Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mcm2 mutations

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

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia 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
Cronkhite-Canada Syndrome
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Dystrophic fingernails, Intestinal polyp... ORPHA:2930
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Fanconi Anemia, Complementation Group G
Anemia, Abnormality of chromosome stability, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia OMIM:600546
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer, Breast carcinoma, Colorectal polyposis OMIM:135290
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Colon cancer, Neoplasm of the rectum, Colorectal polyposis ORPHA:401911
Mismatch Repair Cancer Syndrome 4
Multiple cafe-au-lait spots, Astrocytoma, Colon cancer, Glioblastoma multiforme, Adenomatous colo... OMIM:619101
Autoimmune Polyendocrine Syndrome, Type Ii
Steatorrhea, Cirrhosis, Iron deficiency anemia, Asplenia, Hypothyroidism, Chronic hepatitis, Prim... OMIM:269200
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Colon cancer, Juvenile colonic polyposis, Adenomatous colonic pol... OMIM:610069
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Non-caseating epithelioid cell gran... ORPHA:227990
Myasthenia Gravis
Fatigable weakness, Abnormality of the endocrine system, Facial palsy, Limb muscle weakness, Dysp... OMIM:254200
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Non-caseating epithelioid cell gran... ORPHA:227982
Hypotrichosis 1
Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S... OMIM:605389
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Cutaneous leiomyosarcoma, Cutaneous leiomyoma, Renal cell carcinoma, Trichodiscom... OMIM:135150
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Macrocephaly-Intellectual Disability-Autism Syndrome
Lymphoid nodular hyperplasia, Thyroid carcinoma, Intestinal polyposis, Cafe-au-lait spot, Multipl... ORPHA:210548
Serrated Polyposis Syndrome
Ovarian neoplasm, Pancreatic adenocarcinoma, Gastric diverticulum, Germ cell neoplasia, Colorecta... ORPHA:157798
Good Syndrome
Mediastinal lymphadenopathy, Anemia, Fatigable weakness, Abnormal leukocyte morphology, Thrombocy... ORPHA:169105
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Chromosomal breakage induced by c... OMIM:616435
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Addison Disease
Delayed puberty, Decreased circulating cortisol level, Sparse axillary hair, Type I diabetes mell... ORPHA:85138
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Familial Adenomatous Polyposis 2
Colon cancer, Adenomatous colonic polyposis OMIM:608456
Multiple Endocrine Neoplasia Type 1
Hematemesis, Duodenal ulcer, Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocyto... ORPHA:652
Polyposis, Intestinal, With Multiple Exostoses
Intestinal polyposis, Multiple exostoses OMIM:175450
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Cirrhosis, Hepatomegaly, Brittle hair, Colitis, Uncombable hair, Woolly hai... OMIM:614602
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
N Syndrome
Abnormality of chromosome stability, Leukemia OMIM:310465
Transcobalamin Deficiency
Pancytopenia, Abnormality of chromosome stability, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Nail dystrophy, Protein-losing enteropathy, Anemia, Hyperpigmentation of the skin... OMIM:175500
Hereditary Mixed Polyposis Syndrome
Thyroid carcinoma, Hyperplastic colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, ... ORPHA:157794
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Lymphoma, Ascites, Splenomegaly, Abnormal small intestine ... ORPHA:100025
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Neutropenia, Lymphadenopathy, Anemia, Decreased FOXP3-expressing T cell count, A... OMIM:304790
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Griscelli Syndrome, Type 1
Recurrent tonsillitis, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmenta... OMIM:214450
Hypotrichosis 10
Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:614238
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Enterocolitis, Thrombocytopenia, Splenomegaly, Reduced natural killer cell ... OMIM:616050
Desmoid Tumor
Fibroma, Intestinal obstruction, Gastrointestinal hemorrhage, Intestinal polyposis, Neoplasm of t... ORPHA:873
Diarrhea 5, With Tufting Enteropathy, Congenital
Crypt hyperplasia, Villous atrophy OMIM:613217
Ganglioneuroma
Gastrointestinal hemorrhage, Abnormality of the adrenal glands, Colorectal polyposis, Multiple in... ORPHA:251992
Myasthenia, Limb-Girdle, Autoimmune
Fatigable weakness, Hashimoto thyroiditis, Thymoma, Neoplasm, Ophthalmoparesis OMIM:159400
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Ataxia, Splenomegaly, Gait disturbance ORPHA:2274
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Thyroiditis, B lymphocytopenia, Patchy alopecia, T ... OMIM:606367
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Microvillus inclusions, Villous atrophy OMIM:619445
Paraneoplastic Pemphigus
B-cell lymphoma, Sarcoma, Thymoma ORPHA:63455
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypopigmented skin patches, Gait disturbance, Curly hair, Hemangioma, Cafe-au-lait spot, Intestin... ORPHA:457485
Hirschsprung Disease
Neoplasm of the thyroid gland, Intestinal obstruction, Aganglionic megacolon, Intestinal polyposi... ORPHA:388
Attenuated Familial Adenomatous Polyposis
Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c... ORPHA:220460
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Gardner Syndrome
Neoplasm of the pancreas, Lipoma, Odontoma, Thyroid nodule, Ampulla of Vater carcinoma, Desmoid t... ORPHA:79665
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Rectal polyposis, Small intestinal polyposis, Hematochezia, Adenomatous colonic polyposis... ORPHA:329971
Diarrhea 9
Villous atrophy OMIM:618168
Li-Fraumeni Syndrome
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... ORPHA:524
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Neoplasm of the skin, Ovarian dermo... ORPHA:480536
Lactose Intolerance, Adult Type
Decreased small intestinal mucosa lactase level OMIM:223100
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... ORPHA:2722
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo... ORPHA:263665
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis OMIM:246470
Thymoma, Familial
Thymoma, Neoplasm OMIM:274230
Cancer-Associated Retinopathy
Granular macular appearance, Neoplasm of the pancreas, Small cell lung carcinoma, Testicular neop... ORPHA:71505
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Iron deficiency anemia, Jejunitis, Macrocytic anem... ORPHA:398063
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Lynch Syndrome
Neoplasm of the stomach, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal polypo... ORPHA:144
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Villous atrophy, Lymphadenopathy, Pancytopenia, Decreased proportion... OMIM:614700
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Lipoma, Odontoma, Thyroid nodule, Desmoid tumors, Fibroadenoma of the b... ORPHA:247806
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Turcot Syndrome With Polyposis
Intestinal polyposis, Cerebellar medulloblastoma, Pituitary adenoma, Hematochezia, Ataxia, Desmoi... ORPHA:99818
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology ORPHA:103907
Netherton Syndrome
Brittle hair, Sparse scalp hair, Brittle scalp hair, Recurrent infection of the gastrointestinal ... OMIM:256500
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Irregular hyperpigmentation, Thyroid carcinoma, Intestinal polyposis, Lipoma, Capi... ORPHA:109
Oliver-Mcfarlane Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Long eyebrows, Long eyela... OMIM:275400
Colorectal Cancer, Susceptibility To, 12
Carcinoma, Colorectal polyposis OMIM:615083
Oligodontia-Colorectal Cancer Syndrome
Adenomatous colonic polyposis, Fundic gland polyposis, Sparse scalp hair, Absent eyebrow, Sparse ... OMIM:608615
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hamartomatous stomach polyps, Rectal polyp... ORPHA:2929
Griscelli Syndrome, Type 2
Hemophagocytosis, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation ... OMIM:607624
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Large intestinal polyposis, ... ORPHA:247798
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Functional abnormality of the gastroint... ORPHA:90362
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Syndromic Diarrhea
Splenomegaly, Lymphopenia, Inguinal hernia, Brittle hair, Woolly hair, Cafe-au-lait spot, Increas... ORPHA:84064
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Abnormality of the nail, Sparse scalp hair, Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy, Abnormal eyelash morphology, Sparse body hair, Abnormal toenail morphology, Melanocy... ORPHA:1818
Congenital Disorder Of Glycosylation, Type Id
Nail dysplasia, Joint contracture of the hand, Small nail, High palate, Bifid uvula, Flexion cont... OMIM:601110
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Secondary Short Bowel Syndrome
Steatorrhea, Aganglionic megacolon, Primary hypothyroidism, Small intestinal dysmotility, Cholest... ORPHA:95427
Peutz-Jeghers Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Multiple lentigines, Abnormality of the gall... ORPHA:2869
Congenital Short Bowel Syndrome
Intestinal malrotation, Lipoatrophy, Intestinal hypoplasia, Sparse hair ORPHA:2301
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Ascites, Lipodystrophy, Splenomegaly, Villous atrophy OMIM:608776
Peutz-Jeghers Syndrome
Rectal prolapse, Neoplasm of the pancreas, Gastrointestinal carcinoma, Hypermelanotic macule, Iro... OMIM:175200
Familial Adenomatous Polyposis 1
Odontoma, Desmoid tumors, Fibroadenoma of the breast, Duodenal adenocarcinoma, Keloids, Multiple ... OMIM:175100
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Aganglionic megacolon, Hypopigmentation ... ORPHA:2885
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Protein-losing enteropathy, Lymphangiectasis, Cirrhosis, Hepatomegaly, Hyperinsuline... OMIM:602579
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Paronychia, Onychogryposis, Villous atrophy OMIM:614328
Dystonia 31
Abnormal posturing, Difficulty walking, Dysphagia OMIM:619565
Familial Adenomatous Polyposis
Lipoma, Odontoma, Pituitary adenoma, Desmoid tumors, Neoplasm of the gastrointestinal tract, Duod... ORPHA:733
Mantle Cell Lymphoma
B-cell lymphoma, Splenomegaly, Abnormality of the gastrointestinal tract, Lymphadenopathy ORPHA:52416
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Immunodeficiency 31C
Delayed puberty, Autoimmune hemolytic anemia, Protein-losing enteropathy, Impaired lymphocyte tra... OMIM:614162
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Inguinal hernia, Gait disturbance, Ataxia, Sparse hair, Fine hair, Cryptorchidism ORPHA:1174
Benign Schwannoma
Abnormality of the adrenal glands, Intestinal polyposis, Peripheral schwannoma, Scleral schwannom... ORPHA:252164
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Cryptorchidism, Hypogonadism, Muscle weakness ORPHA:85274
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Mccune-Albright Syndrome
Intestinal polyposis, Large cafe-au-lait macules with irregular margins, Precocious puberty, Pitu... OMIM:174800
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Acute myeloid leukemia, Chromosomal breakage induced by cro... OMIM:605724
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Melanocytic nevus, Alopecia uni... ORPHA:1008
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Colon cancer, Multiple cafe-au-lait spots, Glioblastoma mul... OMIM:619096
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Trichohepatoenteric Syndrome 1
Trichorrhexis nodosa, Cirrhosis, Jaundice, Hepatomegaly, Brittle hair, Generalized hypopigmentati... OMIM:222470
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Interphalangeal joint contracture of finger, Thick eyebrow, Sparse hair, Knee flexion contracture... OMIM:606242
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Nail dystrophy, Tiger tail banding, Sparse eyebrow, Ataxia, Sparse hair OMIM:619692
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Hypopigmentation of the skin, ... OMIM:617294
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Cowden Syndrome 7
Trichilemmoma, Ductal carcinoma in situ, Intestinal polyposis, Papillary thyroid carcinoma, Heman... OMIM:616858
Cowden Syndrome 1
Carcinoma, Thyroiditis, High palate, Furrowed tongue, Lymphopenia, Hamartomatous polyposis, Hypot... OMIM:158350
Waardenburg-Shah Syndrome
Premature graying of hair, Intestinal obstruction, Aganglionic megacolon, Hypopigmentation of hai... ORPHA:897
Familial Melanoma
Neoplasm of the stomach, Neoplasm of the pancreas, Abnormal hair morphology, Abnormality of the l... ORPHA:618
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hodgkin lymphoma, Splenomegaly, Reduced natural killer cell count, Neutropenia, T-cell lymphoma, ... ORPHA:158057
Mismatch Repair Cancer Syndrome 1
Basal cell carcinoma, T-cell lymphoma, Rhabdomyosarcoma, Pleomorphic xanthoastrocytoma, Leukemia,... OMIM:276300
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Long eyelashes, Hypothyroidism, Ataxia, Sp... ORPHA:3363
Tumor Predisposition Syndrome 4
Stomach cancer, Glioma, Sarcoma, Meningioma, Breast carcinoma OMIM:609265
Focal Facial Dermal Dysplasia 3, Setleis Type
Distichiasis, Anal atresia, Low anterior hairline, Sparse hair, Absent lower eyelashes OMIM:227260
Mosaic Variegated Aneuploidy Syndrome
Rhabdomyosarcoma, Intestinal polyposis, Stomach cancer, Multiple cafe-au-lait spots, Ascites, Vag... ORPHA:1052
Cowden Syndrome 5
Thyroiditis, High palate, Furrowed tongue, Hamartomatous polyposis, Hypothyroidism, Transitional ... OMIM:615108
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly, Myelodysplasia OMIM:162830
Cowden Syndrome 6
Thyroiditis, High palate, Furrowed tongue, Hamartomatous polyposis, Hypothyroidism, Transitional ... OMIM:615109
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Refra... ORPHA:75564
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Pancreatic adenocarcinoma, Neoplasm of the rectum, Squamous cell carcinoma,... ORPHA:454840
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Thrombo... OMIM:133180
Congenital Tufting Enteropathy
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec... ORPHA:92050
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa... ORPHA:79076
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Villous atrophy, Refractory sideroblastic anemia, Anemia, Hepatomegaly, Pancytopenia... OMIM:557000
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Hypergonadotropic hypog... OMIM:212065
Intermediate Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Anemia, Scarring alopecia of scalp, Atrophic scars, Abnormality of skin pigmentat... ORPHA:79402
Thymic Neuroendocrine Tumor
Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neo... ORPHA:97289
Thymic Carcinoma
Diaphragmatic paralysis, Mediastinal lymphadenopathy, Neoplasm of the thymus, Fatigable weakness ORPHA:99868
Cowden Syndrome
Lipoma, Neoplasm of the skin, Ataxia, Neoplasm, Neoplasm of the central nervous system, Adenoma s... ORPHA:201
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Normochromic anemia, Gastroesophageal reflux, Inguinal hernia, Thrombocytopen... OMIM:614857
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Atrophic scars, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Sp... ORPHA:79133
Griscelli Syndrome
Premature graying of hair, Hypopigmented skin patches, Jaundice, Hepatomegaly, Lymphadenopathy, S... ORPHA:381
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Schopf-Schulz-Passarge Syndrome
Narrow nail, Basal cell carcinoma, Nail dystrophy, Thin nail, Squamous cell carcinoma, Small nail... OMIM:224750
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... OMIM:301083
Grfoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pheochromocytoma, ... ORPHA:97261
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Juvenile Nasopharyngeal Angiofibroma
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis ORPHA:289596
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Nail dystrophy, Onychogryposis of toenails, Abnormality of the nail, Abnormal hair morphology, Sp... ORPHA:1808
Ataxia-Telangiectasia
Premature graying of hair, Delayed puberty, Hypopigmentation of hair, Lymphopenia, Multiple cafe-... ORPHA:100
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy, Hypopigmentation of hair, Glossitis, Neoplasm of the breast, N... ORPHA:2221
Gaucher Disease Type 2
Hepatomegaly, Respiratory distress, Ophthalmoplegia, Splenomegaly, Dysphagia, Flexion contracture ORPHA:77260
Immunodeficiency 54
Chromosome breakage, Reduced natural killer cell count, Splenomegaly OMIM:609981
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin, Onychogryposis of fingernail, Camptoda... ORPHA:2251
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, Hypopigmentation of... ORPHA:895
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:206100
Colorectal Cancer
Neoplasm of the stomach, Renal cell carcinoma, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Familial Adenomatous Polyposis 3
Basal cell carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Bladder neopl... OMIM:616415
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis OMIM:266140
Ehlers-Danlos Syndrome, Periodontal Type, 2
Inguinal hernia, Colon cancer, Pretibial hyperpigmentation, Umbilical hernia, Nephroblastoma, Aty... OMIM:617174
Gist-Plus Syndrome
Intussusception, Intestinal polyposis, Gastrointestinal stroma tumor OMIM:175510
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Renal cortical adenoma, Abnormal lymph node morphology, Neoplasm of head and neck, Papillary thyr... ORPHA:97290
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga... ORPHA:2198
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Astrocytoma, Breast intraductal papilloma, Ovarian cyst, Thyroid adenoma,... OMIM:617100
Bazex-Dupré-Christol Syndrome
Trichorrhexis nodosa, Basal cell carcinoma, Coarse hair, Sparse or absent eyelashes, Sparse scalp... ORPHA:113
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Sparse or absent eyelashes, Abnormal toenail morphology, Abnormal fingernai... ORPHA:1433
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Delayed puberty, Autoimmune hemolytic anemia, Abnormality of the endocrine system, Primary hypoth... ORPHA:391487
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Cholangitis, Colitis, Viral hepatitis, Biliary tract abnormality, Villous atrophy OMIM:209920
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Portal fibrosis, Anemia, Microvesicular hepatic steatosis, Cho... OMIM:619377
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Piebaldism
Hypopigmented skin patches, Aganglionic megacolon, Hypopigmentation of hair, Neoplasm of the skin... ORPHA:2884
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Scarring alopecia of scalp, Abnormal dental enamel morphology, Cholestasi... ORPHA:59303
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Spastic gait, Osteoma, Iron deficiency anemia, High palate, Early balding, Low posterior hairline... ORPHA:261584
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, Heterochromia iridi... OMIM:277580
Classic Mycosis Fungoides
Irregular hyperpigmentation, Hypopigmented skin patches, Hepatomegaly, Lymphadenopathy, Abnormali... ORPHA:2584
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Thin nail, Absent eyelashes, Absent eyebrow, Cafe-au-lait spot, Hypothyroidism, S... OMIM:618625
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, Heterochromia iridi... OMIM:613265
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the stomach... ORPHA:44890
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Microvillus Inclusion Disease
Abnormal small intestinal villus morphology, Villous atrophy ORPHA:2290
Hypotrichosis 7
Brittle hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse scalp hair, Woolly... OMIM:604379
Icf Syndrome
Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Chylomicron Retention Disease
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes OMIM:246700
Dyskeratosis Congenita, Autosomal Dominant 1
Premature graying of hair, Aplastic anemia, Nail dystrophy, Cirrhosis, Anemia, Ridged nail, Incre... OMIM:127550
Fg Syndrome 3
Cryptorchidism, Pyloric stenosis, Joint contracture, Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Gait disturbance, Ataxia, Splenomegaly, Unsteady ga... ORPHA:2585
Cartilage-Hair Hypoplasia
Basal cell carcinoma, Aganglionic megacolon, Anal stenosis, Esophageal atresia, Impaired lymphocy... OMIM:250250
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Brain neoplasm, Aden... ORPHA:447877
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Ovarian neoplasm, Squamous cell carcinoma, Sparse hair, Aplasia/Hypoplasia ... ORPHA:50944
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... ORPHA:3361
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Increased mitochondrial number, Protein-losing enteropathy OMIM:619063
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Genera... ORPHA:33445
Tumor Predisposition Syndrome 2
Ductal carcinoma in situ, Acute myeloid leukemia, Uveal melanoma, Juvenile type ovarian granulosa... OMIM:619975
Focal Facial Dermal Dysplasia Type Iii
Hypopigmented skin patches, Highly arched eyebrow, Multiple cafe-au-lait spots, Anal atresia, Dis... ORPHA:1807
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Small nail, Anemia of inadequate production, Reticulocytosis, Poi... OMIM:615631
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple... ORPHA:567983
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Lymphoma, Splenomegaly, Lymphoproliferative disorder, ... OMIM:614470
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis... OMIM:619375
Fanconi Anemia, Complementation Group S
Chromosome breakage, Anemia OMIM:617883
Aicardi Syndrome
Delayed puberty, Intestinal polyposis, Gastroesophageal reflux, Sparse lateral eyebrow, Abnormali... ORPHA:50
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Hepatic steatosis, Jaundice, Hepatomegaly, Decreased proportion of C... OMIM:619573
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Colon cancer, Endometrial carcinoma, Adenomatous co... OMIM:613244
Chediak-Higashi Syndrome
Hypopigmentation of the skin, Leukopenia, Splenomegaly, Ataxia, Giant neutrophil granules, Neutro... OMIM:214500
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Neoplasm of head and neck, Papillary thyroid carcinoma, Chronic n... ORPHA:319487
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Generalized lipodystrophy, Hirsutism, Reduced subcutaneous adipose tissue, Hepatosp... OMIM:612526
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level OMIM:223000
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Red hai... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Red hai... ORPHA:71526
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia, B-cell lymphoma... OMIM:619164
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Griscelli Syndrome Type 2
Premature graying of hair, Jaundice, Hepatomegaly, Lymphadenopathy, Hypopigmentation of hair, Pan... ORPHA:79477
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Azoospermia, Low posterior hairline, Hypergonadotropic hypogonadism, Abnorma... ORPHA:2183
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Brittle hair, Absent eyelashes, Absent eyebrow, Sparse body hair, Cleft palate, C... ORPHA:2890
Immunodeficiency 16
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Splenomegaly, Pancytopenia OMIM:615593
Monilethrix
Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Medulloblastoma
Spinal cord tumor, Progressive cerebellar ataxia, Cerebellar ataxia associated with quadrupedal g... ORPHA:616
Angioma Serpiginosum, X-Linked
Nail dystrophy, Fine hair, Sparse hair OMIM:300652
Elliptocytosis 3
Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume OMIM:617948
Xq27.3Q28 Duplication Syndrome
Decreased testicular size, Sparse body hair, Cryptorchidism, Hypogonadism ORPHA:261483
Crandall Syndrome
Brittle hair, Abnormal testis morphology, Sparse body hair, Hypogonadism, Aplasia/Hypoplasia of t... ORPHA:202
Bazex-Dupre-Christol Syndrome
Trichorrhexis nodosa, Basal cell carcinoma, Coarse hair, Trichoepithelioma, Hyperpigmentation of ... OMIM:301845
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Inability to walk, Hypopigmentation of hair, Gastroesophageal reflux, Ataxia, Dysphagia, Muscle w... ORPHA:70472
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Plantar flexion contracture, Bifid uvula, Sparse hair, Umbilical hernia, Con... ORPHA:2872
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Co... OMIM:613101
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Gastrointestinal atresia, Nail dystrophy, Alopecia of scalp, Rectal ... ORPHA:436252
Nicolaides-Baraitser Syndrome
High, narrow palate, Curly eyelashes, Highly arched eyebrow, Abnormal testis morphology, Long eye... ORPHA:3051
Li-Fraumeni Syndrome
Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma... OMIM:151623
Sandifer Syndrome
Hematemesis, Abnormal posturing, Anemia, Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:71272
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the stomach, Pheochromocytoma, Pulmonary carcinoid tumor, Adrenal hyperplasia, Lympho... ORPHA:99889
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
High, narrow palate, Cryptorchidism, Sparse hair, Umbilical hernia OMIM:273390
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Anal canal squamous cell carcinoma, Neoplasm of the rectum, Lymph... ORPHA:424019
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Anemia, Abnormal leukocyte morphology, Sparse scalp ha... ORPHA:3322
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Immunodeficiency 84
Perianal abscess, B-cell lymphoma, B lymphocytopenia, Splenomegaly OMIM:619437
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Rhabdomyosarcoma, Enlarged kidney, Large intestinal polyposis, S... ORPHA:116
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Fanconi Anemia, Complementation Group R
Anemia, Chromosomal breakage induced by crosslinking agents OMIM:617244
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Aganglionic megacolon, Hypopigmentation of... ORPHA:894
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Myelodysplasia... ORPHA:231401
Aredyld
Generalized hypotrichosis OMIM:207780
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Familial Multinodular Goiter
Basal cell carcinoma, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Colorectal p... ORPHA:276399
Autoimmune Lymphoproliferative Syndrome, Type Iii
Follicular hyperplasia, Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, L... OMIM:615559
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Basal cell carcinoma, Nail dystrophy, Trichorrhexis nodosa, Squamous cell... OMIM:601675
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Absent axillary hair OMIM:269600
Moynahan Syndrome
Hypogonadism, Sparse hair, Alopecia ORPHA:2574
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Gastroesophageal reflux, Periportal fibrosis, Hypoplasia of the ov... ORPHA:79328
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Tip-toe gait, Inability to walk, Gait disturbance, Dysphagia, Pigmentary reti... ORPHA:216866
Dyskeratosis Congenita
Premature graying of hair, Hypermelanotic macule, Neoplasm of the pancreas, Nail dystrophy, Anore... ORPHA:1775
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Lipoatrophy, Respiratory distress, Hypopigmentation of the skin, Sparse hair, Aplasia/Hypoplasia ... ORPHA:261304
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Villous atrophy, Gastritis, Anoperineal fistula, Cholesteatoma, Lymphadenopathy, ... OMIM:619381
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Slow-growing hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair OMIM:129490
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Inflammation of the large intestin... OMIM:300635
Cardiofaciocutaneous Syndrome 2
High palate, Absent eyebrow, Curly hair, Sparse hair, Fine hair OMIM:615278
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Mandibuloacral Dysplasia
Lipoatrophy, Hyperinsulinemia, Hypoplastic fingernail, Abnormal tongue morphology, Loss of subcut... ORPHA:2457
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Dysphagia OMIM:304700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Hidrotic Ectodermal Dysplasia, Halal Type
Nail dysplasia, Absent eyelashes, Sparse scalp hair, Multiple cafe-au-lait spots, Absent eyebrow,... ORPHA:1809
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology... OMIM:614931
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Deficient excision of ... OMIM:600901
Monilethrix
Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia OMIM:158000
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Muscle weakness, Hyperpigmentation of the skin ORPHA:75563
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Abnormal intestine morph... ORPHA:397596
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Ataxi... OMIM:256710
Carney Complex, Type 1
Thyroid carcinoma, Multiple lentigines, Red hair, Pheochromocytoma, Cardiac myxoma, Hirsutism, Th... OMIM:160980
Alpha-1-Antitrypsin Deficiency
Gastric varix, Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... OMIM:602032
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, T lymphocytopenia, Verrucae, Decreased proportion of memory ... OMIM:620632
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
10Q22.3Q23.3 Microdeletion Syndrome
Intestinal polyposis, Breast aplasia ORPHA:276413
Hereditary Mucoepithelial Dysplasia
Anorectal anomaly, Furrowed tongue, Tracheoesophageal fistula, Sparse hair, Fine hair, Alopecia ORPHA:1839
Vascular Hyalinosis
Premature graying of hair, Protein-losing enteropathy, Hematochezia, Chorioretinal scar OMIM:277175
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Premature graying of hair, Gastric varix, Increased mean corpuscular volume, Esophageal varix, Po... OMIM:620367
Wolman Disease
Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Ascites, Splenomegal... ORPHA:75233
Blepharocheilodontic Syndrome 1
Nail dysplasia, High anterior hairline, Small nail, Anal atresia, Distichiasis, Sparse hair OMIM:119580
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Ruijs-Aalfs Syndrome
Premature graying of hair, Hepatocellular carcinoma, Elbow flexion contracture, Lipodystrophy, Hy... OMIM:616200
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic syst... ORPHA:1414
Progeroid Syndrome, Petty Type
Lipoatrophy, Brittle hair, Abnormality of the nail, Abnormal hair morphology, Reduced subcutaneou... ORPHA:2963
Trichodental Dysplasia
Brittle hair, Slow-growing hair, Sparse hair, Fine hair, Odontodysplasia OMIM:601453
Muir-Torre Syndrome
Basal cell carcinoma, Adenoma sebaceum, Ovarian neoplasm, Malignant genitourinary tract tumor, Be... OMIM:158320
Aredyld Syndrome
Lipoatrophy, Hepatomegaly, Abnormal dental enamel morphology, Refractory anemia with ringed sider... ORPHA:1133
Portal Hypertension, Noncirrhotic, 1
Esophageal varix, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Werner Syndrome
Premature graying of hair, Lipoatrophy, White forelock, Hypogonadism, Neoplasm, Acral lentiginous... ORPHA:902
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Deficient excision of ... OMIM:227650
Hepatoportal Sclerosis
Gastric varix, Gastrointestinal hemorrhage, Jaundice, Anemia, Abnormal liver parenchyma morpholog... ORPHA:64743
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anemia, Pancreatitis, Respiratory distress, Thrombocytopenia, Splenomegaly, Choreoa... ORPHA:79312
Hypotrichosis 9
Abnormality of the nail, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Sparse... OMIM:614237
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Cutaneous leiomyoma, Barrett esophagus, Papillary renal cell carcinoma type ... ORPHA:523
Fanconi Anemia, Complementation Group P
Chromosomal breakage induced by crosslinking agents, Anemia, Pancytopenia OMIM:613951
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Loss of ambulation, Dysphagia, Sparse hair, Neutropenia OMIM:618253
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Aganglionic megacolon, Hepatomegaly, Hypop... ORPHA:163746
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Thick hair, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholest... OMIM:607626
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Multiple lentigines, Long eyebrows, Low posterior hairline, Cur... OMIM:613224
Familial Colorectal Cancer Type X
Neoplasm of the thyroid gland, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Basal cell ... ORPHA:440437
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Hypergonadotropic hypogonadism, Sparse body hair, Flexion contracture, Aplasia... ORPHA:2850
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents, B lymphocytopenia, Reduced natural killer ce... OMIM:620133
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Jaberi-Elahi Syndrome
Inability to walk, Brittle hair, Broad-based gait, Distal muscle weakness, Sparse eyelashes, Gait... OMIM:617988
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Harderoporphyria
Increased fecal harderoporphyrin, Hepatomegaly, Hyperpigmentation of the skin, Reticulocytosis, P... OMIM:618892
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Mismatch Repair Cancer Syndrome 3
T-cell lymphoma, Neoplasm of the rectum, Lymphoma, Multiple cafe-au-lait spots, Astrocytoma, Colo... OMIM:619097
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Nail dystrophy, Absent peripheral lymph nodes in presence of infection, Increased B cell count, I... ORPHA:98813
Witkop Syndrome
Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ... OMIM:189500
Braddock-Carey Syndrome 1
Camptodactyly, Curly hair, Enamel hypoplasia, Cleft palate, Thrombocytopenia, Sparse hair, Anteri... OMIM:619980
Anauxetic Dysplasia 2
Nail dysplasia, Small nail, Flexion contracture, Sparse hair, Macroglossia OMIM:617396
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair OMIM:234030
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Cafe-au-lait spot, Sideroblastic anemia, Poikiloc... OMIM:615234
Even-Plus Syndrome
Highly arched eyebrow, High palate, Anal atresia, Synophrys, Sparse hair OMIM:616854
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Broad-based gait, Panhypopituitarism, Tiger tail banding, Gait a... OMIM:300953
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocy... OMIM:619463
Huntington Disease-Like 1
Abnormal posturing, Bradykinesia, Gait disturbance, Gait ataxia, Dysmetria ORPHA:157941
Lig4 Syndrome
Acute leukemia, Abnormality of chromosome stability, Leukocytosis, Pancytopenia ORPHA:99812
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Hyperpigmentation of the skin, Azoospermia, Hepatocellular carcinoma, As... OMIM:235200
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Poems Syndrome
Abnormality of the endocrine system, Ascites, Respiratory insufficiency due to muscle weakness, S... ORPHA:2905
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Hepatomegaly, Thick hair, Recurrent infection of the gastrointestinal tract, Ataxia, S... OMIM:613489
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Abnormality of skin pigmentation, Bone marrow hypocellularity, Ataxia, Sparse hai... OMIM:616353
Hawkinsinuria
Hypothyroidism, Fine hair, Sparse hair ORPHA:2118
Waardenburg Syndrome
Premature graying of hair, Intestinal obstruction, Hypopigmented skin patches, Aganglionic megaco... ORPHA:3440
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Sézary Syndrome
Irregular hyperpigmentation, Nail dystrophy, Hepatomegaly, Lymphadenopathy, Neoplasm of the skin,... ORPHA:3162
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, A... ORPHA:251380
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Cardiofaciocutaneous Syndrome 4
Multiple lentigines, Alopecia of scalp, Decreased response to growth hormone stimulation test, Cu... OMIM:615280
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Enamel hypoplasia, Sparse hair OMIM:613576
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Muscle... ORPHA:848
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Poor head control, Inability to walk, Hirsutism, Ataxia, Sparse hair, Dysmetria OMIM:618087
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Pseudoprogeria Syndrome
Absent eyelashes, Absent eyebrow, Sparse eyebrow, Sparse hair, Alopecia ORPHA:2985
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly, Adrenal calcification ORPHA:75234
X-Linked Hypohidrotic Ectodermal Dysplasia
Anterior hypopituitarism, Sparse body hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Type ... ORPHA:181
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Anemia, Hamartomatous polyposis, Hematochezia, Juvenile gastr... OMIM:175050
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Broad-based gait, Synophrys, Hypothyroidism, Distal muscle weakness, Low anterio... ORPHA:391408
Piebald Trait
Aganglionic megacolon, Piebald skin depigmentation, Heterochromia iridis, White forelock, Neoplas... OMIM:172800
Trichothiodystrophy 8, Nonphotosensitive
Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Head titubation, Sparse hair OMIM:619691
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Abnormality of the nail, Curly hair, Sparse eyelashes, Sparse body... OMIM:602400
Adams-Oliver Syndrome 5
Inguinal hernia, Esophageal varix, Dystrophic toenail, Absent toenail, Portal vein thrombosis, Um... OMIM:616028
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia OMIM:613502
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Hyperpigmentation of the skin, Azoospermia, Splenomegaly, Lethargy, Hypo... OMIM:602390
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Inability to walk, Facial palsy, Dysphagia, Multiple joint contractures OMIM:128100
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du... OMIM:619079
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytosis, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Down Syndrome
Narrow palate, Delayed puberty, Aganglionic megacolon, Gastroesophageal reflux, Abnormality of th... ORPHA:870
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:616099
Lelis Syndrome
Nail dystrophy, Yellow nails, Furrowed tongue, Sparse lateral eyebrow, Abnormal toenail morpholog... ORPHA:140936
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis OMIM:612591
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Bloom Syndrome
Neoplasm of the skin, Hypopigmentation of the skin, Malignant genitourinary tract tumor, Neoplasm... ORPHA:125
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Fanconi Anemia, Complementation Group C
Anemia, Hyperpigmentation of the skin, Pancytopenia, Prolonged G2 phase of cell cycle, Reticulocy... OMIM:227645
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Hyperpigmentation of the skin, Sparse eyebrow, Sparse ... OMIM:104100
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Beta-Thalassemia Intermedia
Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased mean corpuscular volume, A... ORPHA:231222
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Sting-Associated Vasculopathy, Infantile-Onset
Nail dystrophy, Anemia, Periungual erythema, Paratracheal lymphadenopathy, Nailfold capillary tor... OMIM:615934
Elliptocytosis 2
Elliptocytosis, Hemolytic anemia, Reticulocytosis OMIM:130600
2Q32Q33 Microdeletion Syndrome
High palate, Decreased testicular size, Cleft palate, Sparse hair, Fine hair ORPHA:251019
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Gand Syndrome
Sparse hair OMIM:615074
Filippi Syndrome
Frontal hirsutism, Cryptorchidism, Hypertrichosis, Sparse hair OMIM:272440
Revesz Syndrome
Aplastic anemia, Nail dystrophy, Macrocytic anemia, Broad-based gait, Bone marrow hypocellularity... OMIM:268130
Intellectual Developmental Disorder, Autosomal Recessive 5
Broad-based gait, Synophrys, Achilles tendon contracture, Thick eyebrow, Sparse hair OMIM:611091
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h... OMIM:263300
Cap Polyposis
Hematochezia, Atrophic gastritis, Colorectal polyposis ORPHA:160148
Proteus Syndrome
Irregular hyperpigmentation, Enlarged kidney, Lipoma, Lymphangioma, Splenomegaly, Neoplasm, Thymu... ORPHA:744
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Bradykinesia, Titubation, Gait disturbance, Gait ataxia, Dysphagia ORPHA:225147
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse body hair, Sparse hair ORPHA:1810
Cholesteryl Ester Storage Disease
Steatorrhea, Cirrhosis, Anemia, Hepatomegaly, Periportal fibrosis, Bone-marrow foam cells, Esopha... OMIM:278000
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Lymphoma, Leu... ORPHA:39041
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion o... OMIM:618534
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, High anterior hairline, High palate, Sparse hair, Umbilical hern... ORPHA:284180
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Prolonged neonatal jaundice, Anterior hypopituitarism, Sparse hair ORPHA:631
Dermoodontodysplasia
Toenail dysplasia, Trichodysplasia, Sparse scalp hair, Sparse body hair, Melanocytic nevus, Finge... ORPHA:1660
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hirsutism, Synophrys, Dysphagia, Hypertrichosis, Splenomegaly, Hernia, Coarse hair OMIM:252930
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemia, Esophageal atresia, Pancytopenia, Reticulocytopenia, Tracheoesophageal ... OMIM:227646
Alg6-Cdg
Protein-losing enteropathy, Jaundice, Ataxia, Abnormality of the liver, Increased circulating and... ORPHA:79320
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi... OMIM:612714
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Patchy alopecia, Splenomegaly, Vitili... OMIM:615387
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Precocious puberty, Congenital posterior occ... ORPHA:79414
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Thyroiditis, Neutrop... ORPHA:436159
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normochromic anemia, Splenomegaly, Abnormal mast cell morphology, Normocytic anemia, Acute myeloi... ORPHA:98849
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Cirrhosis, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Eso... ORPHA:974
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Inability to walk, Respi... OMIM:617303
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Broad-based gait, Hypopigmentation of the skin, Iris hypopigmentation, ... ORPHA:411515
Johnson Neuroectodermal Syndrome
Absent eyelashes, Facial palsy, Multiple cafe-au-lait spots, Absent eyebrow, Cleft palate, Sparse... ORPHA:2316
Triosephosphate Isomerase Deficiency
Normocytic anemia, Chronic hemolytic anemia, Progressive muscle weakness, Jaundice, Cholelithiasi... OMIM:615512
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Hirsutism, Long eyelashes, Thick eyebrow, Low anterior hairline, Sparse hair, Ataxia OMIM:616819
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Generalized lipodystrophy, Sparse axillary hair, Congenital generalized lipod... OMIM:608154
Kasabach-Merritt Phenomenon
Hepatic hemangioma, Anemia, Respiratory distress, Capillary hemangioma, Neoplasm of the skin, Tuf... ORPHA:2330
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Lymphoma, Ascites... OMIM:615122
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Abnormality of the lymphatic system, Sparse scalp hair, Ascites, Absent eyebrow... ORPHA:69735
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Neoplasm of the skin, Actinic kerato... ORPHA:352731
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Delayed puberty, Truncal ataxia, Gait ataxia, Hypothyroidism, Sparse hair, Fine hair, Cryptorchidism OMIM:616817
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Pylo... OMIM:300048
Dominant Beta-Thalassemia
Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Jaundice... ORPHA:231226
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse hair OMIM:618535
Hypotrichosis 12
Sparse or absent eyelashes, Abnormal sweat gland morphology, Abnormality of the nail, Slow-growin... OMIM:615885
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal number of dense granules OMIM:614072
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Neoplasm of the skin, White hair, Hypopigmentation of the skin, Iris hy... ORPHA:79435
Scarf Syndrome
Hepatocellular adenoma, Inguinal hernia, Hypoplastic nipples, Low posterior hairline, Enamel hypo... ORPHA:3134
Fanconi Anemia, Complementation Group B
Aplastic anemia, Abnormality of chromosome stability, Thrombocytopenia OMIM:300514
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopeni... OMIM:613011
Hypotrichosis And Recurrent Skin Vesicles
Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla... OMIM:613102
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatomegaly, Generalized muscle weakness, Hirsutism, Pyloric stenosis, Splenom... OMIM:613327
Vici Syndrome
Abnormal posturing, Neutropenia, Hypopigmentation of hair, Hypopigmentation of the skin, High pal... OMIM:242840
Tetrasomy 12P
Sparse eyebrow, Sparse hair, Anal atresia, Abnormal soft palate morphology ORPHA:884
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Basal cell carcinoma, Nail dystrophy, Squamous cell carcinoma, Stomach cance... ORPHA:79501
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Anemia, Leuko... ORPHA:2070
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Beta-Thalassemia Major
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... ORPHA:231214
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hemophagocytosis, Decr... OMIM:619802
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma, Splenomegaly ORPHA:66661
Rapp-Hodgkin Syndrome
Nail dystrophy, Pili canaliculi, Decreased number of sweat glands, Small nail, Slow-growing hair,... OMIM:129400
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Flexion contracture, High palate, Dysphagia, Sparse hair OMIM:620001
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Gastroesophageal reflux, Respiratory distress, Ascites, Splenomegaly ORPHA:2414
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia, Red hair OMIM:620195
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Gastrointestinal hemorrhage, Cirrhosis, Intestinal polyposis, Gastrointest... ORPHA:774
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Iron def... OMIM:603909
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Anemia, Hepatomegaly, Cholestasis, Ascites, Camptodactyly, Hypothyroi... OMIM:608104
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Anal fissure, Recurrent tonsillitis, Lymphadenopathy, Crohn's disease, Acute pa... OMIM:618935
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Anemia, Colon cancer, Hematochezia, Intussusception, Du... OMIM:174900
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow, Bilateral cleft palate, Abnormal d... ORPHA:3253
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Nail dysplasia, Premature graying of hair, Nail dystrophy, Anemia, Gastrointestinal telangiectasi... OMIM:612199
Monosomy 22
Hypochromic microcytic anemia, Aplasia of the thymus, High palate, Synophrys, Sarcoma, Meningioma... ORPHA:96123
Oculocutaneous Albinism Type 1B
Basal cell carcinoma, Hypopigmentation of hair, Hypopigmentation of the skin, Squamous cell carci... ORPHA:79434
Glycosylphosphatidylinositol Biosynthesis Defect 25
Coarse hair, Ankle flexion contracture, Sparse hair OMIM:619985
Sialuria
Hepatomegaly, Inguinal hernia, Hypoplastic nipples, High palate, Hirsutism, Low posterior hairlin... OMIM:269921
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Menkes Disease
Poor head control, Brittle hair, Hypopigmentation of the skin, Sparse hair, Alopecia OMIM:309400
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Basal cell carcinoma, Hypopigmentation of hair, Hyper... ORPHA:79432
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Cardiomegaly, Hyperpigmentation of the skin, Hepatocellular carcinoma, P... ORPHA:465508
Hypotrichosis 13
Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology OMIM:615896
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypogonadotropic hypogonadism, Hypopigmentat... ORPHA:177910
Eem Syndrome
Sparse body hair, Abnormality of retinal pigmentation, Sparse scalp hair, Absent eyebrow ORPHA:1897
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Splenomegaly, Atroph... OMIM:616100
Hereditary Spherocytosis
Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Familial Pancreatic Carcinoma
Jaundice, Lymphadenopathy, Intestinal pseudo-obstruction, Peritoneal abscess, Breast carcinoma, M... ORPHA:1333
Rothmund-Thomson Syndrome Type 1
Nail dysplasia, Aplastic anemia, Sparse or absent eyelashes, Neoplasm of the skin, Hypopigmentati... ORPHA:221008
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Hepatomegaly, Pancreatitis, Abnormality of the nail, Loss of subcutaneous adipose ti... ORPHA:2348
Adams-Oliver Syndrome 6
Esophageal varix, Portal hypertension, Splenomegaly, Hypoplastic toenails, Hepatic fibrosis OMIM:616589
Carney Complex
Neoplasm of the stomach, Ductal carcinoma in situ, Neoplasm of the pancreas, Multiple lentigines,... ORPHA:1359
Oculoskeletodental Syndrome
Protein-losing enteropathy, Hepatomegaly, Elbow flexion contracture, Low posterior hairline, Cryp... OMIM:618440
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Pancreatic l... OMIM:235255
Dyskeratosis Congenita, Autosomal Dominant 2
Nail dysplasia, Premature graying of hair, Nail dystrophy, Aplastic anemia, Pancytopenia, White f... OMIM:613989
Acrofacial Dysostosis, Palagonia Type