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Gene: Lbr MGI:2138281

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Gene Summary

Name:
lamin B receptor
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Lbrem1(IMPC)Tcp HOM Early adult 0.00
small testis Lbrem1(IMPC)Tcp HOM Early adult 0.00
small seminal vesicle Lbrem1(IMPC)Tcp HOM Early adult 0.00
preweaning lethality, incomplete penetrance Lbrem1(IMPC)Tcp 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.

Histopathology

Images

25 Images

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Gross Pathology and Tissue Collection

Images

13 Images

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Human diseases caused by Lbr mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Immunodeficiency 40
Lymphopenia OMIM:616433
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Immunodeficiency 8
Lymphopenia OMIM:615401
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Reduced natural killer cell activity, Decreased... OMIM:614493
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Impaired neutrophil bactericid... OMIM:245480
Keratoderma Hereditarium Mutilans With Ichthyosis
Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Palmoplantar hyper... ORPHA:79395
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300400
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Oculotrichodysplasia
Sparse lateral eyebrow, Nail dysplasia, Sparse pubic hair, Trichodysplasia, Sparse eyelashes, Sca... OMIM:257960
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Cervical lymphadenopathy, Abnor... OMIM:618987
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Increased circulat... ORPHA:276
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Abnormality of the thymus, Decr... OMIM:611926
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... OMIM:247630
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Anemia, Renal... OMIM:613092
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Acrokeratoelastoidosis Of Costa
Epidermal acanthosis, Orthokeratosis, Palmar hyperhidrosis, Palmoplantar hyperkeratosis, Granulom... ORPHA:38
Nephrotic Syndrome, Type 24
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619263
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Decreased circulating antibody level, Anemia, B lymphocytope... ORPHA:169079
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Sparse scalp hair, Sparse body hair, Trich... ORPHA:3361
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Abnormality of B cell phy... OMIM:613179
Peeling Skin Syndrome 4
Epidermal acanthosis, Palmoplantar keratoderma, Ichthyosis, Orthokeratosis, Nail dystrophy, Hyper... OMIM:607936
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Decreased movement range in interphalangeal joints, Diffuse palmoplantar hyperkeratosis, Erythema... ORPHA:530838
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Mesangial hypercellularity, Proteinuria, Steroid-resistant neph... OMIM:619201
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
C1Q Deficiency
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Immunodeficiency 19
Lymphopenia OMIM:615617
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lack of T cell function, Absence of lymph node germinal center, Absent tonsils... ORPHA:277
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Tooth Agenesis, Selective, 8
Sparse hair, Sparse eyebrow, Dry skin OMIM:617073
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Panhypogammaglobulinemia, Aplasia of the thymus OMIM:602450
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulatin... OMIM:617514
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Ichthyosis, Congenital, Autosomal Recessive 5
Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Acanthocytosis, Co... OMIM:604777
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Epidermal acanthosis, Absent pubic hair, Sparse eyebrow, Cutis laxa, Scaling skin, Absent axillar... ORPHA:2269
Trichodysplasia-Xeroderma
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Alopecia, Slow-growing hair, Sparse pubic ... OMIM:190360
Rhizomelic Chondrodysplasia Punctata
Abnormality of epiphysis morphology, Rhizomelia, Epiphyseal stippling, Growth delay, Sparse body ... ORPHA:177
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Lymphopenia OMIM:619164
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased prop... OMIM:300853
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Increased circulating antibody level... OMIM:615285
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Abse... OMIM:606843
Odontoonychodermal Dysplasia
Epidermal acanthosis, Palmoplantar hyperhidrosis, Orthokeratosis, Erythema, Dystrophic toenail, F... OMIM:257980
Hypotrichosis 1
Sparse eyebrow, Sparse body hair, Sparse pubic hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Autoimmunity, Increased CD4:CD8 ratio, Nephrotic syndrome, Prot... OMIM:617006
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Immunodeficiency 55
Intrauterine growth retardation, Neutropenia, Short stature, Lymphadenopathy, Postnatal growth re... OMIM:617827
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Palmoplantar Keratoderma And Congenital Alopecia 2
Palmoplantar hyperkeratosis, Nail dysplasia, Facial erythema, Nail dystrophy, Alopecia totalis, C... OMIM:212360
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Epidermal acanthosis, Ichthyosis, Orthokeratosis, Parakeratosis, Thick hair, Sparse eyelashes, Al... OMIM:607626
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Abnormal trabecular bone mor... ORPHA:79106
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614196
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Transient n... OMIM:619707
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Ichthyosis, Congenital, Autosomal Recessive 6
Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Hyperkeratosis, Ge... OMIM:612281
Hidrotic Ectodermal Dysplasia
Cobblestone-like hyperkeratosis, Absent pubic hair, Anonychia, Fine hair, Absent axillary hair, A... ORPHA:189
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy OMIM:182690
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Ichthyosis, Congenital, Autosomal Recessive 8
Epidermal acanthosis, Ichthyosis, Orthokeratosis, Erythema, Hyperkeratosis, Hypergranulosis OMIM:613943
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Splenomegaly, Decreased circula... OMIM:607594
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Ichthyosis Vulgaris
Absent keratohyalin granules, Palmar hyperlinearity, Dry skin OMIM:146700
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Peeling Skin Syndrome 1
Brittle hair, Erythema, Onycholysis, Abnormality of hair texture, Short stature, Scaling skin OMIM:270300
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Clinodactyly, 2-5 finger cutaneous syndactyly, Symphalangism affecting the phalang... ORPHA:3246
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300755
Focal Segmental Glomerulosclerosis 9
Nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Agammaglobulinemia, Decreased circulating IgA level, Absent circ... OMIM:613500
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Lower limb undergrowth, Craniosynostosis, Dry skin OMIM:218650
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Short 5th finger, Syndactyly OMIM:186100
Bathing Suit Ichthyosis
Epidermal acanthosis, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Sca... ORPHA:100976
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Palmoplantar Keratoderma, Punctate Type Ia
Hypergranulosis, Epidermal acanthosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Hypotrichosis Simplex Of The Scalp
Epidermal acanthosis, Parakeratosis, Fine hair, Hyperkeratosis, Allergic rhinitis, Scaling skin, ... ORPHA:90368
Camptosynpolydactyly, Complex
Small nail, Cutaneous syndactyly, Nail dysplasia, Polydactyly, Toenail dysplasia, Camptodactyly, ... OMIM:607539
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Nephrotic Syndrome, Type 17
Proteinuria, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 chronic kidney ... OMIM:618176
Hypotrichosis Simplex
Sparse eyebrow, Sparse body hair, Alopecia, Sparse eyelashes, Sparse scalp hair, Sparse hair ORPHA:55654
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Hypotrichosis 4
Pili torti, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Alopecia, Sparse hair OMIM:146550
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Brittle hair, Cutaneous syndactyly, Absent eyelashes, Congenital onycho... ORPHA:2890
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:601859
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-dsDNA antibody positivity, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Gl... OMIM:619375
Ataxia-Photosensitivity-Short Stature Syndrome
Clinodactyly of the 5th finger, Short stature, Cubitus valgus, Bilateral single transverse palmar... ORPHA:1184
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... OMIM:603965
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Leukopenia, Hepatosplenomegaly,... OMIM:618986
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Increased circulating antibody level, ... ORPHA:100024
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Hepatosplenomegaly, Increased proportion of memory T cells, Lymp... OMIM:618982
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Anti-La/SS-B antibody positivity... ORPHA:90283
Congenital Heart Defects And Ectodermal Dysplasia
Fragile nails, Sparse scalp hair, Broad thumb, Dry skin, Syndactyly OMIM:617364
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Toe syndactyly, Small thenar eminence, Small hypoth... OMIM:185750
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of t... ORPHA:1891
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Leukemia, Impaired lymphocy... OMIM:153600
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Systemic lupus erythematosus, Renal... OMIM:613779
Acrokeratosis Verruciformis
Hyperkeratosis, Epidermal acanthosis, Acrokeratosis, Ridged nail OMIM:101900
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Focal ... OMIM:614131
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Bazex Syndrome
Palmoplantar keratoderma, Parakeratosis, Nail dystrophy, Hyperkeratosis, Anemia, Scaling skin, Ac... ORPHA:166113
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:612692
Erythrokeratodermia Variabilis
Brachydactyly, Generalized hirsutism, Abnormality of the nail, Abnormal hair morphology, Erythema... ORPHA:317
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Absent natural killer cells, Abnormality of B cell physiology, Impaired lympho... OMIM:600802
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Odonto-Onycho Dysplasia-Alopecia Syndrome
Palmoplantar keratoderma, Hypoplastic toenails, Sparse eyebrow, Sparse body hair, Alopecia, Spars... ORPHA:2722
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis, Palmoplantar hyperhidrosis, Orthokeratotic hyperkeratosis, Hypergranulosis OMIM:615598
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Ly... OMIM:603554
Cole Disease
Hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Hypergranulosis OMIM:615522
Liebenberg Syndrome
Brachydactyly, Radially deviated wrists, Joint contracture of the 5th finger, Metaphyseal widenin... OMIM:186550
Aicardi-Goutieres Syndrome 5
Deep white matter hypodensities, Basal ganglia calcification, CSF lymphocytic pleiocytosis, Micro... OMIM:612952
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Acrocephalopolysyndactyly Type Iv
Clinodactyly, Joint contracture of the hand, Hand polydactyly, Ulnar deviation of the hand or of ... OMIM:201020
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Amegakaryocytic thrombocytopenia, Clinodactyly of the 5th finger, Radioulnar s... ORPHA:71289
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair, Growth delay OMIM:246500
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hematuria, Protei... OMIM:613237
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Recurrent urinary tract in... OMIM:618495
Anonychia With Flexural Pigmentation
Anonychia, Dry skin OMIM:106750
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Leukocytosis, Monocytosis, Redu... OMIM:619281
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Agammaglobulinemia OMIM:615214
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria OMIM:607832
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Renal insufficiency, Focal segme... OMIM:256370
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis, Orthokeratosis, Hyperkeratosis, Hypergranulosis, Congenital nonbullous icht... OMIM:615023
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Nail dysplasia, Sparse eyebrow, Fine hair, Slow-growing hair, Sparse eyelashes, Sparse hair, Dry ... OMIM:129490
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis, Clubbing, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Pa... ORPHA:2199
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Pallor, Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Growth delay, Anemia, Sho... OMIM:615631
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Abnormal toenail morphology, Fine hair, Alopecia, Abnormal fingernail m... ORPHA:248
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Lymphadenitis, Autoimmune thrombocytopenia, Autoimmune hemolyti... ORPHA:911
Pityriasis Rubra Pilaris
Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Hypergranulosis, Subungual hyperkeratosis OMIM:173200
Ectodermal Dysplasia/Skin Fragility Syndrome
Palmoplantar hyperkeratosis, Scaling skin, Sparse hair, Dystrophic fingernails OMIM:604536
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Alopecia universalis, Absent axill... OMIM:615059
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific antibody response to protein-conjugate... ORPHA:70593
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Periorbital wrinkles, Partial duplication of eyebrows, 2-3 toe syndactyly, Long eyelashes, 2-4 fi... OMIM:227210
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Abnormality of the nail, Erythema, Splenomegaly, Hepatomegaly, Ly... ORPHA:2584
Ichthyosis, Congenital, Autosomal Recessive 14
Hyperkeratosis, Erythema, Scaling skin, Orthokeratotic hyperkeratosis OMIM:617571
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Nephronophthisis 4
Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Anemia, Renal tubular atrophy, Renal cor... OMIM:606966
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephropathy, Renal insufficiency, Thrombocytopen... OMIM:254900
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Postaxial hand polydactyly, Megalencephaly, Hydrocephalus, Polymicrogyria OMIM:615938
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Coxa valga, Coronal craniosynostosis, Mild intrauterine growth retardation, Slow-gr... OMIM:616943
Dermoodontodysplasia
Trichodysplasia, Nail dysplasia, Dry skin OMIM:125640
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Aplasia of the thymus, Reduced delayed hypersensitivity, Lymphopenia, Abnorma... OMIM:242700
Systemic Lupus Erythematosus 16
Nephritis, Systemic lupus erythematosus OMIM:614420
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Hematuria, Steroid-resistant nephrotic syndrome, Stage 5 chronic kid... OMIM:616892
Nephrotic Syndrome, Type 9
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:615573
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating total IgG, Decreased proportion of CD4-pos... OMIM:618969
Focal Segmental Glomerulosclerosis 1
Anemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:603278
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, B lymphocytopenia, Perianal abscess, Par... OMIM:618108
Witkop Syndrome
Small nail, Fine hair, Nail pits, Sparse hair, Concave nail, Ridged nail OMIM:189500
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Finger syndactyly, Severe short stature, Triphalangeal thumb, Short thu... ORPHA:2251
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Bone marrow hypocellularity, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Ab... ORPHA:86841
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Increased circulating IgG level, Complete or near-complete absen... OMIM:610163
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Reduced natural killer cell activity, Hemophagocytosis, Anemia OMIM:608898
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Abnormal skin morphology of the palm, Anonychia, Hyperkeratosis, Follic... ORPHA:69125
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Short palm, Short stature, Short toe, Postnatal growth retardation, Dry skin OMIM:612947
Ovarian Dysgenesis 2
Primary amenorrhea, Gonadal hypoplasia, Abnormality of the uterus, Secondary amenorrhea, Hirsutis... OMIM:300510
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Complement Component C1R/C1S Deficiency
Autoimmunity, Nephritis OMIM:216950
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Periportal fibrosis, Pancreatic cysts, Splenome... OMIM:263200
Holoprosencephaly 5
Semilobar holoprosencephaly, Hydrocephalus, Central diabetes insipidus, Holoprosencephaly, Lobar ... OMIM:609637
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis, Palmoplantar keratoderma OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis, Palmoplantar keratoderma OMIM:615735
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Autoimmunity, Splenomegaly, Hemolytic anemia ORPHA:228312
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Rheumatoid factor positive, Splenomegaly, Hepatomegaly, Recurrent tonsillitis,... OMIM:618852
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Hemimegalencephaly, Postaxial hand polydactyly, Hypoplasia of th... OMIM:615937
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Palmoplantar keratoderma, Orthokeratosis, Acantholysis, Hypergranulosis, Sparse hair OMIM:615508
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Hepatomegaly, Splenomegaly, Lymphopenia OMIM:605309
Syndactyly Type 5
3-4 finger syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Short distal phalanx o... ORPHA:93406
Reticular Dysgenesis
Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Aplasia/Hyp... ORPHA:33355
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia ORPHA:318
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Nephrotic Syndrome, Type 2
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:600995
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Short palm, Bifid distal phalanx of the thumb, Broad palm, Bifid distal phalanx of toe, Sparse ey... OMIM:618419
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Dec... ORPHA:331206
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Widow's peak, Intrauterine growth retardation, Thick eyebrow, Short stature, Preaxial hand polyda... OMIM:606242
X-Linked Dominant Chondrodysplasia Punctata
Neonatal epiphyseal stippling, Anterior rib punctate calcifications, Abnormality of the nail, Pat... ORPHA:35173
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Thick eyebrow, Radioulnar synostosis, Short st... ORPHA:3268
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:603909
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Orthokeratosis, Hypergranulosis, Parakeratosis OMIM:604117
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Parana Hard Skin Syndrome
Hyperkeratosis, Tapered finger, Generalized hirsutism, Thickened skin ORPHA:2812
Huriez Syndrome
Small nail, Abnormality of the nail, Palmoplantar keratoderma, Lack of skin elasticity, Dry skin ORPHA:384
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Epidermal acanthosis, Palmoplantar keratoderma, Onycholysis, Hyperkeratosis, Scaling skin, Leukon... OMIM:616295
Ataxia-Telangiectasia
Decreased circulating IgG level, T lymphocytopenia, Female hypogonadism, Leukemia, Defective B ce... OMIM:208900
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin, Cutis laxa OMIM:105250
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... OMIM:600785
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Neutropenia, Anemia, Nephropathy, Focal segmental glomerulosc... OMIM:617056
Hypotrichosis 7
Sparse hair, Sparse eyebrow, Woolly hair, Sparse eyelashes OMIM:604379
Isochromosomy Yq
Varicocele, Azoospermia, Decreased testicular size, Male infertility, Ambiguous genitalia, Gonada... ORPHA:98798
Wahab Syndrome
Clinodactyly, Short palm, Short metacarpal, Short thumb, Adducted thumb, Camptodactyly, Short foo... OMIM:615170
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, Sagittal craniosynostosis, Distal symphalangism of hand... OMIM:185900
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614650
Osteopenia And Sparse Hair
Sparse hair, Osteopenia OMIM:259690
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Anonychia, Metatarsus adductus, Polydactyly, S... OMIM:613005
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Hypotrichosis 13
Sparse hair, Sparse eyebrow, Woolly hair OMIM:615896
Thyrotropin-Releasing Hormone Deficiency
Short stature, Dry skin OMIM:275120
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Metacarpal synostosis, Syndactyly OMIM:263450
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Hypotrichosis 9
Sparse body hair, Sparse scalp hair OMIM:614237
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Alopecia, Sparse pubic hair, Sparse axillary hair, Sparse scalp hair ORPHA:505
Heyn-Sproul-Jackson Syndrome
Intrauterine growth retardation, Severe short stature, Short metacarpal, Short phalanx of finger,... OMIM:618724
Epidermolytic Hyperkeratosis
Epidermal acanthosis, Palmoplantar hyperkeratosis, Scaling skin OMIM:113800
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin OMIM:617920
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level, Autoimmune thrombocytopenia, Au... OMIM:619220
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Postaxial foot polydactyly, Hy... ORPHA:1113
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:613502
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Dermoodontodysplasia
Sparse body hair, Toenail dysplasia, Trichodysplasia, Fingernail dysplasia, Sparse scalp hair, Dr... ORPHA:1660
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Agammaglobulinemia OMIM:613501
Verrucous Hemangioma
Epidermal acanthosis, Hyperkeratotic papule ORPHA:464318
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin ORPHA:2271
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Hematuria, Proteinuria, Renal tubular atrophy, Focal segmental glomeruloscler... OMIM:618349
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Foc... OMIM:610725
Premature Ovarian Failure 7
Hypoplasia of the uterus, Absent pubic hair, Primary amenorrhea, Elevated circulating luteinizing... OMIM:612964
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Glutamate Formiminotransferase Deficiency
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia OMIM:229100
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephro... OMIM:602114
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Aplasia/Hypoplasia of the eyebrow, Sp... ORPHA:39041
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the vertebral column, Azoospermia, Abnormal rib morphology, Sprengel anomaly, Bico... OMIM:601076
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Hypotrichosis 10
Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:614238
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb, Short stature, T... OMIM:613681
Immunodeficiency 7
Autoimmunity, Hypereosinophilia, Lymphadenopathy OMIM:615387
Centrifugal Lipodystrophy
Erythema, Lymphadenitis, Scaling skin, Alopecia ORPHA:90156
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Severe short stature, Irregular femoral epiphysis, Upper-limb metaphyseal irregularit... OMIM:618728
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Infertility, Primary amenorrhea, Cryptorchidism, Micropenis, Spars... OMIM:146110
Acral Peeling Skin Syndrome
Erythema, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis, Hydroceph... ORPHA:1008
Ichthyosis-Hypotrichosis Syndrome
Sparse hair, Ichthyosis ORPHA:91132
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Neutropenia... OMIM:619705
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse eyelashes, Sparse body hair, Dry skin, Slow-growing hair OMIM:618535
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Rhizomelia, Anemia, Short stature, Thrombocytopenia, Dry... OMIM:618116
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Glomerular sclerosis, Nephrotic syndrome, Thickened glomerular ... OMIM:619155
Psoriasis 2
Epidermal acanthosis, Parakeratosis, Hyperkeratosis, Scaling skin, Psoriasiform dermatitis OMIM:602723
Syndactyly Type 3
Camptodactyly of finger, Finger syndactyly, Short toe ORPHA:93404
Immunodeficiency 36
Decreased circulating antibody level, Chronic lymphatic leukemia, Splenomegaly, Lymphopenia OMIM:616005
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Hemophagocyt... OMIM:308240
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Short femoral neck, Flared iliac wing, Rhizomelia, Flared humeral metaphysis, Flared ... OMIM:183849
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Agammaglobulinemia, Thrombocytosis, Interface hepatitis, Autoimmune hemolytic anemi... OMIM:243150
Grubben-De Cock-Borghgraef Syndrome
Small hand, Dry skin, Deviation of finger ORPHA:2101
Alport Syndrome
Nephrotic syndrome, IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Prot... ORPHA:63
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Hepatospleno... ORPHA:35078
Brachydactyly Type A7
Short 2nd finger, Ulnar deviation of the 2nd finger, Absent middle phalanx of 2nd finger, Triangu... ORPHA:93397
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Sclerosing cholangitis, Decreased c... OMIM:308230
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Microc... OMIM:619151
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Dry skin, Severe short stature, Reduced bone mineral density, Alopecia... ORPHA:2617
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism ORPHA:2297
Glycogen Storage Disease Iv
Portal hypertension, Hepatosplenomegaly, Tubulointerstitial fibrosis, Ascites, Cirrhosis OMIM:232500
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Dystrophic toenail, Thin toenail, Alopecia OMIM:614928
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Hyperkeratosis, Hypoplastic sweat glands, Orthokeratosis, Nail dystrophy OMIM:617337
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis OMIM:617115
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Ectrodactyly, Aplasia/Hyp... OMIM:605289
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, T lymphocytopenia, Autoimmune thrombocytopenia, Systemic lupus erythematosus, Tubul... OMIM:607944
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:617574
Müllerian Aplasia And Hyperandrogenism
Short neck, Primary amenorrhea, Abnormality of the ovary, Abnormal vagina morphology, Thick eyebr... ORPHA:247768
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Abnormality of the nail, Palmoplantar keratoderma, Sparse eyebrow, Absent hair, Facial erythema, ... ORPHA:1010
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Reduced natural killer cell activity,... OMIM:615559
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Familial Melanoma
Abnormal hair morphology, Abnormality of the lymphatic system, Dry skin, Neoplasm of the pancreas ORPHA:618
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Cutaneous abscess, Decreased pr... OMIM:618944
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Palmoplantar hyperkeratosis, Erythema, Hyperkeratosis, Congenital nonbullou... OMIM:617526
Brachydactyly, Type A2
Short 2nd finger, Ulnar deviation of the 2nd finger, 2-3 toe syndactyly, Medially deviated second... OMIM:112600
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Palmoplantar keratoderma, Erythema, Hyperkeratosis, Hypergranulosis OMIM:617525
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Feingold Syndrome 2
2-3 toe syndactyly, 3-4 toe syndactyly, Short thumb, Short middle phalanx of the 2nd finger, Shor... OMIM:614326
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Micropenis, Sparse body hair, Hypoplasia of penis, Short stature, Hypogonadism ORPHA:85274
Filippi Syndrome
Single transverse palmar crease, Intrauterine growth retardation, Hypertrichosis, Cutaneous synda... OMIM:272440
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Craniofacial Conodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus ORPHA:85168
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Cryptorchidism, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Lymphop... OMIM:612541
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Asthma, Erythema, Growth delay, Hyperkeratosis, Scaling skin, Dry skin OMIM:614457
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis, Asthma, Anonychia, Nail dystrophy, Hyperkeratosis, Short stature OMIM:616029
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hypothyroidism, Hepatosplenomegaly, Type I diabetes mellitus, Decreased propor... OMIM:606367
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Diffuse palmoplantar hyperkeratosis, Dystrophic toenail, Sparse body hair, Onychogryposis of toen... OMIM:617294
Sclerosteosis
Finger syndactyly, Increased bone mineral density, Craniofacial hyperostosis, Diaphyseal thickeni... ORPHA:3152
Prolidase Deficiency
Generalized hirsutism, Abnormal hip bone morphology, Palmoplantar keratoderma, Bilateral single t... ORPHA:742
Punctate Palmoplantar Keratoderma Type 1
Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, Abnormal epidermal morphology, Pa... ORPHA:79501
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Leukopenia, Autoimmune hemolytic anemia, Autoimmun... OMIM:613011
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Decreased circulating IgG level, Hepatosplenomegaly, Decreased proportion of CD3-po... ORPHA:169160
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Reduced isohemagglutini... OMIM:613493
Adult Syndrome
Toe syndactyly, Abnormality of the nail, Finger syndactyly, Dry skin, Absent nipple, Sparse scalp... ORPHA:978
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus OMIM:613783
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Thrombocytopenia, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Ectodermal Dysplasia 9, Hair/Nail Type
Atrichia, Absent eyelashes, Nail dysplasia, Absent hair, Nail dystrophy, Sparse hair, Concave nail OMIM:614931
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Micromelia, Short stature, Genu valgum, Dry skin ORPHA:1035
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Decreased circulating total IgM, Reduced red cell adenosine deaminase level, Autoim... OMIM:102700
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:614455
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Sparse hair, Split hand, Split foot OMIM:129810
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Martsolf Syndrome 2
Microcephaly, Hypoplasia of the corpus callosum, Camptodactyly, Camptodactyly of finger, Dilation... OMIM:619420
Cranioectodermal Dysplasia 3
Brachydactyly, Sandal gap, Broad nail, Fine hair, Cutis laxa, Sparse hair, Short stature, Postaxi... OMIM:614099
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Autoimmune thrombocytopenia, Au... OMIM:616100
Dowling-Degos Disease 4
Epidermal acanthosis, Hypergranulosis OMIM:615696
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Incre... OMIM:202700
Acquired Partial Lipodystrophy
Autoimmunity, Hepatic steatosis, Proteinuria, Glomerulopathy, Microscopic hematuria, Lymphocytosis ORPHA:79087
Hypothyroidism, Congenital, Nongoitrous, 6
Anemia, Growth delay, Dry skin, Congenital hip dislocation OMIM:614450
19Q13.11 Microdeletion Syndrome
Toe syndactyly, Toe clinodactyly, Intrauterine growth retardation, Finger syndactyly, Sparse late... ORPHA:217346
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Adrenal hyperplasia, Micropenis, Absent scrotum, Male pseudohermaphroditism, ... OMIM:201810
Alopecia Areata 1
Autoimmunity OMIM:104000
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Partial absence o... OMIM:240500
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Leukocytosis, Cholangitis, Thrombocytosi... OMIM:619652
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Immunodeficiency 20
Reduced natural killer cell activity, Reduced natural killer cell count OMIM:615707
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Decreased circulating antibody level, Anemia,... OMIM:613101
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the lymph nodes, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Decreased gl... ORPHA:85450
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Short stature, Cutaneous finger syndactyly, Duplication of metatarsal ... OMIM:600384
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Sparse eyebrow, Syndactyly, Sparse eyelashes, Sparse scalp hair, Camptodactyly, Split hand, Joint... OMIM:225280
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cryptorchidism, Absent eyelashes, Nail dysplasia, Absent eyebrow, Nail dystrophy, Short stature, ... OMIM:308205
Satoyoshi Syndrome
Amenorrhea, Abnormality of the ovary, Abnormal hair morphology, Hyperlordosis, Abnormality of the... ORPHA:3130
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, ... OMIM:608184
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, T lymphocytopenia, Sclerosing cholangitis, Abnormal CD4:CD8 ratio, Lack of T cell f... ORPHA:572
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Macrocy... OMIM:617780
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Synostosis of carpal bones, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Fi... ORPHA:157801
Glutamine Deficiency, Congenital
Decreased CSF glutamine concentration, Erythema, Micromelia, Camptodactyly, Hypoplasia of the cor... OMIM:610015
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Short stature, Finger syndactyly ORPHA:238446
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Adult Idiopathic Neutropenia
Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly, Finger syndactyly ORPHA:2935
Epidermolysis Bullosa, Lethal Acantholytic
Mitten deformity, Widely spaced toes, Tapered distal phalanges of finger, Absent fingernail, Sand... OMIM:609638
Rothmund-Thomson Syndrome, Type 1
Absent eyelashes, Thin nail, Hyperkeratosis, Absent eyebrow, Nail dystrophy, Short stature, Male ... OMIM:618625
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Hypotrichosis And Recurrent Skin Vesicles
Epidermal acanthosis, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, S... OMIM:613102
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Ectrodactyly, Foot oligodacty... OMIM:183600
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis, Palmoplantar blistering OMIM:131800
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Lack of skin elasticity ORPHA:281127
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy, Increa... ORPHA:482
Ectrodactyly-Polydactyly Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... ORPHA:1892
Weaver Syndrome
Clinodactyly, Flared humeral metaphysis, Radial deviation of finger, Flared femoral metaphysis, F... OMIM:277590
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each finger onto ... OMIM:148700
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Intellectual Developmental Disorder, X-Linked 103
Short palm, Dilation of lateral ventricles, Polymicrogyria OMIM:300982
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Ichthyosis Hystrix Of Curth-Macklin
Ichthyosis, Diffuse palmoplantar hyperkeratosis, Nail dystrophy, Hyperkeratosis, Autoamputation o... ORPHA:79503
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Refractory anemia OMIM:616871
Idiopathic Localized Lipodystrophy
Erythema, Scleroderma, Morphea, Scaling skin ORPHA:90158
Riddle Syndrome
Short stature, Dry skin OMIM:611943
Familial Reactive Perforating Collagenosis
Abnormal epidermal morphology, Hyperkeratotic papule ORPHA:79147
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis OMIM:618084
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Estrogen Resistance
Hypoplasia of the uterus, Acanthosis nigricans, Primary amenorrhea OMIM:615363
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebral cortical atrophy, Subcortical cerebral atrophy, Cerebral cortical hemiatrophy, Hydroceph... ORPHA:2703
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
2-3 toe syndactyly, Broad hallux, Nail dystrophy, Low posterior hairline, Synophrys, Abnormal hai... OMIM:300860
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Histiocytosis, Absent natural killer cells, Increa... ORPHA:2442
Brachydactyly Type B
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:93383
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Premature graying of hair, Leukopenia, Bone marrow hypocellularity, Intrauterine gr... OMIM:613990
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Woolly hair, Agenesis of corpus callosum, Dilated third ventricle, Leukoencepha... OMIM:619244
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar keratoderma, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Nail dysplasia,... OMIM:104100
Barth Syndrome
Abnormality of neutrophils ORPHA:111
Eosinophilopenia
Autoimmunity, Decreased eosinophil count OMIM:131430
Jessner Lymphocytic Infiltration Of The Skin
Abnormal lymphocyte morphology ORPHA:33314
Sézary Syndrome
Abnormal lymphocyte morphology, Palmoplantar keratoderma, Splenomegaly, Hepatomegaly, Nail dystro... ORPHA:3162
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Perrault Syndrome 6
Hypoplasia of the uterus, Irregular menstruation, Primary amenorrhea, Secondary amenorrhea, Prema... OMIM:617565
Basan Syndrome
Epidermal acanthosis, Palmoplantar keratoderma, Single transverse palmar crease, Tapered finger, ... OMIM:129200
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Dilation of lateral ventricles, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Nephrotic syndrome, Glomerular sclerosis, Proteinuria OMIM:617731
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Acute kidney injury, Proteinuria, Decreased glomerular filtration rate, Glo... ORPHA:93126
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Stillbirth, Syndactyly ORPHA:294975
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Systemic Lupus Erythematosus
Leukopenia, Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Hemoly... OMIM:152700
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Long eyelashes, Cryptorchidism, Hypoplastic labia minora, Sparse eyebrow, Absent scrotum, Broad e... ORPHA:495875
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Moynahan Syndrome
Hyperkeratosis, Short stature, Alopecia, Sparse hair, Hypogonadism ORPHA:2574
Bone Marrow Failure Syndrome 6
Hypothyroidism, Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volu... OMIM:618849
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma OMIM:244850
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, R... OMIM:616730
Fanconi Renotubular Syndrome 5
Glycosuria, Proteinuria, Tubulointerstitial fibrosis, Aminoaciduria, Stage 5 chronic kidney disease OMIM:618913
Angioma Serpiginosum, X-Linked
Hyperkeratosis, Sparse hair, Fine hair, Nail dystrophy OMIM:300652
Seckel Syndrome 7
Microcephaly, Primary amenorrhea, Hypoplasia of the uterus, Lumbar scoliosis OMIM:614851
Skin Fragility-Woolly Hair Syndrome
Woolly hair, Palmoplantar hyperkeratosis, Nail dysplasia, Acantholysis, Sparse eyebrow, Nail dyst... OMIM:607655
Perrault Syndrome 3
Microcephaly, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypoplasia of the uterus OMIM:614129
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Peritonitis, Chronic kidney disease, Foamy urine, Stage... ORPHA:656
Progeroid Syndrome, Petty Type
Generalized hirsutism, Abnormality of the nail, Brittle hair, Intrauterine growth retardation, Lo... ORPHA:2963
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Abnormality of the ovary, Decreased propor... ORPHA:543
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Syndactyly, Type V
Brachydactyly, 4-5 toe syndactyly, Carpal synostosis, Absent distal interphalangeal creases, 4-5 ... OMIM:186300
Brachydactyly Type B2
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:140908
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Single transverse palmar crease, Agenesis of... ORPHA:79243
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased circulating total IgM, Decreased proportion of ... OMIM:618394
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Abnormality of the nail, Abnormal hair morphology, Sparse pubic hair, Absent eyebrow, Onychogrypo... ORPHA:1808
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Sparse scalp hair, Curly hair, Sparse hair OMIM:616760
Acquired Ichthyosis
Palmoplantar keratoderma, Erythema, Dry skin ORPHA:454
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Microcephaly, Cortical dysplasia, Hydrocep... OMIM:618709