Gene Summary

SLIT and NTRK-like family, member 5

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Slitrk5em1(IMPC)Mbp HOM Early adult 0.00
abnormal urinary bladder morphology Slitrk5em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Slitrk5em1(IMPC)Mbp HOM Early adult 0.00

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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.


XRay Images Whole Body Dorso Ventral

80 Images


XRay Images Whole Body Lateral Orientation

40 Images

Human diseases caused by Slitrk5 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 Slitrk5 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Non-Epidermolytic Palmoplantar Keratoderma
Erythema, Skin ulcer ORPHA:2337
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia OMIM:619126
L-Ferritin Deficiency
Restless legs, Alopecia OMIM:615604
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Kerion Celsi
Lymphadenopathy ORPHA:499
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Candidiasis, Familial, 1
Alopecia OMIM:114580
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology ORPHA:33111
Chilblain Lupus 1
Raynaud phenomenon, Abnormality of the nail, Skin ulcer OMIM:610448
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fatigable weak... ORPHA:2325
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Facial erythema, Nail dystrophy, Nail dysplasia, Dry skin OMIM:212360
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia ORPHA:346
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Dry skin, Nail dystrophy, Trichodysplas... ORPHA:2890
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Hair-pulling, Alopecia, Compulsive behaviors OMIM:613229
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er... OMIM:104100
Oliver-Mcfarlane Syndrome
Sparse hair, Alopecia, Long eyelashes, Long eyebrows OMIM:275400
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Erythrokeratodermia Variabilis
Alopecia, Abnormal hair morphology, Erythema, Abnormality of the nail, Dry skin, Generalized hirs... ORPHA:317
Mu-Heavy Chain Disease
Splenomegaly, Nephropathy, Bence Jones Proteinuria, Lymphadenopathy ORPHA:100024
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail ORPHA:2251
Buerger Disease
Skin ulcer ORPHA:36258
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Classic Mycosis Fungoides
Alopecia, Erythema, Skin ulcer, Dry skin, Abnormality of the nail ORPHA:2584
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail ORPHA:1882
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Onycholysis OMIM:176100
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Skin ulcer ORPHA:139578
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Alopecia, Long eyelashes ORPHA:3363
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Excessive wrinkled skin, Telangiectasia of the skin, Skin ulcer, Fine hair ORPHA:2500
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Limited Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Skin ulcer, Dysphagia, Pulmonary arterial hypertension, Mucosal telan... ORPHA:220402
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Scaling ski... ORPHA:2269
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Keratoderma Hereditarium Mutilans
Self-injurious behavior, Alopecia, Abnormality of the nail, Abnormal toenail morphology ORPHA:494
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Congestive heart failure, Dilated cardiomyopathy, Ven... OMIM:605676
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Facial telangiectasia ORPHA:50944
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Nicolaides-Baraitser Syndrome
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Excessive wrinkled skin,... ORPHA:3051
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Nail dys... OMIM:612843
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Nail dystrophy, Nail dysplasia ORPHA:79397
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Anorexia, Hypoplastic toenails, Dystrophic toenail, Pat... ORPHA:2930
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Fragile n... OMIM:261990
Takayasu Arteritis
Myocardial infarction, Anorexia, Vasculitis, Skin ulcer, Hypertension, Cerebral ischemia, Pulmona... ORPHA:3287
Skin ulcer ORPHA:231
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Juvenile Hyaline Fibromatosis
Abnormal hair morphology, Skin ulcer ORPHA:2028
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Burkitt Lymphoma
Abnormality of the spleen, Abnormal lymph node morphology ORPHA:543
Lichen Planopilaris
Alopecia, Onycholysis, Abnormal fingernail morphology, Skin ulcer ORPHA:525
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Hyperconvex fingernails, Fatigable weakness, Skin vesicle, Hypoplastic fingernail ORPHA:257
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Alopecia, Mitral regurgitation, Hypertensive crisis OMIM:301080
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Congestive heart fa... ORPHA:3077
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, S... OMIM:615559
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Anorexia, Paronychia, Erythema, Skin ulcer, R... ORPHA:37
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Congestive heart failure, Depression, Fatigable weaknes... ORPHA:428
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis, Lack of skin elasticity ORPHA:1366
Menkes Disease
Alopecia, Brittle hair, Cutis laxa, Intracranial hemorrhage, Sparse hair OMIM:309400
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura ORPHA:743
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Alopecia, Dry skin, Nail dystrophy, Scaling skin, Alopecia of scalp OMIM:618373
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Skin ulcer, ... ORPHA:978
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Rhizomelic Chondrodysplasia Punctata
Alopecia, Dry skin, Sparse body hair ORPHA:177
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Depression, Hypertension, Emotional lability, Hirsutism OMIM:615830
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Telangiectasia, Onycholysis, Nail dystrophy, Facial telangie... OMIM:614564
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:613101
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Heart murmur, Nail dystrophy, Atrichia ORPHA:1867
Bathing Suit Ichthyosis
Alopecia, Palmoplantar scaling skin, Nail dystrophy, Scaling skin, Sparse hair ORPHA:100976
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... OMIM:618534
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Pyoderma gangrenosum OMIM:616576
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Palmar tel... ORPHA:69735
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy OMIM:603552
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Oculocerebrocutaneous Syndrome
Alopecia, Agenesis of corpus callosum OMIM:164180
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Erythema, Skin ulcer, Cardiomyopathy, Hypertension ORPHA:767
Cold Agglutinin Disease
Splenomegaly, Abnormal urinary color, Lymphadenopathy ORPHA:56425
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Alopecia, Pericarditis, Angina pectoris, Telang... ORPHA:93672
Irritability, Hypertrophic cardiomyopathy, Pallor, Skin ulcer ORPHA:848
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Sparse eyebrow, Alopecia, Sparse eyelashes, Nail dysplasia OMIM:615704
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Hutchinson-Gilford Progeria Syndrome
Congestive heart failure, Alopecia, Angina pectoris, Myocardial infarction OMIM:176670
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Aggressive behavior, Hypoplastic t... ORPHA:544488
Centrifugal Lipodystrophy
Alopecia, Erythema, Scaling skin ORPHA:90156
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Agitation OMIM:618840
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... OMIM:602450
Chilblain Lupus
Raynaud phenomenon, Skin ulcer ORPHA:90280
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, P... OMIM:607823
Immunodeficiency 27A
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly OMIM:209950
Leukocyte Adhesion Deficiency, Type Iii
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly OMIM:612840
Necrobiosis Lipoidica
Erythema, Skin ulcer ORPHA:542592
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia, Aggressive behavior OMIM:247100
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Alopecia, Mitral regurgitation ORPHA:88630
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Small nail, Lateral ventricle dilatation OMIM:614219
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Sparse hair ORPHA:659
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Flynn-Aird Syndrome
Alopecia, Skin ulcer ORPHA:2047
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... ORPHA:79153
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Generalized lymphadenopathy OMIM:620282
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Heme Oxygenase 1 Deficiency
Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Hematuria, Nephritis OMIM:614034
Incontinentia Pigmenti
Ridged nail, Alopecia, Supernumerary nipple, Erythema, Retinal hemorrhage, Nail pits, Fine hair, ... OMIM:308300
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Glomerulonephritis, Lymphadenopathy OMIM:619375
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer ORPHA:312
Hematuria, Lymphadenopathy ORPHA:654
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Giant Cell Arteritis
Alopecia, Pericarditis, Epistaxis, Sudden cardiac death, Anorexia, Vasculitis, Skin ulcer, Depres... ORPHA:397
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Reticular Dysgenesis
Skin ulcer ORPHA:33355
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Sparse hair, Dry skin OMIM:607626
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Telangiectasia o... OMIM:137940
Hypomelanosis Of Ito
Alopecia OMIM:300337
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Skin ulcer, Pulmonary embolism ORPHA:624
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Self-injurious behavior, Alopecia, Depression OMIM:601853
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Acquired Purpura Fulminans
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Macular purpura, Internal hemorrhage ORPHA:49566
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Bradycardia, Dry skin OMIM:610768
Prolidase Deficiency
Abnormal fingernail morphology, Erythema, Low anterior hairline, Skin ulcer, White forelock, Dry ... ORPHA:742
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Classic Hodgkin Lymphoma
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Incontinentia Pigmenti
Alopecia, Abnormal fingernail morphology, Telangiectasia of the skin, Supernumerary nipple, Abnor... ORPHA:464
Ollier Disease
Skin ulcer ORPHA:296
Brooke-Spiegler Syndrome
Skin appendage neoplasm, Trichoepithelioma, Cylindroma, Skin ulcer ORPHA:79493
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia OMIM:242300
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Thin eyebrow ORPHA:3242
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Epidermolysis Bullosa, Junctional 1A, Intermediate
Patchy alopecia, Nail dystrophy, Fragile nails OMIM:226650
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Werner Syndrome
Sparse scalp hair, Telangiectasia of the skin, Myocardial infarction, Abnormal hair whorl, Conges... ORPHA:902
Hemochromatosis, Type 1
Alopecia, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia OMIM:235200
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Fine hair ORPHA:1839
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Dry skin, Pulmonic stenosis OMIM:618282
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Dry skin, Fine hair, P... OMIM:129400
Holocarboxylase Synthetase Deficiency
Irritability, Alopecia, Anorexia ORPHA:79242
Keratoderma Hereditarium Mutilans With Ichthyosis
Scaling skin on fingertip, Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia OMIM:215100
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Agenesis of corpus callosum, Fine hair ORPHA:228390
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Sézary Syndrome
Alopecia, Dry skin, Nail dystrophy ORPHA:3162
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Thin nail, Abnormal hair morphology, Erythema, Small nail OMIM:242100
Papa Syndrome
Proteinuria, Lymphadenopathy ORPHA:69126
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Hyperactivity, Nail dystrophy, Nail dysplasia, Acral ulceration, Emotional lab... OMIM:256800
Prolidase Deficiency
Diffuse telangiectasia, Skin ulcer, Low posterior hairline, Facial hirsutism, Petechiae OMIM:170100
Skin ulcer, Pallor, Anorexia ORPHA:507
Hereditary Sensory And Autonomic Neuropathy Type 1
Penetrating foot ulcers, Skin ulcer ORPHA:36386
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Anorexia, Hematochezia, Nail dystrophy, Nail dysplasia OMIM:175500
Dermatoosteolysis, Kirghizian Type
Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dystrophic toenail ORPHA:1657
Combined Immunodeficiency Due To Dock8 Deficiency
Skin ulcer ORPHA:217390
Familial Keratoacanthoma
Skin ulcer ORPHA:493
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst... ORPHA:3253
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Vasculitis, Skin ulcer, Petechiae, Purpura ORPHA:91138
Pyoderma Gangrenosum
Skin vesicle, Skin ulcer ORPHA:48104
Rhabdoid Tumor
Hematuria, Lymphadenopathy ORPHA:69077
Kury-Isidor Syndrome
Alopecia, Attention deficit hyperactivity disorder, Hypertrichosis OMIM:619762
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Brittle hair, Nail dystrophy ORPHA:75389
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Nephrotic syndrome, Hepatosplenom... ORPHA:911
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Follicular hyperplasia OMIM:614470
Attenuated Chédiak-Higashi Syndrome
Epistaxis, Skin ulcer ORPHA:352723
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Striae distensae, Depression, Hypertension, Emotional lability, Mania, Hirsutism ORPHA:189427
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Congestive heart failure, Skin ulcer, Dysphagia, Pulmonary arterial h... ORPHA:220393
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Monosomy 18P
Hypertension, Alopecia, Low posterior hairline ORPHA:1598
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly, Nephroti... OMIM:618935
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Isolated Agammaglobulinemia
Skin ulcer ORPHA:229717
Systemic Sclerosis
Alopecia, Pericarditis, Nail bed telangiectasia, Right ventricular failure, Raynaud phenomenon, M... ORPHA:90291
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Satoyoshi Syndrome
Alopecia, Alopecia universalis OMIM:600705
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Lymphoproliferative Syndrome 2
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:615122
Hereditary Amyloidosis With Primary Renal Involvement
Renal insufficiency, Proteinuria, Nocturia, Abnormal lymph node morphology, Lymphadenopathy, Tubu... ORPHA:85450
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Eryth... ORPHA:727
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Abnormal fingernail morphology, Skin ulcer, Fine hair ORPHA:1806
Boutonneuse Fever
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
X-Linked Agammaglobulinemia
Alopecia, Skin ulcer ORPHA:47
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Congestive heart failure, Premature graying of hair, Intracrani... ORPHA:363618
Squamous Cell Carcinoma Of The Anal Canal
Intestinal bleeding, Skin ulcer ORPHA:424019
Free Sialic Acid Storage Disease
Skin ulcer ORPHA:834
Immunodeficiency 91 And Hyperinflammation
Renal insufficiency, Membranoproliferative glomerulonephritis, Hemolytic-uremic syndrome, Lymphad... OMIM:619644
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Nep... OMIM:603909
Keutel Syndrome
Pulmonary arterial hypertension, Alopecia ORPHA:85202
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Right bundle branch block, Hyperte... OMIM:614008
Cinca Syndrome
Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Alopecia, Portal hypertension, Aplastic/hypoplastic toenail, Absent ... ORPHA:974
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes ORPHA:2316
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Mucoepithelial Dysplasia, Hereditary
Alopecia, Melena, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail... OMIM:158310
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pyoderma gangrenosum OMIM:604416
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Heart murmur, Small nail ORPHA:166035
Congenital Ichthyosiform Erythroderma
Alopecia, Abnormality of the nail ORPHA:79394
Skin ulcer ORPHA:280062
Omenn Syndrome
Alopecia, Dry skin, Aplasia/Hypoplasia of the eyebrow ORPHA:39041
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenop... ORPHA:160
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Macs Syndrome
Alopecia, Redundant skin, Sparse eyebrow, Cutis laxa, Sparse hair OMIM:613075
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Alopecia, Nail dystrophy OMIM:616353
Infantile Myofibromatosis
Abnormal hair morphology, Skin ulcer ORPHA:2591
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Absent eyelashes, Impaired myocardial contractility, Absent toenail, Hypovolemic ... ORPHA:158687
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Patchy alopecia, Aggressive behavior ORPHA:85279
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Alopecia, Pericarditis, Myocarditis, Pulmonary arterial hypertension... ORPHA:809
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia OMIM:612079
Autosomal Dominant Hyper-Ige Syndrome
Abnormal hair morphology, Paronychia, Skin ulcer, Skin vesicle, Dystrophic fingernails ORPHA:2314
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:3226
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin OMIM:613990
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Lacunar stroke, Alopecia, Transient ischemic attack OMIM:600142
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia OMIM:601859
Reynolds Syndrome
Skin ulcer, Telangiectasia of the skin, Dysphagia, Mucosal telangiectasiae ORPHA:779
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Scrub Typhus
Splenomegaly, Renal insufficiency, Lymphadenopathy ORPHA:83317
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis OMIM:614594
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Dysphagia ORPHA:412057
Pachyonychia Congenita
Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Onychogry... ORPHA:2309
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer ORPHA:86884
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes OMIM:616367
Short Syndrome
Sparse hair, Excessive wrinkled skin, Alopecia ORPHA:3163
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Telangiectasia of the skin... ORPHA:1775
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Chronic Mucocutaneous Candidiasis
Abnormal fingernail morphology, Erythema, Broad nail, Skin ulcer, Abnormal toenail morphology, Ab... ORPHA:1334
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy, Calci... ORPHA:97289
Acute Radiation Syndrome
Skin ulcer, Scaling skin, Hypotension, Telangiectasia ORPHA:454831
Colchicine Poisoning
Alopecia, Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arr... ORPHA:31824
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Alopecia totalis OMIM:300918
Alopecia, Attention deficit hyperactivity disorder OMIM:300100
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Fragile nails OMIM:242150
Cushing Disease
Sparse scalp hair, Striae distensae, Myocardial infarction, Fatiguable weakness of proximal limb ... ORPHA:96253
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Dilated cardiomyopathy, Pyoderma gangrenosum, Erythema OMIM:608068
Bresek Syndrome
Alopecia ORPHA:85284
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Leigh Syndrome
Alopecia, Congestive heart failure, Hypertrophic cardiomyopathy, Dysphagia, Frontal hirsutism, Ag... ORPHA:506
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple ORPHA:3224
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Psoriasiform lesion ORPHA:169154
Griscelli Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:381
Niemann-Pick Disease, Type A
Splenomegaly, Lymphadenopathy OMIM:257200
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail OMIM:609638
Abnormal hair quantity, Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocardi... ORPHA:221
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Bleeding Disorder, Platelet-Type, 21
Alopecia OMIM:617443
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Budd-Chiari syndrome... OMIM:127550
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Dominant Beta-Thalassemia
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Irritability, Pallor, A... ORPHA:231226
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Nail dystrophy, Nail dysplasia, Dysphagia OMIM:226600
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Purine Nucleoside Phosphorylase Deficiency
Splenomegaly, Lymph node hypoplasia OMIM:613179
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Abnormal lymph node morphology ORPHA:677
Progressive Supranuclear Palsy
Impulsivity, Abnormal synaptic transmission, Dysphagia, Depression ORPHA:683
Holocarboxylase Synthetase Deficiency
Irritability, Alopecia OMIM:253270
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Lack of skin elasticity, Breast aplasia ORPHA:90153
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Bartsocas-Papas Syndrome
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... ORPHA:1234
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Proteinuria, Splenomegaly, Lymphadenopathy, Hematuria ORPHA:36412
Behcet Syndrome
Raynaud phenomenon, Irritability, Erythema, Patchy alopecia OMIM:109650
Ane Syndrome
Motor neuron atrophy, Alopecia ORPHA:157954
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... ORPHA:35173
Primary Myelofibrosis
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:824
Gapo Syndrome
Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, ... OMIM:230740
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Sparse hair, Alopecia, Abnormal toenail morphology ORPHA:1005
Alstrom Syndrome
Hypertension, Alopecia, Dilated cardiomyopathy, Congestive heart failure OMIM:203800
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Legionnaires Disease
Renal insufficiency, Proteinuria, Splenomegaly, Lymphadenopathy, Hematuria, Bone marrow hypocellu... ORPHA:549
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Lymphadenitis, Abnormality of the lymphatic system, Lymphadenopa... ORPHA:2035
Beta-Thalassemia Intermedia
High-output congestive heart failure, Pallor, Pulmonary arterial hypertension, Skin ulcer ORPHA:231222
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly OMIM:619802
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology ORPHA:3453
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... OMIM:268400
Wiskott-Aldrich Syndrome
Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vasculitis, Sk... ORPHA:906
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Brittle hair OMIM:608612
Immunodeficiency 98 With Autoinflammation, X-Linked
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy OMIM:301078
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Beta-Thalassemia Major
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Irritability, Pallor, A... ORPHA:231214
Mandibuloacral Dysplasia
Sparse hair, Alopecia, Hypoplastic fingernail ORPHA:2457
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Supraventricular arrhythmia, Low posterior hairline ORPHA:2959
Gapo Syndrome
Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes ORPHA:2067
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology ORPHA:1647
Livedoid Vasculopathy
Telangiectasia of the skin, Skin ulcer, Hypertension, Ischemic stroke, Macular purpura, Ecchymosis ORPHA:542643
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Aggressive Systemic Mastocytosis
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly ORPHA:98850
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Nail dystrophy, Dysphagia OMIM:620040
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Anorexia, Vasculitis, Erythema, Skin ulcer, Purpura ORPHA:761
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Acral ulceration OMIM:162400
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia, Alopecia totalis OMIM:618775
Satoyoshi Syndrome
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis ORPHA:3130
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy ORPHA:169090
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Hypertension, Coarse hair, Sparse hair, Dry skin, Agenesis of corpus call... ORPHA:2750
Encephalocraniocutaneous Lipomatosis
Alopecia, Agenesis of corpus callosum OMIM:613001
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Patchy alopecia, Scaling skin, Alopecia universalis OMIM:606367
Absent eyebrow, Alopecia, Epistaxis, Loss of eyelashes, Penetrating foot ulcers, Acral ulceration... ORPHA:548
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia, Nail dystrophy, Alopecia universalis OMIM:240300
Felty Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:47612
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Sudden cardiac death, Erythema, Skin ulcer, Dysphagia, Polydipsia ORPHA:537
Lig4 Syndrome
Hypoplasia of penis, Lymphadenopathy ORPHA:99812
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Congestive heart failure... ORPHA:2108
Cinca Syndrome
Splenomegaly, Lymphadenopathy ORPHA:1451
H Syndrome
Abnormal eyebrow morphology, Alopecia, Abnormal cardiovascular system physiology, Facial telangie... ORPHA:168569
Vitamin D-Dependent Rickets, Type 2A
Irritability, Alopecia universalis OMIM:277440
Hyper-Igd Syndrome
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Renal angiomyolipoma, Elevated ... OMIM:260920
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... ORPHA:2388
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Alopecia ORPHA:93552
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Lymphadenopathy OMIM:304790
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension, Alopecia, Hirsutism ORPHA:90795
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Telangiectasia of the skin, Abnormal hair morphology, Abnormal ... ORPHA:79474
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Synophrys, Irritability, Dysphagia, Abnormal repetitive mannerisms ORPHA:447997
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail... OMIM:106260
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Lymphadenopathy ORPHA:139402
Celiac Disease, Susceptibility To, 1
Alopecia, Depression OMIM:212750
Alopecia, Fair hair, Long eyelashes, Hirsutism ORPHA:79330
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... ORPHA:2232
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms OMIM:616393
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Oliguria ORPHA:514
Johanson-Blizzard Syndrome
Alopecia, Abnormal hair pattern ORPHA:2315
Hereditary Spherocytosis
Restrictive cardiomyopathy, Pallor, Skin ulcer ORPHA:822
Granulomatosis With Polyangiitis
Retinal hemorrhage, Localized pulmonary hemorrhage, Skin ulcer, Diffuse alveolar hemorrhage OMIM:608710
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair OMIM:613451
Steinert Myotonic Dystrophy
Alopecia, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Card... ORPHA:273
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Lymphadenitis, Vesicoureteral reflux, Lymphadenopathy OMIM:615895
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Abnormal renal physiology, Lymphadenopathy ORPHA:540
Polyendocrine-Polyneuropathy Syndrome
Alopecia ORPHA:453533
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Portal hypertension, Raynaud phenomenon, Vasculitis, Dilated cardiomyopathy, Skin ulcer, Hyperten... OMIM:615688
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Hajdu-Cheney Syndrome
Abnormal fingernail morphology, Mitral stenosis, Synophrys, Low anterior hairline, Skin ulcer, Co... ORPHA:955
Immunodeficiency, Common Variable, 10
Trachyonychia, Alopecia totalis OMIM:615577
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Alopecia totalis, Nail dystrophy, Hypotension, Abnormality of the periungual region ORPHA:293978
Bartsocas-Papas Syndrome 1
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Dry skin, Small ... OMIM:263650
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Restlessness, Hyperactivity, Aggressive behavior, Patchy alopecia, Low frustration tolerance, Thi... OMIM:300534
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Congestive heart failure, Fine hair, Supraventricular ta... OMIM:181270
Mevalonic Aciduria
Fluctuating splenomegaly, Lymphadenopathy, Elevated urine mevalonic acid level, Hepatosplenomegaly OMIM:610377
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center OMIM:308230
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Erythema, Skin ulcer, Nail dystrophy, Dystrophic fingernails, Dystrop... ORPHA:2907
Encephalocraniocutaneous Lipomatosis
Alopecia, Abnormal eyelash morphology, Pulmonary arterial hypertension, Aortic valve stenosis, Ag... ORPHA:2396
Autosomal Dominant Severe Congenital Neutropenia
Pyoderma gangrenosum ORPHA:486
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal hair morphology, Alopecia, Nail dystrophy ORPHA:90154
Infantile Systemic Hyalinosis
Telangiectasia of the skin, Skin ulcer ORPHA:2176
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Lymphadenopathy ORPHA:436159
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia ORPHA:93160
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... ORPHA:69085
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Orofaciodigital Syndrome I
Alopecia, Dry hair, Hypertension, Sparse hair, Agenesis of corpus callosum OMIM:311200
Focal Dermal Hypoplasia
Alopecia, Erythema, Telangiectasia of the skin, Abnormality of the nail ORPHA:2092
Rothmund-Thomson Syndrome Type 1
Alopecia totalis, Telangiectasia, Facial erythema, Sparse or absent eyelashes, Nail dysplasia, At... ORPHA:221008
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... ORPHA:91139
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly OMIM:618986
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia OMIM:163200
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Dystrophic fingernails, Absent eyebrow, Raynaud p... ORPHA:740
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy OMIM:614700
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233710
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Leukonychia, Skin ulcer, Sca... ORPHA:2526
Neutral Lipid Storage Disease With Ichthyosis
Cardiomyopathy, Alopecia ORPHA:98907
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Intraventricular hemorrhage, Cardiomyopathy, Inappropriate laughter, Pulmonic stenosis,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Intraventricular hemorrhage, Cardiomyopathy, Inappropriate laughter, Pulmonic stenosis,... ORPHA:363958
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Acute Promyelocytic Leukemia
Hematuria, Lymphadenopathy ORPHA:520
Xeroderma Pigmentosum
Conjunctival telangiectasia, Alopecia, Telangiectasia of the skin, Erythema, Telangiectasia, Dry ... ORPHA:910
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Perianal erythema, Absent ... OMIM:308205
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Paronychia, Acral ulceration OMIM:201300
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Erythema, Nail dystrophy, Onychogryposis ORPHA:79396
Sympathetic Ophthalmia
Alopecia, Erythema, Retinal hemorrhage, Poliosis ORPHA:79098
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233690
Chronic Granulomatous Disease
Skin ulcer ORPHA:379
Multiple Myeloma
Splenomegaly, Lymphadenopathy, Nephrotic syndrome, Nephropathy, Acute kidney injury ORPHA:29073
Acute Generalized Exanthematous Pustulosis