Neoplasm of the gastrointestinal tract, Adenoca...	ORPHA:157794
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Abnormal intestine morphology, Villous atrophy	OMIM:251850
Immunodeficiency, Common Variable, 8, With Autoimmunity	Hypothyroidism, Bronchiectasis, Generalized lymphadenopathy, Recurrent sinusitis, Colitis, Vitili...	OMIM:614700
Lactose Intolerance, Adult Type	Lactose intolerance, Decreased small intestinal mucosa lactase level	OMIM:223100
Griscelli Syndrome, Type 1	Hypopigmentation of the skin, White eyelashes, White eyebrow, Accumulation of melanosomes in mela...	OMIM:214450
Hypotrichosis Simplex	Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse hair	ORPHA:55654
Carcinoma Of Esophagus	Gastroesophageal reflux, Esophageal neoplasm, Abnormal intestine morphology, Lymphadenopathy, Cou...	ORPHA:70482
Autoinflammation With Infantile Enterocolitis	Anemia, Reduced natural killer cell count, Enterocolitis, Villous atrophy, Pancytopenia, Thromboc...	OMIM:616050
Diarrhea 5, With Tufting Enteropathy, Congenital	Crypt hyperplasia, Villous atrophy	OMIM:613217
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Anemia, Hypothyroidism, Villous atrophy, Hepatitis, Coombs-positive hemolytic anemia, T...	OMIM:304790
Myasthenia, Limb-Girdle, Autoimmune	Thymoma, Ophthalmoparesis, Fatigable weakness, Hashimoto thyroiditis, Neoplasm	OMIM:159400
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Ataxia, Gait disturbance, Splenomegaly, Hepatomegaly	ORPHA:2274
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hypothyroidism, Decreased CD4:CD8 ratio, T lymphocytopenia, Villous atrophy, Hemolytic anemia, B ...	OMIM:606367
Witkop Syndrome	Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair	OMIM:189500
Hypotrichosis 11	Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars...	OMIM:615059
Paraneoplastic Pemphigus	Thymoma, Sarcoma, B-cell lymphoma	ORPHA:63455
Lynch Syndrome	Pancreatic adenocarcinoma, Benign neoplasm of the central nervous system, Flexion contracture, Ur...	ORPHA:144
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Fibroma, Neoplasm of the stomach, Colorectal polyposis, Astrocytoma, Adenocar...	ORPHA:220460
Polyposis, Intestinal, Scattered And Discrete	Discrete intestinal polyps	OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome	Serrated intestinal polyps	OMIM:617108
Refractory Celiac Disease	Lymphoma, Jejunitis, Villous atrophy, Malabsorption, Normocytic anemia, Abnormal spleen physiolog...	ORPHA:398063
Chronic Diarrhea Due To Glucoamylase Deficiency	Malabsorption, Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa ...	ORPHA:103907
Hirschsprung Disease	Functional abnormality of the gastrointestinal tract, Aganglionic megacolon, Intestinal polyposis...	ORPHA:388
Diarrhea 9	Villous atrophy	OMIM:618168
Odonto-Onycho Dysplasia-Alopecia Syndrome	Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Abnormal fingernail morphology,...	ORPHA:2722
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Duodenal polyposis, Anemia, Multiple gastric polyps, Small intestinal polyposis, Rectal polyposis...	ORPHA:329971
Gardner Syndrome	Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Thyroid nodule, Papillary thyroid...	ORPHA:79665
Nk-Cell Enteropathy	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,...	ORPHA:263665
Msh3-Related Attenuated Familial Adenomatous Polyposis	Papilloma, Stomach cancer, Colorectal polyposis, Astrocytoma, Multiple gastric polyps, Neoplasm o...	ORPHA:480536
Li-Fraumeni Syndrome	Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s...	ORPHA:524
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Villous atrophy	OMIM:615863
Cancer-Associated Retinopathy	Pancreatic adenocarcinoma, Thymoma, Prostate cancer, Uterine neoplasm, Neoplasm of the pancreas, ...	ORPHA:71505
Hypotrichosis 4	Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes	OMIM:146550
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Acute myeloid leukemia, Colon cancer, Adenomatous colonic polyposis	OMIM:246470
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy	OMIM:618662
Hidrotic Ectodermal Dysplasia	Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ...	ORPHA:189
Juvenile Polyposis Syndrome	Juvenile colonic polyposis, Hepatic arteriovenous malformation, Neoplasm of the gastrointestinal ...	ORPHA:2929
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Primary Intestinal Lymphangiectasia	Anemia, Increased stool alpha1-antitrypsin concentration, Reduced proportion of CD4+ effector mem...	ORPHA:90362
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Esophageal carcinoma, Thyroid nodule, Papillary thyroid carcinoma, Brea...	ORPHA:247806
Turcot Syndrome With Polyposis	Neoplasm of the central nervous system, Ependymoma, Hepatoblastoma, Soft tissue neoplasm, Glioma,...	ORPHA:99818
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Colorectal polyposis, Adenocarcinoma of the colon, Large intestinal polyposis, Desmoid tumors, Re...	ORPHA:247798
Bannayan-Riley-Ruvalcaba Syndrome	Lymphoma, Irregular hyperpigmentation, Narrow palate, Neoplasm of the adrenal cortex, Thyroid car...	ORPHA:109
Oliver-Mcfarlane Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Central heterochromia, Long eyeb...	OMIM:275400
Thymic Tumor	Neoplasm of the thymus, Fatigable weakness, Neuroendocrine neoplasm, Diaphragmatic paralysis, Dys...	ORPHA:100100
Immunodeficiency 31C	Hypothyroidism, Villous atrophy, Bronchiectasis, Intussusception, Lymphopenia, Impaired lymphocyt...	OMIM:614162
Secondary Short Bowel Syndrome	Central hypothyroidism, Enterocolitis, Villous atrophy, Small intestinal dysmotility, Malabsorpti...	ORPHA:95427
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Hypotrichosis 9	Sparse body hair, Sparse scalp hair	OMIM:614237
Hypotrichosis 10	Sparse body hair, Sparse eyelashes, Sparse eyebrow	OMIM:614238
Colorectal Cancer, Susceptibility To, 12	Carcinoma, Colorectal polyposis	OMIM:615083
Griscelli Syndrome, Type 2	Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil...	OMIM:607624
Thymic Carcinoma	Neoplasm of the thymus, Fatigable weakness, Diaphragmatic paralysis, Dyspnea, Cough, Mediastinal ...	ORPHA:99868
Oligodontia-Colorectal Cancer Syndrome	Sparse body hair, Breast carcinoma, Sparse scalp hair, Sparse axillary hair, Fundic gland polypos...	OMIM:608615
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Syndromic Diarrhea	Hypothyroidism, Hypoplasia of the thymus, Hepatoblastoma, Gastritis, Hepatomegaly, Colitis, Splen...	ORPHA:84064
Nijmegen Breakage Syndrome-Like Disorder	Chromosomal breakage induced by ionizing radiation	OMIM:613078
Griscelli Syndrome, Type 3	Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft	OMIM:609227
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Melanocytic nevus, Abnormal eyelash morpholo...	ORPHA:1818
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Bronchiectasis, Wheezing, Hepatocellular carcinoma, Chronic pulmonary obstruction, Dys...	OMIM:613490
Congenital Disorder Of Glycosylation, Type Id	Small nail, High palate, Flexion contracture, Villous atrophy, Joint contracture of the hand, Bif...	OMIM:601110
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Thin toenail, Sparse hair, Dystrophic toenail	OMIM:614928
Congenital Short Bowel Syndrome	Intestinal malrotation, Lipoatrophy, Sparse hair, Intestinal hypoplasia	ORPHA:2301
Congenital Disorder Of Glycosylation, Type Ib	Lymphangiectasis, Hepatic fibrosis, Cirrhosis, Villous atrophy, Steatorrhea, Hyperinsulinemic hyp...	OMIM:602579
Mantle Cell Lymphoma	Lymphadenopathy, B-cell lymphoma, Splenomegaly, Abnormality of the gastrointestinal tract	ORPHA:52416
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Abnormal eyebrow morphology, Aganglionic megacolon, Neoplasm of the ...	ORPHA:2885
Inflammatory Skin And Bowel Disease, Neonatal, 1	Onychogryposis, Paronychia, Villous atrophy, Duodenitis	OMIM:614328
Thymic Neuroendocrine Tumor	Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ...	ORPHA:97289
Peutz-Jeghers Syndrome	Esophageal neoplasm, Biliary tract neoplasm, Neoplasm, Intestinal obstruction, Cervix cancer, Pan...	ORPHA:2869
Dystonia 31	Abnormal posturing, Difficulty walking, Dysphagia	OMIM:619565
Peutz-Jeghers Syndrome	Breast carcinoma, Intussusception, Gastrointestinal carcinoma, Neoplasm of the pancreas, Multiple...	OMIM:175200
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Familial Adenomatous Polyposis 1	Fibroma, Hepatoblastoma, Papillary thyroid carcinoma, Multiple lipomas, Astrocytoma, Colon cancer...	OMIM:175100
Syndromic X-Linked Intellectual Disability 7	Sparse body hair, Muscle weakness, Hypogonadism, Cryptorchidism	ORPHA:85274
Familial Adenomatous Polyposis	Fibroma, Hypothyroidism, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal ...	ORPHA:733
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Gait disturbance, Fine hair, Ataxia, Inguinal hernia, Cryptorchidism, Sparse hair	ORPHA:1174
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Reduced terminal:vellus ratio, Sparse hair, Pili torti	OMIM:601553
Mccune-Albright Syndrome	Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidism, Increased cir...	OMIM:174800
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Ectodermal Dysplasia 9, Hair/Nail Type	Absent hair, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair, Nail dystrophy, Atrichia	OMIM:614931
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Increased susceptibility to spontaneous sister chromatid exchange	OMIM:618097
Gaucher Disease Type 2	Flexion contracture, Ophthalmoplegia, Respiratory distress, Abnormal pattern of respiration, Coug...	ORPHA:77260
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse body hair, Sparse scalp hair, Melanocytic nevus, Alopecia universalis, Abnormal eyelash mo...	ORPHA:1008
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio	OMIM:300448
Alopecia, Congenital	Alopecia, Sparse hair	OMIM:300042
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Myelodysplasia, Acute lymphoblastic leukemia, Hepatocellular carcinoma, H...	ORPHA:158057
Focal Facial Dermal Dysplasia 3, Setleis Type	Absent lower eyelashes, Anal atresia, Distichiasis, Sparse hair, Low anterior hairline	OMIM:227260
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Curly hair, Trichorrhexis nodosa, Cirrhosis, Villous atrophy, Brittle hair, Abn...	OMIM:222470
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Breast carcinoma, Renal oncocytoma, Papillary renal cell carcinom...	ORPHA:97290
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Sparse body hair, Alopecia, Dystrophic toenail, Hypopigmentation of the skin, Alopecia of scalp, ...	OMIM:617294
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Tiger tail banding, Ataxia, Sparse hair, High, narrow palate, Nail dystrophy	OMIM:619692
Congenital Tufting Enteropathy	Elevated fecal osmolality, Villous atrophy, Abnormal large intestinal mucosa morphology, Malabsor...	ORPHA:92050
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents, T-cell acute lymphob...	OMIM:605724
Cowden Syndrome 7	Papilloma, Breast carcinoma, Trichilemmoma, Ductal carcinoma in situ, Intestinal polyposis, Heman...	OMIM:616858
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Pearson Marrow-Pancreas Syndrome	Anemia, Villous atrophy, Reticulocytopenia, Malabsorption, Refractory sideroblastic anemia, Sider...	OMIM:557000
Schopf-Schulz-Passarge Syndrome	Apocrine hidrocystoma, Small nail, Poroma, Squamous cell carcinoma, Basal cell carcinoma, Thin na...	OMIM:224750
Cowden Syndrome 1	Breast carcinoma, Hypothyroidism, Colonic diverticula, High palate, Hyperthyroidism, Thyroiditis,...	OMIM:158350
Juvenile Nasopharyngeal Angiofibroma	Epistaxis, Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis	ORPHA:289596
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Knee flexion contracture, Widow's peak, Interphalangeal joint contracture of finger, Thick eyebro...	OMIM:606242
Mismatch Repair Cancer Syndrome 2	T-cell acute lymphoblastic leukemias, Colon cancer, Multiple cafe-au-lait spots, Glioblastoma mul...	OMIM:619096
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Premature graying of hair, Aganglionic megacolon, Synophrys, White e...	ORPHA:897
Cowden Syndrome 5	Breast carcinoma, Hypothyroidism, High palate, Colonic diverticula, Hyperthyroidism, Thyroiditis,...	OMIM:615108
Fanconi Anemia, Complementation Group J	Chromosomal breakage induced by crosslinking agents	OMIM:609054
Cowden Syndrome 6	Breast carcinoma, Hypothyroidism, High palate, Colonic diverticula, Hyperthyroidism, Thyroiditis,...	OMIM:615109
Anemia, Sideroblastic, 5	Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly, Myelodysplasia	OMIM:162830
Familial Melanoma	Neoplasm of the stomach, Neoplasm of the pancreas, Melanoma, Freckling, Abnormal hair morphology,...	ORPHA:618
Mosaic Variegated Aneuploidy Syndrome	Nephroblastoma, Stomach cancer, Hypothyroidism, Abnormality of skin pigmentation, Myelodysplasia,...	ORPHA:1052
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho...	ORPHA:766
Mismatch Repair Cancer Syndrome 1	Lymphoma, Medulloblastoma, Hypopigmentation of the skin, Adenocarcinoma of the small intestine, A...	OMIM:276300
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Myelodysplasia, Granulo...	ORPHA:75564
Proprotein Convertase 1/3 Deficiency	Malabsorption, Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Villous atrophy	OMIM:600955
Dyskeratosis Congenita, Autosomal Dominant 1	Premature graying of hair, Myelodysplasia, Bone marrow hypocellularity, Thrombocytopenia, Aplasti...	OMIM:127550
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, Bronchiectasis, Hepatosplenomegaly, Abnormal intestine morphology, Esophageal ...	ORPHA:391487
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Hepatomega...	OMIM:133180
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Pulmonary arterial hypertension, Gastroesophageal reflux, Abnormal posturing, Inguinal hernia, Cr...	OMIM:614857
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Breast carcinoma, Seborrheic keratosis, Duodenal adenocarcinoma, Neopl...	ORPHA:454840
Autoimmune Hemolytic Anemia, Cold Type	Hemolytic anemia, Muscle weakness, Dyspnea, Abnormal leukocyte morphology, Splenomegaly	ORPHA:228312
Immunodeficiency 85 And Autoimmunity	Reduced natural killer cell count, T lymphocytopenia, Villous atrophy, Lymphopenia, Decreased pro...	OMIM:619510
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Enamel hypoplasia, Anemia, Abnormality of skin pigmentation, Atrophic scars, Sc...	ORPHA:79402
Immunodeficiency 104	Gastroesophageal reflux, T lymphocytopenia, Lymphadenopathy, Hepatomegaly, Pneumonia, Splenomegaly	OMIM:608971
Iron-Refractory Iron Deficiency Anemia	Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis	OMIM:206200
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Ileoileal intussusception, Anemia, Microvesicular hepatic steatosis, Villous at...	OMIM:619377
Congenital Disorder Of Glycosylation, Type Ia	Hypothyroidism, Hepatic fibrosis, Flexion contracture, Villous atrophy, Abnormal subcutaneous fat...	OMIM:212065
Juvenile Polyposis Of Infancy	Anemia, High, narrow palate, Intussusception, Hematochezia, Hemangioma, Subcutaneous lipoma, Inte...	ORPHA:79076
Hodgkin Lymphoma	Lymphoma, Ataxia, Lymphadenopathy, Neoplasm, Dyspnea, Hepatomegaly, Cough, Splenomegaly	ORPHA:98293
Hereditary Hemorrhagic Telangiectasia	Pulmonary arterial hypertension, Pulmonary embolism, Cirrhosis, Visceral angiomatosis, Intestinal...	ORPHA:774
Griscelli Syndrome	Leukopenia, Abnormal eyebrow morphology, Premature graying of hair, Hepatitis, Iris hypopigmentat...	ORPHA:381
Grfoma	Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Increased circulating gonad...	ORPHA:97261
Cowden Syndrome	Fibroma, Melanocytic nevus, Neoplasm of the central nervous system, Melanoma, Neoplasm of the ski...	ORPHA:201
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, White e...	ORPHA:42665
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Absent eyelashes, Spotty hypopigmentation, Atrophic scars, Spotty hyperpi...	ORPHA:79133
Bare Lymphocyte Syndrome, Type Ii	Villous atrophy, Malabsorption, Biliary tract abnormality, Cholangitis, Viral hepatitis, Colitis,...	OMIM:209920
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, High palate, Spastic gait, Osteoma, Hepatoblastoma, Colon cancer, Airway obst...	ORPHA:261584
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Glossitis, Macroglossia, Fine hair, Neoplasm of the respiratory syst...	ORPHA:2221
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Papillary renal cell carcinoma, Nodular goiter, Neoplasm of head ...	ORPHA:319487
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Gastroesophageal reflux, Inability to walk, Central sleep apnea, Ataxia, Hepatic steatosis, Muscl...	ORPHA:70472
Radial-Renal Syndrome	Chromosome breakage	OMIM:179280
Ataxia-Telangiectasia	Premature graying of hair, Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Type II ...	ORPHA:100
Pyropoikilocytosis, Hereditary	Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis	OMIM:266140
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia	OMIM:206100
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Sparse axillary hair, Sparse pubic hair, Abnormality of the nail, Onychogrypos...	ORPHA:1808
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Elliptocytosis, Anemia of inadequate production, Hemolytic anemia	OMIM:166910
Benign Schwannoma	Abnormality of the liver, Abnormal parotid gland morphology, Facial palsy, Schwannoma, Intestinal...	ORPHA:252164
Waardenburg Syndrome Type 2	Premature graying of hair, Aganglionic megacolon, Hypopigmented skin patches, Hypopigmentation of...	ORPHA:895
Immunodeficiency 54	Chromosome breakage, Reduced natural killer cell count, Splenomegaly	OMIM:609981
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Neutropenia, Partial albinism	ORPHA:90023
Lactase Deficiency, Congenital	Lactose intolerance, Decreased small intestinal mucosa lactase level	OMIM:223000
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Camptodactyly of finger, Alopecia, Fingernail dysplasia, Ridged fingernail, Hypopigmented skin pa...	ORPHA:2251
Familial Adenomatous Polyposis 3	Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Duodenal adenocarcinoma, Basal cell...	OMIM:616415
Diamond-Blackfan Anemia 3	Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Bazex-Dupré-Christol Syndrome	Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, Basal cell carcinoma, Sparse...	ORPHA:113
Immunodeficiency 76	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Colitis,...	OMIM:619164
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he...	ORPHA:3203
Piebaldism	Piebaldism, White eyelashes, Aganglionic megacolon, Synophrys, White eyebrow, Neoplasm of the ski...	ORPHA:2884
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, Myelodysplasia, HbH hemoglobin, Dyspnea, Thrombocytopenia, Acute leukemia, Splenomeg...	ORPHA:231401
Cartilage-Hair Hypoplasia	Lymphoma, Sparse eyebrow, Congenital hypoplastic anemia, Anemia, Esophageal atresia, Malabsorptio...	OMIM:250250
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Classic Mycosis Fungoides	Lymphoma, Alopecia, Irregular hyperpigmentation, Abnormality of the nail, Neoplasm of the skin, H...	ORPHA:2584
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair	OMIM:616760
Colorectal Cancer	Neoplasm of the stomach, Uterine leiomyosarcoma, Renal cell carcinoma, Transitional cell carcinom...	OMIM:114500
Gist-Plus Syndrome	Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis	OMIM:175510
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse body hair, Sparse eyebrow, Sparse scalp hair, Jaundice, Scarring alopecia of scalp, Choles...	ORPHA:59303
Choroidal Atrophy-Alopecia Syndrome	Supernumerary nipple, Fine hair, Abnormality of retinal pigmentation, Abnormal fingernail morphol...	ORPHA:1433
Microvillus Inclusion Disease	Villous atrophy, Abnormality of small intestinal villus morphology	ORPHA:2290
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F	ORPHA:46532
Waardenburg Syndrome, Type 4A	Premature graying of hair, Aganglionic megacolon, White eyelashes, White eyebrow, Ataxia, Hypopig...	OMIM:277580
X-Linked Sideroblastic Anemia	Anemia, Muscle weakness, Dyspnea, Hyperpigmentation of the skin, Splenomegaly	ORPHA:75563
Immunodeficiency 87 And Autoimmunity	Necrotizing enterocolitis, Decreased proportion of CD4-positive T cells, Hepatic steatosis, Pleur...	OMIM:619573
Rothmund-Thomson Syndrome, Type 1	Hypothyroidism, Cafe-au-lait spot, Absent eyelashes, Thin nail, Male hypogonadism, Absent eyebrow...	OMIM:618625
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Tip-toe gait, Aspiration pneumonia, Inability to walk, Gait disturbance, Coug...	ORPHA:216866
Waardenburg Syndrome, Type 4B	Premature graying of hair, Aganglionic megacolon, White eyelashes, White eyebrow, Hypopigmented s...	OMIM:613265
Hemoglobin H Disease	Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly	OMIM:613978
Chediak-Higashi Syndrome	Ocular albinism, Iris hypopigmentation, Spontaneous, recurrent epistaxis, Hepatomegaly, Abnormal ...	OMIM:214500
Aicardi Syndrome	Gastroesophageal reflux, Multiple lipomas, Precocious puberty, Sparse lateral eyebrow, Abnormalit...	ORPHA:50
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormal macrophage morphology, Gait disturbance, Pancytopenia, Ab...	ORPHA:2585
Schöpf-Schulz-Passarge Syndrome	Alopecia, Aplasia/Hypoplasia of the eyebrow, Squamous cell carcinoma, Basal cell carcinoma, Spars...	ORPHA:50944
Hypotrichosis 7	Sparse body hair, Sparse eyebrow, Sparse scalp hair, Brittle hair, Sparse axillary hair, Abnormal...	OMIM:604379
Ectodermal Dysplasia 4, Hair/Nail Type	Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O...	OMIM:602032
Focal Facial Dermal Dysplasia Type Iii	Sparse lateral eyebrow, Anal atresia, Hypopigmented skin patches, Multiple cafe-au-lait spots, Ab...	ORPHA:1807
Icf Syndrome	Anemia, Abnormality of chromosome stability, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Recurrent sinusitis, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Colitis, Thro...	OMIM:613101
Trichodysplasia-Xeroderma Syndrome	Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ...	ORPHA:3361
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Ataxia, H...	ORPHA:33445
Parenteral Nutrition-Associated Cholestasis	Splenomegaly, Biliary hyperplasia, Hepatic fibrosis, Cirrhosis, Villous atrophy, Jaundice, Hepati...	ORPHA:567983
Trichothiodystrophy 1, Photosensitive	Small nail, Tiger tail banding, Pili torti, Trichorrhexis nodosa, Brittle hair, Malabsorption, Hy...	OMIM:601675
Gastrointestinal Stromal Tumor	Neoplasm of the stomach, Anemia, Abnormality of the liver, Neoplasm of the gastrointestinal tract...	ORPHA:44890
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Small nail, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi...	OMIM:615631
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Astrocytoma, Ovarian cyst, Uterine leiomyoma, Adenoma...	OMIM:617100
Hypotrichosis 8	Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h...	OMIM:278150
Progressive Familial Intrahepatic Cholestasis	Malabsorption, Jaundice, Neoplasm, Cholestasis, Hepatomegaly, Splenomegaly	ORPHA:172
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut...	OMIM:619375
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Ductal carcinoma in situ, Juvenile type ovarian granulosa cell tumor, Sch...	OMIM:619975
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia	OMIM:301083
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Malabsorption, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease...	ORPHA:79301
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphoma, Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopeni...	OMIM:614470
Coproporphyria, Hereditary	Respiratory paralysis, Jaundice, Increased fecal coproporphyrin 3, Hepatomegaly, Increased fecal ...	OMIM:121300
Polymerase Proofreading-Related Adenomatous Polyposis	Breast carcinoma, Colorectal polyposis, Adenocarcinoma of the colon, Neoplasm of the rectum, Brai...	ORPHA:447877
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Lymphoma, Decreased CD4:CD8 ratio, Bronchiectasis, Recurrent sinusitis, Decreased proportion of C...	OMIM:300853
Alpha-Thalassemia	Anemia, Splenomegaly, Hemolytic anemia, Myelodysplasia, Hypersplenism, Jaundice, Abnormal hemoglo...	ORPHA:846
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy, Bradykinesia, Increased mitochondrial number	OMIM:619063
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Li...	OMIM:612526
Lynch Syndrome 8	Endometrial carcinoma, Colon cancer, Adenomatous colonic polyposis, Hereditary nonpolyposis color...	OMIM:613244
Elliptocytosis 3	Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis	OMIM:617948
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Bronchiectasis, Coombs-positive hemolytic anemia, De...	OMIM:617514
Fanconi Anemia, Complementation Group S	Breast carcinoma, Anemia, Narrow palate, Long eyelashes, Ataxia, Ovarian carcinoma, Sparse hair, ...	OMIM:617883
Pili Torti-Onychodysplasia Syndrome	Sparse body hair, Alopecia, Brittle hair, Absent eyelashes, Keloids, Alopecia universalis, Tricho...	ORPHA:2890
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Woolly Hair	Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ...	ORPHA:170
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Dyspnea, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, ...	OMIM:607616
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia, Kaposi's sarcoma	OMIM:615593
Obesity Due To Prohormone Convertase I Deficiency	Hyperinsulinemia, Hypopigmentation of the skin, Decreased response to growth hormone stimulation ...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hyperinsulinemia, Hypopigmentation of the skin, Decreased response to growth hormone stimulation ...	ORPHA:71526
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Abnormal eyelash m...	ORPHA:573
Erythrocytosis, Familial, 3	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin	OMIM:609820
Beckwith-Wiedemann Syndrome	Hypothyroidism, Gonadoblastoma, Melanocytic nevus, Large intestinal polyposis, Hepatoblastoma, Ne...	ORPHA:116
Crandall Syndrome	Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Abnormal testis morpho...	ORPHA:202
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Azoospermia, Absent facial hair, Abnormality of the hypothalamus-pituitary ax...	ORPHA:2183
Bazex Syndrome	Trichorrhexis nodosa, Pili torti, Basal cell carcinoma, Trichoepithelioma, Coarse hair, Furrowed ...	OMIM:301845
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Vascular Hyalinosis	Premature graying of hair, Malabsorption, Chorioretinal scar, Protein-losing enteropathy, Hematoc...	OMIM:277175
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic...	OMIM:616689
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia, Increased B cell count, Generalized lymphadenopathy, Recurrent sinusitis, Hepatosplenom...	OMIM:615559
Alg9-Cdg	Gastroesophageal reflux, Periportal fibrosis, Villous atrophy, Asthma, Enlarged kidney, Bifid uvu...	ORPHA:79328
Immunodeficiency 82 With Systemic Inflammation	Anemia, Crohn's disease, Reduced natural killer cell count, Duodenal ulcer, Villous atrophy, T ly...	OMIM:619381
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hypoplasia of the thymus, Gastrointestinal atresia, Hepatitis, Type I diabete...	ORPHA:436252
Tyrosinemia Type 1	Hepatocellular carcinoma, Splenomegaly, Hepatomegaly	ORPHA:882
Medulloblastoma	Cerebellar ataxia associated with quadrupedal gait, Medulloblastoma, Cerebellar medulloblastoma, ...	ORPHA:616
Cardiocranial Syndrome, Pfeiffer Type	Plantar flexion contracture, Episodic tachypnea, Bifid uvula, Contracture of the proximal interph...	ORPHA:2872
Griscelli Syndrome Type 2	Premature graying of hair, Iris hypopigmentation, Jaundice, Pancytopenia, Hypopigmentation of hai...	ORPHA:79477
Xq27.3Q28 Duplication Syndrome	Decreased testicular size, Sparse body hair, Hypogonadism, Cryptorchidism	ORPHA:261483
Dyskeratosis Congenita	Abnormal testis morphology, Premature graying of hair, Neoplasm of the pancreas, Neoplasm, Abnorm...	ORPHA:1775
Immunodeficiency 84	Splenomegaly, Perianal abscess, B lymphocytopenia, B-cell lymphoma	OMIM:619437
Mitochondrial Complex I Deficiency, Nuclear Type 33	Respiratory insufficiency, Aspiration pneumonia, Bronchiectasis, Apnea, Loss of ambulation, Dysph...	OMIM:618253
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi...	ORPHA:444463
Hoyeraal-Hreidarsson Syndrome	Anemia, Sparse scalp hair, Generalized hypopigmentation of hair, Premature graying of hair, Ataxi...	ORPHA:3322
Waardenburg Syndrome Type 1	Premature graying of hair, Synophrys, Aganglionic megacolon, White eyelashes, White eyebrow, Hypo...	ORPHA:894
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	High, narrow palate, Sparse hair, Umbilical hernia, Cryptorchidism	OMIM:273390
Erythrocytosis, Familial, 6	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:617980
Sandifer Syndrome	Gastroesophageal reflux, Anemia, Abnormal posturing, Hematemesis, Esophagitis, Hiatus hernia	ORPHA:71272
Nicolaides-Baraitser Syndrome	Alopecia, Hernia, Abnormal testis morphology, High, narrow palate, Long eyelashes, Abnormal hair ...	ORPHA:3051
Ovalocytosis, Southeast Asian	Elliptocytosis, Hemolytic anemia	OMIM:166900
Sialidosis Type 2	Flexion contracture, Ataxia, Muscle weakness, Inguinal hernia, Dyspnea, Hepatomegaly, Ascites, Sp...	ORPHA:87876
Beta-Thalassemia	Respiratory insufficiency, Anemia, Hepatitis, Muscle weakness, Hepatomegaly, Cholelithiasis, Hypo...	ORPHA:848
Li-Fraumeni Syndrome	Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo...	OMIM:151623
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Cirrhosis, Absent axillary hair, Thrombocytopenia, Splenomegaly	OMIM:269600
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Squamous Cell Carcinoma Of The Anal Canal	Papilloma, Neoplasm of the liver, Neoplasm of the rectum, Lymphadenopathy, Intestinal bleeding, A...	ORPHA:424019
Eosinophilic Gastroenteritis	Anemia, Abnormality of the gastrointestinal tract, Malabsorption, Asthma, Allergic rhinitis, Stea...	ORPHA:2070
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Aredyld	Generalized hypotrichosis	OMIM:207780
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Asthma, Jaundice, Steatorrhea, Hepatomegaly, Exocrine pancreatic insufficiency...	OMIM:612714
Muir-Torre Syndrome	Breast carcinoma, Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the liver, Malignant gen...	ORPHA:587
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoi...	ORPHA:99889
Moynahan Syndrome	Alopecia, Sparse hair, Hypogonadism	ORPHA:2574
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse eyebrow, Fine hair, Sparse hair, Sparse eyelashes, Ridged nail, Slow-growing hair	OMIM:129490
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Chronic sinusitis, Recurrent pneumonia, Protein-losing enteropathy, N...	OMIM:613502
Fanconi Anemia, Complementation Group O	Chromosome breakage	OMIM:613390
Blepharocheilodontic Syndrome 1	High anterior hairline, Small nail, Anal atresia, Nail dysplasia, Distichiasis, Sparse hair	OMIM:119580
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow, Respiratory distress, Lipoatroph...	ORPHA:261304
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of the pubic hair, Allergic rhinitis,...	ORPHA:90368
Mandibuloacral Dysplasia	Alopecia, Hyperinsulinemia, Contractures of the large joints, High palate, Abnormality of skin pi...	ORPHA:2457
Pten Hamartoma Tumor Syndrome	Papilloma, Breast carcinoma, Thyroid carcinoma, Renal cell carcinoma, Multiple trichilemmomata, M...	ORPHA:306498
Monilethrix	Alopecia, Brittle hair, Nail dysplasia, Abnormality of hair texture, Sparse hair, Nail dystrophy	OMIM:158000
Cardiofaciocutaneous Syndrome 2	Curly hair, High palate, Fine hair, Absent eyebrow, Sparse hair	OMIM:615278
Lymphoproliferative Syndrome, X-Linked, 2	Hepatitis, Pancytopenia, Inflammation of the large intestine, Hemophagocytosis, Hepatomegaly, Col...	OMIM:300635
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse body hair, Sparse scalp hair, Absent eyelashes, Trichodysplasia, Supernumerary nipple, Abn...	ORPHA:1809
Hemochromatosis, Type 1	Alopecia, Cirrhosis, Hepatocellular carcinoma, Azoospermia, Hyperpigmentation of the skin, Pleura...	OMIM:235200
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Hereditary Mucoepithelial Dysplasia	Anorectal anomaly, Alopecia, Fine hair, Tracheoesophageal fistula, Furrowed tongue, Sparse hair	ORPHA:1839
Familial Colorectal Cancer Type X	Flexion contracture, Neoplasm of the pancreas, Hepatocellular carcinoma, Neoplasm of the thyroid ...	ORPHA:440437
Congenital Pulmonary Lymphangiectasia	Pulmonary arterial hypertension, Gastroesophageal reflux, Respiratory distress, Chronic pulmonary...	ORPHA:2414
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Chromosomal breakage induced by crosslinking agents	OMIM:619060
Familial Multinodular Goiter	Pilomatrixoma, Pleuropulmonary blastoma, Colorectal polyposis, Cerebellar medulloblastoma, Alveol...	ORPHA:276399
Fragile X Syndrome	Folate-dependent fragile site at Xq28	OMIM:300624
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Dysphagia	OMIM:304700
Hyperbilirubinemia, Shunt, Primary	Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ...	OMIM:237800
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Wolman Disease	Anemia, Adrenal insufficiency, Steatorrhea, Adrenal calcification, Bone-marrow foam cells, Hepato...	ORPHA:75233
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Elejalde Neuroectodermal Melanolysosomal Syndrome	Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hai...	OMIM:256710
Trichodental Dysplasia	Brittle hair, Odontodysplasia, Fine hair, Sparse hair, Slow-growing hair	OMIM:601453
Progeroid Syndrome, Petty Type	Lipoatrophy, Brittle hair, Reduced subcutaneous adipose tissue, Long eyelashes in irregular rows,...	ORPHA:2963
Classic Hodgkin Lymphoma	Lymphoma, Respiratory insufficiency, Ataxia, Lymphadenopathy, Neoplasm, Bone marrow hypocellulari...	ORPHA:391
Ruijs-Aalfs Syndrome	Hypogonadism, Premature graying of hair, Elbow flexion contracture, Hepatocellular carcinoma, Lip...	OMIM:616200
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Epistaxis, Hepatomegaly, Por...	OMIM:619463
Cholestasis-Lymphedema Syndrome	Multiple lipomas, Cirrhosis, Abnormality of skin pigmentation, Jaundice, Acholic stools, Biliary ...	ORPHA:1414
Aredyld Syndrome	Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Type II diabetes mellitus, Type I diabetes m...	ORPHA:1133
10Q22.3Q23.3 Microdeletion Syndrome	Breast aplasia, Intestinal polyposis	ORPHA:276413
Bloom Syndrome	Acute myeloid leukemia, Myelodysplasia, Esophageal neoplasm, Acute lymphoblastic leukemia, Neopla...	ORPHA:125
Cholestasis-Lymphedema Syndrome	Cirrhosis, Malabsorption, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Splenomegaly	OMIM:214900
Pfapa Syndrome	Malabsorption, Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:42642
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A...	OMIM:300835
Gray Platelet Syndrome	Epistaxis, Thrombocytopenia, Splenomegaly, Myelodysplasia	ORPHA:721
Hawkinsinuria	Hypothyroidism, Sparse hair, Fine hair	ORPHA:2118
Carney Complex, Type 1	Profuse pigmented skin lesions, Thyroid carcinoma, Pituitary adenoma, Multiple lentigines, Pheoch...	OMIM:160980
Muir-Torre Syndrome	Breast carcinoma, Colonic diverticula, Adenoma sebaceum, Duodenal adenocarcinoma, Malignant genit...	OMIM:158320
Braddock-Carey Syndrome 1	Enamel hypoplasia, Curly hair, Camptodactyly, Anteriorly placed anus, Cleft palate, Thrombocytope...	OMIM:619980
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Ataxia, Hepatomegaly, Splenomegaly, Recurrent infection of the gastrointestinal tract,...	OMIM:613489
Portal Hypertension, Noncirrhotic, 1	Esophageal varix, Portal hypertension, Splenomegaly, Hepatomegaly	OMIM:617068
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Premature graying of hair, Hypogonadism, Microcolon, Aganglionic meg...	ORPHA:163746
Alopecia-Intellectual Disability Syndrome	Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Flexion contrac...	ORPHA:2850
Griscelli Syndrome Type 3	Hypopigmentation of hair, Iris hypopigmentation, Partial albinism	ORPHA:79478
Jaberi-Elahi Syndrome	Gait ataxia, Sparse eyebrow, Inability to walk, Brittle hair, Choreoathetosis, Fine hair, Muscle ...	OMIM:617988
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Ascites, Jaun...	ORPHA:64743
Adams-Oliver Syndrome 5	Pulmonary arterial hypertension, Dystrophic toenail, Hypoplastic toenails, Absent toenail, Hypers...	OMIM:616028
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Pancreatitis, Choreoathetosis, Respiratory distress, Hepatomegaly, Lethargy, Thrombocytop...	ORPHA:79312
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Increased fecal harderoporphyrin, Hepatomegaly, Hyperpigmentat...	OMIM:618892
Beta-Thalassemia Intermedia	Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr...	ORPHA:231222
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Intrahepatic biliary atresia, Alopecia, Sparse eyebrow, Hepatic fibrosis, Enamel hypoplasia, Scle...	OMIM:607626
Werner Syndrome	Abnormal testis morphology, Premature graying of hair, Melanoma, White forelock, Neoplasm, Abnorm...	ORPHA:902
Visceral Myopathy 2	Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega...	OMIM:619350
Noonan Syndrome 6	Curly hair, Cafe-au-lait spot, Long eyebrows, Multiple lentigines, Juvenile myelomonocytic leukem...	OMIM:613224
Hair Defect With Photosensitivity And Mental Retardation	Sparse eyebrow, Brittle hair, Coarse hair, Sparse eyelashes, Sparse hair	OMIM:234030
Even-Plus Syndrome	High palate, Synophrys, Anal atresia, Sparse hair, Highly arched eyebrow	OMIM:616854
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Abnormality of skin pigmentation, Ataxia, Bone marrow hypocellularity, Oral leukoplakia...	OMIM:616353
Trichothiodystrophy 5, Nonphotosensitive	Gait ataxia, Sparse eyebrow, Tiger tail banding, Brittle hair, Decreased testicular size, Panhypo...	OMIM:300953
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Hemolytic anemia, Normocytic anemia, Jaundice, Respiratory distress, P...	OMIM:615512
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Down Syndrome	Hypothyroidism, Narrow palate, Acute megakaryocytic leukemia, Aganglionic megacolon, Type II diab...	ORPHA:870
Anauxetic Dysplasia 2	Small nail, Flexion contracture, Macroglossia, Nail dysplasia, Sparse hair	OMIM:617396
Immunodeficiency 64 With Lymphoproliferation	Bronchiectasis, Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thro...	OMIM:618534
Fanconi Anemia, Complementation Group N	Aplastic anemia, Chromosomal breakage induced by crosslinking agents	OMIM:610832
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Ulcerative colitis, Anal fiss...	OMIM:618935
Huntington Disease-Like 1	Gait ataxia, Abnormal posturing, Gait disturbance, Dysmetria, Bradykinesia	ORPHA:157941
Waardenburg Syndrome	Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Abnorma...	ORPHA:3440
Proteus Syndrome	Melanocytic nevus, Neoplasm of the central nervous system, Retinal hamartoma, Hamartoma, Abnormal...	ORPHA:744
Autoimmune Hemolytic Anemia	Lymphoma, Hemolytic anemia, Muscle weakness, Dyspnea, Abnormal leukocyte morphology, Splenomegaly	ORPHA:98375
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Anemia, Hepatic arteriovenous malformation, Gastrointestinal carcinoma, Epistaxis, Juvenile gastr...	OMIM:175050
Lig4 Syndrome	Leukocytosis, Acute leukemia, Abnormality of chromosome stability, Pancytopenia	ORPHA:99812
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	T lymphocytopenia, Increased proportion of transitional B cells, Cellulitis, Bronchiectasis, Lymp...	OMIM:615513
Omenn Syndrome	Lymphoma, Alopecia, Anemia, Aplasia/Hypoplasia of the eyebrow, Hypothyroidism, Thyroiditis, Lymph...	ORPHA:39041
Hypotrichosis 6	Sparse eyebrow, Pili torti, Brittle hair, Sparse eyelashes, Sparse hair	OMIM:607903
Hurler-Scheie Syndrome	Rhinitis, Hernia, Abnormality of the tonsils, Hepatomegaly, Generalized hirsutism, Splenomegaly	ORPHA:93476
Immunodeficiency 27A	Anemia, Hepatosplenomegaly, Abnormal bronchus physiology, Lymphadenopathy, Pneumonia, Thrombocyto...	OMIM:209950
Ectodermal Dysplasia-Syndactyly Syndrome 2	Enamel hypoplasia, Cardiomegaly, Sparse hair	OMIM:613576
Sézary Syndrome	Lymphoma, Alopecia, Splenomegaly, Irregular hyperpigmentation, Neoplasm of the skin, Lymphadenopa...	ORPHA:3162
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia...	OMIM:615285
Mismatch Repair Cancer Syndrome 3	Lymphoma, Astrocytoma, Neoplasm of the rectum, Colon cancer, Multiple cafe-au-lait spots, Lisch n...	OMIM:619097
Dyskeratosis Congenita, Autosomal Recessive 8	Reduced natural killer cell count, B lymphocytopenia, Chromosomal breakage induced by crosslinkin...	OMIM:620133
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Adrenal calcification, Splenomegaly	ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Fat malabsorption, Jaundice, Wheezing, Epistaxis, Hepatomegaly, Cholelithiasis, Intrah...	OMIM:211600
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair	ORPHA:2985
Cardiofaciocutaneous Syndrome 4	Curly hair, Decreased response to growth hormone stimulation test, Cafe-au-lait spot, Multiple le...	OMIM:615280
Fragile X Syndrome	Folate-dependent fragile site at Xq28	ORPHA:908
Piebald Trait	Absent pigmentation of the ventral chest, Piebaldism, Aganglionic megacolon, White forelock, Hete...	OMIM:172800
Lymphoproliferative Syndrome 2	Lymphoma, Pancytopenia, Hepatosplenomegaly, Recurrent pneumonia, Lymphadenopathy, Lymphoprolifera...	OMIM:615122
Mandibuloacral Dysplasia With Type B Lipodystrophy	Mottled pigmentation, Alopecia, Hyperinsulinemia, Flexion contracture, High palate, Brittle hair,...	OMIM:608612
Hermansky-Pudlak Syndrome 3	Hypopigmentation of the skin, Abnormal number of dense granules, Albinism, Spontaneous, recurrent...	OMIM:614072
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Anterior hypopituitarism, Type I diabetes me...	ORPHA:181
Oculocutaneous Albinism, Type Viii	Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect	OMIM:619165
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Inability to walk, Ataxia, Dysmetria, Hirsutism, Poor head control, Sparse hair	OMIM:618087
Hemochromatosis, Type 2A	Cirrhosis, Azoospermia, Hepatomegaly, Hypogonadotropic hypogonadism, Hyperpigmentation of the ski...	OMIM:602390
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Cafe-au-lait spot, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular ...	OMIM:615234
Chronic Granulomatous Disease	Malabsorption, Liver abscess, Pyloric stenosis, Chronic pulmonary obstruction, Abnormality of neu...	ORPHA:379
Fanconi Anemia, Complementation Group Q	Chromosome breakage	OMIM:615272
Adams-Oliver Syndrome	Pulmonary arterial hypertension, Alopecia, Leukopenia, Cirrhosis, Absent fingernail, Hypoplastic ...	ORPHA:974
Scleroderma	Hypereosinophilia, Gastroesophageal reflux, Gastrointestinal telangiectasia, Alopecia, Flexion co...	ORPHA:801
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Anemia, Type II diabetes mellitus, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly...	OMIM:616860
Fanconi Anemia, Complementation Group E	Anemia, Reticulocytopenia, Leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Chromosomal bre...	OMIM:600901
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Sparse eyebrow, Progressive hypotrichosis, Abnormality of hair texture, Brittle hair, Nail dyspla...	OMIM:225060
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse body hair, Alopecia, Sparse scalp hair, Absent eyelashes, Hydrocele testis, Pleural effusi...	ORPHA:69735
Dominant Beta-Thalassemia	Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr...	ORPHA:231226
Immunodeficiency, Common Variable, 2	Lymphoma, Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Lymphadenopathy, Follicular h...	OMIM:240500
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Hypothyroidism, Synophrys, Fine hair, Dorsocervical fat pad, Diabetes mellitus, Distal muscle wea...	ORPHA:391408
Elliptocytosis 2	Elliptocytosis, Hemolytic anemia, Reticulocytosis	OMIM:130600
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ...	OMIM:203200
Trichothiodystrophy 8, Nonphotosensitive	Sparse eyebrow, Trichorrhexis nodosa, Woolly hair, Head titubation, Sparse hair	OMIM:619691
Mucopolysaccharidosis, Type Ii	Splenomegaly, Flexion contracture, Tracheobronchomalacia, Asthma, Macroglossia, Abnormality of re...	OMIM:309900
Beta-Thalassemia Major	Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr...	ORPHA:231214
Follicular Lymphoma	Lymphoma, Abnormality of the peritoneum, Pleural effusion, Lymphadenopathy, Mediastinal lymphaden...	ORPHA:545
Dehydrated Hereditary Stomatocytosis	Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ...	ORPHA:3202
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Pleural effusion, Autoimmune hemol...	OMIM:613011
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos...	OMIM:203300
Sialuria	High palate, Synophrys, Macroglossia, Inguinal hernia, Hirsutism, Hepatomegaly, Low posterior hai...	OMIM:269921
Prolidase Deficiency	Anemia, High palate, Prolonged neonatal jaundice, Asthma, Chronic lung disease, Recurrent pneumon...	OMIM:170100
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing, Multiple joint contractures, Inability to walk, Dysphagia, Facial palsy	OMIM:128100
Whim Syndrome	Papilloma, Verrucae, Lymphadenitis, Abnormality of neutrophil morphology, Cellulitis, Bronchiecta...	ORPHA:51636
Anemia, Congenital Dyserythropoietic, Type Iv	Hypothyroidism, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cel...	OMIM:613673
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Folate-dependent fragile site at Xq28	ORPHA:85327
Fanconi Anemia, Complementation Group C	Anemia, Flexion contracture, Cafe-au-lait spot, Reticulocytopenia, Pancytopenia, Prolonged G2 pha...	OMIM:227645
Palmoplantar Keratoderma And Woolly Hair	Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyelashes	OMIM:616099
Inflammatory Bowel Disease (Crohn Disease) 30	Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Esophagitis, Protein-losing entero...	OMIM:619079
Uncombable Hair Syndrome	Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology	ORPHA:1410
Fanconi Anemia, Complementation Group A	Anemia, Abnormality of skin pigmentation, Cafe-au-lait spot, Reticulocytopenia, Pancytopenia, Pro...	OMIM:227650
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Impaired neutrophil bactericidal activity, Jaundice, Ataxia, Muscle...	OMIM:613470
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Brittle hair, Nail dysplasia, Hyperpigmentation of the ski...	OMIM:104100
Polycythemia Vera	Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Gastrointestin...	OMIM:263300
Colorectal Cancer, Susceptibility To, 10	Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma	OMIM:612591
Johnson Neuroectodermal Syndrome	Alopecia, Decreased testicular size, Absent eyelashes, Absent eyebrow, Multiple cafe-au-lait spot...	OMIM:147770
Immunodeficiency 69	Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly	OMIM:618963
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse body hair, Abnormality of skin pigmentation, Sparse hair, Abnormal fingernail morphology	ORPHA:1810
Filippi Syndrome	Hypertrichosis, Frontal hirsutism, Sparse hair, Cryptorchidism	OMIM:272440
Whipple Disease	Respiratory insufficiency, Hypothyroidism, Anemia, Malabsorption, Ataxia, Generalized hyperpigmen...	ORPHA:3452
Sting-Associated Vasculopathy, Infantile-Onset	Leukopenia, Anemia, Periungual erythema, Lymphopenia, Nailfold capillary tortuosity, Follicular h...	OMIM:615934
Intellectual Developmental Disorder, Autosomal Recessive 5	Synophrys, Achilles tendon contracture, Thick eyebrow, Sparse hair, Broad-based gait	OMIM:611091
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Crohn's disease, Bronchiectasis, Lymphopenia, Autoimmune thrombocytopenia, Au...	OMIM:616100
Sporadic Infantile Bilateral Striatal Necrosis	Gait ataxia, Abnormal posturing, Titubation, Gait disturbance, Dysphagia, Bradykinesia	ORPHA:225147
Typhoid	Ataxia, Epistaxis, Cough, Gastrointestinal hemorrhage, Hepatomegaly, Lethargy, Splenomegaly	ORPHA:99745
Lysosomal Acid Lipase Deficiency	Leukopenia, Hepatic fibrosis, Cirrhosis, Anemia, Periportal fibrosis, Increased hepatic echogenic...	OMIM:278000
Oculocutaneous Albinism	Hypopigmentation of the skin, Squamous cell carcinoma of the skin, Generalized hypopigmentation o...	ORPHA:55
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Enamel hypoplasia, Aplasia/Hypoplasia of the eyebrow, Small nail, Hernia,...	OMIM:617052
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse body hair, Sparse eyebrow, Curly hair, Pili torti, Brittle hair, Curly eyelashes, Sparse e...	OMIM:602400
Lelis Syndrome	Sparse lateral eyebrow, Yellow nails, Absent lower eyelashes, Perioral hyperpigmentation, Vitilig...	ORPHA:140936
Systemic Mastocytosis With Associated Hematologic Neoplasm	Peptic ulcer, Acute myeloid leukemia, Chronic myelomonocytic leukemia, Myelodysplasia, Hematologi...	ORPHA:98849
Tetrasomy 12P	Abnormal soft palate morphology, Sparse eyebrow, Sparse hair, Anal atresia	ORPHA:884
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Anemia, Flexion contracture, Inability to walk, Coarse hair, Synophrys, Enlarged kidn...	OMIM:617303
Gand Syndrome	Sparse hair	OMIM:615074
Johnson Neuroectodermal Syndrome	Alopecia, Hypogonadism, Absent eyelashes, Absent eyebrow, Multiple cafe-au-lait spots, Cleft pala...	ORPHA:2316
Dermoodontodysplasia	Sparse body hair, Toenail dysplasia, Sparse scalp hair, Melanocytic nevus, Fingernail dysplasia, ...	ORPHA:1660
Cholestasis, Progressive Familial Intrahepatic, 2	Intermittent jaundice, Cirrhosis, Fat malabsorption, Hepatocellular carcinoma, Intrahepatic chole...	OMIM:601847
Primary Myelofibrosis	Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hemangioma, Poikilocytosi...	ORPHA:824
Felty Syndrome	Lymphoma, Anemia, Irregular hyperpigmentation, Rhinitis, Cellulitis, Generalized hyperpigmentatio...	ORPHA:47612
Fanconi Anemia, Complementation Group D2	Anemia, Abnormality of skin pigmentation, Cafe-au-lait spot, Reticulocytopenia, Esophageal atresi...	OMIM:227646
Alg6-Cdg	Abnormality of the liver, Increased circulating androgen concentration, Jaundice, Macroglossia, A...	ORPHA:79320
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Reticulocytosis, Epistaxis, Increased RBC distribution width, Thr...	OMIM:314050
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, High anterior hairline, High palate, Congenital diaphragmatic hernia, Polycystic ...	ORPHA:284180
Lipodystrophy, Congenital Generalized, Type 4	Generalized muscle weakness, Hyperinsulinemia, Proximal muscle weakness, Flexion contracture, Pyl...	OMIM:613327
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Long eyelashes, Ataxia, Hirsutism, Thick eyebrow, Sparse hair, Low anterior hairline	OMIM:616819
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Congenital posterior occipital a...	ORPHA:79414
Cap Polyposis	Atrophic gastritis, Hematochezia, Colorectal polyposis	ORPHA:160148
2Q32Q33 Microdeletion Syndrome	High palate, Decreased testicular size, Fine hair, Cleft palate, Sparse hair	ORPHA:251019
Oculocutaneous Albinism Type 1	Generalized hypopigmentation of hair, Generalized hypopigmentation, Iris transillumination defect...	ORPHA:352731
Sarcoidosis, Susceptibility To, 2	Pulmonary arterial hypertension, Pneumothorax, Bronchiectasis, Hypoxemia, Emphysema, Pleural effu...	OMIM:612387
Hypotrichosis And Recurrent Skin Vesicles	Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse axillary hair, Sparse ey...	OMIM:613102
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Pyloric stenosis, Increased mean platelet volume, Intestina...	OMIM:300048
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse axillary hair, Congenital generalized lipodystrophy, Sparse facial hair, Generalized lipod...	OMIM:608154
Oculocutaneous Albinism Type 4	Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Neoplasm of the s...	ORPHA:79435
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Gait ataxia, Hypothyroidism, Truncal ataxia, Fine hair, Delayed puberty, Cryptorchidism, Sparse hair	OMIM:616817
Gaucher Disease, Type I	Pulmonary arterial hypertension, Anemia, Hypersplenism, Multiple myeloma, Pancytopenia, Epistaxis...	OMIM:230800
Mucopolysaccharidosis, Type Iiic	Splenomegaly, Hernia, Synophrys, Hirsutism, Hepatomegaly, Coarse hair, Dysphagia, Hypertrichosis	OMIM:252930
Budd-Chiari Syndrome	Cirrhosis, Malabsorption, Ascites, Jaundice, Cholecystitis, Intestinal obstruction, Gastrointesti...	ORPHA:131
Mast Cell Sarcoma	Sarcoma, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:66661
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse body hair, Sparse scalp hair, Sparse eyelashes, Sparse hair, Slow-growing hair	OMIM:618535
Vici Syndrome	Leukopenia, Abnormal posturing, Hypopigmentation of the skin, High palate, T lymphocytopenia, Dec...	OMIM:242840
Scarf Syndrome	Enamel hypoplasia, Hepatocellular adenoma, Inguinal hernia, Cryptorchidism, Low posterior hairlin...	ORPHA:3134
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Patchy alopecia, Hepatomegaly, V...	OMIM:615387
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of the skin, Iris hypopigmentation, Ataxia, Hypopigmentation of hair, Broad-base...	ORPHA:411515
Immunodeficiency 60 And Autoimmunity	Crohn's disease, Bronchiectasis, Ulcerative colitis, Pancytopenia, Colitis, Decreased proportion ...	OMIM:618394
Chédiak-Higashi Syndrome	Inability to walk, Iris hypopigmentation, Large clumps of pigment irregularly distributed along h...	ORPHA:167
Rapp-Hodgkin Syndrome	Sparse eyebrow, Enamel hypoplasia, Small nail, Velopharyngeal insufficiency, Bifid uvula, Supernu...	OMIM:129400
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia, Abnormality of chromosome stability	OMIM:300514
Immunodeficiency 97 With Autoinflammation	Reduced natural killer cell count, Enterocolitis, Monocytopenia, Decreased proportion of CD4+CD25...	OMIM:619802
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse body hair, Sparse scalp hair, Sparse lateral eyebrow, Rhinitis, Absent eyelashes, Absent n...	OMIM:614941
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	Apnea, Inguinal hernia, Meckel diverticulum, Cryptorchidism, Sparse hair	OMIM:602613
Systemic Sclerosis	Pulmonary arterial hypertension, Gastroesophageal reflux, Gastrointestinal telangiectasia, Alopec...	ORPHA:90291
Symptomatic Form Of Hemochromatosis Type 1	Hypothyroidism, Cirrhosis, Generalized bronze hyperpigmentation, Cholangiocarcinoma, Hepatocellul...	ORPHA:465508
Rothmund-Thomson Syndrome Type 1	Hypothyroidism, Myelodysplasia, Melanoma, Neoplasm of the skin, Alopecia totalis, Nail dysplasia,...	ORPHA:221008
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Malabsorption, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasi...	OMIM:602347
Fanconi Anemia, Complementation Group U

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