Not currently registered for phenotyping at IMPC

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

Gene Summary

minichromosome maintenance complex component 2
Mcmd2,  BM28,  CDCL1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

Disease Similarity of
Matching phenotypes Source
Deafness, Autosomal Dominant 70

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

Disease Similarity of
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
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
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
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
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, 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
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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