Not currently registered for phenotyping at IMPC

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

Gene Summary

minichromosome maintenance complex component 2
Mcmd2,  BM28,  CDCL1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mcm2 mutations

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

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

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

Disease Similarity of
Matching phenotypes Source
Deafness, Autosomal Dominant 70

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

Disease Similarity of
Matching phenotypes Source
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Stomach cancer, Furrowed tongue, Intestinal polyposis, Generalized hyperp... ORPHA:2930
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia, Abnormality of chromosome stability OMIM:614082
Good Syndrome
Abnormal leukocyte morphology, Thymoma, Bronchiectasis, Sinusitis, Anemia, Fatigable weakness, Me... ORPHA:169105
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia OMIM:600546
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma OMIM:135290
Birt-Hogg-Dube Syndrome
Fibrofolliculoma, Renal neoplasm, Large intestinal polyposis, Multiple lipomas, Sebaceous hyperpl... OMIM:135150
Mismatch Repair Cancer Syndrome 4
Adenomatous colonic polyposis, Non-Hodgkin lymphoma, Colon cancer, Glioblastoma multiforme, Multi... OMIM:619101
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Alopecia,... OMIM:269200
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis ORPHA:401911
Polyposis Syndrome, Hereditary Mixed, 2
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... OMIM:610069
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Myasthenia Gravis
Thymoma, Abnormality of the endocrine system, Fatigable weakness, Limb muscle weakness, Proximal ... OMIM:254200
Autoimmune Polyendocrinopathy Type 4
Thymoma, Alopecia, Hypergonadotropic hypogonadism, Leukopenia, Xerostomia, Autoimmune thrombocyto... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Thymoma, Graves disease, Alopecia, Hypergonadotropic hypogonadism, Leukopenia, Xerostomia, Autoim... ORPHA:227982
Multiple Endocrine Neoplasia Type 4
Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... ORPHA:157798
Alpha-Heavy Chain Disease
Malabsorption, Hepatomegaly, Splenomegaly, Alopecia, Lymphoma, Abnormality of the small intestine... ORPHA:100025
Hypotrichosis 1
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... OMIM:605389
Immunodeficiency 31C
Lymphopenia, Hypothyroidism, Villous atrophy, Delayed puberty, Diabetes mellitus, Autoimmune hemo... OMIM:614162
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Addison Disease
Thymoma, Decreased circulating cortisol level, Increased circulating renin level, Androgen insuff... ORPHA:85138
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Malabsorption, Alopecia, Xerostomia, Hematochezia, Glossitis, Protein-losing ente... OMIM:175500
Thymoma, Familial
Thymoma, Neoplasm, Respiratory insufficiency OMIM:274230
Trichohepatoenteric Syndrome 2
Colitis, Woolly hair, Sparse hair, Brittle hair, Hepatomegaly, Cirrhosis, Chronic hepatitis, Tric... OMIM:614602
Multiple Endocrine Neoplasia Type 1
Thymoma, Increased serum serotonin, Pituitary growth hormone cell adenoma, Melena, Intestinal car... ORPHA:652
Netherton Syndrome
Sparse scalp hair, Asthma, Intestinal atresia, Brittle hair, Sparse eyebrow, Brittle scalp hair, ... OMIM:256500
Neoplasm of the adrenal gland, Central hypoventilation, Abnormality of the adrenal glands, Multip... ORPHA:251992
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
N Syndrome
Leukemia, Abnormality of chromosome stability OMIM:310465
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents, Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Desmoid Tumor
Malabsorption, Abnormality of retinal pigmentation, Desmoid tumors, Intestinal obstruction, Fibro... ORPHA:873
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Pancytopenia, Thrombocytopenia, Abnormality of chromosome stability ORPHA:859
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Asthma, Hypopigmented skin patches, Hemangioma, Intestinal polyp, Gait disturbance, Cafe-au-lait ... ORPHA:457485
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillar PAS-positive secretory granules, Microvillus inclusions, Bronchiectasis OMIM:619445
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Hereditary Mixed Polyposis Syndrome
Neoplasm of the rectum, Adenomatous colonic polyposis, Thyroid carcinoma, Prostate cancer, Hyperp... ORPHA:157794
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphoproliferative disorder, B lymphocytopenia, Type I diabetes mellitus, Pneumonia, Pancytopeni... OMIM:614700
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Recurrent tonsillitis, Hypopigmentation of the skin, ... OMIM:214450
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Cough, Dysphagia, Abnormal intes... ORPHA:70482
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Coombs-positive hemolytic anemia, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thr... OMIM:304790
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Splenomegaly, Villous atrophy, Pancytopenia, Anemia, Thrombocytopenia, Reduced nat... OMIM:616050
Myasthenia, Limb-Girdle, Autoimmune
Thymoma, Neoplasm, Fatigable weakness, Ophthalmoparesis, Hashimoto thyroiditis OMIM:159400
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Gait disturbance, Ataxia, Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Alopecia universalis, Patchy alopecia, Enlarged tonsils, Cellulitis, Hepatosplenomegaly, B lympho... OMIM:606367
Witkop Syndrome
Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail OMIM:189500
Lynch Syndrome
Neoplasm of the pancreas, Neoplasm of the rectum, Pituitary adenoma, Malabsorption, Ovarian neopl... ORPHA:144
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Hirschsprung Disease
Intestinal obstruction, Intestinal polyposis, Functional abnormality of the gastrointestinal trac... ORPHA:388
Refractory Celiac Disease
Malabsorption, Increased proportion of HLA DR+ T cells, Normocytic anemia, Lymphoma, Iron deficie... ORPHA:398063
Diarrhea 9
Villous atrophy OMIM:618168
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... ORPHA:220460
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Lymphoproliferativ... ORPHA:263665
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... ORPHA:2722
Msh3-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... ORPHA:480536
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Duodenal poly... ORPHA:329971
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... ORPHA:71505
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia OMIM:246470
Juvenile Polyposis Syndrome
Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Hematochezia, Gastro... ORPHA:2929
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Cerebellar Ataxia And Ectodermal Dysplasia
Ataxia, Sparse hair, Alopecia OMIM:212835
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Thymic Tumor
Neuroendocrine neoplasm, Fatigable weakness, Mediastinal lymphadenopathy, Neoplasm of the thymus,... ORPHA:100100
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Secondary Short Bowel Syndrome
Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dysmotility, Chol... ORPHA:95427
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm, Lipoma, Thyroid carcinoma, Uterine neoplasm, Abnormal large intestine morphology, Narro... ORPHA:109
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Sparse hair, Alopecia, Hypogonadotropic hy... OMIM:275400
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Turcot Syndrome With Polyposis
Melena, Ataxia, Hepatoblastoma, Soft tissue neoplasm, Hematochezia, Basal cell carcinoma, Intesti... ORPHA:99818
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Lymphopenia, Increased stool alpha1-antitrypsin concentration, Abnormal lymp... ORPHA:90362
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Adenomatous colonic polyposis, Fundic gland polyposis, Absent eyebrow, Breast ... OMIM:608615
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Hepat... OMIM:607624
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Thymic Carcinoma
Fatigable weakness, Mediastinal lymphadenopathy, Neoplasm of the thymus, Cough, Diaphragmatic par... ORPHA:99868
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Congenital Disorder Of Glycosylation, Type Id
Nail dysplasia, High palate, Joint contracture of the hand, Flexion contracture, Bifid uvula, Vil... OMIM:601110
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po... ORPHA:247798
Syndromic Diarrhea
Hepatomegaly, Hepatoblastoma, Gastritis, Generalized hypopigmentation, Colitis, Splenomegaly, Cir... ORPHA:84064
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Splenomegaly, Cirrhosis, Hepatocellular carci... OMIM:613490
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash m... ORPHA:1818
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Congenital Short Bowel Syndrome
Intestinal malrotation, Intestinal hypoplasia, Lipoatrophy, Sparse hair ORPHA:2301
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Mantle Cell Lymphoma
B-cell lymphoma, Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Ataxia, Irregular hyperpigmentation, Hypopigmented skin patches, Hyp... ORPHA:2885
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hyperinsulinemic hypoglycemia, Steatorrhea, Cirrhosis, Villous atrophy, Hepatic fib... OMIM:602579
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Intestinal bleeding, Uterine neoplasm, Multiple gastric polyps, Breast ... OMIM:175200
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Paronychia, Onychogryposis OMIM:614328
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... ORPHA:97289
Dystonia 31
Dysphagia, Difficulty walking, Abnormal posturing OMIM:619565
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Stomach cancer, Neoplasm of the small intestine, Rectal prolapse, Gastroi... ORPHA:2869
Familial Adenomatous Polyposis 1
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... OMIM:175100
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Cryptorchidism, Muscle weakness, Hypogonadism ORPHA:85274
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Ataxia, Sparse hair, Inguinal hernia, Gait disturbance, Fine hair, Cryptorchidism ORPHA:1174
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,... ORPHA:733
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Flexion contracture, Splenomegaly, Cough, Dysphagia, Abnormal... ORPHA:77260
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Benign Schwannoma
Abnormality of the adrenal glands, Vestibular schwannoma, Abnormal esophagus morphology, Facial p... ORPHA:252164
Mccune-Albright Syndrome
Pituitary adenoma, Precocious puberty, Elevated circulating growth hormone concentration, Hyperth... OMIM:174800
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Pili torti, Sparse hair, Reduced terminal:vellus ratio OMIM:601553
Ectodermal Dysplasia 9, Hair/Nail Type
Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail OMIM:614931
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Focal Facial Dermal Dysplasia 3, Setleis Type
Anal atresia, Low anterior hairline, Sparse hair, Distichiasis, Absent lower eyelashes OMIM:227260
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Multiple myeloma, Hemophagocytosis, T-cell lymphoma, Pancytopenia, Burkitt lymphoma, Splenomegaly... ORPHA:158057
Trichothiodystrophy 9, Nonphotosensitive
Ataxia, High, narrow palate, Sparse hair, Sparse eyebrow, Tiger tail banding, Nail dystrophy OMIM:619692
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia universalis, Sparse body hair, Abnormal eyelash morphology, Melanocyt... ORPHA:1008
Trichohepatoenteric Syndrome 1
Woolly hair, Sparse hair, Brittle hair, Hepatomegaly, Jaundice, Splenomegaly, Cirrhosis, Generali... OMIM:222470
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Sparse body hair, Hypopigmentation of the skin, Onychogryposis of toenails, Dystrophic ... OMIM:617294
Cowden Syndrome 7
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... OMIM:616858
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents, T-cell acute lymphoblastic leukemias, Acute ... OMIM:605724
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Breast carcinoma, Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Renal co... ORPHA:97290
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Sideroblastic a... OMIM:557000
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Thick eyebrow, Sparse hair, Knee flexion contracture, Widow's peak, Interphalangeal joint contrac... OMIM:606242
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, Intes... ORPHA:897
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Multiple cafe-au-lait spots, Colon cancer, Glioblastoma mul... OMIM:619096
Schopf-Schulz-Passarge Syndrome
Sparse hair, Onycholysis, Squamous cell carcinoma, Basal cell carcinoma, Ridged nail, Narrow nail... OMIM:224750
Cowden Syndrome 1
High palate, Thyroiditis, Hydrocele testis, Lymphopenia, Hyperthyroidism, Fibroadenoma of the bre... OMIM:158350
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Cholestatic liver disease, Elevated fecal osmolality, Abnormal large... ORPHA:92050
Juvenile Nasopharyngeal Angiofibroma
Juvenile nasopharyngeal angiofibroma, Epistaxis, Juvenile colonic polyposis ORPHA:289596
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Cowden Syndrome 5
High palate, Hydrocele testis, Hyperthyroidism, Breast carcinoma, Ovarian cyst, Hamartomatous pol... OMIM:615108
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Cowden Syndrome 6
High palate, Hydrocele testis, Hyperthyroidism, Fibroadenoma of the breast, Breast carcinoma, Ova... OMIM:615109
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia, Muscle weakness, Dyspnea ORPHA:228312
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Abnormality of the lymphatic system, Neoplasm of the breast, ... ORPHA:618
Mismatch Repair Cancer Syndrome 1
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... OMIM:276300
Mosaic Variegated Aneuploidy Syndrome
Apnea, Neoplasm, Duodenal atresia, Multiple cafe-au-lait spots, Cleft palate, Stomach cancer, Nep... ORPHA:1052
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Refractory anemia with ringed sideroblasts, Splenomegaly, Thrombocytopenia, Anemia,... OMIM:133180
Immunodeficiency 104
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, T lymphocytopenia, Pneumonia, Lymphadenopathy OMIM:608971
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... ORPHA:79076
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Villous atrophy, Decreased proportion of CD4-positive helper T ce... OMIM:619510
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Gastroesophageal reflux, Inguinal hernia, Tachypnea, Pulmonary arterial hypertension, Neutropenia... OMIM:614857
Hodgkin Lymphoma
Neoplasm, Ataxia, Hepatomegaly, Splenomegaly, Lymphoma, Cough, Dyspnea, Lymphadenopathy ORPHA:98293
Griscelli Syndrome
Abnormal eyebrow morphology, Ataxia, Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Si... ORPHA:381
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... ORPHA:454840
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Adenomatous colonic polyposis, High palate, Airway obstruction, Intestinal bleeding, Hepatoblasto... ORPHA:261584
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Malabsorption, Villous atrophy OMIM:600955
Osteootohepatoenteric Syndrome
Asthma, Microvesicular hepatic steatosis, Ileoileal intussusception, Cholestasis, Villous atrophy... OMIM:619377
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Abnormality of the endocrine system, Neutropenia in presence of anti-neutropil an... ORPHA:391487
Bare Lymphocyte Syndrome, Type Ii
Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Villous atrophy, Cholangitis,... OMIM:209920
Cholelithiasis, Hepatomegaly, Adrenocortical adenoma, Intestinal carcinoid, Neoplasm of the small... ORPHA:97261
Focal Facial Dermal Dysplasia Type I
Spotty hyperpigmentation, Low anterior hairline, Sparse hair, Distichiasis, Absent eyelashes, Atr... ORPHA:79133
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Cirrhosis, Pulmonary embolism, Cholecystitis, Microcytic anemia, Intestinal polyp... ORPHA:774
Cowden Syndrome
High palate, Ataxia, Furrowed tongue, Enlarged polycystic ovaries, Meningioma, Neoplasm of the th... ORPHA:201
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis OMIM:266140
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Anonychia, Enamel hypoplasia, Abnormality of skin pigmentation, Nail dystrophy,... ORPHA:79402
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Hepatomegaly, Flexion contracture, Steatorrhea, Hypergonadotropic hypogonadism, Dysmetria... OMIM:212065
Dyskeratosis Congenita, Autosomal Dominant 1
Premature graying of hair, Ataxia, Lymphopenia, Sparse hair, Reticular hyperpigmentation, Alopeci... OMIM:127550
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Generalized hirsutism, Neoplasm, Ovarian neoplasm, Macroglossia, Hyp... ORPHA:2221
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Azoospermia, Splenomegaly, Poikiloc... OMIM:615234
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Chronic lung disease, Papi... ORPHA:319487
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Ataxia, Inability to walk, Gastroesophageal reflux, Central sleep apnea, Hypopigmentation of hair... ORPHA:70472
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Ony... ORPHA:1808
Neoplasm, Type II diabetes mellitus, Lymphopenia, Multiple cafe-au-lait spots, Ataxia, Hypopigmen... ORPHA:100
Immunodeficiency 76
B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurr... OMIM:619164
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Sparse hair, Alopecia, Onychogryposis of fingernail, Camptodactyly of finger, Fingernail dysplasi... ORPHA:2251
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia iridis, White forelock, Prema... ORPHA:895
Immunodeficiency 54
Reduced natural killer cell count, Chromosome breakage, Splenomegaly OMIM:609981
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Pili torti, Sparse hair, Sparse eyebrow, Exostoses, Coarse hair, Sparse or abs... ORPHA:113
Cartilage-Hair Hypoplasia
Malabsorption, Fair hair, Sparse hair, Sparse eyebrow, Sparse eyelashes, Lymphopenia, Sparse faci... OMIM:250250
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Dyspnea, Thrombocyt... ORPHA:231401
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Increased mitochondrial number, Bradykinesia OMIM:619063
Classic Mycosis Fungoides
Cutaneous T-cell lymphoma, Hepatomegaly, Irregular hyperpigmentation, Splenomegaly, Alopecia, Lym... ORPHA:2584
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Ataxia, Heterochromia iridis, Hypopigmented skin patches, Hypopigmentation of hair, White eyebrow... ORPHA:2884
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Gist-Plus Syndrome
Intestinal polyposis, Intussusception, Gastrointestinal stroma tumor OMIM:175510
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Meckel diverticulum OMIM:300864
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Hepatomegaly, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Splenomegaly... ORPHA:59303
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Sparse hair, Supernumerary nipple, Sparse or absent eyelashe... ORPHA:1433
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair OMIM:616760
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Renal cell carcinoma, Neopl... OMIM:114500
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Waardenburg Syndrome, Type 4A
Ataxia, Hypopigmented skin patches, Blue irides, White eyebrow, White eyelashes, Heterochromia ir... OMIM:277580
X-Linked Sideroblastic Anemia
Splenomegaly, Hyperpigmentation of the skin, Muscle weakness, Dyspnea, Anemia ORPHA:75563
Immunodeficiency 84
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, Wh... OMIM:613265
Rothmund-Thomson Syndrome, Type 1
Sparse hair, Absent eyebrow, Hypothyroidism, Absent eyelashes, Nail dystrophy, Male hypogonadism,... OMIM:618625
Fanconi Anemia, Complementation Group S
Anemia, Chromosome breakage OMIM:617883
Chediak-Higashi Syndrome
Ataxia, Hepatomegaly, Hemophagocytosis, Jaundice, Lymphadenopathy, Splenomegaly, Abnormal dense g... OMIM:214500
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Tip-toe gait, Aspiration pneumonia, Pigmentary retinopathy, Cough, Gait distur... ORPHA:216866
Vascular Hyalinosis
Malabsorption, Hematochezia, Chorioretinal scar, Protein-losing enteropathy, Premature graying of... OMIM:277175
Aicardi Syndrome
Malabsorption, Precocious puberty, Hiatus hernia, Hepatoblastoma, Cleft palate, Gastroesophageal ... ORPHA:50
Focal Facial Dermal Dysplasia Type Iii
Anal atresia, Hypopigmented skin patches, Sparse hair, Abnormal hair pattern, Sparse lower eyelas... ORPHA:1807
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morp... ORPHA:2585
Trichothiodystrophy 1, Photosensitive
Pili torti, Asthma, Malabsorption, Sparse hair, Brittle hair, Tiger tail banding, Flexion contrac... OMIM:601675
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent sinusitis, Anemia, Thrombo... OMIM:613101
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... ORPHA:3361
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Irregular hyperpigmentation, ... ORPHA:44890
Ectodermal Dysplasia 4, Hair/Nail Type
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... OMIM:602032
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Squamous cell carcino... ORPHA:50944
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia, Abnormality of chromosome stability ORPHA:2268
Hypotrichosis 7
Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse axillary hair, Sparse eyelashes... OMIM:604379
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Cleft palate, Cervical lymphadenopathy, Cholestasis, Jaundice, Necrotizing enteroco... OMIM:619573
Neuroectodermal Melanolysosomal Disease
Ataxia, Hypopigmentation of the skin, Hypopigmentation of hair, Generalized hyperpigmentation, Pr... ORPHA:33445
Progressive Familial Intrahepatic Cholestasis
Neoplasm, Malabsorption, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hodgkin lymphoma, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromb... OMIM:619375
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Villous atrophy, Hepatic fibrosis, Portal ... ORPHA:567983
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Congenital Bile Acid Synthesis Defect Type 1
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Gastrointestinal... ORPHA:79301
Nail dysplasia, Sparse scalp hair, Sparse axillary hair, Sparse eyelashes, Fragile nails, Sparse ... OMIM:257960
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis OMIM:301083
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Myelodysplasia, Microcytic a... ORPHA:846
Eosinophilic Gastroenteritis
Asthma, Malabsorption, Leukocytosis, Steatorrhea, Eosinophilia, Abnormality of the gastrointestin... ORPHA:2070
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, Follicular hyperplasia, ... OMIM:614470
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, G... OMIM:612526
Polymerase Proofreading-Related Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... ORPHA:447877
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Hodgkin lymphoma, B-cell lymphoma, Splenomegaly, Lymphoproliferative disorder, Mediastinal lympha... OMIM:300853
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Protein-losing enteropathy, Recurrent pneumonia, Neutropenia, Abnormal T cell ... OMIM:613502
Bazex Syndrome
Pili torti, Sparse hair, Coarse hair, Trichorrhexis nodosa, Basal cell carcinoma, Furrowed tongue... OMIM:301845
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Immunodeficiency 16
Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Adenomatous colonic polyposis, Hereditary nonpolyposis colorectal carcinoma, Colon cancer, Endome... OMIM:613244
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... ORPHA:2890
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Cleft palate, Enlarged kidney, U... ORPHA:116
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71526
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Decreased DLCO, Dyspnea, An... OMIM:607616
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... ORPHA:573
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Alo... OMIM:615559
Coproporphyria, Hereditary
Hepatomegaly, Respiratory paralysis, Splenomegaly, Increased fecal coproporphyrin 3, Jaundice OMIM:121300
Coffin-Siris Syndrome 3
Sparse scalp hair, Hirsutism, Hypertrichosis, Thick eyebrow, Sparse hair, Macroglossia, Long eyel... OMIM:614608
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Asthma, Hepatomegaly, Splenom... OMIM:612714
Crandall Syndrome
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hai... ORPHA:202
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Absent facial hair, Sparse facial hair, Abnormality of the hypothalamus-pitu... ORPHA:2183
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Sparse hair, Intestinal atresia, Intestinal malrotation, Hypoplasia of the thymus... ORPHA:436252
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Bannayan-Riley-Ruvalcaba syndrome
High palate, Lipoma, Supernumerary nipple, Intussusception, Hemangioma, Multiple lipomas, Hematoc... OMIM:153480
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Asthma, Hypertrichosis, Hypoplasia of the ovary, Hepatomegaly, Periportal fibrosis, Gastroesophag... ORPHA:79328
Adenomatous colonic polyposis, Ataxia, Medulloblastoma, Neuroblastoma, Progressive cerebellar ata... ORPHA:616
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea, Sparse hair, Abnormal hair whorl, High, narrow palate, Bifid uvula, Umbilical... ORPHA:2872
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, R... ORPHA:848
Sialidosis Type 2
Ataxia, Hepatomegaly, Flexion contracture, Splenomegaly, Inguinal hernia, Muscle weakness, Umbili... ORPHA:87876
Xq27.3Q28 Duplication Syndrome
Sparse body hair, Cryptorchidism, Decreased testicular size, Hypogonadism ORPHA:261483
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, B-cell lymphoma, Colitis, Gastritis, Crohn's disease, Sple... OMIM:619381
Griscelli Syndrome Type 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Pancytopenia, Partial alb... ORPHA:79477
Dyskeratosis Congenita
Hepatomegaly, Sparse hair, Alopecia, Tracheoesophageal fistula, Bone marrow hypocellularity, Anor... ORPHA:1775
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Sparse eyelashes OMIM:616901
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism, Sparse hair, Alopecia OMIM:617763
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism, High, narrow palate, Sparse hair, Umbilical hernia OMIM:273390
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Absent axillary hair, Thrombocytopenia OMIM:269600
Nodular Lymphocyte Predominant Hodgkin Lymphoma
B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphoma, Lymphadenopathy ORPHA:86893
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly OMIM:602079
Nicolaides-Baraitser Syndrome
Sparse hair, High, narrow palate, Alopecia, Abnormal hair pattern, Curly eyelashes, Long eyelashe... ORPHA:3051
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Papilloma, Neoplasm of the liver, Anal canal squamous cell carcinoma, Int... ORPHA:424019
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Necrotizing enterocolitis, Intestinal ... OMIM:619350
Sandifer Syndrome
Gastroesophageal reflux, Hiatus hernia, Hematemesis, Esophagitis, Anemia, Abnormal posturing ORPHA:71272
Generalized hypotrichosis OMIM:207780
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Renal neopla... ORPHA:587
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Tooth Agenesis, Selective, 8
Sparse hair, Sparse eyebrow OMIM:617073
Waardenburg Syndrome Type 1
Thick eyebrow, Hypopigmented skin patches, Cleft palate, Hypopigmentation of hair, White eyebrow,... ORPHA:894
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Abnormal leukocyte morphology, Neoplasm, Ataxia, Anemia, Generalized hyperpigm... ORPHA:3322
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... ORPHA:99889
Moynahan Syndrome
Hypogonadism, Sparse hair, Alopecia ORPHA:2574
Trigonocephaly 1
Meckel diverticulum, Synophrys, Omphalocele OMIM:190440
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse hair, Sparse eyebrow, Sparse eyelashes, Ridged nail, Fine hair, Slow-growing hair OMIM:129490
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Inflammation of the large... OMIM:300635
Blepharocheilodontic Syndrome 1
Anal atresia, Sparse hair, Distichiasis, High anterior hairline, Small nail OMIM:119580
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Alopecia, Cirrhosis, Hypogonadotropic hypogonadis... OMIM:235200
Mandibuloacral Dysplasia
High palate, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Sparse hair... ORPHA:2457
Gaucher Disease, Type Ii
Apnea, Hepatomegaly, Splenomegaly, Recurrent aspiration pneumonia, Dysphagia, Anemia, Thrombocyto... OMIM:230900
Hidrotic Ectodermal Dysplasia, Halal Type
Nail dysplasia, Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Sparse body hair, Abnorm... ORPHA:1809
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Lipoatrophy, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Hypopigmentati... ORPHA:261304
Cardiofaciocutaneous Syndrome 2
High palate, Sparse hair, Absent eyebrow, Fine hair, Curly hair OMIM:615278
Pten Hamartoma Tumor Syndrome
Papilloma, Neoplasm, Lipoma, Thyroid carcinoma, Breast carcinoma, Hemangioma, Endometrial carcino... ORPHA:306498
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Fle... ORPHA:801
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy OMIM:158000
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Tracheoesophageal fistula, Furrowed tongue, Fine hair, Anorectal anomaly ORPHA:1839
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... ORPHA:276399
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Gastroesophageal reflux, Hepatomegaly, Chronic pulmonary obstruction, Splen... ORPHA:2414
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Wolman Disease
Adrenal insufficiency, Hepatomegaly, Splenomegaly, Adrenal calcification, Steatorrhea, Esophageal... ORPHA:75233
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Infantile Sialic Acid Storage Disease
High palate, Fair hair, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly, Hypopigmentation of t... OMIM:269920
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Trichoodontoonychial Dysplasia With Bone Deficiency
Nail dysplasia, Sparse hair, Supernumerary nipple, Enamel hypoplasia, Nail dystrophy, Melanocytic... OMIM:275450
10Q22.3Q23.3 Microdeletion Syndrome
Breast aplasia, Intestinal polyposis ORPHA:276413
Cholestasis-Lymphedema Syndrome
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice OMIM:214900
Classic Hodgkin Lymphoma
Neoplasm, Ataxia, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Lymphoma, Cough, Bone ma... ORPHA:391
Inflammatory Bowel Disease (Crohn Disease) 30
Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int... OMIM:619079
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Pfapa Syndrome
Malabsorption, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lac... ORPHA:103907
Gray Platelet Syndrome
Myelodysplasia, Thrombocytopenia, Epistaxis, Splenomegaly ORPHA:721
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Esophageal varix, Portal hypertension, Splenomegaly OMIM:617068
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Flexion contracture, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eye... ORPHA:2850
Trichodental Dysplasia
Sparse hair, Brittle hair, Fine hair, Odontodysplasia, Slow-growing hair OMIM:601453
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Generalized hirsutism, Thick eyebrow, Sparse hair, Brittle h... ORPHA:2963
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Abnormality of the lymphatic system, Bil... ORPHA:1414
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Chromosome breakage, Abnormality of chromosome stability OMIM:208910
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Mohr-Tranebjaerg Syndrome
Dysphagia, Abnormal posturing OMIM:304700
Elejalde Neuroectodermal Melanolysosomal Syndrome
Ataxia, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hai... OMIM:256710
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Hirsutism, Poor head control, Inability to walk, Sparse hair, Ataxia, Dysmetria OMIM:618087
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Neoplasm of the rectum, Neoplasm of the colon, Pituitary adenoma, Neuro... ORPHA:440437
Bloom Syndrome
Recurrent gastroenteritis, Abnormal proportion of CD8-positive T cells, Stomach cancer, Pneumonia... ORPHA:125
Braddock-Carey Syndrome 1
Sparse hair, Cleft palate, Camptodactyly, Enamel hypoplasia, Anteriorly placed anus, Thrombocytop... OMIM:619980
Congenital Disorder Of Glycosylation, Type Iij
Ataxia, Recurrent infection of the gastrointestinal tract, Hepatomegaly, Splenomegaly, Cirrhosis,... OMIM:613489
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Ileus, Heterochromia iridis, Hepatomegaly, Hypopigmented skin patche... ORPHA:163746
Aredyld Syndrome
Type II diabetes mellitus, Hepatomegaly, Lipoatrophy, Splenomegaly, Sparse body hair, Aplasia/Hyp... ORPHA:1133
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Omenn Syndrome
Hepatomegaly, Splenomegaly, Alopecia, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocyto... OMIM:603554
Whim Syndrome
Papilloma, Sinusitis, Lymphopenia, Cellulitis, Cutaneous melanoma, Limb ataxia, Lymphadenitis, Ab... ORPHA:51636
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Epistaxis, Wheezing, Fat malabsorption, Ja... OMIM:211600
Anauxetic Dysplasia 2
Nail dysplasia, Sparse hair, Macroglossia, Flexion contracture, Small nail OMIM:617396
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Ovarian neoplasm, Breast carcinoma, Benign gastrointestinal ... OMIM:158320
Carney Complex, Type 1
Pituitary adenoma, Hirsutism, Elevated circulating growth hormone concentration, Thyroid carcinom... OMIM:160980
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Werner Syndrome
Ovarian neoplasm, Neoplasm of the small intestine, Lipodystrophy, Neoplasm of the oral cavity, Hy... ORPHA:902
Triosephosphate Isomerase Deficiency
Cholelithiasis, Respiratory distress, Splenomegaly, Respiratory insufficiency, Normocytic anemia,... OMIM:615512
Noonan Syndrome 6
Sparse hair, Juvenile myelomonocytic leukemia, Multiple lentigines, Long eyebrows, Cafe-au-lait s... OMIM:613224
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair OMIM:234030
Jaberi-Elahi Syndrome
Broad-based gait, Inability to walk, Sparse hair, Brittle hair, Sparse eyebrow, Sparse eyelashes,... OMIM:617988
Immunodeficiency 64
B-cell lymphoma, Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresp... OMIM:618534
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Lymphoma, Hemolytic anemia, Muscle weakness, Dyspnea ORPHA:98375
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadeni... OMIM:618935
Ataxia, Jaundice, Macroglossia, Protein-losing enteropathy, Puberty and gonadal disorders, Increa... ORPHA:79320
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents, Aplastic anemia OMIM:610832
Adams-Oliver Syndrome 5
Hypoplastic toenails, Inguinal hernia, Splenomegaly, Right ventricular hypertrophy, Dystrophic to... OMIM:616028
Down Syndrome
Anal atresia, Type II diabetes mellitus, Narrow palate, Sparse hair, Macroglossia, Abnormality of... ORPHA:870
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Lig4 Syndrome
Acute leukemia, Abnormality of chromosome stability, Leukocytosis, Pancytopenia ORPHA:99812
Omenn Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Aplasia/Hypoplasia of the eyebrow, Alopecia, Eosinophil... ORPHA:39041
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Pancreatitis, Hepatomegaly, Splenomegaly, Choreoathetosis, Neutropenia, Ane... ORPHA:79312
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmented skin patches, Aplasia/Hypoplasia of the colon, Hypopig... ORPHA:3440
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Proteus Syndrome
Lymphangioma, Ovarian neoplasm, Neoplasm of the thymus, Generalized hyperpigmentation, Retinal ha... ORPHA:744
Sézary Syndrome
Cutaneous T-cell lymphoma, Hepatomegaly, Irregular hyperpigmentation, Splenomegaly, Alopecia, Lym... ORPHA:3162
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Juvenile gastrointestinal polyposis, Hematochezia, Anemia, Ga... OMIM:175050
Chronic Granulomatous Disease
Malabsorption, Sinusitis, Hepatomegaly, Hypermelanotic macule, Chronic pulmonary obstruction, Spl... ORPHA:379
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Increased mean platelet volume, Pyloric stenosis, Intestinal pseudo-obstr... OMIM:300048
Huntington Disease-Like 1
Bradykinesia, Dysmetria, Gait disturbance, Gait ataxia, Abnormal posturing ORPHA:157941
Immunodeficiency 14A, Autosomal Dominant
Cellulitis, Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cell... OMIM:615513
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hirsutism, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Epistaxis OMIM:314050
Hurler-Scheie Syndrome
Generalized hirsutism, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Hernia, Rhinitis ORPHA:93476
Even-Plus Syndrome
High palate, Anal atresia, Sparse hair, Synophrys, Highly arched eyebrow OMIM:616854
Pseudoprogeria Syndrome
Sparse hair, Absent eyebrow, Sparse eyebrow, Alopecia, Absent eyelashes ORPHA:2985
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Lymphoproliferative Syndrome 2
Hodgkin lymphoma, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymphoproliferative disorder, Hep... OMIM:615122
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Adrenal calcification, Cirrhosis, Esophageal varix, Jaundice ORPHA:75234
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Anterior hypopituitarism, Type ... ORPHA:181
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Hypothyroidism, Fine hair, Sparse hair ORPHA:2118
Hypotrichosis 6
Pili torti, Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes OMIM:607903
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Fle... ORPHA:90291
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Hyperinsulinemia, Sparse hair, Flexion contracture, Brittle hair, Alopecia, Loss of ... OMIM:608612
Piebald Trait
Neoplasm, Heterochromia iridis, Absent pigmentation of the ventral chest, Partial albinism, Pieba... OMIM:172800
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Glut1 Deficiency Syndrome 2
Ataxia, Splenomegaly, Hemolytic anemia, Choreoathetosis, Reticulocytosis OMIM:612126
Adams-Oliver Syndrome
Sparse hair, Alopecia, Cirrhosis, Leukopenia, Congenital hepatic fibrosis, Absent fingernail, Thr... ORPHA:974
Dyskeratosis Congenita, Autosomal Recessive 6
Ataxia, Sparse hair, Alopecia, Abnormality of skin pigmentation, Nail dystrophy, Bone marrow hypo... OMIM:616353
Mucopolysaccharidosis, Type Ii
Asthma, Hypertrichosis, Abnormality of retinal pigmentation, Hepatomegaly, Airway obstruction, Fl... OMIM:309900
Fanconi Anemia, Complementation Group E
Thrombocytopenia, Pancytopenia, Neutropenia, Chromosomal breakage induced by crosslinking agents,... OMIM:600901
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Axillary freckling, Lymphoma, Lisch nodules, Colon cancer, T-cell lymphom... OMIM:619097
Cardiofaciocutaneous Syndrome 4
Sparse hair, Absent eyebrow, Sparse eyelashes, Decreased response to growth hormone stimulation t... OMIM:615280
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hyperpigmentation of the sk... OMIM:602390
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Sparse hair, Cardiomegaly OMIM:613576
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Sparse hair OMIM:129810
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal number of dense granules, Sponta... OMIM:614072
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
High palate, Sleep apnea, Generalized hirsutism, Hepatomegaly, Inguinal hernia, Splenomegaly, Hyp... OMIM:269921
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Anisocytosis, Jaundice, Hypoparathyroidism, Adrenal insufficie... ORPHA:231226
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Hyperpigmentation of the skin, Hypogonad... OMIM:613313
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... ORPHA:231214
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Prolidase Deficiency
High palate, Asthma, Hepatomegaly, Splenomegaly, Facial hirsutism, Chronic lung disease, Recurren... OMIM:170100
Hermansky-Pudlak Syndrome 1
Colitis, Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Inflammation of... OMIM:203300
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Immunodeficiency, Common Variable, 2
Neoplasm, Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphoma, Recurrent sinusitis, Recu... OMIM:240500
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dysplasia, Progressive hypotrichosis, Abnormality of hair texture, Sparse eyebrow, Sparse ey... OMIM:225060
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Low anterior hairline, Sparse hair, Distal muscle weakness, Hypothyroidism, Fin... ORPHA:391408
Rosselli-Gulienetti Syndrome
Nail dysplasia, Progressive hypotrichosis, Cleft palate, Sparse eyebrow, Sparse eyelashes OMIM:225000
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Ataxia, Splenomegaly, Spontaneous hemolytic cris... OMIM:613470
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Hydrocele testis, Absent eyebrow, Alopecia, Sparse body hair, Abnormality of t... ORPHA:69735
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Abnormality of the peritoneum, Pleural effus... ORPHA:545
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Trichothiodystrophy 8, Nonphotosensitive
Woolly hair, Sparse hair, Sparse eyebrow, Trichorrhexis nodosa, Head titubation OMIM:619691
Vici Syndrome
Ocular albinism, Cleft palate, Hypopigmentation of the skin, Left ventricular hypertrophy, Hypopi... OMIM:242840
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Fat ma... OMIM:601847
Fanconi Anemia, Complementation Group C
Neutropenia, Cryptorchidism, Flexion contracture, Hypergonadotropic hypogonadism, Thrombocytopeni... OMIM:227645
Dystonia 1, Torsion, Autosomal Dominant
Multiple joint contractures, Inability to walk, Dysphagia, Facial palsy, Abnormal posturing OMIM:128100
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... OMIM:203200
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Type II diabetes mellitus, Hepatomegaly, Splenome... OMIM:616860
Johnson Neuroectodermal Syndrome
Absent eyebrow, Sparse hair, Alopecia, Cleft palate, Hypogonadotropic hypogonadism, Facial palsy,... OMIM:147770
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Sparse hair OMIM:272980
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Lymphoproliferative Syndrome 1
Hodgkin lymphoma, B-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoproliferative disorder, Leuk... OMIM:613011
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Whipple Disease
Malabsorption, Ataxia, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Mediastinal lymphad... ORPHA:3452
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Abnormality of skin pigmentation, Sparse hair, Abnormal fingernail morphology ORPHA:1810
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Thrombocytopenia, Pancytopenia, Abnormality of sk... OMIM:227650
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hirsutism, Low anterior hairline, Hepatomegaly, Inability to walk, Flexion ... OMIM:617303
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hypertrichosis, Hepatomegaly, Inguinal hernia, Splenomegaly, Cleft palate, Pulmonary... OMIM:235255
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:616099
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Sparse hair, Nailfold capillary tortuosity, Leukopenia, Follicular hyperplasia, Tach... OMIM:615934
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatomegaly, Periportal fibrosis, Splenomegaly, Adrenal calcification, Ci... OMIM:278000
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Cholestasis, Thrombocytopenia, Camptodactyly, Hypothyroidism, Prote... OMIM:608104
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Lymphopenia, Hepatomegaly, Splenomegaly, Atrophic gastritis, Autoimmune thromboc... OMIM:616100
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hemangioma, Hepatosplenom... ORPHA:824
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Meckel diverticulum, Brittle hair, Tiger tail banding, Trichorrhexis nodosa, Pyloric... OMIM:616395
Filippi Syndrome
Hypertrichosis, Cryptorchidism, Sparse hair, Frontal hirsutism OMIM:272440
Oculoskeletodental Syndrome
Low anterior hairline, Hepatomegaly, Macroglossia, Splenomegaly, Hypothyroidism, Protein-losing e... OMIM:618440
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow, Hyperpigmentati... OMIM:104100
Congenital Short Bowel Syndrome
Intestinal atresia, Steatorrhea, Intestinal malrotation, Abnormal peristalsis, Decreased intestin... OMIM:615237
Intellectual Developmental Disorder, Autosomal Recessive 5
Broad-based gait, Thick eyebrow, Sparse hair, Synophrys, Achilles tendon contracture OMIM:611091
Ataxia, Hepatomegaly, Splenomegaly, Cough, Gastrointestinal hemorrhage, Epistaxis, Lethargy ORPHA:99745
Systemic Mastocytosis With Associated Hematologic Neoplasm
Multiple myeloma, Hepatomegaly, Neutrophilia, Lymphadenopathy, Abnormal mast cell morphology, Spl... ORPHA:98849
Johnson Neuroectodermal Syndrome
Absent eyebrow, Sparse hair, Alopecia, Cleft palate, Facial palsy, Absent eyelashes, Hypogonadism... ORPHA:2316
Oculocutaneous Albinism
Ocular albinism, Cutaneous melanoma, Generalized hypopigmentation, Hypopigmentation of the skin, ... ORPHA:55
Tetrasomy 12P
Anal atresia, Abnormal soft palate morphology, Sparse hair, Sparse eyebrow ORPHA:884
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Hirsutism, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Pyloric sten... OMIM:613327
Felty Syndrome
Sinusitis, Hepatomegaly, Irregular hyperpigmentation, Cellulitis, Splenomegaly, Rhinitis, Abnorma... ORPHA:47612
Budd-Chiari Syndrome
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Intestinal obst... ORPHA:131
Fanconi Anemia, Complementation Group D2
Annular pancreas, Neutropenia, Cryptorchidism, Hypergonadotropic hypogonadism, Tracheoesophageal ... OMIM:227646
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Lelis Syndrome
Yellow nails, Sparse hair, Furrowed tongue, Vitiligo, Perioral hyperpigmentation, Abnormal toenai... ORPHA:140936
Ichthyosis, Congenital, Autosomal Recessive 11
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Curly ... OMIM:602400
Sparse scalp hair, Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Melanocytic nevus, ... ORPHA:1660
2Q32Q33 Microdeletion Syndrome
High palate, Sparse hair, Cleft palate, Fine hair, Decreased testicular size ORPHA:251019
Mucopolysaccharidosis, Type Iiic
Hirsutism, Hypertrichosis, Hepatomegaly, Splenomegaly, Coarse hair, Hernia, Synophrys, Dysphagia OMIM:252930
Xp22.13P22.2 Duplication Syndrome
High palate, Congenital diaphragmatic hernia, Sparse hair, Umbilical hernia, Polycystic ovaries, ... ORPHA:284180
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphoma, Anemia, Lymphadenopathy ORPHA:37748
Sporadic Infantile Bilateral Striatal Necrosis
Bradykinesia, Gait disturbance, Titubation, Gait ataxia, Dysphagia, Abnormal posturing ORPHA:225147
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Hirsutism, Low anterior hairline, Thick eyebrow, Sparse hair, Ataxia, Long eyelashes OMIM:616819
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Bone Marrow Failure Syndrome 3
Exocrine pancreatic insufficiency, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Aplastic anemi... OMIM:617052
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, White hair, H... ORPHA:79435
Gand Syndrome