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
abnormal urinary bladder morphology Slitrk5em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes 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 Lateral Orientation

20 Images


XRay Images Whole Body Dorso Ventral

60 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
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia, Bilateral intracerebral calcifications, Aggressive behavior OMIM:247100
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Alopecia Areata 2
Patchy alopecia, Alopecia of scalp, Alopecia totalis, Alopecia universalis OMIM:610753
Hypotrichosis 4
Pili torti, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Alopecia, Sparse hair OMIM:146550
Hypotrichosis Simplex
Sparse eyebrow, Sparse body hair, Alopecia, Sparse eyelashes, Sparse scalp hair, Sparse hair ORPHA:55654
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Alopecia Areata 1
Patchy alopecia, Trachyonychia, Nail pits, Alopecia universalis, Alopecia totalis OMIM:104000
Hypotrichosis 5
Absent pubic hair, Thin eyebrow, Sparse eyelashes, Alopecia, Absent axillary hair OMIM:612841
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Alopecia Universalis
Absent eyelashes, Alopecia universalis, Patchy alopecia, Absent eyebrow ORPHA:701
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Alopecia universalis, Absent axill... OMIM:615059
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Microcephaly, Sparse hair, Alopecia OMIM:203600
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Sparse scalp hair, Sparse body hair, Trich... ORPHA:3361
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse eyebrow, Sparse body hair, Alopecia, Sparse hair, Abnormal fingernai... ORPHA:2722
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Sparse scalp hair, Sparse pubic hair, Alopecia ORPHA:505
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Non-Epidermolytic Palmoplantar Keratoderma
Skin ulcer, Erythema ORPHA:2337
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Dystrophic toenail, Thin toenail, Alopecia OMIM:614928
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Alopecia, Slow-growing hair, Sparse pubic ... OMIM:190360
Immunodeficiency 75
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Kerion Celsi
Lymphadenopathy ORPHA:499
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia, Alopecia of scalp OMIM:617294
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Alopecia universalis, Congenital alopecia totalis OMIM:104130
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Retinitis Pigmentosa 81
Pallor OMIM:617871
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Bullous Dystrophy, Hereditary Macular Type
Microcephaly, Abnormality of the nail, Alopecia totalis OMIM:302000
Ectodermal Dysplasia 4, Hair/Nail Type
Brittle hair, Temporal hypotrichosis, Pili torti, Absent eyelashes, Congenital onychodystrophy, S... OMIM:602032
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Congenital alopecia totalis, Nail pits, Ridged nail ORPHA:169095
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
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
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Abnormal toenail morphology, Fine hair, Alopecia, Abnormal fingernail m... ORPHA:248
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Granulomatous Slack Skin
Abnormality of the lymph nodes, Nephrocalcinosis, Acute kidney injury ORPHA:33111
Candidiasis, Familial, 1
Alopecia OMIM:114580
L-Ferritin Deficiency
Alopecia OMIM:615604
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Chilblain Lupus 1
Raynaud phenomenon, Skin ulcer, Abnormality of the nail OMIM:610448
Ectodermal Dysplasia 7, Hair/Nail Type
Brittle hair, Sparse eyebrow, Dystrophic toenail, Onycholysis, Sparse eyelashes, Dystrophic finge... OMIM:614929
Dyskeratosis Congenita, Autosomal Recessive 6
Microcephaly, Sparse hair, Alopecia, Nail dystrophy OMIM:616353
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Hypoplastic toenails, Alopecia, Fatigable weakness, Toenail dysplasia, Fingernail dysplasia, Spar... ORPHA:2325
Oliver-Mcfarlane Syndrome
Long eyebrows, Long eyelashes, Alopecia, Sparse hair, Decreased response to growth hormone stimul... OMIM:275400
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Patchy alopecia, Erythema, Scarring alopecia of scalp ORPHA:346
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Facial erythema, Nail dystrophy, Alopecia totalis, Dry skin OMIM:212360
Pili Torti-Onychodysplasia Syndrome
Brittle hair, Absent eyelashes, Congenital onychodystrophy, Sparse body hair, Absent eyebrow, Nai... ORPHA:2890
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis OMIM:618852
Erythrokeratodermia Variabilis
Generalized hirsutism, Abnormality of the nail, Abnormal hair morphology, Erythema, Microcephaly,... ORPHA:317
Brittle hair, Nail dysplasia, Nail dystrophy, Abnormality of hair texture, Alopecia, Sparse hair OMIM:158000
Moynahan Syndrome
Microcephaly, Sparse hair, Alopecia ORPHA:2574
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail pits, Nail dystrophy OMIM:601705
Ectodermal Dysplasia-Syndactyly Syndrome 1
Small nail, Patchy alopecia, Coarse hair, Pili torti, Hypoplastic toenails, Sparse eyebrow, Alope... OMIM:613573
Pili Torti
Abnormality of the nail, Brittle hair, Pili torti, Abnormality of hair texture, Alopecia, Abnorma... ORPHA:2889
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Marie Unna Hereditary Hypotrichosis
Coarse hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Sparse or absent eyelashes, Sparse scal... ORPHA:444
Crandall Syndrome
Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Alopecia ORPHA:202
Alopecia-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Alopecia, Microcephaly, Sparse scalp hair, S... ORPHA:2850
Deafness-Craniofacial Syndrome
Alopecia OMIM:125230
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Absent pubic hair, Sparse eyebrow, Cutis laxa, Scaling skin, Absent axillary hair, Alopecia of sc... ORPHA:2269
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Nail dysplasia, Sparse eyebrow, Palmoplantar erythema, Alopecia, Leukonychia, Spars... OMIM:104100
Clouston Syndrome
Small nail, Absent pubic hair, Brittle hair, Nail dysplasia, Sparse eyebrow, Fine hair, Slow-grow... OMIM:129500
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Nephropathy ORPHA:100024
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Telangiectasia, Ridged nail, Alopecia OMIM:614564
Pseudoprogeria Syndrome
Absent eyelashes, Sparse eyebrow, Absent eyebrow, Microcephaly, Alopecia, Sparse hair ORPHA:2985
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Classic Mycosis Fungoides
Abnormality of the nail, Erythema, Alopecia, Skin ulcer, Dry skin ORPHA:2584
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Ridged fingernail, Fingernail dysplasia, Alopecia, Sparse hair ORPHA:2251
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Porphyria Cutanea Tarda
Facial hypertrichosis, Onycholysis, Alopecia OMIM:176100
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Buerger Disease
Skin ulcer ORPHA:36258
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Leukoencephalopathy, Diffuse white matter abnormalities, Alopecia OMIM:600142
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Abnormality of the nail, Patchy alopecia, Brittle hair, Abnormal eyelash morphology, Fine hair, S... ORPHA:573
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:97290
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy OMIM:615895
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Dystrophic toenail, Sparse eyebrow, Fine hair, Alopecia, Dystrophic fingernails, Sparse scalp hair ORPHA:1882
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Microcephaly, Alopecia OMIM:612079
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Rhizomelic Chondrodysplasia Punctata
Microcephaly, Sparse body hair, Dry skin, Alopecia ORPHA:177
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Menkes Disease
Brittle hair, Cutis laxa, Microcephaly, Alopecia, Sparse hair, Intracranial hemorrhage OMIM:309400
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:319487
Telangiectasia of the skin, Skin ulcer, Excessive wrinkled skin, Fine hair ORPHA:2500
Keratoderma Hereditarium Mutilans
Self-injurious behavior, Abnormality of the nail, Abnormal toenail morphology, Alopecia ORPHA:494
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Skin ulcer, Acral ulceration ORPHA:139578
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Alopecia OMIM:617763
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Hereditary Bullous Dystrophy, Macular Type
Atrichia, Nail dystrophy, Microcephaly, Heart murmur, Alopecia, Congenital abnormal hair pattern ORPHA:1867
Nicolaides-Baraitser Syndrome
Long eyelashes, Abnormal hair pattern, Highly arched eyebrow, Curly eyelashes, Microcephaly, Alop... ORPHA:3051
Flynn-Aird Syndrome
Alopecia of scalp, Alopecia OMIM:136300
Autosomal Dominant Hypocalcemia
Abnormality of the nail, Arrhythmia, Congestive heart failure, Anxiety, Hypotension, Emotional la... ORPHA:428
Acrodermatitis Enteropathica
Abnormality of the nail, Erythema, Emotional lability, Ridged fingernail, Cerebral cortical atrop... ORPHA:37
Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:98293
Flynn-Aird Syndrome
Cerebral calcification, Skin ulcer, Cerebral cortical atrophy, Alopecia ORPHA:2047
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Schöpf-Schulz-Passarge Syndrome
Aplasia/Hypoplasia of the eyebrow, Facial telangiectasia, Sparse hair, Alopecia ORPHA:50944
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Scarring alopecia of scalp, Nail dysplasia, Sparse eyebrow, Facial erythema, Nail dystrophy, Spar... OMIM:612843
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Abnormal Hair, Joint Laxity, And Developmental Delay
Small nail, Sinus bradycardia, Pili torti, Sparse lateral eyebrow, Aggressive behavior, Trichorrh... OMIM:261990
Pseudopelade Of Brocq
Abnormality of the nail, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Alopecia, S... ORPHA:129
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Skin ulcer ORPHA:231
Juvenile Hyaline Fibromatosis
Abnormal hair morphology, Skin ulcer ORPHA:2028
Hypomelanosis Of Ito
Microcephaly, Cerebral atrophy, Alopecia OMIM:300337
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Alopecia, Nail dystrophy ORPHA:79397
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen ORPHA:543
Autoimmune Lymphoproliferative Syndrome, Type Iii
Stage 5 chronic kidney disease, Hepatosplenomegaly, Nephrotic syndrome, Splenomegaly, Generalized... OMIM:615559
Bjornstad Syndrome
Brittle hair, Coarse hair, Pili torti, Alopecia, Hair shafts flattened at irregular intervals and... OMIM:262000
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Dermatoosteolysis, Kirghizian Type
Skin ulcer, Nail dysplasia, Nail dystrophy OMIM:221810
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Fatigable weakness, Alopecia, Hypoplastic fingernail, Skin vesicle ORPHA:257
Familial Multiple Nevi Flammei
Cerebral calcification, Arrhythmia, Pulmonary embolism, Skin ulcer, Intracranial hemorrhage ORPHA:624
Alopecia-Intellectual Disability Syndrome 4
Microcephaly, Hypoplasia of the corpus callosum, Alopecia OMIM:618840
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura ORPHA:743
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormality of the nail, Absent eyelashes, Absent eyebrow, Palmar telangiectasia, Toenail dysplas... OMIM:607823
Hair-pulling, Alopecia OMIM:613229
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Pigmented Nodular Adrenocortical Disease, Primary, 4
Emotional lability, Hypertension, Alopecia, Depression, Hirsutism OMIM:615830
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Abnormality of the nail, Sparse eyebrow, Sparse eyelashes, Alopecia OMIM:129540
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Lack of skin elasticity, Alopecia totalis, Nail dystrophy ORPHA:1366
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Small nail, Dysplastic corpus callosum, Periventricular cysts, Hypoplastic toenails, Absent eyela... ORPHA:544488
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Alopecia OMIM:164180
Lichen Planopilaris
Skin ulcer, Abnormal fingernail morphology, Onycholysis, Alopecia ORPHA:525
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Adult Syndrome
Abnormality of the nail, Absent nipple, Sparse scalp hair, Fine hair, Nail pits, Hypoplastic nipp... ORPHA:978
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Nail dystrophy OMIM:618373
Rhizomelic Chondrodysplasia Punctata, Type 1
Microcephaly, Cerebral cortical atrophy, Alopecia OMIM:215100
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:613101
Immunodeficiency 64
Hepatosplenomegaly, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Mediastinal lymphade... OMIM:618534
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Splenomegaly, Lymphadenopathy OMIM:240500
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Lymphadenopathy ORPHA:56425
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Telangiectasia of the skin, Skin ulcer, Mucosal telangiectasiae ORPHA:220402
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy OMIM:300853
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy OMIM:603552
Takayasu Arteritis
Hypertrophic cardiomyopathy, Myocardial infarction, Hypertensive crisis, Pulmonary arterial hyper... ORPHA:3287
Immunodeficiency, Common Variable, 12, With Autoimmunity
Pyoderma gangrenosum, Alopecia OMIM:616576
Polyarteritis Nodosa
Erythema, Cardiomyopathy, Hypertension, Pericarditis, Raynaud phenomenon, Skin ulcer ORPHA:767
Cronkhite-Canada Syndrome
Patchy alopecia, Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Dystrophic toenail, Spa... ORPHA:2930
Frontonasal Dysplasia 2
Hypoplasia of the corpus callosum, Sparse eyebrow, Microcephaly, Sparse eyelashes, Alopecia, Spar... OMIM:613451
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Brittle hair, Abnormality of the anterior pituitary, Coarse hair, Posterior pituitary hypoplasia,... ORPHA:75389
Pallor, Skin ulcer, Hypertrophic cardiomyopathy, Irritability ORPHA:848
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Plantar telangiectasia, Sparse scalp hair, Sparse body hair, Absent eyebrow, Al... ORPHA:69735
Skin Fragility-Woolly Hair Syndrome
Woolly hair, Nail dysplasia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Alopecia OMIM:607655
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Thick hair, Sparse eyelashes, Alopecia, Sparse hair, Dry skin OMIM:607626
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Microcephaly, Brittle hair, Alopecia ORPHA:50812
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:209950
Chilblain Lupus
Raynaud phenomenon, Skin ulcer ORPHA:90280
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Sparse hair, Alopecia, Skin ulcer, Abnormal fingernail morphology ORPHA:659
Centrifugal Lipodystrophy
Erythema, Scaling skin, Alopecia ORPHA:90156
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Congestive heart failure, Alopecia OMIM:176670
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Absent tonsils ORPHA:277
Leukocyte Adhesion Deficiency, Type Iii
Abnormality of the lymph nodes, Hepatosplenomegaly, Splenomegaly OMIM:612840
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Alopecia, Bipolar affective disorder, Depression, Decreased response to ... OMIM:601853
Heme Oxygenase 1 Deficiency
Hematuria, Proteinuria, Cervical lymphadenopathy, Nephritis, Lymphadenopathy, Asplenia OMIM:614034
Bathing Suit Ichthyosis
Sparse hair, Scaling skin, Alopecia, Nail dystrophy ORPHA:100976
Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Anxiety, Myocarditis, Acral ulc... ORPHA:801
Idiopathic Trachyonychia
Abnormality of the periungual region, Patchy alopecia, Nail pits, Nail dystrophy, Thin nail, Circ... ORPHA:79153
Necrobiosis Lipoidica
Skin ulcer, Erythema ORPHA:542592
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Renpenning Syndrome
Abnormal hair laboratory examination, Thin eyebrow, Microcephaly, Alopecia ORPHA:3242
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Splenomegaly, Lymphadenopathy OMIM:619375
Juvenile Dermatomyositis
Pericarditis, Gastrointestinal hemorrhage, Mucosal telangiectasiae, Arrhythmia, Erythema, Bundle ... ORPHA:93672
Olmsted Syndrome 1
Nail dysplasia, Nail dystrophy, Alopecia universalis, Sparse hair, Subungual hyperkeratosis OMIM:614594
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Lymphadenopathy, Hematuria ORPHA:654
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Alopecia OMIM:615704
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Adams-Oliver Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Absent fingernail, Porencephalic cyst, Pulmonar... ORPHA:974
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypoplasia of the corpus callosum, Absent eyelashes, Nail dysplasia, Absent eyebrow, Nail dystrop... OMIM:308205
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer ORPHA:312
Monosomy 18P
Microcephaly, Hypertension, Low posterior hairline, Alopecia ORPHA:1598
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Cerebral calcification, Nail dysplasia, Fine hair, Microcephaly, Alope... OMIM:613990
Incontinentia Pigmenti
Abnormality of the nail, Retinal hemorrhage, Congestive heart failure, Abnormal hair morphology, ... ORPHA:464
Reticular Dysgenesis
Skin ulcer ORPHA:33355
Johnson Neuroectodermal Syndrome
Absent eyelashes, Absent eyebrow, Microcephaly, Alopecia, Sparse hair ORPHA:2316
Johnson Neuroectodermal Syndrome
Absent eyelashes, Absent eyebrow, Microcephaly, Alopecia, Sparse hair OMIM:147770
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Striae distensae, Emotional lability, Hypertension, Pituitary adenoma, Alopecia, Depression, Hirs... ORPHA:189427
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Giant Cell Arteritis
Arrhythmia, Sudden cardiac death, Alopecia, Vasculitis, Pericarditis, Cerebral ischemia, Skin ulc... ORPHA:397
Classic Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:391
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Microcephaly, Patchy alopecia, Aggressive behavior ORPHA:85279
Ollier Disease
Skin ulcer ORPHA:296
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Nail dysplasia, Alopecia, Nail dystrophy OMIM:242300
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Hemochromatosis, Type 1
Arrhythmia, Congestive heart failure, Cardiomyopathy, Alopecia, Telangiectasia OMIM:235200
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormal corpus callosum morphology, Supernumerary nipple, Cerebral cortical atrophy, Alopecia ORPHA:3224
Hereditary Mucoepithelial Dysplasia
Sparse hair, Fine hair, Alopecia ORPHA:1839
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Alopecia OMIM:618282
Prolidase Deficiency
Generalized hirsutism, Erythema, White forelock, Low anterior hairline, Hirsutism, Skin ulcer, Ab... ORPHA:742
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Pyoderma gangrenosum, Shock, Internal hemorrhage ORPHA:49566
Brooke-Spiegler Syndrome
Skin appendage neoplasm, Trichoepithelioma, Skin ulcer, Cylindroma ORPHA:79493
Ichthyosis, Congenital, Autosomal Recessive 2
Small nail, Abnormal hair morphology, Erythema, Thin nail, Alopecia OMIM:242100
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Macs Syndrome
Sparse eyebrow, Cutis laxa, Alopecia, Sparse hair, Redundant skin OMIM:613075
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Agenesis of corpus callosum, Fine hair, Alopecia ORPHA:228390
Keratoderma Hereditarium Mutilans With Ichthyosis
Scaling skin on fingertip, Onychogryposis, Alopecia, Nail dystrophy ORPHA:79395
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Cervica... ORPHA:3392
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy, Proteinuria ORPHA:69126
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Sparse eyebrow, Absent eyebrow, Sparse eyelashes, Telangiectasia of extensor su... OMIM:137940
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Small nail, Absent eyelashes, Absent eyebrow, Cerebral cortical atrophy, Heart murmur, Alopecia ORPHA:166035
Dermatoosteolysis, Kirghizian Type
Skin ulcer, Dystrophic toenail, Dystrophic fingernails, Abnormality of the nail ORPHA:1657
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymph nodes, Abnormality of the lymphatic system ORPHA:54251
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Rhabdoid Tumor
Lymphadenopathy, Hematuria ORPHA:69077
Primary Pigmented Nodular Adrenocortical Disease
Striae distensae, Emotional lability, Hypertension, Pituitary adenoma, Alopecia, Depression, Hirs... ORPHA:189439
Sézary Syndrome
Nail dystrophy, Dry skin, Alopecia ORPHA:3162
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Cavum septum pellucidum, Sparse eyebrow, Sparse scalp hair, Right bundle branc... OMIM:614008
Familial Keratoacanthoma
Skin ulcer ORPHA:493
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Orthostatic hypotension, Penetrating foot ulcers, Abnormal atrioventricular conduction, Degenerat... OMIM:118301
Pyoderma Gangrenosum
Skin ulcer, Skin vesicle ORPHA:48104
Prolidase Deficiency
Petechiae, Diffuse telangiectasia, Facial hirsutism, Skin ulcer, Low posterior hairline OMIM:170100
Hereditary Sensory And Autonomic Neuropathy Type 1
Skin ulcer, Penetrating foot ulcers ORPHA:36386
Attenuated Chédiak-Higashi Syndrome
Skin ulcer, Epistaxis ORPHA:352723
Cushing Disease
Suicidal ideation, Pituitary corticotropic cell adenoma, Capillary fragility, Ecchymosis, Striae ... ORPHA:96253
Cryoglobulinemic Vasculitis
Petechiae, Gastrointestinal hemorrhage, Vasculitis, Skin ulcer, Purpura ORPHA:91138
Ane Syndrome
Motor neuron atrophy, Pituitary hypothyroidism, Anterior pituitary hypoplasia, Microcephaly, Redu... ORPHA:157954
Combined Immunodeficiency Due To Dock8 Deficiency
Skin ulcer ORPHA:217390
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Hepatosplenomegaly, Nephrotic syndrome, Lymphadenopathy, Abnormality of the lymph ... ORPHA:911
Hypervitaminosis A, Susceptibility To
Alopecia totalis OMIM:240150
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Myocarditis, Myocardial infarction, Pulmonary arterial hypertension, Transien... ORPHA:464343
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Autoimmune Polyendocrinopathy Type 1
Cerebral calcification, Abnormal fingernail morphology, Alopecia ORPHA:3453
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Pili torti, Sparse lateral eyebrow, Aplasia/Hypoplasia of the eyebrow, Dystrophic toenail, Highly... ORPHA:3253
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Aortic valve stenosis, Congestive heart failure, Absent eyelashes, Abs... ORPHA:363618
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:615122
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Lymphadenitis, Nephrotic syndrome, Splenomegaly, Recurrent tonsillitis, Lymph... OMIM:618935
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Nephrotic syndrome, Proteinuria, Decreased glomerular filtration rate, Noctur... ORPHA:85450
Pallor, Skin ulcer ORPHA:507
Holocarboxylase Synthetase Deficiency
Irritability, Alopecia ORPHA:79242
Fibrodysplasia Ossificans Progressiva
Basal ganglia calcification, Alopecia OMIM:135100
Isolated Agammaglobulinemia
Skin ulcer ORPHA:229717
Bresek Syndrome
Microcephaly, Alopecia ORPHA:85284
X-Linked Agammaglobulinemia
Skin ulcer, Alopecia ORPHA:47
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Erythema, Vasculitis, Pericard... ORPHA:727
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Boutonneuse Fever
Lymphadenopathy, Cervical lymphadenopathy, Renal insufficiency ORPHA:83313
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Abnormal atrioventricular conduction, Penetrating foot ulcers, Atrioventricular block OMIM:118230
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Nephrotic syndrome, Hemolytic-uremic syndrome, Lymphadenopathy, Renal insuffi... OMIM:619644
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer, Abnormal fingernail morphology, Fine hair, Sparse hair ORPHA:1806
Omenn Syndrome
Hypoplasia of the thymus, Splenomegaly, Lymphadenopathy OMIM:603554
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephrotic syndrome, Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ... OMIM:603909
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormality of the periungual region, Abnormal size of pituitary gland, Hypotension, Nail dystrop... ORPHA:293978
Progressive Supranuclear Palsy
Impulsivity, Abnormal synaptic transmission, Depression, Cerebral cortical atrophy ORPHA:683
Keutel Syndrome
Pulmonary arterial hypertension, Alopecia ORPHA:85202
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Mucoepithelial Dysplasia, Hereditary
Coarse hair, Nail dysplasia, Chronic monilial nail infection, Nail dystrophy, Melena, Alopecia, C... OMIM:158310
Leigh Syndrome
Hypoplasia of the corpus callosum, Hypertrichosis, Agenesis of corpus callosum, Frontal hirsutism... ORPHA:506
Skin ulcer ORPHA:280062
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer, Intestinal bleeding ORPHA:424019
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pyoderma gangrenosum OMIM:604416
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Parietal cortical atrophy, Corpus callosum atrophy, Alopecia ORPHA:412057
Systemic Sclerosis
Raynaud phenomenon, Nail bed telangiectasia, Myocarditis, Acral ulceration, Pulmonary arterial hy... ORPHA:90291
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Congenital Non-Bullous Ichthyosiform Erythroderma
Abnormality of the nail, Alopecia ORPHA:79394
Encephalocraniocutaneous Lipomatosis
Agenesis of corpus callosum, Porencephalic cyst, Alopecia, Cortical dysplasia, Hypoplasia of the ... OMIM:613001
Omenn Syndrome
Aplasia/Hypoplasia of the eyebrow, Dry skin, Alopecia ORPHA:39041
Mandibulofacial Dysostosis With Alopecia
Sparse eyelashes, Sparse eyebrow, Alopecia OMIM:616367
Castleman Disease
Hematuria, Generalized lymphadenopathy, Follicular hyperplasia, Lymphadenopathy, Ureteral obstruc... ORPHA:160
Multiple Carboxylase Deficiency
Alopecia ORPHA:148
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Myocarditis, Alopecia, Pulmonary arterial hypertension, Pericarditis... ORPHA:809
Oculocerebrocutaneous Syndrome
Aplasia/Hypoplasia of the corpus callosum, Polymicrogyria, Abnormal fingernail morphology, Alopecia ORPHA:1647
Abnormal cerebral white matter morphology, Alopecia OMIM:300100
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Dyskeratosis Congenita
Premature graying of hair, Cerebral calcification, Abnormal eyelash morphology, Sparse hair, Nail... ORPHA:1775
Infantile Myofibromatosis
Abnormal hair morphology, Skin ulcer ORPHA:2591
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Bartsocas-Papas Syndrome
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Microcephaly, Sparse or absent eyelashes... ORPHA:1234
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Microcephaly, Sparse hair, Abnormal toenail morphology, Alopecia ORPHA:1005
Scrub Typhus
Splenomegaly, Lymphadenopathy, Renal insufficiency ORPHA:83317
Autosomal Dominant Hyper-Ige Syndrome
Abnormal hair morphology, Dystrophic fingernails, Skin ulcer, Skin vesicle, Paronychia ORPHA:2314
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcephaly, Abnormality of thalamus morphology, Alopecia, Low posterior hairline, Supraventricu... ORPHA:2959
Bleeding Disorder, Platelet-Type, 21
Alopecia OMIM:617443
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:3226
Gapo Syndrome
Nail dysplasia, Sparse eyebrow, Hypoplastic nipples, Sparse eyelashes, Alopecia, Sparse hair, Red... OMIM:230740
Incontinentia Pigmenti
Atrophic, patchy alopecia, Coarse hair, Retinal hemorrhage, Supernumerary nipple, Erythema, Nail ... OMIM:308300
Short Syndrome
Sparse hair, Excessive wrinkled skin, Alopecia ORPHA:3163
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Arrhythmia, High-output congestive heart failure, Hypopituitarism, Irrita... ORPHA:231226
Werner Syndrome
Premature graying of hair, Pili torti, Congestive heart failure, White forelock, Myocardial infar... ORPHA:902
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Impaired myocardial contractility, Absent fingernail, Absent eyelashes, Absent... ORPHA:158687
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Nail dysplasia, Nail dystrophy, Alopecia OMIM:175500
Diffuse Cutaneous Systemic Sclerosis
Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hypertension, Hypertensi... ORPHA:220393
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy OMIM:617718
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy, Calcium nephrolithiasis, Neop... ORPHA:97289
Colchicine Poisoning
Hypovolemia, Arrhythmia, Congestive heart failure, Cardiogenic shock, Myocarditis, Hypotension, A... ORPHA:31824
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer ORPHA:86884
Satoyoshi Syndrome
Abnormal hair morphology, Microcephaly, Alopecia universalis, Sparse or absent eyelashes ORPHA:3130
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Pyoderma gangrenosum, Erythema, Small vessel vasculitis OMIM:608068
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Sparse eyebrow, Sparse pubic hair, Microcephaly, Increased circulating gon... ORPHA:2232
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Alopecia totalis OMIM:300918
Encephalocraniocutaneous Lipomatosis
Cerebral calcification, Cerebral atrophy, Agenesis of corpus callosum, Absent septum pellucidum, ... ORPHA:2396
Adams-Oliver Syndrome 1
Small nail, Hypoplasia of the corpus callosum, Supernumerary nipple, Pulmonic stenosis, Microceph... OMIM:100300
Alstrom Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertension, Alopecia, Decreased response to g... OMIM:203800
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Dry skin, Abnormal hair quantity, Alopecia ORPHA:457059
Celiac Disease, Susceptibility To, 1
Cerebral calcification, Anxiety, Depression, Alopecia OMIM:212750
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia OMIM:608612
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Fragile nails, Alopecia OMIM:242150
Olmsted Syndrome 2
Alopecia universalis, Woolly hair, Sparse hair OMIM:619208
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Holocarboxylase Synthetase Deficiency
Irritability, Alopecia OMIM:253270
Beta-Thalassemia Major
Dilated cardiomyopathy, Arrhythmia, High-output congestive heart failure, Hypopituitarism, Irrita... ORPHA:231214
Livedoid Vasculopathy
Macular purpura, Ecchymosis, Telangiectasia of the skin, Hypertension, Skin ulcer, Ischemic stroke ORPHA:542643
Chronic Mucocutaneous Candidiasis
Abnormality of the nail, Broad nail, Erythema, Abnormal toenail morphology, Skin ulcer, Abnormal ... ORPHA:1334
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Rapp-Hodgkin Syndrome
Small nail, Fine hair, Onychogryposis, Decreased number of sweat glands, Pili canaliculi, Sparse ... OMIM:129400
Griscelli Syndrome
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:381
Abnormality of the nail, Sinus tachycardia, Arrhythmia, Erythema, Myocarditis, Myocardial infarct... ORPHA:221
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Alopecia ORPHA:169154
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Abnormality of the lymph nodes ORPHA:677
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Cerebral edema, Abnormality of the basal ganglia, Arrhythmia, E... ORPHA:68
Hallermann-Streiff Syndrome
Congestive heart failure, Sparse eyebrow, Sparse body hair, Abnormality of hair texture, Microcep... ORPHA:2108
Behcet Syndrome
Raynaud phenomenon, Patchy alopecia, Erythema, Irritability OMIM:109650
Dyskeratosis Congenita, Autosomal Dominant 1
Premature graying of hair, Nail pits, Nail dystrophy, Alopecia, Sparse hair, Ridged nail OMIM:127550
Cyclic Neutropenia
Lymphadenopathy, Cervical lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Immunodeficiency, Common Variable, 10
Trachyonychia, Decreased response to growth hormone stimulation test, Alopecia totalis OMIM:615577
Schimmelpenning-Feuerstein-Mims Syndrome
Hemimegalencephaly, Alopecia OMIM:163200
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Prolonged PR interval, Early balding, Dilated cardiomyopat... ORPHA:273
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail OMIM:609638
Hypocomplementemic Urticarial Vasculitis
Hematuria, Proteinuria, Splenomegaly, Lymphadenopathy, Renal insufficiency ORPHA:36412
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Pachyonychia Congenita
Onychogryposis of fingernail, Nail dystrophy, Onychogryposis of toenails, Fingernail dysplasia, A... ORPHA:2309
Primary Myelofibrosis
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy ORPHA:824
Free Sialic Acid Storage Disease
Skin ulcer ORPHA:834
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Alopecia ORPHA:453533
Legionnaires Disease
Bone marrow hypocellularity, Hematuria, Proteinuria, Splenomegaly, Lymphadenopathy, Renal insuffi... ORPHA:549
Mandibuloacral Dysplasia With Type A Lipodystrophy
Absent eyelashes, Breast aplasia, Alopecia, Abnormal eyebrow morphology, Lack of skin elasticity ORPHA:90153
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Orofaciodigital Syndrome I
Abnormal cortical gyration, Hypothalamic hamartoma, Cerebral atrophy, Agenesis of corpus callosum... OMIM:311200
Fair hair, Long eyelashes, Alopecia, Hypoplasia of the corpus callosum, Hirsutism ORPHA:79330
X-Linked Dominant Chondrodysplasia Punctata
Abnormality of the nail, Patchy alopecia, Coarse hair, Scarring alopecia of scalp, Abnormal hair ... ORPHA:35173
Reynolds Syndrome
Telangiectasia of the skin, Skin ulcer, Mucosal telangiectasiae ORPHA:779
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Absent eyelashes, Sparse eyebrow, Sparse scalp hair, Absent eyebrow, N... OMIM:268400
Gapo Syndrome
Early balding, Sparse eyelashes, Sparse eyebrow, Alopecia ORPHA:2067
Johanson-Blizzard Syndrome
Microcephaly, Abnormal hair pattern, Alopecia ORPHA:2315
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy ORPHA:169090
Linear Nevus Sebaceus Syndrome
Aplasia/Hypoplasia of the corpus callosum, Porencephalic cyst, Cerebral calcification, Alopecia ORPHA:2612
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen ORPHA:79456
Lymphatic Filariasis
Lymphadenitis, Nephrotic syndrome, Hematuria, Proteinuria, Lymphangiectasis, Glomerulonephritis, ... ORPHA:2035
Mandibuloacral Dysplasia
Hypoplastic fingernail, Sparse hair, Alopecia ORPHA:2457
Wiskott-Aldrich Syndrome
Hematochezia, Petechiae, Recurrent intrapulmonary hemorrhage, Arrhythmia, Purpura, Sudden cardiac... ORPHA:906
Aggressive Systemic Mastocytosis
Hypersplenism, Hepatosplenomegaly, Lymphadenopathy ORPHA:98850
Penetrating foot ulcers, Sparse body hair, Loss of eyelashes, Acral ulceration, Absent eyebrow, A... ORPHA:548
Felty Syndrome
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:47612
H Syndrome
Hypertrichosis, Abnormal cardiovascular system physiology, Alopecia, Facial telangiectasia, Abnor... ORPHA:168569
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Patchy alopecia, Scaling skin, Alopecia universalis OMIM:606367
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Bradycardia, Persistent fetal circulation, Hypertrophic cardiomyopathy, Alopecia totalis OMIM:618775
Beta-Thalassemia Intermedia
Pallor, Skin ulcer, Pulmonary arterial hypertension, High-output congestive heart failure ORPHA:231222
Cinca Syndrome
Splenomegaly, Lymphadenopathy ORPHA:1451
Lig4 Syndrome
Hypoplasia of penis, Lymphadenopathy ORPHA:99812
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia universalis, Nail dystrophy, Alopecia OMIM:240300
Orofaciodigital Syndrome Type 1
Brittle hair, Coarse hair, Agenesis of corpus callosum, Hypertension, Alopecia, Sparse hair, Dry ... ORPHA:2750
Hyper-Igd Syndrome
Renal angiomyolipoma, Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Elevated urine mevalonic a... OMIM:260920
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Alopecia ORPHA:93552
Xeroderma Pigmentosum
Erythema, Conjunctival telangiectasia, Microcephaly, Telangiectasia of the skin, Cerebral cortica... ORPHA:910
Niemann-Pick Disease, Type A
Splenomegaly, Lymphadenopathy OMIM:257200
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Lymphadenopathy OMIM:304790
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils OMIM:308230
Atypical Werner Syndrome
Premature graying of hair, Pili torti, Congestive heart failure, Abnormal hair morphology, Aplasi... ORPHA:79474
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hirsutism, Hypertension, Alopecia ORPHA:90795
Biotinidase Deficiency
Diffuse cerebral atrophy, Alopecia OMIM:253260
Hereditary Spherocytosis
Pallor, Skin ulcer, Restrictive cardiomyopathy ORPHA:822
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Nail dystrophy, Alopecia OMIM:226600
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis, Irritability OMIM:277440
Acute Monoblastic/Monocytic Leukemia
Oliguria, Cervical lymphadenopathy ORPHA:514
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the nail, Cerebral cortical hemiatrophy, Agenesis of corpus callosum, Hyperconvex ... ORPHA:2273
Woodhouse-Sakati Syndrome
Abnormal T-wave, Fine hair, Elevated circulating thyroid-stimulating hormone concentration, Alope... OMIM:241080
Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Gastrointestinal hemorrhage, Arrhythmia, Hypertension, Vascu... ORPHA:900
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Nephrotic syndrome, Lymphadenopathy, Renal insufficiency ORPHA:139402
Dilated cardiomyopathy, Socially inappropriate behavior, Caudate atrophy, Abnormal putamen morpho... ORPHA:2388
Granulomatosis With Polyangiitis
Localized pulmonary hemorrhage, Skin ulcer, Diffuse alveolar hemorrhage, Retinal hemorrhage OMIM:608710
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Patchy alopecia, Low frustration tolerance, Thick eyebrow, Aggressive behavior, Microcephaly OMIM:300534
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
African Trypanosomiasis
Second degree atrioventricular block, Arrhythmia, Congestive heart failure, Abnormal EKG, Third d... ORPHA:3385
Hajdu-Cheney Syndrome
Generalized hirsutism, Coarse hair, Thick eyebrow, Low anterior hairline, Mitral stenosis, Synoph... ORPHA:955
Koolen-De Vries Syndrome Due To A Point Mutation
Fair hair, Hypoplasia of the corpus callosum, Pineal cyst, Agenesis of corpus callosum, Anxiety, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Fair hair, Hypoplasia of the corpus callosum, Pineal cyst, Agenesis of corpus callosum, Anxiety, ... ORPHA:363958
Angioosteohypertrophic Syndrome
Gastrointestinal hemorrhage, Congestive heart failure, Pulmonary embolism, Microcephaly, Telangie... ORPHA:2346
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Lymphadenopathy, Abnormal renal physiology ORPHA:540
Cushing Syndrome Due To Ectopic Acth Secretion
Suicidal ideation, Capillary fragility, Ecchymosis, Striae distensae, Anxiety, Fatiguable weaknes... ORPHA:99889
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia ORPHA:93160
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patchy alopecia, Absent eyelashes, Supernumerary nipple, Anonychia, Sparse body hair, Nail dystro... OMIM:106260
Chime Syndrome
Erythema, Fine hair, Sparse hair, Cerebral cortical atrophy, Skin ulcer ORPHA:3474
Limb-Mammary Syndrome
Absent nipple, Nail dysplasia, Sparse eyebrow, Hypoplastic nipples, Breast aplasia, Alopecia, Dry... ORPHA:69085
Infantile Systemic Hyalinosis
Telangiectasia of the skin, Skin ulcer ORPHA:2176
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Patchy alopecia, Loss of eyelashes, Hypertension, Mitral s... ORPHA:740
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormal hair morphology, Abnormal eyelash morphology, Abnormal toenail morphology, Microcephaly,... ORPHA:2526
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal hair morphology, Nail dystrophy, Alopecia ORPHA:90154
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Elevated urine mevalonic acid OMIM:610377
Leukocyte Adhesion Deficiency, Type I
Skin ulcer OMIM:116920
Focal Dermal Hypoplasia
Telangiectasia of the skin, Abnormality of the nail, Erythema, Alopecia ORPHA:2092
Aregenerative Anemia
Lymphadenopathy, Bone marrow hypocellularity ORPHA:101096
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:233710
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Erythema, Vasculitis, Skin ulcer, Purpura ORPHA:761
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Lymphadenitis, Generalized lymphadenopathy OMIM:618986
Bartsocas-Papas Syndrome 1
Small nail, Absent eyelashes, Sparse scalp hair, Anonychia, Absent eyebrow, Alopecia totalis, Alo... OMIM:263650
Hereditary Acrokeratotic Poikiloderma
Erythema, Dystrophic toenail, Nail dystrophy, Telangiectasia of the skin, Dystrophic fingernails,... ORPHA:2907
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Lymphadenopathy, Generalized lymphadenopathy OMIM:614700
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormality of the nail, Erythema, Alopecia OMIM:308050
Neutral Lipid Storage Disease With Ichthyosis
Cardiomyopathy, Alopecia ORPHA:98907
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Chronic Granulomatous Disease
Skin ulcer ORPHA:379
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Onychogryposis, Erythema, Nail dystrophy, Alopecia ORPHA:79396
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:233690
Autosomal Dominant Severe Congenital Neutropenia
Pyoderma gangrenosum ORPHA:486
Woodhouse-Sakati Syndrome
Abnormal T-wave, Aplasia/Hypoplasia of the eyebrow, Scaling skin, Alopecia, Decreased response to... ORPHA:3464
Classical-Like Ehlers-Danlos Syndrome Type 2
Redundant skin, Alopecia ORPHA:536532
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Portal hypertension, Vasculitis, Hypertension, Raynaud phenomenon, Skin u... OMIM:615688
Multiple Myeloma
Nephrotic syndrome, Acute kidney injury, Splenomegaly, Lymphadenopathy, Nephropathy ORPHA:29073
Acute Promyelocytic Leukemia
Lymphadenopathy, Hematuria ORPHA:520
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Relapsing Polychondritis
Erythema, Myocarditis, Alopecia, Large vessel vasculitis, Pericarditis, Purpura ORPHA:728
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy OMIM:617591
Urinary bladder inflammation, Hematuria, Proteinuria, Dysuria, Urinary hesitancy, Urinary urgency... ORPHA:556
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypoplasia of the corpus callosum, Primary microcephaly, Synophrys, Irritability, Secondary micro... ORPHA:447997
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome