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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
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 Similarity of
phenotypes
Matching phenotypes Source
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail m... ORPHA:2930
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Anemia, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Abnormality of chromosome stability OMIM:600546
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Mismatch Repair Cancer Syndrome 4
Astrocytoma, Non-Hodgkin lymphoma, Multiple cafe-au-lait spots, Adenomatous colonic polyposis, Gl... OMIM:619101
Polyposis Syndrome, Hereditary Mixed, 2
Colon cancer, Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic pol... OMIM:610069
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Alopecia, Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, T... OMIM:269200
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Myasthenia Gravis
Thymoma, Limb muscle weakness, Fatigable weakness, Proximal muscle weakness, Abnormality of the e... OMIM:254200
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Birt-Hogg-Dube Syndrome 1
Sebaceous hyperplasia, Cutaneous leiomyoma, Colon cancer, Cutaneous leiomyosarcoma, Multiple lipo... OMIM:135150
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Intestinal polyposis, Hepatic steatosis, Multiple lipomas, Lymphoid nodular hy... ORPHA:210548
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... ORPHA:157798
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Fatigable weakness, Abnormal leukocyte morphology, Dys... ORPHA:169105
Fanconi Anemia, Complementation Group T
Pancytopenia, Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents, Thromb... OMIM:616435
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Addison Disease
Adrenal calcification, Hypoparathyroidism, Celiac disease, Thymoma, Androgen insufficiency, Vitil... ORPHA:85138
Familial Adenomatous Polyposis 2
Colon cancer, Adenomatous colonic polyposis OMIM:608456
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Neutropenia OMIM:617243
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Villous atrophy, Chronic hepatitis, Woolly hair, Cirrhosis, Uncombable hair... OMIM:614602
N Syndrome
Leukemia, Abnormality of chromosome stability OMIM:310465
Transcobalamin Deficiency
Abnormality of chromosome stability, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Gastrointestinal carcinoma, Hematochezia, Xerostomia, Alopecia, Nail ... OMIM:175500
Hereditary Mixed Polyposis Syndrome
Hematochezia, Intussusception, Adenomatous colonic polyposis, Endometrial carcinoma, Prostate can... ORPHA:157794
Alpha-Heavy Chain Disease
Alopecia, Lymphoma, Ascites, Abnormal small intestine morphology, Splenomegaly, Hepatomegaly, Lym... ORPHA:100025
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Alopecia, Hepatitis, Decreased FOXP3-expressing T cell count, Villous a... OMIM:304790
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Recurrent tonsillitis, Melanin pigment aggregatio... OMIM:214450
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Villous atrophy, Splenomegaly, Enterocolitis, Th... OMIM:616050
Desmoid Tumor
Neoplasm of the skin, Gastrointestinal hemorrhage, Intestinal polyposis, Abnormality of retinal p... ORPHA:873
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Gangl... ORPHA:251992
Myasthenia, Limb-Girdle, Autoimmune
Thymoma, Ophthalmoparesis, Neoplasm, Fatigable weakness, Hashimoto thyroiditis OMIM:159400
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Splenomegaly, Ataxia ORPHA:2274
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Alope... OMIM:606367
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypopigmented skin patches, Cryptorchidism, Hemangioma, Gait disturbance, Curly hair, Intestinal ... ORPHA:457485
Hirschsprung Disease
Functional abnormality of the gastrointestinal tract, Neoplasm of the thyroid gland, Intestinal p... ORPHA:388
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... ORPHA:329971
Diarrhea 9
Villous atrophy OMIM:618168
Lactose Intolerance, Adult Type
Decreased small intestinal mucosa lactase level OMIM:223100
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... ORPHA:480536
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis OMIM:246470
Thymoma, Familial
Thymoma, Neoplasm OMIM:274230
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Lymphoma, Jejunitis, Microcytic anemia, Abnormal s... ORPHA:398063
Lynch Syndrome
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop... ORPHA:144
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Type I diabetes mellitus, Inflammation of the large intestine, Lymphoma, Panc... OMIM:614700
Apc-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Mul... ORPHA:247806
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Turcot Syndrome With Polyposis
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Basal cell carcinoma, Leukemia, Glioblast... ORPHA:99818
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level ORPHA:103907
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Netherton Syndrome
Brittle scalp hair, Sparse eyebrow, Villous atrophy, Recurrent infection of the gastrointestinal ... OMIM:256500
Bannayan-Riley-Ruvalcaba Syndrome
Uterine neoplasm, Abnormal large intestine morphology, Irregular hyperpigmentation, Lymphoma, Cap... ORPHA:109
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Alopecia, Central heterochromia, Decreased response to growth hormone sti... OMIM:275400
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Juvenile Polyposis Syndrome
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intestinal polyposis... ORPHA:2929
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Colon cancer, Sparse body hair, Fundic gland polyposis, Sparse axillary hair, ... OMIM:608615
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... OMIM:607624
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta... ORPHA:247798
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestinal lymphangiectasi... ORPHA:90362
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair OMIM:601553
Syndromic Diarrhea
Lymphopenia, Hepatoblastoma, Cirrhosis, Brittle hair, Hepatomegaly, Abnormality of the liver, Vil... ORPHA:84064
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Melanocytic nevus, Abnormal toenail morphology, Irregular hyperpigmentation of ... ORPHA:1818
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Joint contracture of the hand, Small nail, Villous atrophy, Nail dysplasia, High pal... OMIM:601110
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Peutz-Jeghers Syndrome
Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplasm of the rectum, Rectal pro... ORPHA:2869
Congenital Short Bowel Syndrome
Intestinal malrotation, Sparse hair, Lipoatrophy, Intestinal hypoplasia ORPHA:2301
Secondary Short Bowel Syndrome
Central hypothyroidism, Volvulus, Cholestasis, Villous atrophy, Abnormal small intestine morpholo... ORPHA:95427
Congenital Disorder Of Glycosylation, Type Il
Ascites, Villous atrophy, Splenomegaly, Lipodystrophy, Hepatomegaly OMIM:608776
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Uterine neoplasm, Intestinal bleeding, Intussusception, Hypermelanoti... OMIM:175200
Familial Adenomatous Polyposis 1
Multiple lipomas, Hepatoblastoma, Osteoma, Desmoid tumors, Carcinoma, Keloids, Adrenocortical ade... OMIM:175100
Piebald Trait-Neurologic Defects Syndrome
Neoplasm of the skin, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow m... ORPHA:2885
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Hepatic fibrosis, Villous atrophy, Hepatomegaly, Cirrhosis, Hyperinsu... OMIM:602579
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Onychogryposis, Duodenitis, Paronychia OMIM:614328
Dystonia 31
Difficulty walking, Dysphagia, Abnormal posturing OMIM:619565
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Angiofibromas, Desmoid tumors, Neoplasm ... ORPHA:733
Mantle Cell Lymphoma
B-cell lymphoma, Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Immunodeficiency 31C
Protein-losing enteropathy, Lymphopenia, Villous atrophy, Autoimmune hemolytic anemia, Splenomega... OMIM:614162
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Inguinal hernia, Cryptorchidism, Gait disturbance, Ataxia, Sparse hair ORPHA:1174
Benign Schwannoma
Peripheral schwannoma, Schwannoma, Abnormality of the liver, Intestinal polyposis, Vestibular sch... ORPHA:252164
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Cryptorchidism, Muscle weakness, Sparse body hair ORPHA:85274
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... OMIM:605724
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Sparse body hair, Melanocytic nevus, Abnormal eyelash morphology, Sparse sc... ORPHA:1008
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Multiple cafe-au-lait spots, Colon... OMIM:619096
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Trichohepatoenteric Syndrome 1
Bifid uvula, Hepatic fibrosis, Fine hair, Trichorrhexis nodosa, Cholestasis, Villous atrophy, Cur... OMIM:222470
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Kondoh Syndrome
Interphalangeal joint contracture of finger, Thick eyebrow, Knee flexion contracture, Sparse hair... OMIM:606242
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Sparse eyebrow, Tiger tail banding, Nail dystrophy, Ataxia, Sparse hair OMIM:619692
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... OMIM:617294
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Cowden Syndrome 7
Trichilemmoma, Goiter, Intestinal polyposis, Hashimoto thyroiditis, Ductal carcinoma in situ, Hem... OMIM:616858
Cowden Syndrome 1
Thyroiditis, Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Goiter, Meningioma, Lymph... OMIM:158350
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Familial Melanoma
Abnormal hair morphology, Neoplasm of the pancreas, Abnormality of the lymphatic system, Melanoma... ORPHA:618
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid... ORPHA:158057
Mismatch Repair Cancer Syndrome 1
Basal cell carcinoma, Adenocarcinoma of the colon, T-cell lymphoma, Hypopigmentation of the skin,... OMIM:276300
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Pigmentary retinopathy, Decreased response to growth hormone stimulation test, Hypogona... ORPHA:3363
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Distichiasis, Anal atresia, Sparse hair, Absent lower eyelashes OMIM:227260
Neutrophilia, Hereditary
Myelodysplasia, Splenomegaly, Neutrophilia OMIM:162830
Mosaic Variegated Aneuploidy Syndrome
Rhabdomyosarcoma, Ascites, Vaginal neoplasm, Apnea, Stomach cancer, Myelodysplasia, Nephroblastom... ORPHA:1052
Cowden Syndrome 5
Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Goiter, Meningioma, Furrowed tongue, O... OMIM:615108
Cowden Syndrome 6
Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Goiter, Meningioma, Fibroadenoma of th... OMIM:615109
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Congenital Tufting Enteropathy
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal... ORPHA:92050
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Villous a... OMIM:619510
Pearson Marrow-Pancreas Syndrome
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, ... OMIM:557000
Thymic Neuroendocrine Tumor
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... ORPHA:97289
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Hepatic fibrosis, Muscle weakness, Villous atrophy, Hepatic steatosis, Dysmetria, Abnorma... OMIM:212065
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Atrophic scars, Nail dystrophy, Scarring alopecia of scalp, Enamel hypoplasia, ... ORPHA:79402
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Fatigable weakness, Diaphragmatic paralysis ORPHA:99868
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Hypopigmented skin patches, Melanoma, Adenoma... ORPHA:201
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Gastroesophageal reflux, Abnormal posturing, Inguinal hernia, Cryptorchidism, Tachypnea, Lethargy... OMIM:614857
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Spotty hyperpigmentation, Atrophic scars, Low anterior hairline, Absent e... ORPHA:79133
Griscelli Syndrome
Silver-gray hair, Iris hypopigmentation, Bone marrow hypocellularity, Hypopigmented skin patches,... ORPHA:381
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Schopf-Schulz-Passarge Syndrome
Poroma, Apocrine hidrocystoma, Small nail, Sparse body hair, Ridged nail, Narrow nail, Nail dystr... OMIM:224750
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Grfoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o... ORPHA:97261
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Juvenile Nasopharyngeal Angiofibroma
Juvenile colonic polyposis, Juvenile nasopharyngeal angiofibroma ORPHA:289596
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... ORPHA:1808
Ataxia-Telangiectasia
Ataxia, Aplasia/Hypoplasia of the thymus, Premature graying of hair, Lymphopenia, Neoplasm, Type ... ORPHA:100
Acquired Hypertrichosis Lanuginosa
Neoplasm of the respiratory system, Fine hair, Abnormal eyebrow morphology, Neoplasm, Generalized... ORPHA:2221
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Villous atrophy, Hypogonadotropic hypogonadism, De... OMIM:600955
Gaucher Disease Type 2
Respiratory distress, Splenomegaly, Ophthalmoplegia, Hepatomegaly, Flexion contracture, Dysphagia ORPHA:77260
Immunodeficiency 54
Chromosome breakage, Reduced natural killer cell count, Splenomegaly OMIM:609981
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Camptodact... ORPHA:2251
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... ORPHA:895
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia OMIM:206100
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... OMIM:114500
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... OMIM:616415
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Ehlers-Danlos Syndrome, Periodontal Type, 2
Atypical scarring of skin, Umbilical hernia, Inguinal hernia, Nephroblastoma, Pretibial hyperpigm... OMIM:617174
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Abnormal lymph node morphology, Neoplasm of head and neck, Chronic noninfectious lymphade... ORPHA:97290
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Ascite... ORPHA:2198
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Astrocytoma, Breast in... OMIM:617100
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Exosto... ORPHA:113
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Ungual fibroma, Abnormal fingernail morpholog... ORPHA:1433
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Esophageal carcinoma, Type I diabetes mellitus, Hepatitis, Lymphopenia, Hepatosplenomegaly, Villo... ORPHA:391487
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Mhc Class Ii Deficiency 1
Villous atrophy, Biliary tract abnormality, Cholangitis, Neutropenia, Colitis, Viral hepatitis OMIM:209920
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Increased intestinal transit time, Villous atroph... OMIM:619377
Piebaldism
Neoplasm of the skin, Hypopigmented skin patches, White forelock, Heterochromia iridis, Aganglion... ORPHA:2884
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Abnormal dental enamel morphology, Cholestasis, Portal hyperten... ORPHA:59303
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Intestinal bleeding, Spastic gait, Adenomatous colonic polyposis, Duodenal polyposis, Low posteri... ORPHA:261584
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... OMIM:277580
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Classic Mycosis Fungoides
Neoplasm of the skin, Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Lymphoma... ORPHA:2584
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Nail dystrophy, Absent eyelashes, Hypothyroidism, Absent eyebrow, Thin nail, S... OMIM:618625
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... OMIM:613265
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Irregular hyperpigmentation, Neoplasm of the colon, Abnormality of t... ORPHA:44890
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Abnormality of chromosome stability ORPHA:2268
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Dyskeratosis Congenita, Autosomal Dominant 1
Sparse hair, Bone marrow hypocellularity, Alopecia, Increased mean corpuscular volume, Aplastic a... OMIM:127550
Chylomicron Retention Disease
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes OMIM:246700
Fg Syndrome 3
Fine hair, Frontal upsweep of hair, Cryptorchidism, Joint contracture, Sparse hair, Pyloric stenosis OMIM:300406
Ataxia-Pancytopenia Syndrome
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly... ORPHA:2585
Cartilage-Hair Hypoplasia
Basal cell carcinoma, Anal stenosis, Sparse eyebrow, Fair hair, Lymphoma, Fine hair, Lymphopenia,... OMIM:250250
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Squamous cell carcinoma, Aplasia/Hypoplasia of the eyebrow, Basal cell car... ORPHA:50944
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Protein-losing enteropathy, Bradykinesia OMIM:619063
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Hypopigmented skin patches, Sparse lateral eyebrow, Distichiasis, Abnormal... ORPHA:1807
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Ataxia, H... ORPHA:33445
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, R... OMIM:615631
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Villous atrophy, Portal hypertension, Splenomegaly, Hepatic ste... ORPHA:567983
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutro... OMIM:614470
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Coombs-pos... OMIM:619375
Fanconi Anemia, Complementation Group S
Anemia, Chromosome breakage OMIM:617883
Aicardi Syndrome
Precocious puberty, Gastroesophageal reflux, Sparse lateral eyebrow, Intestinal polyposis, Abnorm... ORPHA:50
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co... OMIM:613244
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio, Perianal derm... OMIM:619573
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Neutropenia, Ataxia, Hepatomegaly, Giant melanosomes i... OMIM:214500
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Neoplasm of head and neck, ... ORPHA:319487
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Reduced subcutaneous adipose tissue,... OMIM:612526
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level OMIM:223000
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Cholestasis,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Cholestasis,... ORPHA:71526
Immunodeficiency 76
Lymphopenia, Splenomegaly, B-cell lymphoma, Lymphadenopathy, B lymphocytopenia, Colitis, T lympho... OMIM:619164
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... ORPHA:79477
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Azoospermia, Low posterior hairline, Sparse facial hair, Absent facial hair,... ORPHA:2183
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Keloids, Sparse body hair, Congenital onychodystrophy, Nail dystr... ORPHA:2890
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma OMIM:615593
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Medulloblastoma
Ataxia, Total ophthalmoplegia, Medulloblastoma, Dysmetria, Lethargy, Adenomatous colonic polyposi... ORPHA:616
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Cryptorchidism, Sparse body hair ORPHA:261483
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Hypogonadism, Aplasia/Hypoplasia of the eyebrow, Brittle h... ORPHA:202
Bazex-Dupre-Christol Syndrome
Coarse hair, Trichorrhexis nodosa, Furrowed tongue, Hyperpigmentation of the skin, Pili torti, Ba... OMIM:301845
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Gastroesophageal reflux, Inability to walk, Hepatic steatosis, Ataxia, Hypopigmentation of hair, ... ORPHA:70472
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Bifid uvula, Abnormal hair whorl, Contracture of the proximal interphalangea... ORPHA:2872
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Co... OMIM:613101
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Type I diabetes mellitus, Jejunoileal ulceration, Rectal abscess, Hepatitis, ... ORPHA:436252
Nicolaides-Baraitser Syndrome
High, narrow palate, Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Cryptorchi... ORPHA:3051
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Increased circulating cortiso... ORPHA:99889
Sandifer Syndrome
Gastroesophageal reflux, Abnormal posturing, Esophagitis, Hiatus hernia, Hematemesis, Anemia ORPHA:71272
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
High, narrow palate, Sparse hair, Cryptorchidism, Umbilical hernia OMIM:273390
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... ORPHA:424019
Hoyeraal-Hreidarsson Syndrome
Bone marrow hypocellularity, Generalized hypopigmentation of hair, Oral leukoplakia, Premature gr... ORPHA:3322
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Immunodeficiency 84
Perianal abscess, B-cell lymphoma, Splenomegaly, B lymphocytopenia OMIM:619437
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Pol... ORPHA:116
Fanconi Anemia, Complementation Group R
Anemia, Chromosomal breakage induced by crosslinking agents OMIM:617244
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... ORPHA:231401
Aredyld
Generalized hypotrichosis OMIM:207780
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Trichothiodystrophy 1, Photosensitive
Small nail, Fine hair, Hypogonadism, Trichorrhexis nodosa, Tiger tail banding, Absence of subcuta... OMIM:601675
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Thrombocytopenia, Absent axillary hair OMIM:269600
Moynahan Syndrome
Hypogonadism, Alopecia, Sparse hair ORPHA:2574
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Tip-toe gait, Abnormal posturing, Inability to walk, Gait disturbance, Dy... ORPHA:216866
Dyskeratosis Congenita
Hypopigmented skin patches, White hair, Premature graying of hair, Cirrhosis, Hepatomegaly, Spars... ORPHA:1775
Alg9-Cdg
Bifid uvula, Periportal fibrosis, Gastroesophageal reflux, Hypertrichosis, Villous atrophy, Hepat... ORPHA:79328
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypopigmentation of the skin, Respiratory distress, Aplasia/Hypoplasia of the eyebrow, Sparse hai... ORPHA:261304
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair OMIM:129490
Cardiofaciocutaneous Syndrome 2
Fine hair, Absent eyebrow, Curly hair, High palate, Sparse hair OMIM:615278
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, ... OMIM:300635
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Villous atrophy, Decreased pro... OMIM:619381
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Mandibuloacral Dysplasia
Alopecia, Increased subcutaneous truncal adipose tissue, Contractures of the large joints, Increa... ORPHA:2457
Mohr-Tranebjaerg Syndrome
Dysphagia, Abnormal posturing OMIM:304700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Anemia, Reticulocytopeni... OMIM:600901
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse body hair, Abnormal fingernail morphology, Supernumerary nipple, Abnormal toenail morpholo... ORPHA:1809
Ectodermal Dysplasia 9, Hair/Nail Type
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... OMIM:614931
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
X-Linked Sideroblastic Anemia
Anemia, Hyperpigmentation of the skin, Splenomegaly, Muscle weakness ORPHA:75563
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Lymphoma, Splenomegaly, Abnormal intestine morphology, Lymphadenopathy, In... ORPHA:397596
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum... OMIM:256710
Carney Complex, Type 1
Palatine myxoma, Pituitary adenoma, Myxoid subcutaneous tumors, Schwannoma, Pheochromocytoma, Thy... OMIM:160980
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Gastric varix, Splenomegaly, Hepatocellular carcinoma OMIM:613490
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Immunodeficiency 115 With Autoinflammation
Verrucae, Lower limb muscle weakness, Intestinal lymphangiectasia, Splenomegaly, Decreased propor... OMIM:620632
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Vascular Hyalinosis
Chorioretinal scar, Protein-losing enteropathy, Hematochezia, Premature graying of hair OMIM:277175
10Q22.3Q23.3 Microdeletion Syndrome
Breast aplasia, Intestinal polyposis ORPHA:276413
Hereditary Mucoepithelial Dysplasia
Alopecia, Fine hair, Furrowed tongue, Tracheoesophageal fistula, Anorectal anomaly, Sparse hair ORPHA:1839
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Premature graying o... OMIM:620367
Blepharocheilodontic Syndrome 1
High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Anal atresia, Sparse hair OMIM:119580
Bone Marrow Failure Syndrome 3
Chromosome breakage, Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobi... OMIM:617052
Ruijs-Aalfs Syndrome
Premature graying of hair, Elbow flexion contracture, Hypogonadism, Lipodystrophy, Sparse hair, H... OMIM:616200
Wolman Disease
Adrenal calcification, Ascites, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Anemia, Bone-m... ORPHA:75233
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Trichodental Dysplasia
Fine hair, Slow-growing hair, Brittle hair, Sparse hair, Odontodysplasia OMIM:601453
Progeroid Syndrome, Petty Type
Umbilical hernia, Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Redu... ORPHA:2963
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor... OMIM:158320
Aredyld Syndrome
Type I diabetes mellitus, Sparse body hair, Abnormal dental enamel morphology, Type II diabetes m... ORPHA:1133
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Werner Syndrome
Neoplasm of the oral cavity, Premature graying of hair, Type II diabetes mellitus, White forelock... ORPHA:902
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Anemia, Reticulocytopeni... OMIM:227650
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... ORPHA:64743
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Splenomegaly, Hepatomegaly, Lethargy, Pancreatitis, Thrombocytopenia, Neutr... ORPHA:79312
Hypotrichosis 9
Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc... OMIM:614237
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... ORPHA:523
Fanconi Anemia, Complementation Group P
Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents OMIM:613951
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Hypopigmented skin patches, Premature graying of hair, Hypogonadism, Abnormal eyebrow... ORPHA:163746
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Alopecia, Sparse eyebrow, Cholestasis, Portal hypertension, Splenomegaly, Scler... OMIM:607626
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Loss of ambulation, Neutropenia, Sparse hair, Dysphagia OMIM:618253
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neop... ORPHA:440437
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Multiple lentigines, Cryptorchidism, Low posterior hairline, Cu... OMIM:613224
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse scalp hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Flexion contrac... ORPHA:2850
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Pancytopenia, Chromosomal breakage induced by crosslinking age... OMIM:620133
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Jaberi-Elahi Syndrome
Broad-based gait, Sparse eyebrow, Fine hair, Inability to walk, Gait ataxia, Dysmetria, Sparse ey... OMIM:617988
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Harderoporphyria
Increased fecal harderoporphyrin, Splenomegaly, Reticulocytosis, Hepatomegaly, Hyperpigmentation ... OMIM:618892
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Hypopituitarism, Absent peripheral lymph nodes in presence o... ORPHA:98813
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Mismatch Repair Cancer Syndrome 3
Lymphoma, Astrocytoma, Neoplasm of the rectum, Lisch nodules, Multiple cafe-au-lait spots, Axilla... OMIM:619097
Braddock-Carey Syndrome 1
Anteriorly placed anus, Enamel hypoplasia, Thrombocytopenia, Curly hair, Camptodactyly, Sparse ha... OMIM:619980
Anauxetic Dysplasia 2
Small nail, Nail dysplasia, Macroglossia, Flexion contracture, Sparse hair OMIM:617396
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Even-Plus Syndrome
Highly arched eyebrow, High palate, Anal atresia, Sparse hair, Synophrys OMIM:616854
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilo... OMIM:615234
Trichothiodystrophy 5, Nonphotosensitive
Broad-based gait, Sparse eyebrow, Reduced hair sulfur content, Panhypopituitarism, Decreased test... OMIM:300953
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Lig4 Syndrome
Acute leukemia, Pancytopenia, Leukocytosis, Abnormality of chromosome stability ORPHA:99812
Huntington Disease-Like 1
Abnormal posturing, Gait ataxia, Dysmetria, Gait disturbance, Bradykinesia ORPHA:157941
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Hemochromatosis, Type 1
Alopecia, Ascites, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepato... OMIM:235200
Poems Syndrome
Increased circulating prolactin concentration, Hepatomegaly, Visceromegaly, Polycythemia, Ascites... ORPHA:2905
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Congenital Disorder Of Glycosylation, Type Iij
Recurrent infection of the gastrointestinal tract, Splenomegaly, Cirrhosis, Thick hair, Ataxia, H... OMIM:613489
Dyskeratosis Congenita, Autosomal Recessive 6
Bone marrow hypocellularity, Alopecia, Oral leukoplakia, Nail dystrophy, Abnormality of skin pigm... OMIM:616353
Hawkinsinuria
Sparse hair, Hypothyroidism, Fine hair ORPHA:2118
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Sézary Syndrome
Neoplasm of the skin, Alopecia, Irregular hyperpigmentation, Lymphoma, Abnormal lymphocyte morpho... ORPHA:3162
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Hypotrichosis 6
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair OMIM:607903
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Multiple lentigines, Alopecia of scalp, Sp... OMIM:615280
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Sparse hair, Enamel hypoplasia OMIM:613576
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic... ORPHA:848
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Inability to walk, Dysmetria, Hirsutism, Ataxia, Poor head control, Sparse hair OMIM:618087
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair ORPHA:2985
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Cholesteryl Ester Storage Disease
Adrenal calcification, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix ORPHA:75234
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Anter... ORPHA:181
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Gastrointestinal carcinoma, Juvenile gastrointestinal polyposis, Hepatic arterioven... OMIM:175050
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Mottled pigmentation, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, H... OMIM:608612
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Fine hair, Dorsocervical fat pad, Low anterior hairline, Hypothyroidism, Delaye... ORPHA:391408
Piebald Trait
Partial albinism, Neoplasm, White forelock, Absent pigmentation of the ventral chest, Heterochrom... OMIM:172800
Trichothiodystrophy 8, Nonphotosensitive
Sparse eyebrow, Trichorrhexis nodosa, Woolly hair, Head titubation, Sparse hair OMIM:619691
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit... OMIM:602400
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy, Neutropenia, Abnormal T cell morphology OMIM:613502
Adams-Oliver Syndrome 5
Dystrophic toenail, Umbilical hernia, Hypersplenism, Absent toenail, Inguinal hernia, Splenomegal... OMIM:616028
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... OMIM:616860
Hemochromatosis, Type 2A
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Lethargy, Cirrhosis, Hyperpigmentation ... OMIM:602390
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Inability to walk, Multiple joint contractures, Facial palsy, Dysphagia OMIM:128100
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Down Syndrome
Narrow palate, Macroglossia, Gastroesophageal reflux, Polycythemia, Umbilical hernia, Type II dia... ORPHA:870
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair OMIM:616099
Lelis Syndrome
Yellow nails, Sparse lateral eyebrow, Furrowed tongue, Vitiligo, Perioral hyperpigmentation, Nail... ORPHA:140936
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Bloom Syndrome
Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Sparse eyelashes, Abnormal proportio... ORPHA:125
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis OMIM:612591
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Follicular hyperplasia, Nail dystrophy, Tachypnea, Nailfold capillary to... OMIM:615934
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Hyperpigmentation of the skin, Brittle hai... OMIM:104100
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Muscle weakness, Splenomegaly, ... OMIM:613470
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
2Q32Q33 Microdeletion Syndrome
Fine hair, Decreased testicular size, High palate, Sparse hair, Cleft palate ORPHA:251019
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Anemia, Reticulocytopeni... OMIM:227645
Gand Syndrome
Sparse hair OMIM:615074
Revesz Syndrome
Bone marrow hypocellularity, Broad-based gait, Ridged fingernail, Aplastic anemia, Oral leukoplak... OMIM:268130
Filippi Syndrome
Frontal hirsutism, Sparse hair, Cryptorchidism, Hypertrichosis OMIM:272440
Intellectual Developmental Disorder, Autosomal Recessive 5
Broad-based gait, Thick eyebrow, Achilles tendon contracture, Sparse hair, Synophrys OMIM:611091
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
Cap Polyposis
Atrophic gastritis, Hematochezia, Colorectal polyposis ORPHA:160148
Proteus Syndrome
Rib exostoses, Exostosis of the external auditory canal, Generalized hirsutism, Visceral angiomat... ORPHA:744
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Gait ataxia, Titubation, Gait disturbance, Bradykinesia, Dysphagia ORPHA:225147
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation, Sparse body hair ORPHA:1810
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab... OMIM:601847
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Omenn Syndrome
Alopecia, Lymphoma, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eos... ORPHA:39041
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Alg6-Cdg
Protein-losing enteropathy, Puberty and gonadal disorders, Abnormality of the liver, Jaundice, At... ORPHA:79320
Dermoodontodysplasia
Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Melanocytic nevus, Trichodysplasia, Sp... ORPHA:1660
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Sparse hair, Delayed puberty, Anterior hypopituitarism ORPHA:631
Xp22.13P22.2 Duplication Syndrome
High anterior hairline, Umbilical hernia, Congenital diaphragmatic hernia, Polycystic ovaries, Ma... ORPHA:284180
Mucopolysaccharidosis, Type Iiic
Coarse hair, Hypertrichosis, Splenomegaly, Hirsutism, Hernia, Hepatomegaly, Dysphagia, Synophrys OMIM:252930
Immunodeficiency 7
Vitiligo, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alopecia, Lymphade... OMIM:615387
Woolly Hair Nevus
Precocious puberty, Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Hetero... ORPHA:79414
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Type I diabetes mellitus, Inflammation of the large intestine, Lymphoma, Lymp... ORPHA:436159
Systemic Mastocytosis With Associated Hematologic Neoplasm
Chronic lymphatic leukemia, Acute myeloid leukemia, Hematological neoplasm, Neutrophilia, Hepatom... ORPHA:98849
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, S... OMIM:612714
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Alopecia, Hypoplastic fingernail, Ascites, Leukopenia, Portal hypert... ORPHA:974
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Ataxia, Hypopigmentation o... ORPHA:411515
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Coarse hair, Respiratory distress, Inability to walk, Leukopenia, Lo... OMIM:617303
Johnson Neuroectodermal Syndrome
Alopecia, Hypogonadism, Absent eyelashes, Facial palsy, Absent eyebrow, Multiple cafe-au-lait spo... ORPHA:2316
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Muscle weakness, Respiratory distress, Splenomegaly, Macrocyti... OMIM:615512
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Long eyelashes, Thick eyebrow, Low anterior hairline, Hirsutism, Ataxia, Sparse hair OMIM:616819
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Generalized lipodystrophy, Sparse facial hair, Sparse axillary hair, Congenital generalized lipod... OMIM:608154
Kasabach-Merritt Phenomenon
Neoplasm of the skin, Hypopnea, Microangiopathic hemolytic anemia, Capillary hemangioma, Respirat... ORPHA:2330
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Thro... OMIM:300048
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse body hair, Ascites, Abnormality of the lymphatic system, Absent eyelashes, Absen... ORPHA:69735
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Lymphoma, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomeg... OMIM:615122
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Neoplasm of the skin, Generalized hypopigmentation of hair, Actinic kerato... ORPHA:352731
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Fine hair, Gait ataxia, Cryptorchidism, Hypothyroidism, Delayed puberty, Truncal ataxia, Sparse hair OMIM:616817
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse scalp hair OMIM:618535
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Neoplasm of the skin, Hypopigmentation of the skin, White hair, Ocular alb... ORPHA:79435
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Aplastic anemia, Thrombocytopenia OMIM:300514
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules OMIM:614072
Scarf Syndrome
Umbilical hernia, Inguinal hernia, Cryptorchidism, Low posterior hairline, Hypoplastic nipples, E... ORPHA:3134
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Sparse hai... OMIM:613102
Vici Syndrome
Albinism, Hypopigmentation of the skin, Abnormal posturing, Ocular albinism, Lymphopenia, Leukope... OMIM:242840
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Ileus, Splenomegaly, Hepatic steatosis, Hirsutism, Generalized muscle weakness,... OMIM:613327
Tetrasomy 12P
Abnormal soft palate morphology, Anal atresia, Sparse hair, Sparse eyebrow ORPHA:884
Punctate Palmoplantar Keratoderma Type 1
Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Nail dys... ORPHA:79501
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Ascites, Leukocytosis, Eosinophilia, Abnormality of the... ORPHA:2070
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymphadenopathy ORPHA:66661
Rapp-Hodgkin Syndrome
Sparse hair, Bifid uvula, Sparse eyebrow, Velopharyngeal insufficiency, Decreased number of sweat... OMIM:129400
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Flexion contracture, Sparse hair, Dysphagia, High palate OMIM:620001
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Respiratory distress, Ascites, Splenomegaly, Hepatomegaly ORPHA:2414
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Gastrointestinal hemorrhage, Tongue telangiectasia, Intestinal polyposis, Portal ... ORPHA:774
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, ... OMIM:603909
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Hepatic steatosis OMIM:620195
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Cholestasis, Decreased circulating T4 concentration, Ascites, Cryptor... OMIM:608104
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Anal fissure, Lymphopenia, Hepatospleno... OMIM:618935
Juvenile Polyposis Syndrome
Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Anemia, Neoplasm... OMIM:174900
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Abnormal dental enam... ORPHA:3253
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bone marrow hypocellularity, Intestinal bleeding, Oral leukoplakia, Fine hair, Premature graying ... OMIM:612199
Monosomy 22
Contractures of the large joints, Meningioma, Gonadal neoplasm, Schwannoma, Hepatosplenomegaly, A... ORPHA:96123
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Albinism, Hypopigmentation of the skin, Squamous cell carcinoma of the ski... ORPHA:79434
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Ankle flexion contracture, Coarse hair OMIM:619985
Sialuria
Inguinal hernia, Splenomegaly, Hirsutism, Low posterior hairline, Generalized hirsutism, Hypoplas... OMIM:269921
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Cutaneous melanoma, Squamous cel... ORPHA:79432
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Menkes Disease
Alopecia, Hypopigmentation of the skin, Brittle hair, Poor head control, Sparse hair OMIM:309400
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Portal hypertension, Splenomegaly, Cardiomegaly, Hypo... ORPHA:465508
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Lymphoma, Pancytopenia, Abnormal B cell... OMIM:308240
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypogonadotropic hypogonadism, Hypopigmentation of hair, Hypopigmentation ... ORPHA:177910
Eem Syndrome
Absent eyebrow, Abnormality of retinal pigmentation, Sparse scalp hair, Sparse body hair ORPHA:1897
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Autoimmune he... OMIM:616100
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Familial Pancreatic Carcinoma
Peritoneal abscess, Intestinal pseudo-obstruction, Colon cancer, Pancreatic adenocarcinoma, Exocr... ORPHA:1333
Rothmund-Thomson Syndrome Type 1
Neoplasm of the skin, Aplastic anemia, Alopecia totalis, Cryptorchidism, Melanoma, Neutropenia, B... ORPHA:221008
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Generalized hirsutism, Lipodystr... ORPHA:2348
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly, Hypoplastic toenails, Esophageal varix OMIM:616589
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Oculoskeletodental Syndrome
Protein-losing enteropathy, Elbow flexion contracture, Splenomegaly, Cryptorchidism, Low anterior... OMIM:618440
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hypertrichosis, Pancreatic lymphangiectasis, Ascites, Inguinal hernia... OMIM:235255
Dyskeratosis Congenita, Autosomal Dominant 2
Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Premature grayi... OMIM:613989
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Sparse lateral eyebrow, Thin eyebrow, Low anterior hairline, Sparse eyelashe...