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Gene: Mcm2 MGI:105380

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
minichromosome maintenance complex component 2
Synonyms:
Mcmd2,  BM28,  CDCL1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mcm2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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
Erythroid hypoplasia, Steroid-responsive anemia, 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
Transient erythroblastopenia, Anemia OMIM:227050
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Abnorm... ORPHA:401911
Cronkhite-Canada Syndrome
Hypoplastic toenails, Hamartomatous polyposis, Abnormality of skin pigmentation, Neoplasm, Stomac... ORPHA:2930
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Good Syndrome
Abnormal leukocyte morphology, Diabetes mellitus, Sinusitis, Cough, Mediastinal lymphadenopathy, ... ORPHA:169105
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia OMIM:600546
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Desmoid Disease, Hereditary
Colorectal polyposis, Breast carcinoma, Colon cancer, Desmoid tumors OMIM:135290
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic h... OMIM:269200
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... OMIM:610069
Mismatch Repair Cancer Syndrome 4
Glioblastoma multiforme, Astrocytoma, Adenomatous colonic polyposis, Colon cancer, Non-Hodgkin ly... OMIM:619101
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Cutaneous leiomyosarcoma, Spontaneous pneumothorax, Trichodiscoma, Fibrofolliculo... OMIM:135150
Myasthenia Gravis
Facial palsy, Proximal muscle weakness, Abnormality of the endocrine system, Thymoma, Fatigable w... OMIM:254200
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Alopecia, Autoimmune throm... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Hashimoto thyroiditis,... ORPHA:227982
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Fasting hyperinsulinemi... ORPHA:276152
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Lymphoid... ORPHA:210548
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Anemia... OMIM:616435
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hepatomegaly, Alopecia, Malabsorption, Splenomegaly, Lymphom... ORPHA:100025
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Neutropenia OMIM:617243
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... ORPHA:157798
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Brittle hair, Chronic hepatitis, Colitis, Uncombable hair, Cirrhos... OMIM:614602
Polyposis, Intestinal, With Multiple Exostoses
Intestinal polyposis, Multiple exostoses OMIM:175450
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
N Syndrome
Abnormality of chromosome stability, Leukemia OMIM:310465
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Curly hair, Cryptorchidism, Asthma, Hypopigmented skin patches, Gait disturb... ORPHA:457485
Transcobalamin Deficiency
Abnormality of chromosome stability, Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Bronchiectasis, Microvillar PAS-positive secretory granules OMIM:619445
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of retinal... ORPHA:873
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Inflammation of the large intes... OMIM:614700
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, He... OMIM:304790
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Splenomegaly, Thrombocytopenia, Enterocolitis, Reduced natural kil... OMIM:616050
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Hyperpigmentation of the skin, Malabsorption, Xerostomia, Hamartomatous polyposis, Hema... OMIM:175500
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... ORPHA:157794
Netherton Syndrome
Sparse scalp hair, Villous atrophy, Brittle hair, Allergic rhinitis, Brittle scalp hair, Sparse e... OMIM:256500
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Central hypoventilation, Neoplasm... ORPHA:251992
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Ataxia, Gait disturbance, Hepatomegaly ORPHA:2274
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+... OMIM:606367
Thymoma, Familial
Neoplasm, Respiratory insufficiency, Thymoma OMIM:274230
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Glioblastoma multif... ORPHA:144
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Increase... ORPHA:398063
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Diarrhea 9
Villous atrophy OMIM:618168
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Functional abnormality of th... ORPHA:388
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abnormal gastric mucosa morpho... ORPHA:263665
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Myasthenia, Limb-Girdle, Autoimmune
Thymoma, Ophthalmoparesis, Fatigable weakness, Neoplasm, Hashimoto thyroiditis OMIM:159400
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Gardner Syndrome
Duodenal polyposis, Astrocytoma, Brain neoplasm, Multiple gastric polyps, Abnormality of skin pig... ORPHA:79665
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... ORPHA:2929
Oliver-Mcfarlane Syndrome
Alopecia, Central heterochromia, Hypogonadotropic hypogonadism, Decreased response to growth horm... OMIM:275400
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Disseminated cutaneous war... ORPHA:90362
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Diabet... OMIM:614162
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Turcot Syndrome With Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... ORPHA:99818
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Intestinal polyposis, Abdominal wall muscle weakness, Abnormal la... ORPHA:109
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... OMIM:607624
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... ORPHA:480536
Syndromic Diarrhea
Villous atrophy, Brittle hair, Abnormality of the liver, Colitis, Hypoplasia of the thymus, Hepat... ORPHA:84064
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchi... OMIM:613490
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Flexion contracture, High palate, Nail dysplasia, Small nail, Arthrogryposis mul... OMIM:601110
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy, Irregular hyperpigmentation of back, Abnormal eyelash morphology, Melanocytic nevus,... ORPHA:1818
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Adenomatous colonic polyposis, Breast ca... OMIM:608615
Congenital Short Bowel Syndrome
Intestinal hypoplasia, Lipoatrophy, Sparse hair, Intestinal malrotation ORPHA:2301
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Steatorrhea, Protein-losing enteropathy, Hepatic fibrosis, Cirrhos... OMIM:602579
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Paronychia, Duodenitis, Onychogryposis OMIM:614328
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Aganglionic megacolon, Abnormal ey... ORPHA:2885
Dystonia 31
Abnormal posturing, Difficulty walking, Dysphagia OMIM:619565
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Inguinal hernia, Ataxia, Cryptorchidism, Fine hair, Gait disturbance, Sparse hair ORPHA:1174
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypogonadism, Sparse body hair, Muscle weakness ORPHA:85274
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Diaphragmatic paralysis, Fatigable ... ORPHA:99868
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, B-cell lymphoma, Lymphadenopathy ORPHA:52416
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Splenomegaly, Ophthalmoplegia, Flexion contracture, Dysphagia... ORPHA:77260
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Peutz-Jeghers Syndrome
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... ORPHA:2869
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Multiple lipomas, Papillary thyroid car... OMIM:175100
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni... ORPHA:1008
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Brittle hair, Curly hair, Increased mean platelet volume, Splenome... OMIM:222470
Mccune-Albright Syndrome
Intestinal polyposis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone c... OMIM:174800
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... OMIM:605724
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Pancreatic islet cell adenoma... ORPHA:97289
Trichothiodystrophy 9, Nonphotosensitive
Ataxia, Sparse eyebrow, High, narrow palate, Nail dystrophy, Sparse hair, Tiger tail banding OMIM:619692
Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... OMIM:617294
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Interphalangeal joint contracture of finger, Widow's peak, Knee flexion contracture, Sparse hair,... OMIM:606242
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Ataxia, Decreased response to growth hormone stimulation test, Cryptorchidism, Pigmenta... ORPHA:3363
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Malabsorp... OMIM:557000
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Hypermelanotic macule, Bile duct polyp, Rectal prolapse, Biliary tract ... OMIM:175200
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Intestinal obstruction, Hypopigmentation of hair, Aganglioni... ORPHA:897
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Anal atresia OMIM:227260
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Cowden Syndrome 7
Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, He... OMIM:616858
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Cryptorchidism, Tachypnea, Normochromic anemia, Gastroesophageal reflux, Letharg... OMIM:614857
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Malabsorpti... OMIM:600955
Mismatch Repair Cancer Syndrome 2
Multiple cafe-au-lait spots, Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon... OMIM:619096
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Immunodeficiency 104
Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux OMIM:608971
Immunodeficiency 85 And Autoimmunity
Villous atrophy, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphope... OMIM:619510
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Apnea, Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Cleft palate, Ac... ORPHA:1052
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Oropharyngeal squamous cell carcinoma, T lymphocytopenia, Autoimmune thrombocyto... ORPHA:391487
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Villous atrophy, Hepatomegaly, Hypergonadotropic hypogonadism, Ataxia, Abnorma... OMIM:212065
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic lung disease, Chronic noninfectious lymphadenopathy, Neoplasm of head and neck, Goiter, B... ORPHA:97290
Griscelli Syndrome
Hepatomegaly, Abnormal eyebrow morphology, Ataxia, Abnormality of neutrophils, Abnormal eyelash m... ORPHA:381
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... OMIM:619377
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of skin pigmentation, Atrophic scars, Nail dystrophy, Ena... ORPHA:79402
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Colitis,... OMIM:209920
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Gastrointestinal hemorrhage, Epistaxis, Portal hypertension, Microcytic ane... ORPHA:774
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Atrophic scars, Sparse hair, Sp... ORPHA:79133
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Familial Melanoma
Neoplasm of the pancreas, Neoplasm of the stomach, Abnormal hair morphology, Abnormality of the l... ORPHA:618
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Aplastic anemia, Hepatic necrosis, Premature graying of hair, Leukopenia, Sparse hai... OMIM:127550
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Hypopigmentation of the skin, Astrocytoma, Non-Hodgkin lymphoma, Rhabdom... OMIM:276300
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Immunodeficiency 54
Splenomegaly, Chromosome breakage, Reduced natural killer cell count OMIM:609981
Grfoma
Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent ... ORPHA:97261
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... ORPHA:895
Cowden Syndrome 1
Colonic diverticula, Hyperthyroidism, Subcutaneous lipoma, Fibroadenoma of the breast, Thyroiditi... OMIM:158350
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Camptodactyly of finger, Ridged fingernail, Hypopigmented skin patches, Fingernail dysp... ORPHA:2251
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Early balding, Adenomatous colonic polyposis, Desmoid tumors, Low posterior h... ORPHA:261584
Juvenile Nasopharyngeal Angiofibroma
Epistaxis, Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis ORPHA:289596
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Neutropenia ORPHA:90023
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Normocytic anemia, Hepatomegaly, Pancytopenia, Abnormal fingernail morpho... ORPHA:75564
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Cowden Syndrome 5
Colonic diverticula, Hyperthyroidism, Subcutaneous lipoma, Thyroiditis, Breast carcinoma, Furrowe... OMIM:615108
Cowden Syndrome 6
Colonic diverticula, Hyperthyroidism, Subcutaneous lipoma, Fibroadenoma of the breast, Thyroiditi... OMIM:615109
Benign Schwannoma
Intestinal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestib... ORPHA:252164
Piebaldism
Hypopigmentation of hair, White eyelashes, Ataxia, Aganglionic megacolon, White eyebrow, Synophry... ORPHA:2884
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, ... OMIM:619164
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Anal stenosis, Macrocytic anemia, Aga... OMIM:250250
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Neoplasm of head and neck, Follicular thyroid carcinoma, A... ORPHA:319487
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... ORPHA:59303
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Lymphadenopathy, Macrogl... ORPHA:2221
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Aganglionic megacolon, Ataxia, Blue irides, Hypopigmented skin pa... OMIM:277580
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Ataxia-Telangiectasia
Lymphopenia, Hypopigmentation of hair, Diabetes mellitus, Ataxia, Polycystic ovaries, Premature g... ORPHA:100
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, High, narrow palate, Rectal prolapse, Adenomatous... ORPHA:79076
Fg Syndrome 3
Pyloric stenosis, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture OMIM:300406
Waardenburg Syndrome, Type 4B
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... OMIM:613265
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair, Male hypogonadism, Cafe... OMIM:618625
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Dysphagia, Pigmentary retinopathy, Tip-toe gait, Gait disturbance, Aspiration ... ORPHA:216866
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
X-Linked Sideroblastic Anemia
Dyspnea, Splenomegaly, Anemia, Muscle weakness, Hyperpigmentation of the skin ORPHA:75563
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Chylomicron Retention Disease
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea OMIM:246700
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Squamous cell carcinoma, Basal cell carcinoma, Onych... OMIM:224750
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Ataxia, Inability to walk, Respiratory failure, Gastroesophageal reflux... ORPHA:70472
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Hepatic steatosis, Decreased proportion of CD4-positive T ce... OMIM:619573
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Neutropenia, Hypopigmentation of the skin, Foot dorsiflexo... OMIM:214500
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... OMIM:114500
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Lymphoma, Recurrent tonsillitis, Bronchiectasis, Lymphaden... ORPHA:397596
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Increased mitochondrial number, Protein-losing enteropathy OMIM:619063
Icf Syndrome
Anemia, Abnormality of chromosome stability, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... ORPHA:201
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Brittle hair, Trichoschisis, Malabsorption, Asthma, Flexion contracture, ... OMIM:601675
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Aicardi Syndrome
Intestinal polyposis, Abnormality of retinal pigmentation, Hiatus hernia, Malabsorption, Precocio... ORPHA:50
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Recurrent s... OMIM:613101
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, ... ORPHA:567983
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Hypop... ORPHA:33445
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Neoplasm ORPHA:172
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Bifid ... ORPHA:1433
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Hypopigmented skin patches,... ORPHA:1807
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ... OMIM:619375
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... ORPHA:79301
Fanconi Anemia, Complementation Group S
Chromosome breakage, Anemia OMIM:617883
Familial Adenomatous Polyposis 4
Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian c... OMIM:617100
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Splenomegaly... OMIM:612526
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cleft palate, Nail dystrophy, Trichodys... ORPHA:2890
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal testis morphology, Pi... ORPHA:202
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Dyspnea, Sea-blue histiocyt... OMIM:607616
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Absent facial hair, Sparse facial hair, High, narrow palate, Low ... ORPHA:2183
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Basal cell carcinoma, Coarse hair,... ORPHA:113
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemogl... ORPHA:231401
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Hypogonadism, Decreased testicular size, Sparse body hair ORPHA:261483
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Hypopigmented skin pat... ORPHA:2584
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... ORPHA:2585
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Episodic tachypnea, High, na... ORPHA:2872
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
Vascular Hyalinosis
Malabsorption, Hematochezia, Premature graying of hair, Protein-losing enteropathy, Chorioretinal... OMIM:277175
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... OMIM:619975
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, High, narrow palate, Umbilical hernia, Cryptorchidism OMIM:273390
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer, Endome... OMIM:613244
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Alg9-Cdg
Omphalocele, Hepatomegaly, Villous atrophy, Lipodystrophy, Hepatic cysts, Asthma, Low posterior h... ORPHA:79328
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, B-cell lymphom... OMIM:619381
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Intestinal malrotation, Jejunoileal ulc... ORPHA:436252
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Jaundice, L... ORPHA:79477
Nicolaides-Baraitser Syndrome
Alopecia, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, High, narrow palate, Cry... ORPHA:3051
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Dysphagia, Respiratory insufficiency, Sparse hair, Aspiration pneumonia, N... OMIM:618253
Dyskeratosis Congenita
Abnormality of neutrophils, Anorectal anomaly, White hair, Premature graying of hair, Neoplasm, S... ORPHA:1775
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Ataxia, Dyspnea, Splenomegaly, Flexion contracture, Umbilical hern... ORPHA:87876
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal hair mo... ORPHA:894
Sandifer Syndrome
Hiatus hernia, Hematemesis, Gastroesophageal reflux, Esophagitis, Abnormal posturing, Anemia ORPHA:71272
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Bazex-Dupre-Christol Syndrome
Hyperpigmentation of the skin, Furrowed tongue, Basal cell carcinoma, Coarse hair, Sparse hair, T... OMIM:301845
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Aredyld
Generalized hypotrichosis OMIM:207780
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Allergic rhinitis, Malabsorption, Leukoc... ORPHA:2070
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Fanconi Anemia, Complementation Group R
Anemia, Chromosomal breakage induced by crosslinking agents OMIM:617244
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Medulloblastoma
Total ophthalmoplegia, Ataxia, Adenomatous colonic polyposis, Medulloblastoma, Spinal cord tumor,... ORPHA:616
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundice, Asthma,... OMIM:612714
Sea-Blue Histiocyte Disease
Splenomegaly, Cirrhosis, Absent axillary hair, Sea-blue histiocytosis, Thrombocytopenia OMIM:269600
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Neoplasm, Hepatoblastoma, Polycyth... ORPHA:116
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia, Chronic... OMIM:613502
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Schöpf-Schulz-Passarge Syndrome
Alopecia, Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma, Sparse hair, Aplasia/H... ORPHA:50944
Moynahan Syndrome
Sparse hair, Alopecia, Hypogonadism ORPHA:2574
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Anemia, ... ORPHA:3322
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Allergic rhinitis, Absent facial hair, Abnormalit... ORPHA:90368
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Lipoatrophy, Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia ... ORPHA:261304
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Inflammation of the large i... OMIM:300635
Cardiofaciocutaneous Syndrome 2
Curly hair, Absent eyebrow, Fine hair, High palate, Sparse hair OMIM:615278
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Gastroesophageal... ORPHA:2414
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair OMIM:129490
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... ORPHA:2457
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Fanconi Anemia, Complementation Group E
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Reticulocyto... OMIM:600901
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Follicular hyperplasi... OMIM:614470
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Dysphagia OMIM:304700
Hereditary Mucoepithelial Dysplasia
Alopecia, Anorectal anomaly, Tracheoesophageal fistula, Fine hair, Furrowed tongue, Sparse hair ORPHA:1839
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomeg... OMIM:235200
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... ORPHA:846
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation... OMIM:256710
Wolman Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Adre... ORPHA:75233
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... OMIM:619463
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis, Anal atresia OMIM:119580
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Increased T cell count, Inflammation of t... ORPHA:98813
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Thrombocytopenia, Per... OMIM:617052
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Abnormal hair morphology, Abnorma... ORPHA:2963
Trichodental Dysplasia
Brittle hair, Slow-growing hair, Odontodysplasia, Fine hair, Sparse hair OMIM:601453
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Esophageal varix, Portal hypertension, Hepatomegaly OMIM:617068
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Malabsorption ORPHA:42642
Adams-Oliver Syndrome 5
Inguinal hernia, Hypersplenism, Splenomegaly, Portal vein thrombosis, Hypoplastic toenails, Esoph... OMIM:616028
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Aganglionic megacolon, Ataxi... ORPHA:163746
Fanconi Anemia, Complementation Group A
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Reticulocyto... OMIM:227650
Hawkinsinuria
Sparse hair, Hypothyroidism, Fine hair ORPHA:2118
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Splenomegaly, Anemia, Choreoathetosis, Neutropenia, Lethargy,... ORPHA:79312
Familial Colorectal Cancer Type X
Flexion contracture, Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarc... ORPHA:440437
Ruijs-Aalfs Syndrome
Lipodystrophy, Elbow flexion contracture, Premature graying of hair, Hypogonadism, Hepatocellular... OMIM:616200
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Muir-Torre Syndrome
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... ORPHA:587
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Flexion contracture, Sparse body hai... ORPHA:2850
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... ORPHA:64743
Fanconi Anemia, Complementation Group P
Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents OMIM:613951
Jaberi-Elahi Syndrome
Broad-based gait, Brittle hair, Sparse eyelashes, Distal muscle weakness, Sparse eyebrow, Inabili... OMIM:617988
Fanconi Anemia, Complementation Group N
Aplastic anemia, Chromosomal breakage induced by crosslinking agents OMIM:610832
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Chromosomal breakage induced ... OMIM:620133
Familial Multinodular Goiter
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular... ORPHA:276399
Trichothiodystrophy 5, Nonphotosensitive
Broad-based gait, Brittle hair, Slow-growing hair, Sparse eyebrow, Gait ataxia, Reduced hair sulf... OMIM:300953
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, ... OMIM:618892
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Braddock-Carey Syndrome 1
Curly hair, Cleft palate, Anteriorly placed anus, Camptodactyly, Sparse hair, Enamel hypoplasia, ... OMIM:619980
Immunodeficiency 16
Splenomegaly, Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, ... ORPHA:436159
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... OMIM:615513
Bloom Syndrome
Adipose tissue loss, Paronychia, Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Stoma... ORPHA:125
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Huntington Disease-Like 1
Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Abnormal posturing ORPHA:157941
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi... OMIM:615512
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... OMIM:211600
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Intestinal obstruction, H... ORPHA:3440
Lig4 Syndrome
Leukocytosis, Abnormality of chromosome stability, Pancytopenia, Acute leukemia ORPHA:99812
10Q22.3Q23.3 Microdeletion Syndrome
Intestinal polyposis, Breast aplasia ORPHA:276413
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Ataxia, Abnormality of skin pigmentation, Bone marrow hypocellularity, Nail dystrophy, ... OMIM:616353
Even-Plus Syndrome
Highly arched eyebrow, Synophrys, High palate, Sparse hair, Anal atresia OMIM:616854
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Down Syndrome
Aganglionic megacolon, Protruding tongue, Abnormality of the lymphatic system, Narrow palate, Acu... ORPHA:870
Anauxetic Dysplasia 2
Flexion contracture, Macroglossia, Nail dysplasia, Small nail, Sparse hair OMIM:617396
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Poor head control, Ataxia, Inability to walk, Dysmetria, Sparse hair, Hirsutism OMIM:618087
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Ataxia, Thick hair, Splenomegaly, Cirrhosis, Recurrent infection of the gastrointes... OMIM:613489
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the lymphatic syste... ORPHA:69735
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Werner Syndrome
Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, Neoplasm, Thyroid carcin... ORPHA:902
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Rhinitis, Hernia, Generalized hirsutism ORPHA:93476
Cholesteryl Ester Storage Disease
Hepatomegaly, Adrenal calcification, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis ORPHA:75234
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Enamel hypoplasia, Cardiomegaly OMIM:613576
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Hypogonadism, Poikilo... OMIM:615234
Immunodeficiency 27A
Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocytosis, Enlarged mesenteric lymph no... OMIM:209950
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly... OMIM:618935
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairli... OMIM:613224
Hermansky-Pudlak Syndrome 3
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Albinism, Hypopigmentation of the ski... OMIM:614072
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... OMIM:608612
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Type I diabetes mellitus, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypopl... ORPHA:181
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Alopecia, Portal hypertension, Congenital hepatic fibrosis, Esophage... ORPHA:974
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Folate-dependent fragile site at Xq28 ORPHA:85327
Piebald Trait
Absent pigmentation of the ventral chest, Aganglionic megacolon, Partial albinism, Piebaldism, Ne... OMIM:172800
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Sinusitis, Hypermelanotic macule, Abnormality of neutrophils, Malabs... ORPHA:379
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Splenomegaly, Thrombocytopenia, Asthma, Recurrent pneumonia, ... OMIM:170100
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Cirrhosis, Lethargy, Hype... OMIM:602390
Trichothiodystrophy 8, Nonphotosensitive
Head titubation, Sparse eyebrow, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:619691
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Diabetes mellitus, Distal muscle weakness, Dorsocervical fat pad, Synophrys, Lo... ORPHA:391408
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Dystonia 1, Torsion, Autosomal Dominant
Multiple joint contractures, Facial palsy, Inability to walk, Dysphagia, Abnormal posturing OMIM:128100
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Splenomegaly, Refractory anemia wit... ORPHA:1133
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... OMIM:203300
2Q32Q33 Microdeletion Syndrome
Cleft palate, Fine hair, High palate, Sparse hair, Decreased testicular size ORPHA:251019
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Proteus Syndrome
Central heterochromia, Pulmonary embolism, Neoplasm of the thymus, Neoplasm of the central nervou... ORPHA:744
Filippi Syndrome
Sparse hair, Cryptorchidism, Frontal hirsutism, Hypertrichosis OMIM:272440
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Splenomegaly, Lymphoma, Respiratory insufficiency, Lymphadenopathy, Neoplas... ORPHA:391
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Pneumonia, Lymphadenitis, Cellulitis, Recurrent p... ORPHA:51636
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... OMIM:613470
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati... OMIM:104100
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen... OMIM:616100
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Generalized hyperpigmentation, Ataxia, Malabsorption, ... ORPHA:3452
Fanconi Anemia, Complementation Group C
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Reticulocyto... OMIM:227645
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Follicular hyperplasia, Tachypnea, Paratracheal lymphadenopathy, L... OMIM:615934
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Intellectual Developmental Disorder, Autosomal Recessive 5
Broad-based gait, Achilles tendon contracture, Synophrys, Sparse hair, Thick eyebrow OMIM:611091
Gand Syndrome
Sparse hair OMIM:615074
Sporadic Infantile Bilateral Striatal Necrosis
Gait ataxia, Titubation, Bradykinesia, Gait disturbance, Dysphagia, Abnormal posturing ORPHA:225147
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Splenomegaly, Cough, Lethargy ORPHA:99745
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Polycystic ovaries, High palate, Sparse hair, Macroorchidism, Um... ORPHA:284180
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... OMIM:160980
Cholesteryl Ester Storage Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Portal hypertension, Hypersplenism, ... OMIM:278000
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Inabilit... OMIM:617303
Mismatch Repair Cancer Syndrome 3
Glioblastoma multiforme, Astrocytoma, Axillary freckling, Lymphoma, T-cell lymphoma, Neoplasm of ... OMIM:619097
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair ORPHA:1810
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Esophageal atresia, Cryptorchidism, Thrombocytopeni... OMIM:227646
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Lipodystrophy, Proximal muscle weakness, Splenomegaly, Pyloric stenosis, Ileus, Hyp... OMIM:613327
Alg6-Cdg
Ataxia, Puberty and gonadal disorders, Jaundice, Increased circulating androgen concentration, Ma... ORPHA:79320
Lelis Syndrome
Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Furrowed tongue, Nail dystrophy... ORPHA:140936
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... OMIM:602400
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... OMIM:613102
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... OMIM:615280
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly, Synophrys, Coarse hair, Hernia, Dysphagia, Hirsutism, Hypertrichosis OMIM:252930
Omenn Syndrome
Hepatomegaly, Alopecia, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, Thyroiditi... ORPHA:39041
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... OMIM:314050
Dermoodontodysplasia
Sparse scalp hair, Melanocytic nevus, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, S... ORPHA:1660
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Facial palsy, Absent eyelashes, Cleft palate, Multiple cafe-au-lait spo... ORPHA:2316
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Facial palsy, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax, Bro... OMIM:612387
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... ORPHA:79414
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis, Endometrial carcinoma OMIM:612591
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Thick eyebrow, Ataxia, Low anterior hairline, Long eyelashes, Sparse hair, Hirsutism OMIM:616819
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Gait ataxia, Fine hair, Truncal ataxia, Sparse hair, Hypothyroidism, Delayed puberty OMIM:616817
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly... ORPHA:98849
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Congenital generalized lipodystrophy, Sparse facial hair, Sparse axillary hair, Generalized lipod... OMIM:608154
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hypopigmentation of hair, Ataxia, Hypopigmentation of the skin, Iris hypopigmen... ORPHA:411515
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... ORPHA:131
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc... OMIM:615387
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Xerostomia,... OMIM:614941
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Colitis, Decreased basophil count... OMIM:618394
Tetrasomy 12P
Abnormal soft palate morphology, Sparse eyebrow, Sparse hair, Anal atresia ORPHA:884
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair OMIM:618535
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Aplastic anemia, Thrombocytopenia OMIM:300514
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Hematochezia, Hamartomatous polyposis, Gastrointe... OMIM:175050
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormality of retinal pigmentation, Inguinal hernia, Intestinal pseudo-obstruction... OMIM:309900
Sézary Syndrome
Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Nail ... ORPHA:3162
Chédiak-Higashi Syndrome
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... ORPHA:167
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Thrombocytopenia, Neutropenia, Abnormal lymphatic vessel m... ORPHA:2330
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Velopharyngeal insuffi... OMIM:129400
Vici Syndrome
Hypopigmentation of hair, Albinism, Decreased proportion of CD4-positive helper T cells, Neutrope... OMIM:242840
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Fine hair, Anemia, Premature graying of hair, Intestinal bleeding, Bone marrow hypocellul... OMIM:612199
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Synophrys, Protein-losing enteropathy, Spontaneous pneumothorax OMIM:618154
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair, Flexion contracture, High palate, Dysphagia OMIM:620001
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Thrombocytopenia, Cholestasis, Protein-losing enteropathy, Camptoda... OMIM:608104
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... OMIM:602347
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Scarf Syndrome
Inguinal hernia, Cryptorchidism, Hepatocellular adenoma, Low posterior hairline, Hypoplastic nipp... ORPHA:3134
Obesity And Hypopigmentation
Red hair, Hepatic steatosis, Hyperinsulinemia OMIM:620195
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... OMIM:613011
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Alopecia, Barrett... ORPHA:90291
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Aplastic anemia, Splenomegaly, Lymphoma... OMIM:615122
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Squamous cell carcinoma, Neutropenia, Sparse hair, Hypopigmentation of the skin,... ORPHA:221008
Mucoepithelial Dysplasia, Hereditary
Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Furrowed tongue, Melena, Coarse hair, Nai... OMIM:158310
Sialuria
Hepatomegaly, Inguinal hernia, Splenomegaly, Synophrys, Low posterior hairline, Macroglossia, Hig... OMIM:269921
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Cryptorchidism, Splenomegaly, Pancreatic... OMIM:235255
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip... ORPHA:2348
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... OMIM:603909
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair, Ankle flexion contracture OMIM:619985
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Intrahepatic cholestasis, Jaundice, Acholic sto... OMIM:607765
Menkes Disease
Alopecia, Brittle hair, Poor head control, Sparse hair, Hypopigmentation of the skin OMIM:309400
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Epistaxis, Abnormal dent... ORPHA:79430
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Abnormality of retinal pigmentation, Sparse body hair ORPHA:1897
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia... ORPHA:822
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Iron deficiency anemia, Colitis, Neutropenia, Hypothyroidism, Alopecia, Hyp... ORPHA:37042
Oculoskeletodental Syndrome
Hepatomegaly, Splenomegaly, Cryptorchidism, Low anterior hairline, Elbow flexion contracture, Low... OMIM:618440
Adams-Oliver Syndrome 6
Portal hypertension, Hypoplastic toenails, Splenomegaly, Esophageal varix, Hepatic fibrosis OMIM:616589
Joubert Syndrome 37
Hepatomegaly, Cryptorchidism, High palate, Sparse hair, Decreased testicular size OMIM:619185
Majeed Syndrome
Hepatomegaly, Congenital hypoplastic anemia, Malabsorption, Splenomegaly, Leukocytosis, Flexion c... ORPHA:77297
Omenn Syndrome
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thromboc... OMIM:603554
Revesz Syndrome
Aplastic anemia, Ataxia, Nail pits, Fine hair, Bone marrow hypocellularity, Nail dystrophy, Spars... OMIM:268130
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Proximal muscle weakness, Lymphadenitis, Splenomegaly, Leukocytosis, Cholestasis, L... OMIM:615895
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... ORPHA:824
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Synophrys, Bilateral cleft li... ORPHA:3253
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Iris hypop... ORPHA:177910
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Esophageal stricture, Premature gra... OMIM:613989
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Ataxia, Epistaxis, Abnormality of n... ORPHA:33226
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Alopecia, Gastritis, Mediastinal lym... ORPHA:809
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Hypopigmentation of hair, Protruding tongue, Gait imbalance, Dysphagia, Hypopig... ORPHA:98795
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Felty Syndrome
Hepatomegaly, Sinusitis, Generalized hyperpigmentation, Splenomegaly, Thrombocytopenia, Lymphoma,... ORPHA:47612
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Dyspnea, Lymphadenopathy, Cough, Achalasia ORPHA:3386
Cutis Laxa, Autosomal Recessive, Type Iiib
Inguinal hernia, Pyloric stenosis, Cryptorchidism, Flexion contracture, Elbow flexion contracture... OMIM:614438
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Squamous cell carcinoma, High palate, Neutropenia, Sparse hair, Hypopigmentation... ORPHA:221016
Monosomy 22
Aplasia of the thymus, Schwannoma, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, ... ORPHA:96123
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Hypopigmentation of hair, Ataxia, Protruding tongue, Gait imbalance, Dysphagia,... ORPHA:411511
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Chronic lung disease, Severe B lymphocytopenia, Acute respiratory distress synd... OMIM:620005
Pancreatic Colipase Deficiency
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... ORPHA:309108
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, High, narrow palate, Low anterior hairline, Thin eyebrow, Sparse hair, Pili tor... ORPHA:1787
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis ORPHA:664
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Neutropenia OMIM:609053
Cap Polyposis
Hematochezia, Atrophic gastritis, Colorectal polyposis ORPHA:160148
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... OMIM:234050
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Cafe-au-lait spot, Hypopigmentation of the ... OMIM:618541
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, B... OMIM:226990
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology, Abnormal dental enamel ... ORPHA:1515
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Respiratory insufficiency due to muscle weakness, Splenomegaly, Dyspn... OMIM:232300
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Leukemia OMIM:210900
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Fanconi Anemia, Complementation Group F
Anemia, Leukopenia, Thrombocytopenia, Chromosomal breakage induced by crosslinking agents OMIM:603467
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Camptodactyly of finger, Coarse hair, Joint contracture of the 5th finger, Sparse hair ORPHA:1883
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Diabetes mellitus, Ataxia, Inguinal hernia, Cryptorchidism, Dysmetria, Dysdiado... OMIM:616541
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Common Variable Immunodeficiency
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenome... ORPHA:1572
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... OMIM:604536
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Abnormal lymph... OMIM:612840
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:1006
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hyperpigmentation of the skin, Epistaxis, Hypersplenism, Splenomegaly... OMIM:230800
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Inguinal hernia, Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, White hair, F... ORPHA:935
Bainbridge-Ropers Syndrome
Thick eyebrow, Intestinal malrotation, Highly arched eyebrow, Supernumerary nipple, Precocious pu... OMIM:615485
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Cough, Splenomegaly, Thrombocytopenia, Ophthalmoplegia, Stridor, Gastroesoph... OMIM:230900
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Alopecia, Absent eyebrow, Hyperpigmentation of the skin, Splenome... OMIM:263700
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Intellectual Developmental Disorder, Autosomal Dominant 54
Poor head control, Apnea, Ataxia, Thin nail, Inability to walk, Gastrointestinal dysmotility, Gas... OMIM:617799
Incontinentia Pigmenti
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Scarring, Leukocytosis, Nail pits, Fin... OMIM:308300
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypogonadotropic hypogonadism, Facial palsy, Tracheoesophageal fistula, Ophthalmoparesis, Sparse ... ORPHA:3068
Fanconi Anemia, Complementation Group L
Anemia, Chromosome breakage, Chromosomal breakage induced by crosslinking agents OMIM:614083
Scedosporiosis
Bronchial breath sound, Sinusitis, Diabetes mellitus, Pneumonia, Abnormal respiratory system phys... ORPHA:449280
Shukla-Vernon Syndrome
Sparse hair, Broad-based gait OMIM:301029
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasis, Pulmona... ORPHA:1655
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ... OMIM:268400
Oculocutaneous Albinism Type 1
White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme... ORPHA:352731
Abetalipoproteinemia
Fat malabsorption, Ataxia, Acanthocytosis OMIM:200100
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Thrombocytopenia, Respiratory insufficiency, Fine hair, Leukopenia, H... OMIM:222700
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pne... OMIM:620296
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Hepatomegaly, Absent platelet dense granules, Fair hair, Albinism... OMIM:608233
Alg1-Cdg
Abnormality of the gastrointestinal tract, Respiratory failure, Protein-losing enteropathy ORPHA:79327
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Bi... OMIM:615710
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Splenomegaly, Synophrys, Coarse hair, Umbilical hernia, Hirsutism OMIM:252900
Legionnaires Disease
Ataxia, Splenomegaly, Jaundice, Cellulitis, Hepatitis, Respiratory insufficiency, Lymphadenopathy... ORPHA:549
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepat... ORPHA:79319
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Synophrys, Low posterior hairline, Thin eyebrow, Sparse hair OMIM:619320
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... OMIM:602450
Erythrocytosis, Familial, 1
Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion... OMIM:133100
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated... ORPHA:3261
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Sparse body hair, Decreas... OMIM:300869
Hamamy Syndrome
Hypoparathyroidism, Inguinal hernia, Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Cryptor... OMIM:611174
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-obstruction, Functional intestina... ORPHA:1333
Desbuquois Syndrome
Sparse hair, Camptodactyly of finger, Abnormal eyelash morphology ORPHA:1425
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Inguinal hernia, Apnea, Ataxia, Portal hypertension, Highly arched eyebrow, Splenom... ORPHA:1454
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:242300
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal hair quantity, Abnormal fingernail morphology... ORPHA:2796
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... ORPHA:280365
Sea-Blue Histiocytosis
Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue ... ORPHA:158029
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminant ... ORPHA:2137
Agel Amyloidosis
Tongue atrophy, Ataxia, Facial palsy, Xerostomia, Abnormal spleen morphology, Nail dystrophy, Spa... ORPHA:85448
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Inguinal hernia, Malabsorption, Atypical s... ORPHA:565
Rothmund-Thomson Syndrome
Aplastic anemia, Sparse eyelashes, Myelodysplasia, Alopecia totalis, Sparse eyebrow, Abnormal den... ORPHA:2909
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Brittle hair, Generalized hyperpigmentation, Slow-grow... ORPHA:1340
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Sparse eyebrow OMIM:619989
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Abnormality of retinal pigmentation, Sparse hair ORPHA:1264
Opitz-Kaveggia Syndrome
Anal stenosis, Multiple joint contractures, Inguinal hernia, Intestinal malrotation, Pyloric sten... OMIM:305450
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Muscle weakness ORPHA:56425
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Cryptorchidism, Blue irides, Congenital hypothyroidism, Red hair, Fair hair OMIM:614613
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Sparse hair OMIM:620075
Glass Syndrome
Broad-based gait, Inguinal hernia, Apnea, Cleft palate, High palate, Long eyelashes, Nail dysplas... OMIM:612313
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... ORPHA:1359
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Muscle weakness, Exertional dyspnea ORPHA:90037
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis... OMIM:606721
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Colitis, Coug... ORPHA:3260
Sepsis In Premature Infants
Hepatomegaly, Abnormal mucociliary clearance, Splenomegaly, Gastrointestinal dysmotility, Leukocy... ORPHA:90051
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Steatorrhea OMIM:235555
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Cryptorchidism, Athetosis, Sparse hair, Umbilical hernia OMIM:219150
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Gastroesophageal reflux, Hyperconvex nail OMIM:619721
Cog8-Cdg
Poor head control, Protein-losing enteropathy, Ataxia ORPHA:95428
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Ataxia, Portal hypertension, Splenomega... OMIM:615688
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Melan... ORPHA:79434
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair, Retinal pigment epithelial mottling, High palate OMIM:614105
Papillon-Lefèvre Syndrome
Liver abscess, Abnormal fingernail morphology, Cigarette-paper scars, Hypopigmented skin patches,... ORPHA:678
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Poor head control, Apnea, Albinism, Splenomegaly, Ocular albinism, Neutropenia OMIM:617050
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Leukonychia, High palate, Sparse hair,... ORPHA:77258
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Lipoatrophy, Absent eyelashes, Pulmonary carcinoid tumor, Papillary renal cell ca... ORPHA:363618
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Low posterior hairline, Normochromic ane... OMIM:611881
Rodrigues Blindness
Sparse hair, Nasal flaring, Fine hair OMIM:268320
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Inguinal hernia, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism, S... OMIM:612541
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Recurrent pneumonia, Cleft palate, Furrowed tongue, Gastroesophageal reflux, Hig... OMIM:616449
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Macs Syndrome
Alopecia, Hypergonadotropic hypogonadism, Sparse eyebrow, Cryptorchidism, Bronchiectasis, High pa... OMIM:613075
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Ataxia, Bone-marrow foam cells, Fetal ascites, Splen... OMIM:607625
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Cleft palate, Patchy ... OMIM:106260
Biotinidase Deficiency
Hepatomegaly, Alopecia, Apnea, Ataxia, Splenomegaly, Tachypnea, Lethargy OMIM:253260
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, High, narrow palate, Hypopigmented skin patches, Gait disturbance, Mult... ORPHA:3214
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Hypogonadism, Hypoplastic nipples, Small nail OMIM:273400
Waardenburg Syndrome, Type 4C
White eyelashes, Aganglionic megacolon, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented... OMIM:613266
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Lipodystrophy, Thick hair, Abnormal subcutaneous fat tissue distribution, Coarse... ORPHA:357074
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Ataxia, Abnormal fingernail morphology, Slow-growing hair, Abnormal den... ORPHA:2710
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Narrow palate, Fine hair, Thin eyebrow, ... OMIM:190350
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, High, narrow palate, Cry... ORPHA:2108
Chops Syndrome
Curly hair, Thick eyebrow, Thick hair, Splenomegaly, High, narrow palate, Cryptorchidism, Synophr... OMIM:616368
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Progressive muscle weakness, Esoph... ORPHA:264580
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short uvula, Cleft palate, Fine hair, High palate, Hepatic fibrosis, Nail dysplasia, Sparse hair,... OMIM:614091
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Hypopigmentation of hair, Ataxia, Protruding tongue, Gait imbalance, Dysphagia,... ORPHA:98794
Degcags Syndrome
Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Le... OMIM:619488
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Hematochezia, Acholic ... OMIM:613812
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Camptodactyly of toe, Hypogonadism, Sparse hair, Decreased testicular size, Thick... ORPHA:127
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Submucous cleft ha... OMIM:115150
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Poor head control, Brittle hair, Inguinal hernia, Cardiomegaly, Sparse eyebrow, Spl... OMIM:252500
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Chromosome 5P13 Duplication Syndrome
Sparse hair, High palate, Low posterior hairline OMIM:613174
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pigmenta... OMIM:268020
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Splenomegaly, Paronychia, Hypogonadism, Lethargy, Decreased serum testoster... OMIM:201100
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Progressive muscle weakness, Limb-girdle muscle weakness, Hepatocellu... ORPHA:79240
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Hip contracture, Ataxia, Splenomegal... OMIM:216400
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail... OMIM:305100
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Hypogonadism, Type II diabetes mellitus, Sparse body hair, Decr... ORPHA:2234
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Marshall-Smith Syndrome
Brittle hair, Apnea, Bilateral cryptorchidism, Synophrys, Anteriorly placed anus, Glossoptosis, H... OMIM:602535
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Xerostomia, Aplasia/Hypoplasia of the eyebr... ORPHA:238468
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Kaposiform Lymphangiomatosis
Epistaxis, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system,... ORPHA:464329
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Spar... ORPHA:217346
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Intestinal malrotation, Hiatus hernia, Precocious puberty, Cryptorchidism, Unsteady gait, Gastroe... OMIM:616682
Nijmegen Breakage Syndrome
Hemolytic anemia, Abnormality of chromosome stability, Autoimmune hemolytic anemia, Acute leukemi... ORPHA:647
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Thyroid lymphangiectasia, Cryptorchidism, Rectal prolapse, Pulmonar... OMIM:235510
Olmsted Syndrome 1
Subungual hyperkeratosis, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair, Alope... OMIM:614594
Gapo Syndrome
Hepatomegaly, Alopecia, Sparse eyelashes, Facial palsy, Sparse eyebrow, High, narrow palate, Hypo... OMIM:230740
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Sparse scalp hair, Splenomegaly, Aplasia of the sweat glands, Sparse hair, Recurren... OMIM:612132
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Multiple joint contractures, Nail dystrophy ORPHA:100976
Noonan Syndrome 14
Curly hair, Sparse eyebrow, High, narrow palate, Cryptorchidism, Low posterior hairline, Sparse h... OMIM:619745
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Neoplasm of the breast,... ORPHA:79474
Short Syndrome
Inguinal hernia, Alopecia, Diabetes mellitus, Abnormal dental enamel morphology, Lipodystrophy, S... ORPHA:3163
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Hypertrichotic hyperpigmente... OMIM:602782
Squalene Synthase Deficiency
Bilateral cryptorchidism, Elbow flexion contracture, Abnormality of hair pigmentation, Knee flexi... OMIM:618156
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Spars... OMIM:129900
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair, Reduced circulating growth hormone concentration, Eosinophilic infiltration of the e... OMIM:615508
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Esophageal var... ORPHA:309854
Congenital Disorder Of Glycosylation, Type Iia
Thick eyebrow, Protruding tongue, Unsteady gait, Midfrontal capillary hemangioma, Long eyelashes,... OMIM:212066
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... OMIM:233710
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Neoplasm of the lung, Melanoma, Neoplasm of the skin, S... ORPHA:659
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of hair texture, High, n... ORPHA:96169
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Splenomegaly, Intestinal malrotation ORPHA:3035
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia, Hypothyroidism OMIM:617763
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Generalized hyperpigmentation, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Abnormal... ORPHA:1071
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy... OMIM:603903
Muenke Syndrome
High, narrow palate, Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Chromosome 19Q13.11 Deletion Syndrome, Distal
Reduced subcutaneous adipose tissue, Inguinal hernia, Sparse eyelashes, Sparse eyebrow, Cryptorch... OMIM:613026
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Broad-based gait, Brittle hair, Submucous cleft hard palate, Flexion contracture, Fine hair, Dysd... OMIM:618891
Congenital Erythropoietic Porphyria
Facial hypertrichosis, Hemolytic anemia, Reticulocytosis, Hyperpigmentation of the skin, Scarring... ORPHA:79277
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Smoot... OMIM:257980
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Cellulitis, Lympha... OMIM:306400
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Craniolenticulosutural Dysplasia
Brittle hair, Abnormality of skin pigmentation, Coarse hair, High palate, Capillary hemangioma, S... ORPHA:50814
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Streak ovary, Hypergonadotropic hypogonadism, Sparse facia... ORPHA:2232
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability, Anemia, Neutropenia ORPHA:175
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy, Ge... OMIM:619183
Isolated Biliary Atresia
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Ophthalmoplegia, Cholestasis, Acholic ... ORPHA:30391
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Precocious puberty, ... ORPHA:398079
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Myelodysplasia, Portal hypertension, Portal... ORPHA:729
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... OMIM:233690
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Splenomegaly, Cryptorchidism, Hepatosple... OMIM:613563
Metachromatic Leukodystrophy
Ataxia, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology... ORPHA:512
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Inguinal hernia, Cryptorchidism, Loose anagen hair, High palate, L... OMIM:607721
Olmsted Syndrome 2
Sparse hair, Woolly hair, Flexion contracture of digit, Alopecia universalis OMIM:619208
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculitis-like T-cell... OMIM:618398
De Barsy Syndrome
Inguinal hernia, Lipodystrophy, Cryptorchidism, Athetosis, Progressive cerebellar ataxia, High pa... ORPHA:2962
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Sparse hair, Cafe-au-lait spot, Hypothyroi... OMIM:614114
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Respiratory insufficiency, Cleft palate, Atrophic scars, Sparse hair, Joint contracture OMIM:615349
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorchidism, Sparse eyebrow, Low an... OMIM:608156
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, High, narrow palate, Cryptorchidism, Recurre... OMIM:234100
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Sinusitis, Lipodystrophy, Splenomegaly, Thrombocytopenia, Flexion contracture, Lymp... OMIM:617591
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Basal cell carcinoma, Squamous cell carcinom... ORPHA:79431
Costello Syndrome
Deep-set nails, Curly hair, Thin nail, Rhabdomyosarcoma, Concave nail, Pyloric stenosis, Achilles... OMIM:218040
White-Sutton Syndrome
Waddling gait, Congenital diaphragmatic hernia, Cleft palate, Gastroesophageal reflux, High palat... OMIM:616364
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Craniolenticulosutural Dysplasia
Brittle hair, Cryptorchidism, Cleft palate, Coarse hair, Forehead hyperpigmentation, Gastroesopha... OMIM:607812
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Microcytic anemia, Adipose tissue loss, Elevated circulating thyroid-stimulating ho... OMIM:256040
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Brittle hair, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic ... OMIM:616084
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Freckling, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Low posterior ha... OMIM:617506
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Cerebrooculofacioskeletal Syndrome 2
Sparse hair, Camptodactyly of finger OMIM:610756
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... OMIM:208540
Brittle Cornea Syndrome
Abnormality of hair pigmentation, Corneal scarring, Cleft palate, Gait disturbance, Hernia, Campt... ORPHA:90354
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Hamartomatous stomach polyps, M... OMIM:109400
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypopigmentation of hair, Precocious puberty, Cryptorchidism, Flexion contrac... ORPHA:398069
Hennekam Syndrome
Benign neoplasm of the central nervous system, Lymphopenia, Camptodactyly of finger, Sparse axill... ORPHA:2136
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Ataxia, Oral-pharyngeal dysphagia, High, narrow palate, Synophrys, Gait disturbance, Gastroesopha... OMIM:300966
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Ataxia, Abnormal hair morphology, Sp... OMIM:133540
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Unilateral Polymicrogyria
Poor head control, Apnea, Epistaxis, Pseudobulbar paralysis, Abnormal posturing ORPHA:268943
Caroli Disease
Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Scarf Syndrome
Inguinal hernia, Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nippl... OMIM:312830
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Inguinal hernia, Ataxia, Cryptorchidism, Ocular albinism, Athetosis, An... ORPHA:2719
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Fragile nails, Cirrhosis OMIM:242150
Nmda Receptor Encephalitis
Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Choreoathetosis... ORPHA:217253
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair, Cerebral cavernous malformation OMIM:619910
Ectodermal Dysplasia-Skin Fragility Syndrome
Scarring, Abnormal tongue morphology, Recurrent pneumonia, Anoperineal fistula, Difficulty walkin... ORPHA:158668
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad-based gait, Cryptorchidism, Cleft palate, Fine hair, High palate, Sparse hair, Decreased te... ORPHA:251028
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Broad-based gait, Inguinal hernia, Highly arched eyebrow, Cleft palate, Gait ataxia... OMIM:280000
Kikuchi-Fujimoto Disease
Abnormality of the gastrointestinal tract, Hepatomegaly, Alopecia, Generalized lymphadenopathy, A... ORPHA:50918
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Brittle hair, Absent nipple, Absent hair OMIM:614940
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarcinoma of ... ORPHA:171
Stuve-Wiedemann Syndrome 1
Apnea, Elbow flexion contracture, Respiratory insufficiency, Knee flexion contracture, Contractur... OMIM:601559
Tarp Syndrome
Broad-based gait, Extramedullary hematopoiesis, Apnea, Abnormal hair pattern, Cryptorchidism, Cle... ORPHA:2886
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Agra... OMIM:301078
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
Kaufman Oculocerebrofacial Syndrome
Neonatal respiratory distress, Intestinal malrotation, Sparse eyebrow, High palate, Sparse hair OMIM:244450
Leprosy
Absent eyebrow, Alopecia, Epistaxis, Abnormality of the spleen, Testicular mass, Loss of eyelashe... ORPHA:548
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thyroid hypoplasia, Absent nipple, Aplasia of the thymus, Facial palsy, Sparse eyebrow, Congenita... OMIM:620186
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Inguinal hernia, High, narrow palate, Cryptorchidism... OMIM:601358
Ifap Syndrome 2
Sparse hair, Nail dystrophy, Atrichia OMIM:619016
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Ataxia, Abnormal dental enamel morphology, Hamartoma of tongue, Pancreati... ORPHA:2750
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse hair, Periorbital hyperpigmentation, Sparse eyelashes, Sparse eyebrow OMIM:224900
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Hypopigmentation of hair, Diabetes mellitus, Hypogonadotropic hypogonadism, Anteri... ORPHA:98754
Lamellar Ichthyosis
Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Orofaciodigital Syndrome I
Dry hair, Alopecia, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, Lobulate... OMIM:311200
Osteogenesis Imperfecta, Type Xx
Highly arched eyebrow, Narrow palate, High palate, Sparse hair, Sparse lateral eyebrow OMIM:618644
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... OMIM:102700
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Hypopigmentation of hair, Diabetes mellitus, Hypogonadotropic hypogonadism, Anteri... ORPHA:98793
Oculodentodigital Dysplasia
Dry hair, Ataxia, Slow-growing hair, Cleft palate, Fine hair, High palate, Joint contracture of t... OMIM:164200
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow OMIM:609460
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Hypopigmentation of hair, Diabetes mellitus, Hypogonadotropic hypogonadism, Anteri... ORPHA:177904
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Abnormality of chromosome stability, Thrombocytopenia... ORPHA:84
Cranioectodermal Dysplasia 2
Hepatomegaly, Inguinal hernia, Sparse eyelashes, Cholangitis, Sparse eyebrow, Splenomegaly, Recur... OMIM:613610
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Hypopigmentation of hair, Diabetes mellitus, Hypogonadotropic hypogonadism, Anteri... ORPHA:177901
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow OMIM:190351
Weaver Syndrome
Deep-set nails, Inguinal hernia, Thin nail, Cryptorchidism, Melanocytic nevus, Hydrocele testis, ... OMIM:277590
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Sparse hair OMIM:613451
Marshall Syndrome
Sparse eyelashes, Sparse eyebrow, Cleft palate, High palate, Sparse hair ORPHA:560
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Sparse hair, Alopecia, Abnormal toenail morphology, Abnormal dental enamel morphology ORPHA:1005
Hepatoerythropoietic Porphyria
Facial hypertrichosis, Hemolytic anemia, Scarring, Splenomegaly, Scarring alopecia of scalp, Loss... ORPHA:95159
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomega... OMIM:610199
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Waddling gait, Diabetes mellitus, Oligozoospermia, Small nail, Nail dysplasia, Sparse hair, Breas... OMIM:614813
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Kid Syndrome
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Squamous cell carcinoma, Knee flexi... ORPHA:477
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Elevated he... OMIM:269700
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath... OMIM:181000
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Fine hair ORPHA:1806
Brittle Cornea Syndrome 1
Red hair, Dentinogenesis imperfecta, Atypical scarring of skin OMIM:229200
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Cardiac myxoma, Fine hair, Multiple lipomas, Patchy alop... OMIM:181270
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Broad-based gait, Abnormality of the spleen, Sple... ORPHA:2072
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodys... OMIM:608594
Teebi-Shaltout Syndrome
Slow-growing hair, Highly arched eyebrow, High, narrow palate, Low anterior hairline, Cleft palat... OMIM:272950
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Gaisböck Syndrome
Diabetes mellitus, Peptic ulcer, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin con... ORPHA:90041
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... ORPHA:1010
Focal Dermal Hypoplasia
Ridged nail, Linear hyperpigmentation, Brittle hair, Congenital diaphragmatic hernia, Anteriorly ... OMIM:305600
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Splenomegaly, Pancreatic cysts, Esophageal varix,... OMIM:263200
Malakoplakia
Follicular hyperplasia, Orchitis, Cough, Neoplasm of the rectum, Prostate neoplasm, Neoplasm of t... ORPHA:556
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased serum insulin-like growth factor 1, Respiratory failure requiring assiste... ORPHA:77293
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline, Cafe-au-lait spot OMIM:250410
Prader-Willi Syndrome
Hypoventilation, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to g... OMIM:176270
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing entero... OMIM:619991
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Anterior pituitary hypoplasia, Cryptorchidism, Elbow flexion contracture, Cleft ... OMIM:151050
Cranioectodermal Dysplasia 1
Hepatomegaly, Inguinal hernia, Slow-growing hair, Thin nail, Malformation of the hepatic ductal p... OMIM:218330
Multiple Myeloma
Splenomegaly, Generalized muscle weakness, Functional abnormality of the gastrointestinal tract, ... ORPHA:29073
Branchiooculofacial Syndrome
Facial palsy, Supernumerary nipple, Malrotation of colon, Pyloric stenosis, Cryptorchidism, Elbow... OMIM:113620
Prader-Willi Syndrome
Hypopigmentation of hair, Diabetes mellitus, Decreased response to growth hormone stimulation tes... ORPHA:739
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response... ORPHA:177907
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Elevated hemoglobin A1c, Sparse eyebrow, Flexion contracture, Generalized lipodystr... OMIM:619127
Naxos Disease
Subungual hyperkeratosis, Curly hair, Cardiomegaly, Sparse eyebrow, Onycholysis, Nail dystrophy, ... OMIM:601214
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... OMIM:241080
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse hair, Patchy alopecia, Sparse eyelashes, Sparse eyebrow OMIM:302960
Roberts Syndrome
Progressive flexion contractures, Cryptorchidism, Cleft palate, Knee flexion contracture, High pa... ORPHA:3103
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Elevated circulating thyroid-stimulating hormone concentration, Sparse hair, Keloids... OMIM:601812
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Sparse eyelashes, Fine hair OMIM:257850
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Phosphoribosylpyrophosphate Synthetase Superactivity
Sparse hair, Cryptorchidism, High palate, Ataxia OMIM:300661
Ablepharon Macrostomia Syndrome
Omphalocele, Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Absent eyelashes, Fi... ORPHA:920
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Omphalocele, Neonatal respiratory distress, Intestinal malrotation, Asplenia, Esophageal atresia,... OMIM:265380
Myhre Syndrome
Ataxia, Cryptorchidism, Respiratory insufficiency, Cleft palate, Fine hair, Respiratory failure, ... OMIM:139210
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Paralytic ileus, Melena, Pancreatic isle... OMIM:276700
Intellectual Developmental Disorder, Autosomal Dominant 68
Gastroesophageal reflux, High palate, Joint contracture of the 5th finger, Sparse hair, Hepatic s... OMIM:619934
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Foot joint contracture, Sparse eyebrow, Cryptorchidism, Fine hair, Sparse hair ORPHA:444072
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Anorectal anomaly, Hypopigmented skin pat... ORPHA:233
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Absent eyebrow, Alopecia, Thin fingernail, Aganglionic megacolon, Abnormal dental en... ORPHA:2273
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Hematochezia, Pro... OMIM:618183
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Cranioectodermal Dysplasia 3
Short nail, Broad nail, Fine hair, Cirrhosis, Sparse hair OMIM:614099
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Sparse axillary h... ORPHA:90796
Chime Syndrome
Sparse hair, Fine hair, Cleft palate, Acute leukemia ORPHA:3474
Trichorhinophalangeal Syndrome, Type Ii
Osteochondroma, Chronic gastritis, Sparse scalp hair, Inguinal hernia, Bilateral cryptorchidism, ... OMIM:150230
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse scalp hair, Anterior pituitary hypoplasia, Epistaxis, Highly arched eyebrow, Sparse eyebro... OMIM:619841
Plague
Respiratory distress, Hepatomegaly, Hematemesis, Lymphadenitis, Splenomegaly, Unsteady gait, Ente... ORPHA:707
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Hip contracture, Coarse hair, Knee flexion contracture OMIM:118650
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Aganglionic megacolon, Abnormal dental enamel morphology, Congenital di... ORPHA:818
Restrictive Dermopathy
Multiple joint contractures, Short nail, Camptodactyly of finger, Sparse eyebrow, Aplasia/Hypopla... ORPHA:1662
Ablepharon-Macrostomia Syndrome
Ventral hernia, Absent eyebrow, Omphalocele, Absent eyelashes, Anteriorly placed anus, Hypoplasti... OMIM:200110
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Cryptorchidism, Dyspnea, Submucous cleft hard palate, Loss of eyelashes, Cleft palate, ... ORPHA:2636
Cystinosis, Nephropathic
Hepatomegaly, Hypopigmentation of hair, Diabetes mellitus, Oral-pharyngeal dysphagia, Splenomegal... OMIM:219800
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Sparse hair, Hepatic steatosis,... ORPHA:3455
Meningioma
Chromosomal breakage induced by ionizing radiation ORPHA:2495
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Hip contracture, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... OMIM:210710
Renpenning Syndrome 1
Brittle hair, Cleft palate, High palate, Camptodactyly, Sparse hair, Joint contracture of the han... OMIM:309500
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Widow's peak, Coarse hair, High palate ORPHA:1974
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Rectal prolapse, Pseudohypoparathyroidism, Gastroesophageal reflux, High palate, Sparse hair, Fro... OMIM:617157
Fraser Syndrome 1
Abnormal small intestine morphology, Absent eyebrow, Absent eyelashes, Cryptorchidism, Extension ... OMIM:219000
Wrinkly Skin Syndrome
Inguinal hernia, Lipodystrophy, Cryptorchidism, Progressive cerebellar ataxia, High palate, Spars... ORPHA:2834
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Aplasia of the eccrine sweat glands OMIM:300291
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Hyperpigmented streaks, Anteriorly placed a... OMIM:601803
Johanson-Blizzard Syndrome
Anteriorly placed anus, Hepatic fibrosis, Hypothyroidism, Abnormality of the nail, Hepatomegaly, ... OMIM:243800
Hawkinsinuria
Sparse hair OMIM:140350
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys... OMIM:150400
Menke-Hennekam Syndrome 1
Inguinal hernia, Cryptorchidism, Flexion contracture, Cleft palate, Gastroesophageal reflux, High... OMIM:618332
Scalp-Ear-Nipple Syndrome
Type I diabetes mellitus, Breast aplasia, Abnormal fingernail morphology, Sparse hair ORPHA:2036
Wrinkly Skin Syndrome
Inguinal hernia, Short nail, Cryptorchidism, High palate, Sparse hair, Umbilical hernia, Fragile ... OMIM:278250
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ankle flexion contracture, Cryptorchidism, Cavernous hemangioma of the face, Bi... OMIM:268300
Primrose Syndrome
Sparse scalp hair, Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Ataxia, Ab... OMIM:259050
Neurocardiofaciodigital Syndrome
Sparse hair, High palate, Sparse eyebrow OMIM:619869
Deafness, Autosomal Dominant 70
OMIM:616968

Histopathology

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

There is no histopathology data for Mcm2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mcm2.

No publications found that use IMPC mice or data for Mcm2.

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MGI Allele Allele Type Produced
Mcm2tm295427(L1L2_gt2_Del_LacZ) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mcm2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mcm2tm295427(pL1L2_frt15_BetactinBSD_frt14_neo_Rox) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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