Gene: Fhit MGI:1277947

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Not currently registered for phenotyping at IMPC

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

Gene Summary

fragile histidine triad gene

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Matching phenotypes Source
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutropenia, Verrucae, Recu... OMIM:614868
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Alopecia Areata 2
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:610753
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Candidiasis, Familial, 1
Alopecia, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Hypotrichosis 5
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes OMIM:612841
Alopecia Areata 1
Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis, Patchy alopecia OMIM:104000
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia, Nail pits, Ridged nail, Congenital alopecia totalis ORPHA:169095
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Alopecia Universalis
Absent eyelashes, Patchy alopecia, Alopecia universalis, Absent eyebrow ORPHA:701
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, ... ORPHA:70592
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
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, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Recurrent respiratory infections, Neutropenia OMIM:615214
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Immunodeficiency 21
Myeloid leukemia, Myelodysplasia, Monocytopenia, Recurrent fungal infections, Abnormal natural ki... OMIM:614172
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Specific Granule Deficiency 2
Recurrent pneumonia, Absent neutrophil specific granules, Myelodysplasia, Recurrent otitis media,... OMIM:617475
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Abnormal ... ORPHA:2722
Ectodermal Dysplasia 6, Hair/Nail Type
Dystrophic toenail, Sparse hair, Alopecia, Thin toenail OMIM:614928
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Nail pits, Decreased helper T cell proportion, Ridged nail, Alopecia, Nail dys... OMIM:601705
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Recurrent viral infections, Leukopenia, Recurrent bacteria... OMIM:310350
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Recurrent bacterial infections, Recurr... OMIM:613501
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Immunodeficiency 50
Lymphopenia, Recurrent urinary tract infections, Recurrent respiratory infections, Neutropenia OMIM:300988
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis OMIM:104130
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails OMIM:617294
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia, Recurrent bronchopulmonary infections ORPHA:90023
Kerion Celsi
Recurrent cutaneous abscess formation, Alopecia ORPHA:499
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Congenital alopecia totalis, Fingernail dysplasia ORPHA:1010
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Absent eyebrow, Brittle hair, Alopecia, Congenital onychodystrophy... OMIM:602032
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Neutropenia, Recurrent bacterial infections, Recurre... OMIM:613502
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Lymphoproliferative disorder, Hemolytic anemia, Autoimmune thrombocyt... OMIM:614470
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Sparse hair, Sparse and thin eyebrow, Brittle hair, Alopecia, Dystrophic toenail, Dy... OMIM:614929
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Recurrent infections, Leukopenia, Sp... OMIM:615285
L-Ferritin Deficiency
Alopecia OMIM:615604
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia, Recurrent bacterial infections OMIM:610738
Porphyria Cutanea Tarda
Hepatocellular carcinoma, Onycholysis, Alopecia, Facial hypertrichosis OMIM:176100
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Breast carcinoma, Alopecia OMIM:614564
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Squamous cell carcinoma, Alopecia OMIM:618373
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Recurrent sinusitis, Recurrent sinopulmonary infections, Thrombocyto... OMIM:616576
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent otitis media, Recurrent infections, Chronic mucocutaneous candidiasis, Alopecia, Recurr... OMIM:618282
Marie Unna Hereditary Hypotrichosis
Coarse hair, Sparse scalp hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of the e... ORPHA:444
Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy OMIM:158000
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Thumb Deformity And Alopecia
Alopecia OMIM:188150
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia, Recurrent bacterial infections ORPHA:86788
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Sparse body hair, Alopecia universalis ORPHA:1008
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Sparse hair, Ovarian neoplasm, Alopecia, Aplasia/Hypoplasia of the eyebrow,... ORPHA:50944
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Lymphoproliferative disorder, Increased pr... OMIM:615559
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Pili Torti
Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair, Alopecia, Abnormality of hair... ORPHA:2889
Jejunal Atresia
Jejunal atresia OMIM:243600
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Malabsorption, Lymphoma ORPHA:100025
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Ileitis, Protein-losing enteropathy, Pancolitis, Gastritis, Abnormal int... OMIM:619079
Crandall Syndrome
Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Pili torti ORPHA:202
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Dystrophic toenail, Fine hair, Dystrophic f... ORPHA:1882
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Myelodysplasia, Leukocytosis, Refractory anemia with ringed s... ORPHA:75564
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Short eyelashes, Curly hair, Chronic neutropenia, Neutropenia, Sparse pubic hair, ... OMIM:258360
Ectodermal Dysplasia-Syndactyly Syndrome 1
Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Sparse scalp hair, Sparse and ... OMIM:613573
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Neutropenia, Recurrent sinopulmonary inf... OMIM:616740
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Omenn Syndrome
Severe B lymphocytopenia, Recurrent fungal infections, Recurrent viral infections, Hypoplasia of ... OMIM:603554
Cronkhite-Canada Syndrome
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Abnormal fingernail morphology, Gastroin... ORPHA:2930
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Recurrent fungal infections, Helicobacter pylori infection, Lymphopen... ORPHA:2688
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent otitis media, Recurrent oral ... OMIM:619220
Lymphoproliferative Syndrome 3
Lymphoproliferative disorder, Severe varicella zoster infection, Reduced natural killer cell coun... OMIM:618261
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Abnormal peristalsis, Intestinal malrotation, Steatorrhea, Con... OMIM:615237
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Myelodysplasia, Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Incr... OMIM:619041
Splenomegaly, Neutropenia, Anemia, Recurrent pneumonia OMIM:602079
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Refractory Anemia
Erythroid hypoplasia, Myelodysplasia, Single lineage myelodysplasia, Neutropenia, Normocytic anem... ORPHA:98826
Agammaglobulinemia 8, Autosomal Dominant
Recurrent otitis media, Recurrent infections, B lymphocytopenia OMIM:616941
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Deafness-Craniofacial Syndrome
Alopecia OMIM:125230
Whim Syndrome 1
Verrucae, Recurrent bacterial infections, Neutropenia, Recurrent upper respiratory tract infections OMIM:193670
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Recurrent bronchopulmonary infections OMIM:610798
Clouston Syndrome
Onycholysis, Small nail, Absent pubic hair, Absent axillary hair, Slow-growing hair, Nail dysplas... OMIM:129500
Cheilitis Glandularis
Neoplasm, Abnormal salivary gland morphology, Squamous cell carcinoma ORPHA:1221
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Recurrent viral infections, Alopecia OMIM:617443
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Fine hair, Abnormal fingernail m... ORPHA:248
Classic Mycosis Fungoides
Abnormality of the nail, Abnormal lymphocyte morphology, Lymphoma, Alopecia, Splenomegaly, Cutane... ORPHA:2584
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Sparse hair, Alopecia OMIM:616353
Immunodeficiency 55
Myelodysplasia, Recurrent infections, Neutropenia OMIM:617827
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, A... ORPHA:231401
Oliver-Mcfarlane Syndrome
Long eyelashes, Long eyebrows, Sparse hair, Alopecia OMIM:275400
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Small bowel diverticula, Jejunoileal ulceration OMIM:221400
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Severe Epstein Barr virus infection, Neutropenia, Burkitt lympho... OMIM:308240
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent sinusitis, Neutropenia, B lymphocytopenia, Recurrent pneumonia,... OMIM:601495
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... ORPHA:573
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Sparse hair, Ridged fingernail, Fingernail dysplasia, Alopecia ORPHA:2251
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Recurrent otitis media, Recurrent sinusitis, Abnormally low T c... OMIM:618986
Pili Torti-Onychodysplasia Syndrome
Trichodysplasia, Absent eyelashes, Absent eyebrow, Alopecia universalis, Alopecia, Brittle hair, ... ORPHA:2890
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Chronic oral candidiasis, Neutropenia, Spl... OMIM:150550
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Hemangioma, Myelodysplasia, Lymphopenia, Leukemia, Recurrent viral infections, Neutr... ORPHA:486
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, T lymphocytopenia, Abnormal CD4:CD8 ratio, Recurrent fungal infections, Autoimm... ORPHA:572
Diarrhea 2, With Microvillus Atrophy
Villous atrophy, Abnormal intestine morphology OMIM:251850
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Quinquaud Folliculitis Decalvans
Scarring alopecia of scalp, Patchy alopecia, Abnormal hair morphology ORPHA:346
Ulerythema Ophryogenesis
Abnormal eyebrow morphology, Alopecia ORPHA:3406
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... ORPHA:220460
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Neoplasm of the rectum, Endometrial carcinoma, Mening... ORPHA:454840
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Diarrhea 9
Villous atrophy OMIM:618168
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Palmoplantar Keratoderma And Congenital Alopecia 1
Sparse eyebrow, Sparse hair, Leukonychia, Nail dysplasia, Brittle hair, Alopecia OMIM:104100
3-Methylglutaconic Aciduria, Type Vii
Recurrent infections, Neutropenia OMIM:616271
Pseudopelade Of Brocq
Abnormality of the nail, Abnormal hair morphology, Sparse scalp hair, Alopecia, Aplasia/Hypoplasi... ORPHA:129
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Duodenal diverticula, Ulcerative colitis, Jejunal diverticula OMIM:223320
Erythrokeratodermia Variabilis
Abnormality of the nail, Abnormal hair morphology, Alopecia, Generalized hirsutism, Neoplasm of t... ORPHA:317
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
X-Linked Agammaglobulinemia
Neutropenia, Thrombocytopenia, Meningitis, Neoplasm, Recurrent cutaneous abscess formation, Anemi... ORPHA:47
Bjornstad Syndrome
Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei... OMIM:262000
Immunodeficiency 67
Transient neutropenia, Recurrent streptococcal infections, Liver abscess, Recurrent staphylococca... OMIM:607676
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Villous atrophy, Aganglionic megacolon, Steatorrhea, Cholestasis, V... ORPHA:95427
Bare Lymphocyte Syndrome, Type Ii
Recurrent fungal infections, Recurrent upper respiratory tract infections, Recurrent urinary trac... OMIM:209920
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Steatorrhea OMIM:613291
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Pseudoprogeria Syndrome
Sparse hair, Absent eyelashes, Absent eyebrow, Sparse and thin eyebrow, Alopecia ORPHA:2985
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Fat malabsorption, Abnorma... ORPHA:79168
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Recurrent bronchitis, Abnormality of the periungual region, Autoimmune ... ORPHA:293978
Hereditary Mixed Polyposis Syndrome
Rectal polyposis, Neoplasm of the gastrointestinal tract, Prostate cancer, Adenocarcinoma of the ... ORPHA:157794
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Recurrent fungal infections, Chronic oral candidiasis, Autoi... OMIM:606367
Omenn Syndrome
Aplasia/Hypoplasia of the eyebrow, Leukocytosis, Abnormal lymphocyte morphology, Lymphoma, Anemia... ORPHA:39041
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Hypoplastic toenails, Fingernail dysplasia, Sparse scalp hair, Toenail dysplasia, Anemia, Alopeci... ORPHA:2325
Dyskeratosis Congenita, Autosomal Dominant 1
Myelodysplasia, Nail pits, Sparse hair, Premature graying of hair, Lymphopenia, Ridged nail, Thro... OMIM:127550
Immunodeficiency, Common Variable, 10
Trachyonychia, Recurrent otitis media, Recurrent sinusitis, Recurrent oral herpes, Onychomycosis,... OMIM:615577
Hidrotic Ectodermal Dysplasia
Onycholysis, Sparse hair, Sparse eyelashes, Hyperconvex nail, Sparse axillary hair, Abnormality o... ORPHA:189
Alopecia-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Cartilage-Hair Hypoplasia
Sparse hair, Sparse eyelashes, Sparse facial hair, Impaired lymphocyte transformation with phytoh... OMIM:250250
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Flynn-Aird Syndrome
Alopecia of scalp, Alopecia OMIM:136300
Transgrediens Et Progrediens Palmoplantar Keratoderma
Alopecia, Thin fingernail ORPHA:495
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Alopecia OMIM:617763
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Lymphopenia, Recurrent sinusi... OMIM:618849
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Lichtenstein Syndrome
Hirsutism, Neutropenia, Synophrys, Recurrent infections, Recurrent respiratory infections OMIM:246550
Congenital Bile Acid Synthesis Defect Type 4
Cirrhosis, Biliary tract abnormality, Cholestasis, Hepatomegaly, Fat malabsorption ORPHA:79095
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Sézary Syndrome
Abnormal lymphocyte morphology, Lymphoma, Alopecia, Splenomegaly, Cutaneous T-cell lymphoma, Neop... ORPHA:3162
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Alopecia totalis, Nail dystrophy OMIM:212360
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Alopecia ORPHA:79397
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Skin Fragility-Woolly Hair Syndrome
Nail dysplasia, Sparse and thin eyebrow, Alopecia, Woolly hair, Nail dystrophy, Sparse eyelashes OMIM:607655
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Abnormality of the nail, Sparse and thin eyebrow, Alopecia, Sparse eyelashes OMIM:129540
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Severe infection, Thr... OMIM:304790
Hereditary Mucoepithelial Dysplasia
Sparse hair, Recurrent respiratory infections, Alopecia, Fine hair ORPHA:1839
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Mungan Syndrome
Megaduodenum, Hypoperistalsis, Barrett esophagus, Intestinal pseudo-obstruction OMIM:611376
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Villous atrophy, Protein-losing enteropathy, Hepatic fibrosis, Hepatomegaly, Hepatic f... OMIM:602579
Vascular Hyalinosis
Protein-losing enteropathy, Malabsorption, Hematochezia OMIM:277175
Familial Adenomatous Polyposis
Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, Fibroma, Neop... ORPHA:733
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia OMIM:612079
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Recurrent bacterial infections OMIM:606843
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormality of the nail, Sparse hair, Absent eyelashes, Absent eyebrow, Toenail dysplasia, Alopecia OMIM:607823
Felty Syndrome
Abnormal lymphocyte morphology, Recurrent urinary tract infections, Neutropenia, Lymphoma, Thromb... ORPHA:47612
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Keratoderma Hereditarium Mutilans
Abnormal toenail morphology, Abnormality of the nail, Alopecia ORPHA:494
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytopenia, Recurrent infections, Leuk... OMIM:229050
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Scarring alopecia of scalp, Nail dysplasia, Sparse and thin eyebrow, Alopecia, Nail dystrophy, Sp... OMIM:612843
Lichen Planopilaris
Onycholysis, Neoplasm of the oral cavity, Alopecia, Abnormal fingernail morphology ORPHA:525
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Olmsted Syndrome 1
Sparse hair, Nail dysplasia, Subungual hyperkeratosis, Alopecia universalis, Nail dystrophy OMIM:614594
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Recurrent infections, Anemia ORPHA:88
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Prol... OMIM:214950
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Atresia Of Small Intestine
Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia ORPHA:1201
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Abnormal fingernail morphology, Alopecia, Neoplasm of the lung, Neoplasm of the skin... ORPHA:659
Fibrodysplasia Ossificans Progressiva
Alopecia, Anemia ORPHA:337
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Poikiloderma With Neutropenia
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Neutropenia, Splenomegaly OMIM:604173
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of scalp, Congenital alopecia t... ORPHA:2269
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Hematochezia, Gastrointestinal carcinoma, Protein-losing enteropathy, Xerostomia, Hama... OMIM:175500
Refractory Celiac Disease
Elevated hepatic transaminase, Jejunitis, Villous atrophy, Lymphoma, Protein-losing enteropathy, ... ORPHA:398063
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:603552
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Alopecia OMIM:615704
Cutaneous abscess, Decreased proportion of CD4-positive helper T cells, Neutropenia, Leukopenia, ... ORPHA:443811
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Nail dystrophy, Sparse hair, Alopecia OMIM:242300
Annular Pancreas
Duodenal stenosis, High intestinal obstruction ORPHA:675
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Sparse hair, Long eyelashes, Alopecia, Curly eyelashes, Abnormal hair pattern ORPHA:3051
Pancreas, Annular
Duodenal stenosis, High intestinal obstruction OMIM:167750
Keutel Syndrome
Recurrent otitis media, Recurrent sinusitis, Recurrent respiratory infections, Alopecia ORPHA:85202
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Pancreatic Colipase Deficiency
Fat malabsorption, Steatorrhea, Cholelithiasis ORPHA:309108
Autosomal Agammaglobulinemia
Neutropenia, Meningitis, Verrucae, Recurrent infections, Sepsis, Recurrent respiratory infections ORPHA:33110
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia... OMIM:601346
Mucoepithelial Dysplasia, Hereditary
Coarse hair, Nail dysplasia, Nail dystrophy, Chronic monilial nail infection, Chronic mucocutaneo... OMIM:158310
Turcot Syndrome With Polyposis
Melena, Adenomatous colonic polyposis, Neoplasm of the central nervous system, Pilomatrixoma, Cer... ORPHA:99818
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Synophrys, Nail dystrophy,... ORPHA:3253
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Recurrent infections, Neutropenia, Anemia OMIM:617056
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Hypopigmentation of hair, Recurrent systemic pyogenic ... OMIM:214500
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Fat malabsorp... OMIM:211600
Barth Syndrome
Recurrent infections in infancy and early childhood, Granulocytopenia, Neutropenia OMIM:302060
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Steator... OMIM:607765
Eosinophilic Gastroenteritis
Hematochezia, Dysphagia, Abnormality of the gastrointestinal tract, Steatorrhea, Protein-losing e... ORPHA:2070
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Absent eyebrow, Sparse scalp hair, Alopecia, Sparse body hair ORPHA:69735
Immunodeficiency 23
Hemolytic anemia, Recurrent staphylococcal infections, Persistent EBV viremia, Recurrent Staphylo... OMIM:615816
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Pancytopenia, Thrombocytopenia, Nail dysplasia, Aplastic anemia, Leuko... OMIM:613990
Immunodeficiency 31C
Villous atrophy, Abnormal intestine morphology OMIM:614162
Hypomelanosis Of Ito
Alopecia OMIM:300337
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Lymphoproliferative disorder, Autoimmune t... OMIM:614700
Down Syndrome
Macroglossia, Acute megakaryocytic leukemia, Myeloproliferative disorder, Aganglionic megacolon, ... OMIM:190685
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia, Recurrent viral infections, Neoplasm, Alopecia, Neoplasm of... ORPHA:2959
Trigonocephaly 1
Meckel diverticulum OMIM:190440
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Neutropenia ORPHA:2643
Bloom Syndrome
Severe toxoplasmosis, Recurrent urinary tract infections, Neoplasm of the breast, Neoplasm, Malig... ORPHA:125
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Alopecia ORPHA:177
Hypervitaminosis A, Susceptibility To
Alopecia totalis OMIM:240150
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Alopecia, Anemia, Squamous cell carcinoma, Nail dystrophy OMIM:226600
Localized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Sparse axillary hair, Sparse pubic hair, Dystrophic toenail, Dystroph... ORPHA:251393
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Ichthyosis, Congenital, Autosomal Recessive 2
Abnormal hair morphology, Small nail, Alopecia, Thin nail OMIM:242100
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Griscelli Syndrome Type 2
Hemophagocytosis, Hypopigmentation of hair, Premature graying of hair, Neutropenia, Pancytopenia,... ORPHA:79477
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia OMIM:215100
Renpenning Syndrome
Abnormal hair laboratory examination, Thin eyebrow, Alopecia ORPHA:3242
Abnormal Hair, Joint Laxity, And Developmental Delay
Small nail, Recurrent otitis media, Sparse lateral eyebrow, Alopecia, Trichorrhexis nodosa, Pili ... OMIM:261990
Mitchell-Riley Syndrome
Biliary atresia, Intestinal malrotation, Jejunal atresia, Cholestasis, Duodenal atresia, Absent g... OMIM:615710
Cyclic Neutropenia
Recurrent tonsillitis, Decreased eosinophil count, Tooth abscess, Lymphopenia, Severe infection, ... ORPHA:2686
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Albinism, Chronic oral candidiasis, Recurrent otitis media, Neutropenia, Fai... OMIM:608233
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Nail dystrophy ORPHA:1366
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal hair quantity, Neoplasm of the thyroid gland, Neoplasm of the breast, Sarcoma, Alopecia,... ORPHA:457059
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Carcinoma, Renal angiomyolipoma, Carcinoid tumor, Parathyroid adenoma... OMIM:610755
Dyskeratosis Congenita
Abnormal eyebrow morphology, Sparse hair, Premature graying of hair, Abnormality of neutrophils, ... ORPHA:1775
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Alopecia ORPHA:50812
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Asplenia, Alopecia, Chronic mucocutaneous candidiasis, Thymoma OMIM:269200
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Hemolytic anemia, Abnormal lymphocyte morphology, Neoplasm of the thymus, Pancytopenia, B lymphoc... ORPHA:99867
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Sepsis, Neutropenia, Anemia ORPHA:289916
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Fibrodysplasia Ossificans Progressiva
Hamartoma, Alopecia OMIM:135100
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Duodenal stenosis, Intestinal malrotation ORPHA:1759
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Steatorrhea, Anal atresia, Cholesta... ORPHA:92050
Pachyonychia Congenita
Onychogryposis of fingernail, Paronychia, Fingernail dysplasia, Steatocystoma multiplex, Alopecia... ORPHA:2309
Hereditary Bullous Dystrophy, Macular Type
Congenital abnormal hair pattern, Nail dystrophy, Atrichia, Alopecia ORPHA:1867
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia OMIM:598500
Frontonasal Dysplasia 2
Sparse and thin eyebrow, Sparse hair, Alopecia, Sparse eyelashes OMIM:613451
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Protein-losing enteropathy, Decreased liver function, Cholestasis OMIM:608104
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Neutropenia OMIM:251190
Trichohepatoenteric Syndrome 2
Cirrhosis, Villous atrophy, Colitis, Hepatomegaly, Hepatitis OMIM:614602
Pelger-Huet Anomaly
Abnormality of neutrophils, Recurrent otitis media, Neutropenia, Hyposegmentation of neutrophil n... OMIM:169400
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Hemifacial Atrophy, Progressive
Poliosis, Patchy alopecia OMIM:141300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Mucopolysaccharidosis-Plus Syndrome
Low anterior hairline, Hirsutism, Neutropenia, Coarse hair, Recurrent bronchopulmonary infections... OMIM:617303
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Nail dystrophy, Brittle hair, Coarse hair, Alopecia ORPHA:75389
Kid Syndrome
Hypoplastic toenails, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Recurrent bacterial skin in... ORPHA:477
Rothmund-Thomson Syndrome
Basal cell carcinoma, Myelodysplasia, Abnormality of the nail, Sparse eyebrow, Small nail, Sparse... ORPHA:2909
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Whim Syndrome
Recurrent upper respiratory tract infections, Cutaneous melanoma, Lymphopenia, Neutropenia, Papil... ORPHA:51636
Adult Syndrome
Nail pits, Abnormality of the nail, Absent nipple, Breast hypoplasia, Fingernail dysplasia, Hypop... ORPHA:978
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Hemochromatosis, Type 1
Hepatocellular carcinoma, Alopecia, Splenomegaly OMIM:235200
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Rapp-Hodgkin Syndrome
Decreased number of sweat glands, Small nail, Sparse hair, Recurrent otitis media, Pili canalicul... OMIM:129400
Autoinflammatory Syndrome, Familial, Behcet-Like
Ileal ulcer, Colitis OMIM:616744
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Sparse eyelashes, Sparse hair, Alopecia, Thick hair OMIM:607626
Developmental And Epileptic Encephalopathy 66
Synophrys, Neutropenia, Anemia OMIM:618067
Juvenile Polyposis Of Infancy
Hemangioma, Subcutaneous lipoma, Intestinal bleeding, Hemangioblastoma, Gastrointestinal hemorrha... ORPHA:79076
Alopecia-Mental Retardation Syndrome 4
Alopecia OMIM:618840
Bathing Suit Ichthyosis
Alopecia, Sparse hair, Nail dystrophy ORPHA:100976
Hemochromatosis, Type 3
Lymphopenia, Neutropenia, Anemia OMIM:604250
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyelashes, Absent eyebrow, Alopecia ORPHA:2316
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Coarse hair, Thrombocytopenia, Abnormal T cell morphology, Recurrent in... OMIM:242900
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption OMIM:600955
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyelashes, Absent eyebrow, Alopecia OMIM:147770
Juvenile Polyposis Syndrome
Hamartomatous stomach polyps, Juvenile gastrointestinal polyposis, Intestinal polyp, Hamartomatou... ORPHA:2929
Autoimmune Polyendocrinopathy Type 1
Alopecia, Chronic mucocutaneous candidiasis, Abnormal fingernail morphology ORPHA:3453
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic oral candidiasis, Asplenia, Alopecia universalis, Chronic mucocutaneous candidiasis, Alop... OMIM:240300
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Neutropenia, Macrothrombocytopenia, Recurrent bacterial infections OMIM:603585
Congenital Non-Bullous Ichthyosiform Erythroderma
Abnormality of the nail, Alopecia ORPHA:79394
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Duodenal Atresia
Duodenal atresia OMIM:223400
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Alopecia ORPHA:79242
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Abno... ORPHA:801
Dyskeratosis Congenita, X-Linked
Myelodysplasia, Premature graying of hair, Carcinoma, Pterygium of nails, Ridged nail, Pancytopen... OMIM:305000
Adams-Oliver Syndrome
Sparse hair, Absent fingernail, Thrombocytopenia, Hypoplastic fingernail, Leukopenia, Alopecia, A... ORPHA:974
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Hypoplastic toenails, Small nail, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse scalp ... ORPHA:544488
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Meningitis, Encephal... ORPHA:292
Rothmund-Thomson Syndrome Type 1
Basal cell carcinoma, Myelodysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Neutropenia... ORPHA:221008
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse hair, Absent eyelashes, Absent eyebrow, Sparse and thin eyebrow, Alopecia, Sparse eyelashes OMIM:137940
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Alopecia totalis OMIM:300918
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent infections, Squamous cell carcinoma of the skin, Anemia, Alopecia, Sepsis, Nail dystrop... ORPHA:79396
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Hemangioma, Reticulocytosis, Neutropenia, Thrombocytopenia, He... ORPHA:2330
Monosomy 18P
Low posterior hairline, Alopecia ORPHA:1598
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Hypoplastic fingernail, Alopecia ORPHA:257
Colonic Atresia
Peptic ulcer, Duodenal stenosis, Colonic atresia ORPHA:1198
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Rothmund-Thomson Syndrome, Type 2
Basal cell carcinoma, Sparse eyebrow, Sparse hair, Premature graying of hair, Absent eyelashes, A... OMIM:268400
Autoimmune Polyendocrinopathy Type 4
Autoimmune thrombocytopenia, Leukopenia, Alopecia, Thymoma, Aplasia/Hypoplasia of the spleen, Non... ORPHA:227990
Systemic Sclerosis
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Dysp... ORPHA:90291
Rothmund-Thomson Syndrome Type 2
Basal cell carcinoma, Myelodysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Neutropenia... ORPHA:221016
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Small bowel diverticula, Colonic diverticula OMIM:223330
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Multiple Carboxylase Deficiency
Alopecia ORPHA:148
Mandibulofacial Dysostosis With Alopecia
Sparse and thin eyebrow, Alopecia, Sparse eyelashes OMIM:616367
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Myelodysplasia, Recurrent upper respiratory tract infections, Lymphopenia, Neutropenia, Reticuloc... ORPHA:508542
Olmsted Syndrome 2
Alopecia universalis, Woolly hair, Sparse hair OMIM:619208
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Flynn-Aird Syndrome
Alopecia ORPHA:2047
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Fragile nails OMIM:242150
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Hypopigmentation of hair, Recurrent s... ORPHA:167
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Neutropenia, Thrombocytopenia, Meningitis, Splenomegaly, Recurrent bacterial in... OMIM:308230
Incontinentia Pigmenti
Abnormality of the nail, Abnormal hair morphology, Broad nail, Ridged fingernail, Verrucae, Encep... ORPHA:464
Mixed Connective Tissue Disease
Hemolytic anemia, Meningitis, Splenomegaly, Alopecia, Leukopenia ORPHA:809
Oculocerebrocutaneous Syndrome
Exostoses, Alopecia, Abnormal fingernail morphology ORPHA:1647
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Steato... ORPHA:71
Shwachman-Diamond Syndrome 1
Myelodysplasia, Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute m... OMIM:260400
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia, Alopecia, Leukopenia ORPHA:93552
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Lmna-Related Cardiocutaneous Progeria Syndrome
Basal cell carcinoma, Sparse hair, Premature graying of hair, Absent eyelashes, Papillary renal c... ORPHA:363618
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Alopecia universalis, Anonychia, Absent fingernail OMIM:609638
Shwachman-Diamond Syndrome
Myelodysplasia, Chronic neutropenia, Recurrent viral infections, Neutropenia, Impaired neutrophil... ORPHA:811
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Fine hair, Alopecia ORPHA:228390
Gapo Syndrome
Hemangioma, Early balding, Sparse and thin eyebrow, Alopecia, Sparse eyelashes ORPHA:2067
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Mandibuloacral Dysplasia With Type B Lipodystrophy
Brittle hair, Sparse hair, Alopecia, Abnormality of hair texture OMIM:608612
Autoimmune Polyendocrinopathy Type 3
Autoimmune thrombocytopenia, Leukopenia, Alopecia, Thymoma, Aplasia/Hypoplasia of the spleen, Non... ORPHA:227982
H Syndrome
Abnormal eyebrow morphology, Microcytic anemia, Histiocytosis, Hypertrichosis, Alopecia, Recurren... ORPHA:168569
Unusual CNS infection, Neutropenia, Meningitis, Hematological neoplasm, Encephalitis, Invasive pu... ORPHA:1163
Meckel diverticulum, Intestinal malrotation, Neuroblastoma ORPHA:1666
Bresek Syndrome
Alopecia ORPHA:85284
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Schimmelpenning-Feuerstein-Mims Syndrome
Basal cell carcinoma, Hemangioma, Alopecia OMIM:163200
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Macs Syndrome
Sparse and thin eyebrow, Sparse hair, Alopecia OMIM:613075
Netherton Syndrome
Villous atrophy, Intestinal atresia, Abnormal intestine morphology OMIM:256500
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hirsutism, Alopecia OMIM:615830
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Fat malabsorption, Periportal fibrosis, Biliary hyperplasia, Cholest... ORPHA:731
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Supernumerary nipple, Alopecia ORPHA:3224
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Lung abscess, Unusual CNS infection, Lymphopenia, Granuloma, Onychomycosis, Neutropenia, Paronych... ORPHA:228119
Alopecia OMIM:613229
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Neutropenia, Anemia, Splenomegaly ORPHA:79312
Gomez-Lopez-Hernandez Syndrome
Alopecia OMIM:601853
Harrod Syndrome
Malrotation of small bowel, Aganglionic megacolon, High palate, High, narrow palate, Pyloric sten... OMIM:601095
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Absent eyebrow, Thrombocytopenia, Hypertrichosis, Loss of eyelashes, Alopecia, ... OMIM:263700
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Alopecia OMIM:253270
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Thrombocytosis, Lymphoma, Alopecia, Macrocytic anemia OMIM:212750
Biotinidase Deficiency
Recurrent viral infections, Recurrent fungal infections, Alopecia, Recurrent candida infections ORPHA:79241
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal toenail morphology, Sparse hair, Alopecia ORPHA:1005
Bartsocas-Papas Syndrome
Alopecia totalis, Hypoplastic toenails, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eye... ORPHA:1234
Elevated hepatic transaminase, Protein-losing enteropathy ORPHA:95428
Leigh Syndrome
Severe viral infection, Neutropenia, Hypertrichosis, Frontal hirsutism, Anemia, Alopecia ORPHA:506
Encephalocraniocutaneous Lipomatosis
Subcutaneous lipoma, Alopecia, Lipoma, Multiple central nervous system lipomas OMIM:613001
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Fat malabsorption OMIM:200100
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, Leukopenia, Chronic infection ORPHA:520
Schimke Immuno-Osseous Dysplasia
Non-Hodgkin lymphoma, Lymphoproliferative disorder, Abnormal proportion of naive CD4 T cells, Lym... ORPHA:1830
Gapo Syndrome
Sparse eyebrow, Sparse hair, Breast hypoplasia, Nail dysplasia, Hypoplastic nipples, Alopecia, Sp... OMIM:230740
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Recurrent infections, Neutropenia OMIM:608809
Increased mean corpuscular hemoglobin concentration, Ridged nail, Neutropenia, Tiger tail banding... ORPHA:33364
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyelashes, Absent eyebrow, Nail dysplasia, Alopecia, Nail dystrophy OMIM:308205
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, High palate, Villous atrophy OMIM:601110
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Enterocolitis OMIM:616050
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia ORPHA:412057
Diamond-Blackfan Anemia 11
Neutropenia, Anemia, Anemia of inadequate production OMIM:614900
Insulin-Resistance Syndrome Type B
Multiple myeloma, Hirsutism, Lymphoma, Thrombocytopenia, Hodgkin lymphoma, Leukopenia, Alopecia ORPHA:2298
Short Syndrome
Sparse hair, Alopecia ORPHA:3163
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Villous atrophy, Cholelithiasis, Bil... ORPHA:567983
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse and thin eyebrow, Sparse hair, Alopecia, Sparse eyelashes OMIM:302960
Mandibuloacral Dysplasia
Sparse hair, Hypoplastic fingernail, Alopecia ORPHA:2457
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Patchy alopecia ORPHA:85279
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Anemia, Splenomegaly ORPHA:398124
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Hemobilia, Intussusception, Abnormal g... ORPHA:512
Hermansky-Pudlak Syndrome 10
Albinism, Recurrent respiratory infections, Neutropenia, Splenomegaly OMIM:617050
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyelashes, Small nail, Absent eyebrow, Alopecia ORPHA:166035
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Johanson-Blizzard Syndrome
Abnormal hair pattern, Alopecia, Anemia ORPHA:2315
Hallermann-Streiff Syndrome
Sparse hair, Rib exostoses, Sparse and thin eyebrow, Alopecia, Abnormality of hair texture, Spars... ORPHA:2108
Acrodermatitis Enteropathica
Abnormality of the nail, Abnormal eyebrow morphology, Ridged nail, Paronychia, Ridged fingernail,... ORPHA:37
Alopecia OMIM:300100
Congenital Alveolar Capillary Dysplasia
Intestinal malrotation, Aganglionic megacolon, Anal atresia, Volvulus, Absent gallbladder, Duoden... ORPHA:210122
X-Linked Non-Syndromic Intellectual Disability
Meckel diverticulum, Pyloric stenosis ORPHA:777
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Neutropenia, Anemia OMIM:614857
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis ORPHA:2547
Diamond-Blackfan Anemia 7
Recurrent otitis media, Neutropenia, Recurrent infections, Increased mean corpuscular volume, Mac... OMIM:612562
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatomegaly, Hepatic failure, Cleft palate, High palate OMIM:235255
Satoyoshi Syndrome
Sparse or absent eyelashes, Alopecia universalis, Abnormal hair morphology ORPHA:3130
Isolated Biliary Atresia
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Fat malabsorption, Periportal fibr... ORPHA:30391
Alstrom Syndrome
Alopecia, Recurrent pneumonia OMIM:203800
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Breast hypoplasia, Sparse facial hair, Sparse pubic hair, Alopecia o... ORPHA:2232
Neutral Lipid Storage Disease With Ichthyosis
Abnormal granulocyte morphology, Alopecia ORPHA:98907
Giant Cell Arteritis
Meningitis, Recurrent pharyngitis, Alopecia ORPHA:397
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Alopecia totalis, Normochromic anemia OMIM:618775
Atypical Werner Syndrome
Renal neoplasm, Ovarian neoplasm, Neoplasm of the oral cavity, Abnormal hair morphology, Abnormal... ORPHA:79474
Retinal Venous Beading
Neutropenia OMIM:180080
Cohen Syndrome
Thick eyebrow, Neutropenia, Leukopenia OMIM:216550
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia OMIM:600351
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Myelodysplasia, Pure red cell ... ORPHA:124
Sepsis In Premature Infants
Disseminated viral infection, Leukocytosis, Neonatal sepsis, Neutropenia, Severe infection, Menin... ORPHA:90051
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Morphological abnormality of the gastrointestinal tract, Intestinal malrotation ORPHA:2847
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Small nail, Neutropenia, Anemia OMIM:614520
Necrotizing Enterocolitis
Thrombocytopenia, Neonatal sepsis, Neutropenia, Leukocytosis ORPHA:391673
Severe Generalized Junctional Epidermolysis Bullosa
Abnormality of the nail, Anonychia, Recurrent urinary tract infections, Pyoderma, Paronychia, Ane... ORPHA:79404
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Acute leukemia, Microcytic anemia, Lymphopenia, Neutropenia, ... ORPHA:906
Syndromic Diarrhea
Cirrhosis, Villous atrophy, Colitis, Hepatic fibrosis, Hepatomegaly, Gastritis, Abnormality of th... ORPHA:84064
Letterer-Siwe Disease
Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Anemia OMIM:246400
Linear Nevus Sebaceus Syndrome
Cavernous hemangioma, Alopecia, Adenoma sebaceum ORPHA:2612
Mandibuloacral Dysplasia With Type B Lipodystrophy
Nail dystrophy, Abnormal hair morphology, Alopecia ORPHA:90154
Oculoskeletodental Syndrome
Hepatomegaly, Macroglossia, Protein-losing enteropathy OMIM:618440
Lethal Acantholytic Erosive Disorder
Absent toenail, Absent eyelashes, Absent fingernail, Absent eyebrow, Absent hair, Congenital alop... ORPHA:158687
X-Linked Intellectual Disability, Nascimento Type
Low posterior hairline, Abnormal hair whorl, Neutropenia, Synophrys, Lumbar hypertrichosis, Recur... ORPHA:163956
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia ORPHA:93160
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Absent eyelashes, Anonychia, Hyperconvex nail, Patchy alopecia, Sparse body hair, Supernumerary n... OMIM:106260
Serkal Syndrome
Malrotation of small bowel ORPHA:139466
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hirsutism, Testicular adrenal rest tumor, Alopecia ORPHA:90795
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Abnormal eyebrow morphology, Absent eyelashes, Alopecia ORPHA:90153
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Esophageal carcinoma, Villous atrophy, Hepatitis, Oropharyngeal squamous cell carcinoma, Abnormal... ORPHA:391487
Abnormal jejunum morphology ORPHA:449280
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Neoplasm of the skeletal system, Multiple lipomas, Alopecia, Viscera... ORPHA:2396
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Myelodysplasia, Neutropenia, Acute myeloid leukemia, Recurrent infections, Anemia OMIM:601347
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Propionic Acidemia
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:606054
Fanconi Anemia, Complementation Group E
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:600901
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Neutropenia, Thrombocytopenia, Encephalitis, Anemia, Splenomegaly ORPHA:540
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Rectal prolapse, Narrow palate, Protein-losing enteropathy OMIM:235510
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Thick eyebrow, Recurrent infections, Neutropenia OMIM:615471
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:275350
Ane Syndrome
Alopecia ORPHA:157954
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Recurrent infections, Neutropenia, Normocytic anemia OMIM:617941
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Recurrent infections, Neutropenia ORPHA:79284
Fanconi Anemia, Complementation Group A
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:227650
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatomegaly, Hepatic failure, High palate, Hepatosplenomegaly ORPHA:1655
Biotinidase Deficiency
Alopecia, Splenomegaly OMIM:253260
Kikuchi-Fujimoto Disease
Lymphocytosis, Neutropenia, Thrombocytopenia, Meningitis, Splenomegaly, Anemia, Leukopenia, Alopecia ORPHA:50918
Focal Dermal Hypoplasia
Giant cell tumor of bone, Abnormality of the nail, Alopecia, Papilloma ORPHA:2092
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Visceral Myopathy 1
Megaduodenum, Dysphagia, Aganglionic megacolon, Intestinal pseudo-obstruction, Microcolon OMIM:155310
Polyendocrine-Polyneuropathy Syndrome
Alopecia ORPHA:453533
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the nail, Sparse hair, Thin fingernail, Abnormal hair morphology, Abnormal eyelash... ORPHA:2273
Xeroderma Pigmentosum
Neoplasm, Neoplasm of the eye, Melanoma, Alopecia, Papilloma ORPHA:910
Koolen-De Vries Syndrome Due To A Point Mutation
Hemangioma, Recurrent otitis media, Recurrent urinary tract infections, Numerous nevi, Fair hair,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hemangioma, Recurrent otitis media, Recurrent urinary tract infections, Numerous nevi, Fair hair,... ORPHA:363958
Colchicine Poisoning
Leukocytosis, Alopecia ORPHA:31824
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Recurrent infections, Neutropenia ORPHA:1667
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Autoimmune thrombocytopenia, Recurrent otitis media, Recurrent sinusitis, Lymp... OMIM:607944
Orofaciodigital Syndrome Type 1
Sparse hair, Odontogenic neoplasm, Hamartoma of tongue, Coarse hair, Brittle hair, Alopecia ORPHA:2750
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia OMIM:210210
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Sparse hair, Alopecia OMIM:311200
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis OMIM:277440
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hiatus hernia, Abnormal duodenum morphology, Intestinal malrotation, Cleft palate, High palate OMIM:601776
Mandibuloacral Dysplasia With Type A Lipodystrophy
Sparse scalp hair, Alopecia OMIM:248370
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251100
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Thrombocytopenia, Neutropenia, Megaloblastic anemia OMIM:277380
Distal Monosomy 19P13.3
Thick eyebrow, Alopecia ORPHA:96129
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal stomach morphology, Morphological abnormality of the gastrointestin... ORPHA:141127
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Meckel diverticulum OMIM:602613
Bartsocas-Papas Syndrome 1
Small nail, Absent eyelashes, Anonychia, Absent eyebrow, Sparse scalp hair, Alopecia totalis, Alo... OMIM:263650
Fanconi Anemia, Complementation Group C
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:227645
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Neutropenia, Recurrent bacterial infections OMIM:232220