Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
fragile histidine triad gene
Synonyms:
Fra14A2

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 Fhit 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Colorectal Cancer, Susceptibility To, 12
Carcinoma, Colorectal polyposis OMIM:615083
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia OMIM:610753
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Alopecia Universalis Congenita
Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis OMIM:203655
Candidiasis, Familial, 1
Chronic mucocutaneous candidiasis, Recurrent viral infections, Alopecia OMIM:114580
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Alopecia Areata 1
Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis OMIM:104000
Tumor Predisposition Syndrome 4
Stomach cancer, Glioma, Sarcoma, Meningioma, Breast carcinoma OMIM:609265
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia ORPHA:169095
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Alopecia ORPHA:505
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Whim Syndrome 2
Recurrent gingivitis, Chronic neutropenia, Severe infection OMIM:619407
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, Nail dystrophy, Ridged nail, T lymphocytopenia, Nail pits, Al... OMIM:601705
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... ORPHA:2722
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections, Neutrop... OMIM:616022
Myelolymphatic Insufficiency
Recurrent viral infections, Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutr... OMIM:310350
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Immunodeficiency 50
Recurrent urinary tract infections, Recurrent respiratory infections, Neutropenia, Lymphopenia OMIM:300988
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Sparse body hair, Alopecia OMIM:617294
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Kerion Celsi
Recurrent cutaneous abscess formation, Alopecia ORPHA:499
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Hypopigmentation of hair, Neutropenia ORPHA:90023
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... ORPHA:3361
Immunodeficiency 21
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Recu... OMIM:614172
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Spar... ORPHA:189
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Recurrent bact... OMIM:614868
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Lymphocytosis, Recurrent infections, Lymphoma, Sp... OMIM:614470
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade... OMIM:606719
L-Ferritin Deficiency
Alopecia OMIM:615604
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent lower respiratory tract infections,... OMIM:613501
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Myelodysplasia, Neutropenia OMIM:610738
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Recurrent infections, Recurrent respiratory infections, Reduced natur... OMIM:615214
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent candida infections, Neonatal sepsis, Neutropenia, Recurrent lower respiratory tract inf... ORPHA:169154
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis OMIM:246470
Monilethrix
Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia OMIM:158000
Marie Unna Hereditary Hypotrichosis
Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al... ORPHA:444
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Ovarian neoplasm, Squamous cell carcinoma, Sparse hair, Aplasia/Hypoplasia ... ORPHA:50944
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Recurrent infections, Recurrent sinusitis, Recurrent pneumonia, Recu... OMIM:616576
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Jejunal Atresia
Jejunal atresia OMIM:243600
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Recurrent otitis media, Recurrent lower respiratory tract infections... OMIM:615559
Pili Torti
Brittle hair, Abnormality of the nail, Abnormality of hair texture, Abnormal eyebrow morphology, ... ORPHA:2889
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Nail dystrophy, Yellow nails, Ridged nail, Actinic keratosis, Oropharyngeal squamous cell carcino... OMIM:614564
Li-Fraumeni Syndrome
Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma... OMIM:151623
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Refractory anemia with ringed siderobl... OMIM:619523
Hypotrichosis 5
Absent pubic hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse eyelashes, Th... OMIM:612841
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du... OMIM:619079
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... OMIM:602032
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Anemia, Intermittent thrombocytopenia, Recurrent sinopulmonary ... OMIM:616740
Porphyria Cutanea Tarda
Onycholysis, Hepatocellular carcinoma, Facial hypertrichosis, Alopecia OMIM:176100
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Crandall Syndrome
Brittle hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili torti, Alopecia ORPHA:202
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Neutropenia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Refrac... ORPHA:75564
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Dystrophic fingernails, Recurrent respiratory infections, Dystrophic toenail, Sparse scalp hair, ... ORPHA:1882
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Alopecia totalis OMIM:302000
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Nail dystrophy, Alopecia OMIM:616487
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Persistent EBV vir... OMIM:615387
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Neutropenia OMIM:300299
Cronkhite-Canada Syndrome
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Dystrophic fingernails, Intestinal polyp... ORPHA:2930
Nut Midline Carcinoma
Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom... ORPHA:443167
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Anemia, Toenail dysplasia, Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenail... ORPHA:2325
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Onychotrichodysplasia And Neutropenia
Trichorrhexis nodosa, Hypoplastic fingernail, Curly eyelashes, Recurrent infections, Lymphocytosi... OMIM:258360
Adult Idiopathic Neutropenia
Recurrent infections, Helicobacter pylori infection, Lymphopenia, Monocytopenia, Monocytosis, Rec... ORPHA:2688
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hodgkin lymphoma, Splenomegaly, Reduced natural killer cell count, Neutropenia, T-cell lymphoma, ... ORPHA:158057
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hepatomegaly, Lymphoma ORPHA:100025
Ectodermal Dysplasia 7, Hair/Nail Type
Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse... OMIM:614929
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Recurrent infections, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopo... OMIM:615285
Whim Syndrome 1
Verrucae, Recurrent upper respiratory tract infections, Recurrent bacterial infections, Neutropenia OMIM:193670
Trimethylaminuria
Recurrent pneumonia, Anemia, Splenomegaly, Neutropenia OMIM:602079
Fanconi Anemia, Complementation Group G
Anemia, Myelodysplasia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Single lineage m... ORPHA:98826
Specific Granule Deficiency 2
Nail dysplasia, Sepsis, Recurrent otitis media, Anemia, Hirsutism, Fragile nails, Recurrent pneum... OMIM:617475
Clouston Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Small nail, Absent pubic hair, Slow-growing hair, S... OMIM:129500
Cheilitis Glandularis
Abnormal salivary gland morphology, Squamous cell carcinoma, Neoplasm ORPHA:1221
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Recurrent infections, Chronic ... OMIM:618282
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Abnormal fingernail morphology, Abnormal toenail morphology, Fine hair,... ORPHA:248
Ectodermal Dysplasia-Syndactyly Syndrome 1
Coarse hair, Small nail, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Hypoplastic toenai... OMIM:613573
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Myelodysplasia... ORPHA:231401
Classic Mycosis Fungoides
Abnormality of the nail, Neoplasm of the skin, Abnormal lymphocyte morphology, Lymphoma, Splenome... ORPHA:2584
Oliver-Mcfarlane Syndrome
Alopecia, Long eyebrows, Sparse hair, Long eyelashes OMIM:275400
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infe... OMIM:613502
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Monilethrix
Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Ridged fingernail, Sparse hair, Fingernail dysplasia, Alopecia ORPHA:2251
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Recurrent ear infections, Hemangioma, Acute lymphoblasti... ORPHA:486
Disabling Pansclerotic Morphea Of Childhood
Recurrent infections, Neutropenia, Squamous cell carcinoma of the skin, Lymphopenia OMIM:620443
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Brittle hair, Absent eyelashes, Absent eyebrow, Sparse body hair, Congenital onyc... ORPHA:2890
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Neutropenia, Recurrent infections, B lymphocytopenia, Recurrent pneumon... OMIM:150550
Quinquaud Folliculitis Decalvans
Patchy alopecia, Abnormal hair morphology, Scarring alopecia of scalp ORPHA:346
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoplasia of the thymus, Recurrent viral infections, Severe B lymphoc... OMIM:603554
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent respirato... OMIM:618986
Diarrhea 5, With Tufting Enteropathy, Congenital
Crypt hyperplasia, Villous atrophy OMIM:613217
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Pancreatic adenocarcinoma, Neoplasm of the rectum, Squamous cell carcinoma,... ORPHA:454840
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Severe Epstein Barr virus infection, Hemophagocytosis, Recurrent pharyngitis, Pa... OMIM:308240
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Recurrent viral infections, Thrombocytopenia, Alopecia OMIM:617443
Systemic Lupus Erythematosus 17
Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia, Alopecia OMIM:301080
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Pseudopelade Of Brocq
Abnormal hair morphology, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:129
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Recurrent candida infections, Recurrent Staphylococcus aureus infect... ORPHA:572
Erythrokeratodermia Variabilis
Abnormal hair morphology, Abnormality of the nail, Neoplasm of the skin, Generalized hirsutism, A... ORPHA:317
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Agammaglobulinemia 10, Autosomal Dominant
Recurrent sinusitis, Transient neutropenia, Recurrent respiratory infections, Meningitis, Absent ... OMIM:619707
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Alopecia OMIM:104100
X-Linked Agammaglobulinemia
Sepsis, Neutropenia, Anemia, Recurrent pneumonia, Thrombocytopenia, Neoplasm, Recurrent cutaneous... ORPHA:47
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Steatorrhea, Fat malabsorption OMIM:613291
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Familial Adenomatous Polyposis 1
Fibroma, Osteoma, Duodenal polyposis, Adrenocortical adenoma, Carcinoma, Odontoma, Papillary thyr... OMIM:175100
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Congenital Short Bowel Syndrome
Steatorrhea, Abnormal peristalsis, Congenital shortened small intestine, Intestinal malrotation, ... OMIM:615237
Cortisone Reductase Deficiency 1
Hirsutism, Alopecia OMIM:604931
Attenuated Familial Adenomatous Polyposis
Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c... ORPHA:220460
Fibrodysplasia Ossificans Progressiva
Anemia, Alopecia ORPHA:337
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Sparse hair, Alopecia ORPHA:3363
Omenn Syndrome
Sepsis, Anemia, Abnormal lymphocyte morphology, Lymphoma, Leukocytosis, Splenomegaly, Aplasia/Hyp... ORPHA:39041
Alopecia Totalis
Alopecia of scalp, Onycholysis, Fragile nails, Trachyonychia, Nail pits, Alopecia totalis ORPHA:700
Gardner Syndrome
Neoplasm of the pancreas, Lipoma, Odontoma, Ampulla of Vater carcinoma, Desmoid tumors, Multiple ... ORPHA:79665
Bare Lymphocyte Syndrome, Type Ii
Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Chronic mucocut... OMIM:209920
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Idiopathic Trachyonychia
Nail dystrophy, Toenail dysplasia, Thin nail, Ridged nail, Abnormality of the periungual region, ... ORPHA:79153
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Hereditary Mixed Polyposis Syndrome
Hyperplastic colonic polyposis, Thyroid carcinoma, Neoplasm of the rectum, Colorectal polyposis, ... ORPHA:157794
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Recurrent staphylococca... OMIM:607676
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Pseudoprogeria Syndrome
Absent eyelashes, Absent eyebrow, Sparse eyebrow, Sparse hair, Alopecia ORPHA:2985
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Recurrent infections, Thrombocytopenia, Leukopenia, Neutr... OMIM:229050
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased CD4:CD8 ratio, B lymphocytopenia... OMIM:606367
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent oral herpes, Recurrent viral upper respiratory tract infections... OMIM:615577
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the tongue, Persistence of ... OMIM:618849
Flynn-Aird Syndrome
Alopecia of scalp, Alopecia OMIM:136300
Gist-Plus Syndrome
Intussusception, Intestinal polyposis, Gastrointestinal stroma tumor OMIM:175510
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Alopecia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemo... OMIM:304790
Sézary Syndrome
Nail dystrophy, Neoplasm of the skin, Abnormal lymphocyte morphology, Lymphoma, Splenomegaly, Cut... ORPHA:3162
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Nail dystrophy, Alopecia totalis OMIM:212360
Diarrhea 9
Villous atrophy OMIM:618168
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Alopecia ORPHA:79397
Dyskeratosis Congenita, Autosomal Dominant 1
Premature graying of hair, Aplastic anemia, Nail dystrophy, Anemia, Ridged nail, Increased mean c... OMIM:127550
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse body hair, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology ORPHA:103907
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hemophagocytosis, ... OMIM:301078
Secondary Short Bowel Syndrome
Steatorrhea, Aganglionic megacolon, Small intestinal dysmotility, Cholestasis, Enterocolitis, Vol... ORPHA:95427
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Nail dystrophy, Recurrent otitis media, Sepsis, Recurrent pharyngitis, Abnormality of the periung... ORPHA:293978
Tumor Predisposition Syndrome 2
Ductal carcinoma in situ, Acute myeloid leukemia, Uveal melanoma, Juvenile type ovarian granulosa... OMIM:619975
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia OMIM:606843
Dyskeratosis Congenita, Digenic
Basal cell carcinoma, Nail dystrophy, Anemia, Recurrent infections, Squamous cell carcinoma of th... OMIM:620040
Blue Rubber Bleb Nevus
Rectal prolapse, Cerebellar medulloblastoma, Hemangioma, Volvulus, Intestinal bleeding, Abnormali... OMIM:112200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Hereditary Mucoepithelial Dysplasia
Fine hair, Recurrent respiratory infections, Sparse hair, Alopecia ORPHA:1839
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Microvillus inclusions, Villous atrophy OMIM:619445
Cartilage-Hair Hypoplasia
Susceptibility to chickenpox, Basal cell carcinoma, Impaired lymphocyte transformation with phyto... OMIM:250250
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Sparse eyelashes, Sparse eyebrow, Alopecia OMIM:615704
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Nicolaides-Baraitser Syndrome
Curly eyelashes, Highly arched eyebrow, Long eyelashes, Abnormal hair pattern, Sparse hair, Alopecia ORPHA:3051
Lichen Planopilaris
Neoplasm of the oral cavity, Onycholysis, Abnormal fingernail morphology, Alopecia ORPHA:525
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Nail dysplasia, Nail dystrophy, Scarring alopecia of scalp, Sparse eyelashes, Sparse eyebrow, Alo... OMIM:612843
Familial Adenomatous Polyposis
Lipoma, Odontoma, Pituitary adenoma, Neoplasm of the gastrointestinal tract, Desmoid tumors, Duod... ORPHA:733
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Keratoderma Hereditarium Mutilans
Abnormality of the nail, Abnormal toenail morphology, Alopecia ORPHA:494
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Inclusion body fibromatosis, Alopecia ORPHA:88630
Felty Syndrome
Sepsis, Anemia, Recurrent pharyngitis, Recurrent infections, Recurrent urinary tract infections, ... ORPHA:47612
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,... ORPHA:263665
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, B lymp... ORPHA:231154
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Alopecia of scalp, Absent pubic hair, Sparse eyebrow, Absent axillary hair, Congenital alopecia t... ORPHA:2269
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia of scalp, Nail dystrophy, Squamous cell carcinoma, Alopecia OMIM:618373
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Recurrent infections, Reticulocytopenia, Thrombocytopenia, Neutropenia ORPHA:88
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Neoplasm of the skin, Neoplasm of the lung, Melanoma, Abnormal fingernail morphology, Sparse hair... ORPHA:659
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Abnormality of the nail, Absent eyelashes, Sparse scalp hair, Ab... OMIM:607823
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Hemophagocytic Syndrome Associated With An Infection
Severe cytomegalovirus infection, Anemia, Hemophagocytosis, Abnormal natural killer cell count, P... ORPHA:158048
Keutel Syndrome
Recurrent respiratory infections, Recurrent sinusitis, Recurrent otitis media, Alopecia ORPHA:85202
Alopecia Universalis
Abnormality of the nail, Absent eyelashes, Patchy alopecia, Absent eyebrow, Alopecia universalis ORPHA:701
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Rectal abscess, B lymphocytopenia, Recu... OMIM:601495
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Alopecia ORPHA:69735
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, T lymphocytopenia, Leukopenia, Lymphopenia, Reduced... ORPHA:443811
Mungan Syndrome
Hypoperistalsis, Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum OMIM:611376
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:603552
Mucoepithelial Dysplasia, Hereditary
Nail dysplasia, Nail dystrophy, Chronic monilial nail infection, Chronic mucocutaneous candidiasi... OMIM:158310
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow, Dystrophic toenail, Synophrys, Spa... ORPHA:3253
Epidermolysis Bullosa, Junctional 1A, Intermediate
Nail dystrophy, Patchy alopecia, Fragile nails OMIM:226650
Autosomal Agammaglobulinemia
Sepsis, Recurrent infections, Verrucae, Recurrent respiratory infections, Meningitis, Neutropenia ORPHA:33110
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:620481
Dyskeratosis Congenita, Autosomal Dominant 3
Nail dysplasia, Premature graying of hair, Nail dystrophy, Aplastic anemia, Neutropenia, Anemia, ... OMIM:613990
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Nail dystrophy, Sparse hair, Alopecia OMIM:242300
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Brittle hair, Recurrent infections, Neoplasm of the skin, Tiger tail bandin... OMIM:616395
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Protein-losing enteropathy, Villous atrophy, Cirrhosis, Hepatomegaly, Hepatic fibros... OMIM:602579
Agammaglobulinemia, X-Linked
Sepsis, Recurrent otitis media, Anemia, Pyoderma, Recurrent lower respiratory tract infections, R... OMIM:300755
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Chronic mucocutaneous candidi... OMIM:615816
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Nail dystrophy, Anemia, Hamartomatous polyposis, Gastrointestinal carcinoma, Alop... OMIM:175500
Hypomelanosis Of Ito
Alopecia OMIM:300337
Turcot Syndrome With Polyposis
Intestinal polyposis, Cerebellar medulloblastoma, Pituitary adenoma, Hematochezia, Desmoid tumors... ORPHA:99818
Congenital Tufting Enteropathy
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec... ORPHA:92050
Abnormal Hair, Joint Laxity, And Developmental Delay
Trichorrhexis nodosa, Recurrent otitis media, Small nail, Sparse lateral eyebrow, Fragile nails, ... OMIM:261990
Bloom Syndrome
Neoplasm of the skin, Malignant genitourinary tract tumor, Severe varicella zoster infection, Neo... ORPHA:125
Mitchell-Riley Syndrome
Biliary atresia, Meckel diverticulum, Cholestasis, Intestinal malrotation, Absent gallbladder, Ac... OMIM:615710
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Intestinal hypoplasia, Tracheoesophageal fistula, Intestinal malro... OMIM:601346
Mpi-Cdg
Decreased liver function, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hepatomegaly, ... ORPHA:79319
Pachyonychia Congenita
Nail dystrophy, Onychogryposis of toenails, Onychogryposis of fingernail, Fingernail dysplasia, P... ORPHA:2309
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Sepsis, Recurrent otitis media, Recurrent respiratory infections, Pa... OMIM:614700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Recurrent infections, Anemia, Neutropenia OMIM:617056
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Congenital abnormal hair pattern, Atrichia, Alopecia ORPHA:1867
Dyskeratosis Congenita
Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Anemia, Aplastic/hypoplastic... ORPHA:1775
Localized Junctional Epidermolysis Bullosa
Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Dystrophic toenail, Sparse pu... ORPHA:251393
Griscelli Syndrome Type 2
Premature graying of hair, Hemophagocytosis, Hypopigmentation of hair, Pancytopenia, Splenomegaly... ORPHA:79477
Refractory Celiac Disease
Protein-losing enteropathy, Elevated circulating hepatic transaminase concentration, Jejunitis, L... ORPHA:398063
Alg6-Cdg
Abnormality of the liver, Jaundice, Protein-losing enteropathy, Macroglossia ORPHA:79320
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia OMIM:277175
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Low posterior hairline, T lymphocytopenia, Recurrent viral infections, ... ORPHA:2959
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Nail dystrophy, Anemia, Squamous cell carcinoma, Alopecia OMIM:226600
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Recurrent infections, Schistocytosis, Long eyelashes, Recurrent infection of the gastroin... OMIM:301110
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, T-cell lymphoma, Intestinal malrotation, Enterocolitis, He... OMIM:243150
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Hypopigmentation of hair, Silver-gray hair, Recurrent infections, Recur... OMIM:214500
Incontinentia Pigmenti
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Ridged nail, Breast aplasia, Onychogryposis, H... OMIM:308300
Renpenning Syndrome
Abnormal hairshaft morphology, Thin eyebrow, Alopecia ORPHA:3242
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Nail dystrophy ORPHA:1366
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Alopecia ORPHA:177
Kasabach-Merritt Phenomenon
Hepatic hemangioma, Anemia, Capillary hemangioma, Neoplasm of the skin, Tufted angioma, Reticuloc... ORPHA:2330
Pancreatic Colipase Deficiency
Steatorrhea, Fat malabsorption, Cholelithiasis ORPHA:309108
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Neutropenia ORPHA:2643
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi... ORPHA:79302
Alg1-Cdg
Decreased liver function, Protein-losing enteropathy, Abnormality of the gastrointestinal tract ORPHA:79327
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Rapp-Hodgkin Syndrome
Nail dystrophy, Recurrent otitis media, Pili canaliculi, Decreased number of sweat glands, Small ... OMIM:129400
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia OMIM:215100
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Nail dystrophy, Sepsis, Neutropenia, Iron deficiency anemia, Reduced... ORPHA:37042
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Anemia, Sepsis, Neutropenia ORPHA:289916
Immunodeficiency 55
Recurrent infections, Lymphopenia, Absent natural killer cells, Myelodysplasia, Neutropenia OMIM:617827
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Kury-Isidor Syndrome
Recurrent otitis media, Hypertrichosis, Alopecia OMIM:619762
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Carcinoma, Carcinoid tumor, Pituitary adenoma, Parathyroid adenoma, R... OMIM:610755
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Nail dystrophy, Coarse hair, Brittle hair ORPHA:75389
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Intrahepatic cholestasis, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating he... OMIM:607765
Cyclic Neutropenia
Perianal abscess, Sepsis, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocytopenia, Op... ORPHA:2686
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hematological neopl... ORPHA:98850
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis, Hepatomegaly ORPHA:1759
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Chronic mucocutaneous candidiasis, Recurrent upper respiratory tract infections, Cutaneous absces... OMIM:619752
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Bathing Suit Ichthyosis
Nail dystrophy, Sparse hair, Alopecia ORPHA:100976
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Hematochezia,... ORPHA:2070
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Dyskeratosis Congenita, X-Linked
Premature graying of hair, Nail dystrophy, Anemia, Acute myeloid leukemia, Squamous cell carcinom... OMIM:305000
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa... ORPHA:79076
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Chronic oral candidiasis, Absent platelet dense granules, Recurrent ... OMIM:608233
Pelger-Huet Anomaly
Recurrent otitis media, Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia,... OMIM:169400
Adult Syndrome
Breast hypoplasia, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, Sparse scalp ... ORPHA:978
Hemochromatosis, Type 1
Hepatocellular carcinoma, Splenomegaly, Alopecia OMIM:235200
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Autoimmune Polyendocrinopathy Type 1
Abnormal fingernail morphology, Chronic mucocutaneous candidiasis, Alopecia ORPHA:3453
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Chronic mucocutaneous candidiasis, Asplenia, Thymoma, Alopecia OMIM:269200
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Recurrent bacterial infections, Neutropenia OMIM:603585
Rothmund-Thomson Syndrome
Nail dysplasia, Aplastic anemia, Basal cell carcinoma, Anemia, Squamous cell carcinoma, Small nai... ORPHA:2909
Mucopolysaccharidosis-Plus Syndrome
Sepsis, Anemia, Hirsutism, Low posterior hairline, Synophrys, Long eyelashes, Recurrent bronchopu... OMIM:617303
Fibrodysplasia Ossificans Progressiva
Hamartoma, Alopecia OMIM:135100
Congenital Ichthyosiform Erythroderma
Abnormality of the nail, Alopecia ORPHA:79394
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Small nail, Recurrent ear infections, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse... ORPHA:544488
Whim Syndrome
Sepsis, Neutropenia, Abnormal neutrophil morphology, Cervix cancer, Verrucae, Recurrent pneumonia... ORPHA:51636
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Small nail OMIM:614219
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hamartomatous stomach polyps, Rectal polyp... ORPHA:2929
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Sparse hair, Alopecia OMIM:616353
Hemochromatosis, Type 3
Neutropenia, Anemia, Lymphopenia OMIM:604250
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Johnson Neuroectodermal Syndrome
Absent eyelashes, Absent eyebrow, Sparse hair, Alopecia ORPHA:2316
Chylomicron Retention Disease
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes OMIM:246700
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Thick hair, Sparse eyelashes, Sparse eyebrow, Splenomegaly, Sparse hair, Alopecia OMIM:607626
Colonic Atresia
Peptic ulcer, Duodenal stenosis, Colonic atresia ORPHA:1198
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic oral candidiasis, Nail dystrophy, Chronic mucocutaneous candidiasis, Asplenia, Alopecia u... OMIM:240300
Duodenal Atresia
Duodenal atresia OMIM:223400
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Alopecia ORPHA:79242
Barth Syndrome
Recurrent infections in infancy and early childhood, Hypochromic microcytic anemia, Recurrent bro... OMIM:302060
Adams-Oliver Syndrome
Hypoplastic fingernail, Aplastic/hypoplastic toenail, Absent fingernail, Leukopenia, Thrombocytop... ORPHA:974
Poikiloderma With Neutropenia
Nail dystrophy, Recurrent otitis media, Recurrent bronchopulmonary infections, Low posterior hair... OMIM:604173
Olmsted Syndrome 1
Nail dysplasia, Nail dystrophy, Sparse hair, Subungual hyperkeratosis, Alopecia universalis OMIM:614594
Olmsted Syndrome, X-Linked
Alopecia totalis, Subungual hyperkeratosis OMIM:300918
Olmsted Syndrome 2
Alopecia universalis, Woolly hair, Sparse hair OMIM:619208
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia OMIM:612079
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ... OMIM:214950
Incontinentia Pigmenti
Hypoplastic fingernail, Abnormal hair morphology, Abnormality of the nail, Dystrophic toenail, Br... ORPHA:464
Trigonocephaly 1
Meckel diverticulum, High, narrow palate OMIM:190440
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Sepsis, Neonatal sepsis, Anemia, Erythroid hypoplasia, Recurrent lower respirat... OMIM:612541
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Sepsis, Pneumocystis carinii pneumonia, Recurrent lower respiratory tra... OMIM:308230
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Hypoplastic fingernail, Hyperconvex fingernails ORPHA:257
Aspergillosis
Invasive pulmonary aspergillosis, Unusual CNS infection, Hematological neoplasm, Eosinophilia, Me... ORPHA:1163
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Villous atrophy OMIM:614328
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Rothmund-Thomson Syndrome Type 1
Nail dysplasia, Aplastic anemia, Basal cell carcinoma, Anemia, Sparse or absent eyelashes, Squamo... ORPHA:221008
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Nail dystrophy, Sepsis, Anemia, Recurrent infections, Alopecia, Squamous cell carcinoma of the sk... ORPHA:79396
Flynn-Aird Syndrome
Alopecia ORPHA:2047
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Alopecia universalis, Absent fingernail, Anonychia OMIM:609638
Trichotillomania
Alopecia OMIM:613229
Congenital Enterovirus Infection
Sepsis, Anemia, Abnormal macrophage morphology, Leukocytosis, Leukopenia, Thrombocytopenia, Menin... ORPHA:292
Monosomy 18P
Low posterior hairline, Alopecia ORPHA:1598
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227990
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal telangiectas... ORPHA:90291
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Basal cell carcinoma, Nail dystrophy, Squamous cell carcinoma, Absent ... OMIM:268400
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Protein-losing enteropathy, Cholestasis, Hepatomegaly OMIM:608104
Dyskeratosis Congenita, Autosomal Dominant 2
Nail dysplasia, Premature graying of hair, Nail dystrophy, Aplastic anemia, Pancytopenia, White f... OMIM:613989
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Abnormal hair morphology, Thin nail, Small nail OMIM:242100
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Nail dystrophy, Woolly hair, Sparse eyelashes, Sparse eyebrow, Alopecia OMIM:605676
Mandibulofacial Dysostosis With Alopecia
Sparse eyelashes, Alopecia OMIM:616367
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Rothmund-Thomson Syndrome Type 2
Nail dysplasia, Aplastic anemia, Basal cell carcinoma, Anemia, Sparse or absent eyelashes, Squamo... ORPHA:221016
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, Recurrent lower respiratory tract infections, B lymphocytopenia, Reticulocytopenia, Leuko... ORPHA:508542
Bone Marrow Failure Syndrome 3
Aplastic anemia, Nail dystrophy, Anemia, Acute myeloid leukemia, Small nail, Recurrent infections... OMIM:617052
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Fragile nails, Sparse hair, Alopecia OMIM:242150
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Alopecia ORPHA:93552
Oculocerebrocutaneous Syndrome
Exostoses, Abnormal fingernail morphology, Alopecia ORPHA:1647
Mixed Connective Tissue Disease
Leukopenia, Splenomegaly, Meningitis, Hemolytic anemia, Alopecia ORPHA:809
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Alopecia OMIM:137940
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Fine hair, Alopecia ORPHA:228390
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis OMIM:616744
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Gomez-Lopez-Hernandez Syndrome
Alopecia OMIM:601853
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hirsutism, Alopecia OMIM:615830
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Supernumerary nipple, Alopecia ORPHA:3224
Chédiak-Higashi Syndrome
Anemia, Hemophagocytosis, Hypopigmentation of hair, Pancytopenia, Recurrent infections, Abnormal ... ORPHA:167
Developmental And Epileptic Encephalopathy 66
Neutropenia, Anemia, Synophrys OMIM:618067
Gapo Syndrome
Hemangioma, Sparse eyelashes, Sparse eyebrow, Early balding, Alopecia ORPHA:2067
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati... ORPHA:79303
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absent circulating B ce... OMIM:619705
Bresek Syndrome
Alopecia ORPHA:85284
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Basal cell carcinoma, Absent eyelashes, Squamous cell carcinoma of the... ORPHA:363618
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Recurrent infections, Persistence of hemoglobin F, ... OMIM:260400
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Lymphoma, Thrombocytosis, Alopecia OMIM:212750
Encephalocraniocutaneous Lipomatosis
Lipoma, Astrocytoma, Multiple central nervous system lipomas, Subcutaneous lipoma, Alopecia OMIM:613001
Schimmelpenning-Feuerstein-Mims Syndrome
Hemangioma, Basal cell carcinoma, Alopecia OMIM:163200
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Anemia, Splenomegaly, Neutropenia ORPHA:79312
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Sepsis, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pa... ORPHA:811
H Syndrome
Recurrent pharyngitis, Abnormal eyebrow morphology, Hepatosplenomegaly, Histiocytosis, Microcytic... ORPHA:168569
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227982
Cog8-Cdg
Protein-losing enteropathy, Elevated circulating hepatic transaminase concentration ORPHA:95428
Fusariosis
Lung abscess, Neutropenia, Lymphopenia, Invasive fungal infection, Onychomycosis, Granuloma, Abno... ORPHA:228119
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Visceral Myopathy 1
Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Intestinal pseudo-obstruc... OMIM:155310
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Pancytopenia, Recurrent infections, Thrombocytopenia, Lymphop... OMIM:242900
Dextrocardia
Meckel diverticulum, Intestinal malrotation, Neuroblastoma ORPHA:1666
Bartsocas-Papas Syndrome
Alopecia totalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Hypoplastic toen... ORPHA:1234
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Colitis, Chronic hepatitis, Villous atrophy OMIM:614602
Biotinidase Deficiency
Recurrent viral infections, Recurrent candida infections, Recurrent fungal infections, Alopecia ORPHA:79241
Mogs-Cdg
Hirsutism, Long eyelashes, Hepatosplenomegaly, Thrombocytopenia, Fair hair, Alopecia ORPHA:79330
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Alopecia, Absent eyelashes, Absent eyebrow, Small nail ORPHA:166035
Leigh Syndrome
Anemia, Neutropenia, Frontal hirsutism, Severe viral infection, Hypertrichosis, Alopecia ORPHA:506
Acute Promyelocytic Leukemia
Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Chronic infection, Neutropenia ORPHA:520
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia ORPHA:412057
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hirsutism, Renal cell carcinoma, Pituitary adenoma, Meningioma, Neuroendocrine neoplasm, Alopecia ORPHA:189427
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal toenail morphology, Sparse hair, Alopecia ORPHA:1005
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Alopecia OMIM:620651
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Protein-losing enteropathy, Jaundice, Abnormal intrahepatic bile duc... ORPHA:731
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Functional abnormality of the gastrointestinal tract, Disseminated c... ORPHA:90362
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormal proportion of naive CD4 T cells, Recurrent infections, Decreased proportion of n... ORPHA:1830
Johanson-Blizzard Syndrome
Abnormal hair pattern, Anemia, Alopecia ORPHA:2315
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Microvillus Inclusion Disease
Abnormal small intestinal villus morphology, Villous atrophy ORPHA:2290
Cat Eye Syndrome
Rectal fistula, Anal stenosis, Biliary atresia, Meckel diverticulum, Anal atresia, Intestinal mal... OMIM:115470
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Insulin-Resistance Syndrome Type B
Hirsutism, Lymphoma, Multiple myeloma, Hodgkin lymphoma, Leukopenia, Thrombocytopenia, Alopecia ORPHA:2298
Acrodermatitis Enteropathica
Ridged nail, Abnormality of the nail, Abnormal eyebrow morphology, Ridged fingernail, Paronychia,... ORPHA:37
Trichothiodystrophy
Alopecia of scalp, Dystrophic fingernails, Anemia, Squamous cell carcinoma, Ridged nail, Brittle ... ORPHA:33364
Porphyria, Congenital Erythropoietic
Loss of eyelashes, Absent eyebrow, Thrombocytopenia, Splenomegaly, Hemolytic anemia, Reduced eryt... OMIM:263700
Mandibuloacral Dysplasia
Hypoplastic fingernail, Sparse hair, Alopecia ORPHA:2457
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Sparse hair, Brittle hair OMIM:608612
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair, Neutropenia OMIM:618253
Satoyoshi Syndrome
Alopecia universalis, Sparse or absent eyelashes, Abnormal hair morphology ORPHA:3130
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Phakomatosis Pigmentokeratotica
Basal cell carcinoma, Rhabdomyosarcoma, Pheochromocytoma, Renal transitional cell carcinoma, Patc... ORPHA:2874
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Alopecia OMIM:253270
Macs Syndrome
Sparse eyebrow, Sparse hair, Alopecia OMIM:613075
Short Syndrome
Sparse hair, Alopecia ORPHA:3163
Developmental Delay, Hypotonia, And Impaired Language
Recurrent pneumonia, Neutropenia OMIM:620012
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Adrenoleukodystrophy
Alopecia OMIM:300100
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal duodenum morphology, Abnormal stomach morphology... ORPHA:512
Congenital Disorder Of Glycosylation, Type Im
Sparse eyelashes, Sparse eyebrow, Alopecia OMIM:610768
Hallermann-Streiff Syndrome
Abnormality of hair texture, Rib exostoses, Sparse eyelashes, Sparse body hair, Sparse eyebrow, S... ORPHA:2108
Neonatal Lupus Erythematosus
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia ORPHA:398124
Revesz Syndrome
Aplastic anemia, Nail dystrophy, Macrocytic anemia, Nail pits, Ridged fingernail, Sparse hair, Fi... OMIM:268130
Wiskott-Aldrich Syndrome
Acute leukemia, Sepsis, Anemia, Abnormal eosinophil morphology, Lymphopenia, Lymphoma, Hypoplasia... ORPHA:906
Diamond-Blackfan Anemia 7
Recurrent otitis media, Macrocytic anemia, Increased mean corpuscular volume, Recurrent infection... OMIM:612562
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Sepsis In Premature Infants
Neonatal sepsis, Anemia, Leukocytosis, Invasive fungal infection, Severe infection, Thrombocytope... ORPHA:90051
Atypical Werner Syndrome
Neoplasm of the oral cavity, Neoplasm of the thyroid gland, Premature graying of hair, Renal neop... ORPHA:79474
Neutral Lipid Storage Disease With Ichthyosis
Abnormal granulocyte morphology, Alopecia ORPHA:98907
Vici Syndrome
Hypopigmentation of hair, Chronic mucocutaneous candidiasis, T lymphocytopenia, Recurrent viral i... OMIM:242840
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Breast hypoplasia, Alopecia of scalp, Abnormal eyebrow morphology, Sparse eyebrow, Sparse pubic h... ORPHA:2232
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Fat mala... ORPHA:71
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis, Thrombocytopenia, Normochromic anemia OMIM:618775
Severe Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Sepsis, Pyoderma, Anemia, Squamous cell carcinoma, Abnormality of the nail, Recur... ORPHA:79404
Giant Cell Arteritis
Meningitis, Recurrent pharyngitis, Alopecia ORPHA:397
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Anal atresia, Tracheoesophageal fistula, Intestinal malrotation, Volvulus,... ORPHA:210122
Polyendocrine-Polyneuropathy Syndrome
Alopecia ORPHA:453533
Lethal Acantholytic Erosive Disorder
Absent hair, Absent eyelashes, Absent fingernail, Absent eyebrow, Absent toenail, Congenital alop... ORPHA:158687
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Neutropenia, Anemia, Small nail OMIM:614520
Frontonasal Dysplasia 2
Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia totalis, Fine hair OMIM:613451
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Albinism, Splenomegaly, Neutropenia OMIM:617050
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology ORPHA:2847
Gapo Syndrome
Nail dysplasia, Breast hypoplasia, Hypoplastic nipples, Sparse eyelashes, Sparse eyebrow, Sparse ... OMIM:230740
Propionic Acidemia
Pancytopenia, Thrombocytopenia, Anemia, Neutropenia OMIM:606054
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia, Neutropenia OMIM:250940
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Protein-losing enteropathy, High palate, Cleft palate, Hepatic failure OMIM:235255
X-Linked Dominant Chondrodysplasia Punctata
Scarring alopecia of scalp, Abnormality of the nail, Patchy alopecia, Sparse eyelashes, Sparse ey... ORPHA:35173
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Ane Syndrome
Alopecia ORPHA:157954
Linear Nevus Sebaceus Syndrome
Cavernous hemangioma, Adenoma sebaceum, Alopecia ORPHA:2612
Oculoskeletodental Syndrome
Macroglossia, Protein-losing enteropathy, Hepatomegaly OMIM:618440
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Nestor-Guillermo Progeria Syndrome
Nail dystrophy, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Alopecia OMIM:614008
3-Methylglutaconic Aciduria, Type Viib
Recurrent infections, Recurrent pneumonia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:616271
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Pancytopenia, Recurrent infections, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:277380
X-Linked Intellectual Disability, Nascimento Type
Nail dystrophy, Recurrent ear infections, Lumbar hypertrichosis, Low posterior hairline, Synophry... ORPHA:163956
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Portal fibrosis, Microvesicular hepatic steatosis, Cholestasis... OMIM:619377
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Testicular adrenal rest tumor, Hirsutism, Alopecia ORPHA:90795
Macrophage Activation Syndrome
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Neu... ORPHA:158061
Encephalocraniocutaneous Lipomatosis
Capillary hemangioma, Abnormal eyelash morphology, Neoplasm of the skeletal system, Visceral angi... ORPHA:2396
Cohen Syndrome
Thick eyebrow, Leukopenia, Neutropenia OMIM:216550
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia ORPHA:93160
Mandibuloacral Dysplasia With Type A Lipodystrophy
Absent eyelashes, Abnormal eyebrow morphology, Breast aplasia, Alopecia ORPHA:90153
Dermatomyositis
Abnormality of the nail, Abnormal hair quantity, Abnormal eosinophil morphology, Lymphoma, Gastro... ORPHA:221
Kikuchi-Fujimoto Disease
Neutropenia, Anemia, Lymphocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Meningitis, Alopecia ORPHA:50918
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Letterer-Siwe Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia OMIM:246400
Immunodeficiency 31C
Hepatomegaly, Protein-losing enteropathy, Gastrointestinal eosinophilia, Intussusception, Villous... OMIM:614162
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Nail dystrophy, Abnormal hair morphology ORPHA:90154
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Infectious encephalitis, Neutropenia ORPHA:540
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Focal Dermal Hypoplasia
Abnormality of the nail, Alopecia, Giant cell tumor of bone, Papilloma ORPHA:2092
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hirsutism, Recurrent lower respiratory tract infections, Neutropenia OMIM:618005
Serkal Syndrome
Malrotation of small bowel ORPHA:139466
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:600901
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia ORPHA:2169
Biotinidase Deficiency
Splenomegaly, Alopecia OMIM:253260
Wolcott-Rallison Syndrome
Lymphocytosis, Recurrent infections, Iron deficiency anemia, Neutropenia ORPHA:1667
Transcobalamin Ii Deficiency
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Neutropenia OMIM:275350
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Protein-losing enteropathy, High palate, Hepatosplenomegaly, Hepatic failure ORPHA:1655
Methylmalonic Acidemia With Homocystinuria Type Cblf
Recurrent infections, Megaloblastic anemia, Neutropenia ORPHA:79284
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia OMIM:235510
Necrotizing Enterocolitis
Neonatal sepsis, Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Xeroderma Pigmentosum
Neoplasm of the eye, Papilloma, Melanoma, Neoplasm, Alopecia ORPHA:910
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Sparse hair, Hamartoma of tongue, Dry hair, Alopecia OMIM:311200
Colchicine Poisoning
Leukocytosis, Alopecia ORPHA:31824
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis OMIM:277440
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227650
Orofaciodigital Syndrome Type 1
Odontogenic neoplasm, Brittle hair, Sparse hair, Hamartoma of tongue, Coarse hair, Alopecia ORPHA:2750
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent otitis media, Testicular neoplasm, Recurrent urinary tract infections, Melanoma, Hemang... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent otitis media, Testicular neoplasm, Recurrent urinary tract infections, Melanoma, Hemang... ORPHA:363958
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Thrombocytopenia, Leukopenia, Neutropenia OMIM:251000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hypoplastic fingernail, Abnormal hair morphology, Abnormality of the nail, Hyperconvex fingernail... ORPHA:2273
Proprotein Convertase 1/3 Deficiency
Villous atrophy OMIM:600955
Tarp Syndrome
Meckel diverticulum, High palate, Glossoptosis, Cleft palate, Tongue nodules, Hepatic failure OMIM:311900
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Recurrent respiratory infections, T lymphocytopenia, Recurrent sinusitis,... OMIM:607944
Shwachman-Diamond Syndrome 2
Recurrent infections, Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Bartsocas-Papas Syndrome 1
Small nail, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Anonychia, Alopecia totalis, Alo... OMIM:263650
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Nail dystrophy, Absent eyelashes, Patchy alopecia, Sparse eyelashes, Sparse body hair, Anonychia,... OMIM:106260
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Recurrent infections, Thick eyebrow, Neutropenia OMIM:615471
Distal Deletion 19P
Thick eyebrow, Alopecia ORPHA:96129
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Gastritis, Melena, Enterocolitis, Hematochezia, Hematol... ORPHA:73263
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Pancytopenia, Recurrent infections, Reticulocytopenia, S... OMIM:557000
Syndromic Diarrhea