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Gene: Itgb2 MGI:96611

Gene Summary

Name:

integrin beta 2

Synonyms:

Cd18, Mac-1 beta, 2E6

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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
decreased prepulse inhibition		Itgb2^em1(IMPC)Bay	HOM		Early adult	3.99×10^-05

Download data as: TSV XLS

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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.

Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of right fundus

16 Images

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Eye Morphology

VIP of left eye

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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Human diseases caused by Itgb2 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.

Human diseases associated with Itgb2 (1 diseases)
Human diseases predicted to be associated with Itgb2 (2121 diseases)

The table below shows human diseases associated to Itgb2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Leukocyte Adhesion Deficiency, Type I		Recurrent gram-negative bacterial infections, Osteomyelitis, Elevated circulating C-reactive prot...	OMIM:116920

The table below shows human diseases predicted to be associated to Itgb2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythem...	ORPHA:346
Erosive Pustular Dermatosis Of The Scalp	Pustule, Scarring alopecia of scalp, Erythema, Abnormal hair morphology	ORPHA:222
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Perifolliculitis, Alopecia of scalp	OMIM:260910
Erythema Nodosum, Familial	Erythema nodosum, Erythema	OMIM:132990
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Peeling Skin Syndrome 3	Pruritus, Erythema, Abnormal hair morphology, White scaling skin	OMIM:616265
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Chilblain Lupus 2	Cutaneous photosensitivity, Chilblains	OMIM:614415
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis	OMIM:602723
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome	Psoriasiform dermatitis, Ichthyosis	ORPHA:3052
Immunodeficiency 50	Lymphopenia, Neutropenia, Decreased circulating antibody level	OMIM:300988
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613737
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Kerion Celsi	Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ...	ORPHA:499
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg...	OMIM:619220
Peeling Skin Syndrome 6	Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis	OMIM:618084
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp...	ORPHA:169154
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair	ORPHA:505
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Nail pits, Arthritis, Onycholysis, Onychomadesis	OMIM:177900
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Mycosis Fungoides	Pruritus, Erythema, Psoriasiform dermatitis, Eczema	OMIM:254400
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr...	OMIM:604777
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Cutaneous Collagenous Vasculopathy	Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis...	ORPHA:280779
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma	OMIM:133200
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Linear Atrophoderma Of Moulin	Pruritus, Scleroderma, Inflammatory abnormality of the skin	ORPHA:140933
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmune thromb...	OMIM:614470
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta...	OMIM:607594
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of...	OMIM:212050
Psoriasis 15, Pustular, Susceptibility To	Psoriasiform dermatitis, Nail dystrophy	OMIM:616106
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Immunodeficiency 15B	Death in infancy, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurren...	OMIM:615592
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Sparse hair, Pili torti	OMIM:607903
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Hair-nail ectodermal dysplasia, Thin toenail, Sparse hair, Dystrophic toenail	OMIM:614928
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu...	OMIM:612281
Ichthyosis, Congenital, Autosomal Recessive 7	Ichthyosis, Palmoplantar keratoderma, Hypergranulosis, Erythroderma	OMIM:615022
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Elevated circulating C...	OMIM:614204
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ...	OMIM:615023
Porokeratosis Plantaris Palmaris Et Disseminata	Pruritus, Hyperkeratotic papule, Palmoplantar hyperkeratosis, Porokeratosis	ORPHA:737
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Mental Retardation And Psoriasis	Psoriasiform dermatitis	OMIM:309480
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Bullous Pemphigoid	Urticaria, Erythema, Psoriasiform dermatitis, Eczema	ORPHA:703
Vibratory Urticaria	Urticaria, Facial erythema, Flushing	OMIM:125630
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Increased circulating IgG level, Inflammation of the large intestine, Ect...	ORPHA:98813
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema	ORPHA:90160
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ...	OMIM:619281
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia	OMIM:269840
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia...	OMIM:240500
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker...	ORPHA:2897
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Jessner Lymphocytic Infiltration Of The Skin	Pruritus, Cutaneous photosensitivity, Erythema	ORPHA:33314
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Sting-Associated Vasculopathy, Infantile-Onset	Myositis, Elevated circulating C-reactive protein concentration, Leukopenia, Increased circulatin...	OMIM:615934
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atroph...	ORPHA:542592
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype...	OMIM:300918
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections, Abnormal hair morphology	ORPHA:345
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis	ORPHA:79503
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo...	OMIM:308240
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo...	OMIM:308230
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho...	OMIM:603909
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta...	ORPHA:330058
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis	OMIM:613943
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Classic Mycosis Fungoides	Hepatomegaly, Alopecia, Skin rash, Eczema, Pruritus, Splenomegaly, Erythema, Skin ulcer, Lymphade...	ORPHA:2584
Schnitzler Syndrome	Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Lymphadenopathy, Urticaria, Arthri...	ORPHA:37748
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,...	OMIM:300400
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Candidiasis, Familial, 1	Alopecia, Chronic mucocutaneous candidiasis	OMIM:114580
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy...	OMIM:613953
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Erythema, Skin ulcer	ORPHA:2337
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Erythema, Septic arthritis	ORPHA:36237
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Netherton Syndrome	Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Allergic rhinitis, Ecz...	OMIM:256500
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Epidermal acanthosis, Allergic rhi...	ORPHA:90368
Dysplasia Of Head Of Femur, Meyer Type	Multicentric femoral head ossification, Congenital hip dislocation, Leukocytosis, Delayed femoral...	ORPHA:168621
Immunodeficiency 25	Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Rec...	OMIM:610163
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Hypertrichosis	OMIM:617524
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity, T lymp...	ORPHA:277
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula...	ORPHA:2688
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Lymphopenia, Recurrent herpes, Pneumonia, Eosinophilia, Recurrent pneum...	ORPHA:169160
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection...	OMIM:202700
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymph...	OMIM:209950
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule	ORPHA:464318
Immunodeficiency 46	Chronic oral candidiasis, Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Seps...	OMIM:616740
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Elevated circulating C...	OMIM:618048
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosi...	ORPHA:79395
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	T lymphocytopenia, Scaling skin, Alopecia universalis, Hemolytic anemia, Psoriasiform dermatitis,...	OMIM:606367
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec...	ORPHA:276
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Abnormal n...	ORPHA:3392
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, ...	ORPHA:397596
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased...	OMIM:615767
Immunodeficiency 95	Recurrent respiratory infections, Decreased circulating IgG3 level, Recurrent viral upper respira...	OMIM:619773
Acne Inversa, Familial, 1	Acne inversa	OMIM:142690
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent sinopulmonary infections, Recurrent fractures, Craniosynostosis, Eosinophil...	OMIM:147060
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis	OMIM:619549
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti...	OMIM:611926
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i...	ORPHA:90159
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lack of faci...	ORPHA:90156
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc...	OMIM:602450
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Cutaneous Small Vessel Vasculitis	Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Purpura	ORPHA:889
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A...	OMIM:615508
Ichthyosis, Annular Epidermolytic, 2	Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:620148
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Cutaneous Photosensitivity And Colitis, Lethal	Early cutaneous photosensitivity, Erythema, Colitis	OMIM:219095
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia,...	OMIM:226990
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Ulerythema Ophryogenesis	Acne, Facial erythema, Dry skin, Contact dermatitis, Sparse lateral eyebrow	ORPHA:3406
Griscelli Syndrome, Type 2	Silver-gray hair, Hepatosplenomegaly, Recurrent bacterial infections, Hemophagocytosis, Death in ...	OMIM:607624
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, Arthritis, T lympho...	OMIM:601457
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital bullous ichthyosiform ery...	OMIM:607602
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Alopecia, Nail dystrophy	OMIM:616487
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratod...	ORPHA:312
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ...	OMIM:242300
Peeling Skin Syndrome 4	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:607936
Avascular Necrosis Of Femoral Head, Primary, 1	Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis	OMIM:608805
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin conce...	OMIM:603552
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Erythrokeratodermia Variabilis Et Progressiva 3	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis	OMIM:617525
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, Increased circulating IgG...	ORPHA:443811
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke...	OMIM:619208
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis	OMIM:101900
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l...	OMIM:618987
Immunodeficiency 20	Reduced natural killer cell count, Reduced natural killer cell activity	OMIM:615707
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Sézary Syndrome	Hepatomegaly, Alopecia, Abnormal immunoglobulin level, Pruritus, Splenomegaly, Dry skin, Lymphade...	ORPHA:3162
Dermatitis, Atopic	Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Facial erythem...	OMIM:603165
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis, Orthokeratosi...	ORPHA:38
Epidermolytic Hyperkeratosis 1	Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Erythroderma	OMIM:113800
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Proliferating Trichilemmal Cyst	Epidermoid cyst, Skin ulcer	ORPHA:492
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Parakeratosis, Alopecia, Epidermal acanthosis, Sparse eyelashes, Thick hair, Portal...	OMIM:607626
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis...	OMIM:618963
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator...	OMIM:616005
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on bre...	ORPHA:64745
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, He...	OMIM:616100
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurrent respirat...	OMIM:618495
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi...	OMIM:300853
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Thickened skin, Urticaria, Arthritis, Lymphopenia	ORPHA:2582
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno...	ORPHA:129
Whim Syndrome 1	Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level	OMIM:193670
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Abnormality...	ORPHA:47
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Death in infancy, Persistent CMV viremia, Autoimmun...	OMIM:617514
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Urticaria, Erythroderma	ORPHA:280785
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes...	OMIM:614700
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ...	OMIM:618459
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu...	OMIM:301082
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Bazex Syndrome	Parakeratosis, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Na...	ORPHA:166113
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi...	OMIM:243700
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema	OMIM:617443
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor...	ORPHA:294023
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Pruritus, Abnormality of the spleen, Thickened skin, Lymphadenopathy, Darier's sign...	ORPHA:79456
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eosinophilia, Craniosynostosis, Increased circulating IgE level...	OMIM:618523
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Recurrent sinopulmonary infections, Acute myeloid leukemia, Aplastic anemia, Eosinoph...	ORPHA:486
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Cobblestone-li...	OMIM:602540
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Hair-nail ectodermal dysplasia, Absent eyelashes, Onychol...	OMIM:602032
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Increased cir...	OMIM:618282
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc...	ORPHA:555905
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc...	OMIM:604416
Omenn Syndrome	Hepatomegaly, Alopecia, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, Thickened ...	ORPHA:39041
Pemphigus Foliaceus	Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythema, Scaling s...	ORPHA:79481
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Angioma Serpiginosum	Erythema, Vascular skin abnormality	ORPHA:95429
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ...	OMIM:613101
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Psoriasiform dermatitis, Blepharitis, Ichthyosis	OMIM:616834
Peeling Skin Syndrome 1	Brittle hair, Eosinophilia, Pruritus, Increased circulating IgE level, Onycholysis, Scaling skin,...	OMIM:270300
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform eryt...	OMIM:617571
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:617099
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Pallor, Decreased proportion of...	ORPHA:331206
Neonatal Lupus Erythematosus	Hemolytic anemia, Parakeratosis, Pancytopenia, Skin rash, Maculopapular exanthema, Aplastic anemi...	ORPHA:398124
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytosis, Abnormal f...	ORPHA:75564
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Acantholysis, Pruritus,...	ORPHA:293173
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Erythema, Atopic dermatitis, Palmoplantar scaling skin, Scaling skin, Dry skin	ORPHA:530838
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Erythema, Rheumatoid arthritis	ORPHA:79099
Cernunnos-Xlf Deficiency	Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym...	ORPHA:169079
Bathing Suit Ichthyosis	Parakeratosis, Alopecia, Epidermal acanthosis, Thickened skin, Palmoplantar hyperkeratosis, Ichth...	ORPHA:100976
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin...	ORPHA:33110
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Death in infancy, Neutrophilia, Membranoproliferative glomerulonephritis, Maculopap...	OMIM:619644
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er...	ORPHA:87503
Eosinophilia, Familial	Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Anemia	OMIM:131400
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc...	ORPHA:90158
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia	OMIM:617638
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med...	ORPHA:572
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ...	OMIM:300755
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia...	OMIM:618986
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Decreased lymphocyte proliferati...	OMIM:620282
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,...	OMIM:619752
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu...	OMIM:616871
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega...	OMIM:260920
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Ulcerative colitis, Anemia	OMIM:619398
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Paronychia, Perioral erythema, Erythroderma, Blepharitis, Onychogryposis	OMIM:614328
Indolent Systemic Mastocytosis	Hepatomegaly, Skin rash, Maculopapular exanthema, Pruritus, Splenomegaly, Lymphadenopathy, Darier...	ORPHA:98848
Orthostatic Hypotensive Disorder, Streeten Type	Bruising susceptibility, Facial erythema	OMIM:143850
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa	OMIM:617337
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Recurrent respiratory infections, Eczema, Oligoarthritis, Persistent EBV viremia, T ...	OMIM:619510
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula...	OMIM:617765
Rosaï-Dorfman Disease	Erythema, Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Pruritus, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis	ORPHA:157991
Immunodeficiency 67	Transient neutropenia, Increased circulating IgE level, Liver abscess	OMIM:607676
Boutonneuse Fever	Skin rash, Maculopapular exanthema, Petechiae, Cervical lymphadenopathy, Lymphadenopathy, Leukope...	ORPHA:83313
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized lymphadenopathy, Elevated circul...	ORPHA:829
Immunodeficiency 23	Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG...	OMIM:615816
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Acral Peeling Skin Syndrome	Scaling skin, Erythema, Eczema, Excessive wrinkling of palmar skin	ORPHA:263534
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Erythema Palmare Hereditarium	Erythema	OMIM:133000
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema	Erythema migrans	OMIM:609352
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Benign Chronic Pemphigus	Erythema	OMIM:169600
Annular Erythema	Erythema	OMIM:106500
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema, Abnormality of tumor necros...	ORPHA:83453
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia...	OMIM:304790
Juvenile Arthritis	Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythem...	OMIM:612843
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma, Cutaneous photos...	ORPHA:330064
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:615821
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev...	ORPHA:100024
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Palmar pruritus, Palmoplantar keratoderma, Atopic dermatitis	ORPHA:498359
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585
Ichthyosis-Prematurity Syndrome	Eosinophilia, Ichthyosis	ORPHA:88621
Atrichia With Papular Lesions	Sparse hair, Generalized papillary lesions	OMIM:209500
Zika Virus Disease	Maculopapular exanthema, Skin rash, Subcutaneous hemorrhage, Miscarriage, Pruritus, Thrombocytope...	ORPHA:448237
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemi...	OMIM:300635
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Subcutaneous nodule, Skin ulcer, Arthritis	ORPHA:231
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc...	OMIM:613179
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Hypoalbuminemia, Neutrop...	ORPHA:37042
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Widow's peak, Bronchiolitis, Periodontitis, Reduction of neutrophil moti...	OMIM:266265
Trichothiodystrophy 3, Photosensitive	Cataract, Brittle hair, Increased circulating IgA level, Abdominal adhesions, Developmental catar...	OMIM:616395
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti...	ORPHA:79147
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near...	OMIM:614699
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Dermatofibrosarcoma Protuberans	Subcutaneous nodule, Erythema, Skin ulcer	ORPHA:31112
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Cataract, Corneal erosion, Erythema, Enterocolitis, Ulcerativ...	OMIM:614878
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Myeloproliferative disorder	OMIM:607685
Keratolytic Winter Erythema	Erythema	OMIM:148370
C1Q Deficiency 2	Chilblains, Elevated circulating C-reactive protein concentration, Pneumocystis carinii pneumonia...	OMIM:620321
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Extensor Tendons Of Finger Anomalies	Limitation of joint mobility, Osteoporosis, Camptodactyly of finger	ORPHA:3294
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas...	ORPHA:3261
Mastocytosis, Cutaneous	Urticaria, Erythema, Telangiectasia macularis eruptiva perstans	OMIM:154800
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Myositis, Sinusitis, Skin rash, Hypertriglyceridemia, Thrombocytopenia, Splenomegal...	OMIM:617591
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Recurrent loss of toenails and fingernails, Erythema, Crusting erythematous dermatitis, Telangiec...	ORPHA:158673
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Facial erythema, Nail dystrophy, Nail dysplasia, Dry skin	OMIM:212360
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Cortisone Reductase Deficiency 1	Alopecia, Acne, Hirsutism	OMIM:604931
Aicardi-Goutieres Syndrome 5	Chilblains, Increased circulating interferon-gamma concentration, Scaling skin, Dry skin, Thrombo...	OMIM:612952
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Abnormal hair morphology, Erythema, Cutaneous photosensitivity, Abnormality ...	ORPHA:317
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul...	OMIM:619846
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia...	OMIM:150550
Selective Igm Deficiency	Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella...	ORPHA:331235
Roifman Syndrome	Hip contracture, Epiphyseal dysplasia, Eosinophilia, Delayed proximal femoral epiphyseal ossifica...	ORPHA:353298
Progressive Symmetric Erythrokeratodermia	Erythema	ORPHA:316
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Acquired Ichthyosis	Pruritus, Erythema, Recurrent skin infections, Dry skin	ORPHA:454
Keratosis Pilaris Atrophicans	Absent eyelashes, Erythema, Sparse eyebrow	OMIM:604093
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thromboc...	OMIM:603554
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Superficial Epidermolytic Ichthyosis	Ichthyosis, Palmoplantar keratoderma, Thin skin, Acantholysis	ORPHA:455
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk...	OMIM:616576
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Skin ulcer, Decreased circulating antibody level, Leukopen...	ORPHA:33355
Pyoderma Gangrenosum	Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Atrophic scars, Increased cir...	ORPHA:48104
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:79151
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Chilblain Lupus 1	Chilblains, Skin ulcer	OMIM:610448
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Erythematous pap...	ORPHA:90280
Zinc Deficiency, Transient Neonatal	Alopecia, Eczema	OMIM:608118
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Elevated circulating creatine kinase concentration, Sparse eye...	OMIM:604173
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Familial Cold Autoinflammatory Syndrome 3	Allergic rhinitis, Pruritus, Angioedema, Erythema, Dermatographic urticaria, Cold urticaria, Recu...	OMIM:614468
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H...	ORPHA:911
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira...	OMIM:310350
Porphyria Cutanea Tarda, Type I	Fragile skin, Eczema, Hypertrichosis	OMIM:176090
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti...	OMIM:233710
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Neutrope...	OMIM:601495
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma	OMIM:608649
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg...	OMIM:618935
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti...	ORPHA:275
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia	OMIM:613606
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertension, Th...	ORPHA:824
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti...	OMIM:233690
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig...	OMIM:300636
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617526
Cinca Syndrome	Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve...	OMIM:607115
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythema, Follicu...	OMIM:308800
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pn...	ORPHA:454831
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Dry skin, Ectodermal dysplasia,...	ORPHA:2890
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Erythema Of Acral Regions	Erythema	OMIM:227000
Alpha-Heavy Chain Disease	Hepatomegaly, Alopecia, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascite...	ORPHA:100025
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Low anterior hairline, Sepsis, Leukopenia, Coarse hair, Hypoalbuminemia, Macrovesicula...	OMIM:617303
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger	ORPHA:2787
Maculopapular Cutaneous Mastocytosis	Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flu...	ORPHA:79457
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Pruritus, Parakeratosis, Palmoplantar hyperkeratosis	ORPHA:158681
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat...	OMIM:618261
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Autosomal Erythropoietic Protoporphyria	Pruritus, Cutaneous photosensitivity, Erythema, Eczema	ORPHA:79278
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil...	ORPHA:229717
Congenital Lethal Erythroderma	Urticaria, Congenital exfoliative erythroderma, Dry skin	ORPHA:1954
Wiskott-Aldrich Syndrome	Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, In...	OMIM:301000
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Lymphade...	OMIM:615387
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Dystrophic fingernails, Thin nail, Sparse eye...	OMIM:257980
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Hepatosplenomegaly, Erythematous plaque, Panniculitis, Hemophagocytosis, Erythematous...	ORPHA:86884
Immunodeficiency, Common Variable, 6	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, ...	OMIM:613496
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers...	ORPHA:1008
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc...	ORPHA:83471
Primary Erythromelalgia	Pruritus, Erythema	ORPHA:90026
Winchester Syndrome	Osteolysis involving tarsal bones, Generalized osteoporosis, Broad metacarpals, Carpal osteolysis	OMIM:277950
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R...	OMIM:307200
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ...	ORPHA:477
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Urticari...	OMIM:120100
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er...	OMIM:104100
Cutaneous Mastocytoma	Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Thickened skin, Angioedema, Erythe...	ORPHA:79455
Osteoporosis	Osteoporosis	OMIM:166710
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Protoporphyria, Erythropoietic, 1	Pruritus, Erythema, Eczema	OMIM:177000
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Hepatomegaly, Recurrent urinary tract infections, Recurrent skin infections, Recurre...	OMIM:620210
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Chronic mucocu...	OMIM:608971
Immunodeficiency 12	Abnormal lymphocyte count, Recurrent viral infections, Osteoporosis, Clubbing, Recurrent bacteria...	OMIM:615468
Chediak-Higashi Syndrome	Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Iris hypopigmentation, Impaire...	OMIM:214500
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec...	OMIM:615122
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Congenital Ichthyosiform Erythroderma	Keratitis, Pruritus, Erythroderma, Palmoplantar keratoderma, Ichthyosis	ORPHA:79394
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Carboxypeptidase N Deficiency	Urticaria, Angioedema, Allergic rhinitis	OMIM:212070
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Increased circulating IgA level, Peritonitis, Erythema, Lymphadenopathy, Urticaria,...	ORPHA:343
Immunodeficiency 88	Eosinophilia	OMIM:619630
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Myocarditis, Angioedema, Erythema, Hepatitis, Thyroiditis, Lymp...	ORPHA:139402
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Epicanthus, Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infect...	OMIM:614069
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Immunodeficiency 96	Conjunctival telangiectasia, Eczema, Increased proportion of gamma-delta T cells, Recurrent infec...	OMIM:619774
Dermatitis Herpetiformis	Eczema, Pruritus, Erythema, Urticaria, Skin vesicle	ORPHA:1656
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,...	OMIM:308220
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Skin ulcer, Anemia,...	ORPHA:507
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis	ORPHA:26137
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Ectodermal dysplasia, Atrichia, Nail dystrophy, Nail dysplasia, S...	OMIM:614931
Atrophoderma Vermiculata	Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule	ORPHA:79100
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Hyperkeratosis Lenticularis Perstans	Papule, Aplasia/Hypoplasia of the skin, Skin ulcer	ORPHA:409
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Arthritis, Inflammation of the...	ORPHA:324964
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve...	OMIM:300291
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin, Fragile skin	OMIM:146590
Netherton Syndrome	Sparse scalp hair, Recurrent respiratory infections, Skin rash, Sparse eyelashes, Eczema, Sparse ...	ORPHA:634
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615271
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp...	OMIM:617006
Immunodeficiency 43	Hypoproteinemia, Recurrent respiratory infections, Lung abscess, Decreased specific antibody resp...	OMIM:241600
Paget Disease, Extramammary	Eczematoid dermatitis	OMIM:167300
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Decreased c...	OMIM:617425
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
H Syndrome	Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Microcytic anemia, Bronchiectasis...	ORPHA:168569
Prolidase Deficiency	Hepatomegaly, Abnormal fingernail morphology, Pruritus, Splenomegaly, Erythema, Crusting erythema...	ORPHA:742
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre...	ORPHA:48435
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Cutis laxa, Absent pubic hair,...	ORPHA:2269
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Immunodeficiency 58	Colitis, Scaling skin, Chronic otitis media, Recurrent cutaneous abscess formation, Psoriasiform ...	OMIM:618131
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Lymphadenitis, Granulomatosis, Hepatomegaly, Recurrent E. coli infections, Lymphad...	OMIM:306400
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c...	OMIM:619693
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph...	OMIM:301078
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Ichthyosis With Confetti	Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythrod...	OMIM:609165
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Osteoporosis, Diaphyseal dysplasia, Th...	OMIM:614727
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Incontinentia Pigmenti	Ridged nail, Uveitis, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alopecia, Alopecia, Macu...	OMIM:308300
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom...	OMIM:615688
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Immunodeficiency, Common Variable, 10	Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Recurrent sinusiti...	OMIM:615577
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal...	ORPHA:232
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p...	ORPHA:209004
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru...	OMIM:615607
L-Ferritin Deficiency	Alopecia	OMIM:615604
Premature Ovarian Failure 2B	Osteoporosis	OMIM:300604
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Large clumps of pigment irregularly distributed along hair s...	ORPHA:167
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Elevated circu...	OMIM:614034
Absence Of Fingerprints-Congenital Milia Syndrome	Thickened skin, Skin rash, Thin skin	ORPHA:1658
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Recu...	OMIM:228600
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Erythroderma	OMIM:618840
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Alopecia totalis, Abnormality of the nail	OMIM:302000
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Arthritis, Increased circul...	ORPHA:69126
Immunodeficiency 84	Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc...	OMIM:619437
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Psoriasiform dermatitis, Decreased lymphocyte proliferation in response...	ORPHA:221139
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Muckle-Wells Syndrome	Maculopapular exanthema, Elevated circulating C-reactive protein concentration, Leukocytosis, Con...	OMIM:191900
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ...	OMIM:616050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo...	OMIM:102700
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Angiostrongyliasis	Increased circulating IgA level, Pruritus, Hypereosinophilia, Unusual CNS infection, Increased ci...	ORPHA:74
Lig4 Syndrome	Pancytopenia, Psoriasiform dermatitis, Low anterior hairline, Telangiectasia, Acute lymphoblastic...	OMIM:606593
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Hair-nail ectodermal dysplasia, Abno...	OMIM:614929
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Pruritus, Sp...	ORPHA:98849
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Eosinophilia, Pruritus, Abnormal hair morphology, Paronychia, I...	ORPHA:2314
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Sparse hair, Dry skin, ...	OMIM:618535
Sydenham Chorea	Septic arthritis, Erythema, Endocarditis	ORPHA:306731
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Petechiae, Splenomegaly, L...	OMIM:612840
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Death in infancy, Splenomegaly, Leukocytosis, Intraalveolar pho...	OMIM:618042
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Chronic rhinitis	OMIM:615225
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Juvenile Hyaline Fibromatosis	Subcutaneous nodule, Papule, Aplasia/Hypoplasia of the skin, Skin ulcer	ORPHA:2028
Roifman Syndrome	Hepatomegaly, Eosinophilia, Eczema, Splenomegaly, Recurrent pneumonia, Prominent eyelashes, Lymph...	OMIM:616651
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Ifap Syndrome 2	Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail dystrophy, ...	OMIM:619016
Elastoderma	Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa	ORPHA:228240
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Abnormal hair morphology, Stillbirth, Intestinal lymphangiectasi...	OMIM:152800
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis	ORPHA:79399
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps...	ORPHA:183675
Porphyria Cutanea Tarda	Alopecia, Onycholysis, Facial hypertrichosis, Cutaneous photosensitivity, Fragile skin	OMIM:176100
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl...	ORPHA:2501
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin	ORPHA:2812
Drug-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Erythema	ORPHA:90157
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Systemic Lupus Erythematosus 17	Lymphopenia, Alopecia, Autoimmune thrombocytopenia, Thrombocytopenia, Leukopenia, Optic neuritis,...	OMIM:301080
Igg4-Related Aortitis	Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c...	ORPHA:449400
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Purpura, Monoclonal elev...	ORPHA:91139
Aplasia Cutis Congenita	Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin	ORPHA:1114
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Mal De Meleda	Perioral erythema, Fragile nails	OMIM:248300
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Epicanthus, Recurrent infections, Decreased circulating antibody level	OMIM:616911
Wells Syndrome	Skin vesicle, Eosinophilia, Pruritus	ORPHA:901
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Increased circulating IgE level, Hypereosinophilia	ORPHA:2902
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Meningitis, Angioedema, Uveitis, L...	ORPHA:36412
Anonychia With Flexural Pigmentation	Hyperkeratosis, Follicular hyperkeratosis	ORPHA:69125
Prolidase Deficiency	Hepatomegaly, Petechiae, Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting er...	OMIM:170100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Epicanthus, Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM le...	OMIM:242860
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Ichthyosis Vulgaris	Eczematoid dermatitis, Ichthyosis	OMIM:146700
Copper Deficiency, Familial Benign	Curly hair, Early balding, Seborrheic dermatitis	OMIM:121270
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Eczema, Thrombocytopenia, Decreased circulating antibody level,...	OMIM:618116
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Pruritus, Urticaria, Angioedema, Erythema	ORPHA:100057
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop...	ORPHA:1304
Trichothiodystrophy 1, Photosensitive	Brittle hair, Microcornea, Sparse hair, Tiger tail banding, Decreased circulating IgG level, Deat...	OMIM:601675
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Immunodeficiency 22	Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ...	OMIM:615758
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Psoriasiform dermatitis, Severe B lymphocytopenia, Alopecia totalis, Autoimmune thrombo...	ORPHA:293978
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal a...	OMIM:612541
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Urticaria, Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Harlequin Ichthyosis	Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma	ORPHA:457
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Epidermodysplasia Verruciformis	Pustule, Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Sparse hair, Erythroderma, Chronic otitis media, Dry skin, Abn...	ORPHA:313
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Thin eyebrow, Abnormally low T cell receptor excision circle level	OMIM:618092
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne...	OMIM:614868
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Arthritis, Patchy alopecia, Iritis	OMIM:109650
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,...	OMIM:611762
Eosinophilopenia	Decreased eosinophil count, Urticaria, Allergic rhinitis	OMIM:131430
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat...	OMIM:616295
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Psoriasiform lesion, Pruritus, Iridocycliti...	ORPHA:85436
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Thrombocytopenia 1	Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet...	OMIM:313900
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnormal carpal mor...	ORPHA:93351
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis, Scaling skin	OMIM:617115
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Portal hypertension, Pruritus, Hypersplenism, Leukocytosis...	ORPHA:98850
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho...	ORPHA:79106
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Acral ulceration, Skin ulcer	ORPHA:139578
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Acne inversa	OMIM:608068
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Griscelli Syndrome	Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal eyelash morpholog...	ORPHA:381
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis, Acrocyanosis	ORPHA:3165
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv...	ORPHA:2968
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Ectodermal dysplasia, Scaling skin...	OMIM:604536
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Acral Self-Healing Collodion Baby	Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat...	ORPHA:2200
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis	ORPHA:89838
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Autoimmune Hepatitis	Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Spider hemangioma, Splenomegaly, ...	ORPHA:2137
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Subcorneal Pustular Dermatosis	Pruritus, Erythema, Pustule, Rheumatoid arthritis	ORPHA:48377
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis, Severe infection	ORPHA:206594
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical...	ORPHA:2686
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Familial Cold Urticaria	Pruritus, Erythema, Urticaria, Arthritis, Conjunctivitis	ORPHA:47045
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co...	ORPHA:53697
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Decreased circulating antibody level...	ORPHA:90045
Fixed Drug Eruption	Stomatitis, Erythema, Crusting erythematous dermatitis, Generalized abnormality of skin	ORPHA:293812
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl...	OMIM:614372
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Hyperglycemia, Retinal thinning	OMIM:618970
Specific Granule Deficiency 2	Absent neutrophil specific granules, Death in infancy, Thrombocytopenia, Recurrent pneumonia, Hir...	OMIM:617475
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Urticaria, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fing...	ORPHA:2251
Sjögren-Larsson Syndrome	Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the eye	ORPHA:816
Eosinophilic Gastroenteritis	Allergic rhinitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Leukocyto...	ORPHA:2070
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i...	ORPHA:906
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno...	ORPHA:793
Recon Progeroid Syndrome	Progeroid facial appearance, Hyperconvex thumb nails, Hirsutism, Absent lower eyelashes, Livedo r...	OMIM:620370
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Colitis, Pallor, Neutrophilia, Leukocytosis, Angioedema...	ORPHA:3260
Transgrediens Et Progrediens Palmoplantar Keratoderma	Recurrent bacterial skin infections, Hyperconvex nail, Angular cheilitis, Onychogryposis, Recurre...	ORPHA:495
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerato...	OMIM:158310
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Urticaria, Arthritis, Conjunctiviti...	ORPHA:575
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t...	OMIM:275350
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent upper respiratory tract infections, Bronchiectasis, Livedo, Decreased circulating total...	OMIM:615139
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype...	ORPHA:2199
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Perianal erythema, Impaired T cell function, Splenomegaly, Paronychia, Recurrent ca...	OMIM:201100
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ...	OMIM:618999
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus...	OMIM:618213
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Osteomyelitis, Skin ulcer	ORPHA:2218
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ...	OMIM:617974
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Eczema, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocyt...	OMIM:615895
Primary Biliary Cholangitis	Portal hypertension, Increased circulating IgA level, Pruritus, Conjugated hyperbilirubinemia, Ja...	ORPHA:186
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer	OMIM:604571
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Myositis, Elevated circulating creatine kinase concentration	OMIM:253600
Poems Syndrome	Thickened skin, Abnormality of skin physiology, Leukonychia, Lymphadenopathy, Increased circulati...	ORPHA:2905
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, Skin ulcer, Pa...	ORPHA:848
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Isolated Glycerol Kinase Deficiency	Osteoporosis	ORPHA:408
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ja...	ORPHA:39812
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Alopecia, Skin rash, Pneumonia, Decreased circulating c...	ORPHA:2298
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukopenia, L...	ORPHA:50918
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura	ORPHA:743
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail...	OMIM:258360
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Lichen Planopilaris	Hypopigmented skin patches, Hepatitis, Skin ulcer, Dermal atrophy, Papule	ORPHA:525
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Recurrent bacterial skin infections, Viral hepatiti...	ORPHA:101330
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir...	ORPHA:36234
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Ectoderm...	OMIM:613573
Hemochromatosis, Type 3	Lymphopenia, Anemia, Neutropenia	OMIM:604250
Ameloonychohypohidrotic Syndrome	Dry skin, Onycholysis, Seborrheic dermatitis	OMIM:104570
Dowling-Degos Disease 4	Pruritus, Epidermal acanthosis, Hypergranulosis	OMIM:615696
Prieto Syndrome	Clinodactyly, Osteoporosis, Radial deviation of finger, Coxa valga	OMIM:309610
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, En...	OMIM:208230
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Familial Hyperprolactinemia	Osteopenia, Osteoporosis	ORPHA:397685
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Thickened skin, Hepatitis, ...	ORPHA:436252
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Finger clinodactyly, Osteoporosis, Coxa valga	ORPHA:2958
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Fractures of the long bones, Osteoporosi...	ORPHA:319195
Hermansky-Pudlak Syndrome 2	Albinism, Periodontitis, Recurrent abscess formation, Neutropenia, Hepatomegaly, Decreased CD4:CD...	OMIM:608233
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Trichothiodystrophy	Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Microcornea, Conjunctivitis, Neut...	ORPHA:33364
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Cardiomyopathy, Type II diabetes mellitus, Hyperglycemia, Retinal degener...	OMIM:520000
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Complement Component 6 Deficiency	Decreased circulating complement C6 concentration, Reduced hemolytic complement activity, Recurre...	OMIM:612446
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Chronic Granulomatous Disease	Macule, Sinusitis, Liver abscess, Eczema, Hypermelanotic macule, Abnormality of neutrophils, Sple...	ORPHA:379
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Cheilitis, Ski...	ORPHA:37
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis	ORPHA:79148
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Acanthosis nigricans, Hyperkeratosis, Parakeratosis, Ichthyosis	OMIM:618527
Tempi Syndrome	Facial erythema, Telangiectasia, Increased circulating IgG level, Increased hematocrit, Ascites, ...	ORPHA:284227
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Lig4 Syndrome	Hepatomegaly, Epicanthus, Telecanthus, Pancytopenia, Telangiectasia of the skin, Leukocytosis, Er...	ORPHA:99812
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Os...	ORPHA:3409
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Odontochondrodysplasia 1	Recurrent respiratory infections, Short metacarpal, Brachydactyly, Metaphyseal widening, Osteopor...	OMIM:184260
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Papular Xanthoma	Histiocytosis	ORPHA:158008
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis, Erythroderma	OMIM:133190
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo...	OMIM:614457
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Complement Component 7 Deficiency	Decreased circulating complement C7 concentration, Recurrent Neisserial infections, Recurrent men...	OMIM:610102
Acrogeria	Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer	ORPHA:2500
Incontinentia Pigmenti	Alopecia, Skin rash, Eosinophilia, Abnormal fingernail morphology, Supernumerary nipple, Keratiti...	ORPHA:464
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Sneddon Syndrome	Cutis marmorata, Livedo reticularis, Livedo, Decreased circulating total IgM, Livedo racemosa, Ly...	OMIM:182410
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Paronychia, Recurrent abscess formation, Recurrent aphthou...	OMIM:260570
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Epicanthus, Telecanthus, Thick hair, Thrombocytopenia, Sepsis, ...	ORPHA:505248
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec...	ORPHA:319552
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Osteoporosis	OMIM:618625
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ectodermal dysplasia, Facial telangiectasia, Sparse hair, Aplasia/Hypoplasia of the eye...	ORPHA:50944
Coccidioidomycosis	Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor...	ORPHA:228123
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, H...	OMIM:242100
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased circulating antibody level, Hypocystinemia, Decreased serum ...	OMIM:617744
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Abscess, Eosinophilia, Hepatic cysts, Abnormality o...	ORPHA:400
Waldenström Macroglobulinemia	Normocytic anemia, Cryoglobulinemia, Hepatomegaly, Purpura, Cutis marmorata, Abnormality of neutr...	ORPHA:33226
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Leukocytosis, Cheil...	ORPHA:247353
Hypergonadotropic Hypogonadism-Cataract Syndrome	Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2410
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Abnorma...	ORPHA:158057
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula...	OMIM:301074
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Cutis marmorata, Circulating immune complexes, Splenomegaly, Media...	ORPHA:91138
Buerger Disease	Skin ulcer	ORPHA:36258
Idiopathic Trachyonychia	Ridged nail, Thin nail, Autoimmune thrombocytopenia, Concave nail, Atopic dermatitis, Nail pits, ...	ORPHA:79153
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Corneal opacity, Erythema, Onychogryposis, Sepsis, Decreased...	ORPHA:79396
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Iridocyclitis, Hepa...	ORPHA:227990
Syndromic Diarrhea	Lymphopenia, Hypopigmentation of hair, Brittle hair, Gastritis, Hepatoblastoma, Increased mean pl...	ORPHA:84064
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Ret...	ORPHA:79078
Granulomatous Slack Skin	Erythema, Redundant skin, Cutis laxa	ORPHA:33111
Avian Influenza	Miscarriage, Pneumonia, Elevated circulating creatine kinase concentration, Elevated circulating ...	ORPHA:454836
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Subcutaneous nodule, Neutropenia, Papu...	ORPHA:228119
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Cone-shaped epiphysis, Osteoporosis	ORPHA:71267
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Facial erythema	OMIM:618307
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Ne...	ORPHA:171
Shigellosis	Hyponatremia, Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Abnor...	ORPHA:810
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Conjunctivitis, Blepharitis	ORPHA:254478
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r...	ORPHA:51636
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Chromomycosis	Keratitis, Pruritus, Hyperparakeratosis, Hyperkeratosis, Keratoconjunctivitis sicca, Hyperkeratot...	ORPHA:182
Lassa Fever	Miscarriage, Jaundice, Sepsis, Increased circulating IgM level, Conjunctivitis	ORPHA:99824
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615267
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Cutaneous photosensitivity, Skin fragility with non-scarring bl...	ORPHA:79397
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, ...	ORPHA:79501
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec...	OMIM:301045
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Thickened skin, Acne, Seborrheic dermatitis	OMIM:614441
Mycetoma	Recurrent bacterial skin infections, Osteomyelitis, Bone cyst, Osteoporosis, Abnormal forearm bon...	ORPHA:2583
Congenital Bile Acid Synthesis Defect Type 1	Splenomegaly, Osteoporosis	ORPHA:79301
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Elevated circulating alpha-f...	ORPHA:420741
Erythema Elevatum Diutinum	Skin vesicle, Skin rash, Vasculitis in the skin	ORPHA:90000
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Lymphopenia, Peritoneal effusion, Cryptococcal meningitis, Decreased circulating...	ORPHA:90362
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Iridocyclitis, Hepa...	ORPHA:227982
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal a...	ORPHA:83617
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Osteoporosis	ORPHA:2786
Rift Valley Fever	Skin rash, Miscarriage, Thrombocytopenia, Jaundice, Severe viral infection, Hepatitis, Uveitis, R...	ORPHA:319251
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin...	OMIM:137100
Mixed Connective Tissue Disease	Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Alopecia, Hepatomegaly, Myocardit...	ORPHA:809
Darier-White Disease	Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis	OMIM:124200
Bloom Syndrome	Recurrent herpes, Severe varicella zoster infection, Paronychia, Uveitis, Otitis media, Decreased...	ORPHA:125
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc...	ORPHA:2788
Complex Regional Pain Syndrome	Dry skin, Abnormality of hair growth, Slow-growing nails, Erythema	ORPHA:83452
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Craniosynostosis, Osteoporosis, Joint hyperflexibility, Abnorma...	ORPHA:1515
Complement Factor D Deficiency	Recurrent bacterial infections, Partial functional complement factor D deficiency	OMIM:613912
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Acne, Dorsocervical fat pad, Bruising susceptibility, Fragile skin, Hirsutism	OMIM:615830
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level	OMIM:146830
Ollier Disease	Anemia, Subcutaneous nodule, Skin ulcer	ORPHA:296
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Pallor, Neutropenia, Stoma...	OMIM:246400
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Acantholysis	ORPHA:704
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Increased circulating IgE level, Br...	ORPHA:1163
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis, Decreased circulating complement C8 concentration	OMIM:613789
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Alopecia, Eczema, Thyroiditis, Iron deficiency anemia, Recurrent aphthous stom...	OMIM:212750
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Hypoalbuminemia, Thro...	OMIM:226300
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Erysipelas	OMIM:615704
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Felty Syndrome	Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal...	ORPHA:47612
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Alopecia, Epidermal acanthosis, Erythema, Hyperkeratosis, Congenital ichthyosiform...	OMIM:308050
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Lymphadenopathy	OMIM:616126
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, T lymphocytopenia, Narrow greater sciatic notch, Decreased circulating Ig...	ORPHA:508533
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Acquired Partial Lipodystrophy	Progeroid facial appearance, Decreased circulating complement C3 concentration, Lymphocytosis, He...	ORPHA:79087
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, P...	OMIM:607823
Esophagitis, Eosinophilic, 2	Eosinophilia, Esophagitis	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Esophagitis	OMIM:610247
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Lupus Erythematosus Tumidus	Cutaneous photosensitivity, Deep dermal perivascular inflammatory infiltrate, Scaling skin	ORPHA:90283
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Autoerythrocyte Sensitization Syndrome	Superficial dermal perivascular inflammatory infiltrate, Thrombocytosis, Autoimmune thrombocytope...	ORPHA:324636
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Recurrent aspiration ...	ORPHA:79124
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Osteoporosis, Elbo...	OMIM:259450
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair, Cutaneous photosensitivity	OMIM:234030
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Idiopathic Hypercalciuria	Osteopenia, Osteoporosis	ORPHA:2197
Bloom Syndrome	Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Bronchiectasis, Malar rash...	OMIM:210900
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:289390
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Osteoporosis	OMIM:616033
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Short thumb, Osteoporosis, Recurrent infections, Increased mean co...	OMIM:612562
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Warburg Micro Syndrome 1	Overlapping toe, Perisylvian polymicrogyria, Osteoporosis, Joint hypermobility	OMIM:600118
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Intermediate Uveitis	Anterior uveitis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Optic neuritis	ORPHA:279914
Chronic Mucocutaneous Candidiasis	Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, Cheilitis, Hepatitis, Broad nail, ...	ORPHA:1334
Listeriosis	Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjunctivitis...	ORPHA:533
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Synophrys, Decreased circulating total IgM, Decreased circulating IgG level, Hirsutism, Decreased...	OMIM:300861
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia	OMIM:603585
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Dry skin, Scaling skin, Erythroderma	OMIM:609180
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating IgG level, ...	ORPHA:99827
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Telangiectasia, Livedo, Onycholysis, Nail dystrophy, Facial ...	OMIM:614564
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Cutis marmorata, M...	ORPHA:183
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating c...	OMIM:242150
Lymphatic Malformation 3	Recurrent skin infections	OMIM:613480
Acquired Purpura Fulminans	Macule, Erythematous macule, Skin rash, Pyoderma gangrenosum, Macular purpura, Thrombocytopenia	ORPHA:49566
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening, Short metatarsal, ...	OMIM:251450
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l...	OMIM:619381
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Decreased circulating IgA level	OMIM:215250
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Palmoplantar hyperkeratosi...	OMIM:605676
Familial Keratoacanthoma	Papule, Subcutaneous nodule, Skin ulcer	ORPHA:493
Niemann-Pick Disease, Type A	Recurrent respiratory infections, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteop...	OMIM:257200
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Osteomyelitis, Epidermal acanthosis, Skin rash, Elevated circulating C-reactive pro...	OMIM:612852
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Erythroderma...	ORPHA:35173
Mevalonic Aciduria	Normocytic hypoplastic anemia, Cataract, Skin rash, Elevated circulating creatine kinase concentr...	OMIM:610377
Gamma-A-Globulin, Defect In Assembly Of	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137050
Biotinidase Deficiency	Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly...	OMIM:253260
Juvenile Paget Disease	Bowing of the long bones, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Coarse metaphy...	ORPHA:2801
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, E...	ORPHA:449563
Hemophagocytic Syndrome Associated With An Infection	Opportunistic bacterial infection, Neutropenia, Hepatomegaly, Abnormal cytokine signaling, Severe...	ORPHA:158048
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair	ORPHA:2985
Igg4-Related Submandibular Gland Disease	Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Increased ...	ORPHA:449432
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce...	ORPHA:158061
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Elevated circulating C-reactive prot...	OMIM:116920
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Recurrent upper respiratory tra...	OMIM:615952
Takayasu Arteritis	Increased inflammatory response, Subcutaneous nodule, Skin ulcer, Arthritis, Inflammatory abnorma...	ORPHA:3287
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Cutis marmorata, Absent eyel...	ORPHA:69735
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod...	OMIM:148700
Vici Syndrome	Elevated circulating creatine kinase concentration, Albinism, Recurrent viral infections, Leukope...	OMIM:242840
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Osteoporosis, Genu valgum	OMIM:614880
Ataxia-Telangiectasia	Conjunctival telangiectasia, Lymphopenia, Sinusitis, Recurrent bronchitis, Elevated circulating a...	OMIM:208900
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Pruritus, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnormal intrahepatic bile ...	ORPHA:562639
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Recurrent respirator...	OMIM:607616
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Cutis marmorat...	ORPHA:727
Sialidosis Type 2	Splenomegaly, Flexion contracture, Osteoporosis	ORPHA:87876
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Ataxia-Telangiectasia	Recurrent respiratory infections, Hypopigmentation of hair, Prematurely aged appearance, Telangie...	ORPHA:100
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Trichohepatoenteric Syndrome 1	Curly hair, Hepatomegaly, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair...	OMIM:222470
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Recurrent pneumonia, He...	OMIM:619750
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Microcytic anemia, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin, Hypertrichosis	OMIM:612379
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Complement Component 3 Deficiency, Autosomal Recessive	Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent tonsillitis, Recurrent b...	OMIM:613779
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Cutaneous photosensitivity, V...	ORPHA:163525
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Kawasaki Disease	Pericarditis, Abnormality of nail color, Skin rash, Myocarditis, Leukocytosis, Cervical lymphaden...	ORPHA:2331
Familial Benign Chronic Pemphigus	Hyperkeratosis, Acantholysis	ORPHA:2841
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Poor wound healing, Sparse eyeb...	ORPHA:1010
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Oligoarthri...	OMIM:142680
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Osteoporosis, B...	OMIM:613849
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p...	ORPHA:449395
Pseudopseudohypoparathyroidism	Short metacarpal, Osteoporosis, Short metatarsal, Brachydactyly	OMIM:612463
Macrocephaly/Autism Syndrome	Hepatomegaly, Epicanthus, Splenomegaly, Decreased circulating antibody level, Recurrent infection...	OMIM:605309
Proteus Syndrome	Splenomegaly, Hyperkeratosis, Lymphangioma, Epidermal acanthosis	OMIM:176920
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Orchitis, Pustule, Angioedema, Erythema, Vascular skin abnormality, Skin...	ORPHA:761
Alveolar Echinococcosis	Liver abscess, Cholangitis, Eosinophilia, Portal hypertension, Hepatic cysts, Pancreatic cysts, A...	ORPHA:284
Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:461
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Petechiae, Chilblains, Splenomegaly, Erythema, Prolonged neonatal jaundice, Acrocya...	OMIM:225750
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Ectodermal dysplasia, Palmoplantar k...	OMIM:224750
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Thickened skin, Acne, Seborrheic dermatitis	OMIM:167100
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Osteomyelitis, Acral ulceration	OMIM:613115
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal met...	ORPHA:2370
Hall-Riggs Syndrome	Metaphyseal dysplasia, Osteoporosis, Brachydactyly	OMIM:234250
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent my...	ORPHA:169090
Common Variable Immunodeficiency	Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen...	ORPHA:1572
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy...	OMIM:231095
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Limb-Mammary Syndrome	Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Absent nipple, Sparse eyebr...	ORPHA:69085
Oliver-Mcfarlane Syndrome	Sparse hair, Alopecia, Long eyelashes, Long eyebrows	OMIM:275400
Analbuminemia	Recurrent lower respiratory tract infections, Osteoporosis	OMIM:616000
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Lymphadenopathy, Pan...	OMIM:619183
Holocarboxylase Synthetase Deficiency	Alopecia, Eczema, Hyperammonemia, Keratoconjunctivitis, Thrombocytopenia, Perioral eczema	ORPHA:79242
Griscelli Syndrome Type 2	Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia	ORPHA:79477
Hereditary Spherocytosis	Reticulocytosis, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous hemolytic cri...	ORPHA:822
Brooke-Spiegler Syndrome	Skin-colored papule, Skin nodule, Skin ulcer, Nodular changes affecting the eyelids	ORPHA:79493
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing	OMIM:126550
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein express...	OMIM:247100
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypoproteinemia, Pancytopenia, Hypertriglyceridemia, Skin rash, Hepatomegaly, Reduc...	OMIM:603553
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Neutropenia...	OMIM:613989
Lead Poisoning	Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn...	ORPHA:330015
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product...	ORPHA:231222
Spinocerebellar Ataxia Type 42	Psoriasiform dermatitis	ORPHA:458803
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Abnormal limb bone morphology,...	ORPHA:85435
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Acute Panmyelosis With Myelofibrosis	Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Polyarteritis Nodosa	Pericarditis, Subcutaneous nodule, Erythema, Skin ulcer	ORPHA:767
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Moynahan Syndrome	Sparse hair, Alopecia	ORPHA:2574
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei...	ORPHA:449427
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Lymphatic Filariasis	Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis, Hypereosinophilia...	ORPHA:2035
Methylcobalamin Deficiency Type Cble	Syndactyly, Macrocytic anemia, Pancytopenia, Osteoporosis, Increased mean corpuscular volume, Neu...	ORPHA:2169
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Pneumocystosis	Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Acute infectious pneumonia, Intersti...	ORPHA:723
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Arthrogryposis mult...	ORPHA:2771
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Immunodeficiency 66	Pustule, Recurrent skin infections	OMIM:618847
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Leuk...	ORPHA:20
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis	OMIM:618234
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Thrombocytopenia, Anemia, Neutropenia	ORPHA:79312
Tick-Borne Encephalitis	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosis, Meningitis...	ORPHA:297
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Alopecia, Dry skin, Palmoplantar keratoderma, Scaling skin, Nail dys...	OMIM:618373
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Bowing of the arm, ...	OMIM:619131
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Pachydermoperiostosis	Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnorm...	ORPHA:2796
Limited Cutaneous Systemic Sclerosis	Hypopigmented skin patches, Skin ulcer	ORPHA:220402
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Epicanthus, Splenomegaly, Vacuolated lymphocytes, Low anterior hairline, Decreased ...	OMIM:248500
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Enlarged interphalangeal joints, Narrow small joints of the hand, Broad femor...	ORPHA:1159
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Decrea...	OMIM:242900
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Myositis, Alopecia, Skin rash, Discoid lupus rash, Lymphadenopathy, Arthritis, Leuko...	ORPHA:93552
Epidermolysis Bullosa, Junctional 5A, Intermediate	Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope...	OMIM:619816
Bazex-Dupre-Christol Syndrome	Eczema, Trichorrhexis nodosa, Atopic dermatitis, Coarse hair, Sparse hair, Trichoepithelioma, Pil...	OMIM:301845
Fibrodysplasia Ossificans Progressiva	Alopecia, Anemia	ORPHA:337
Hereditary Sensory And Autonomic Neuropathy Type 2	Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis...	ORPHA:970
Q Fever	Abnormality of the liver, Cholecystitis, Meningitis, Infectious encephalitis, Hepatomegaly, Macul...	ORPHA:781
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,...	ORPHA:811
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p...	OMIM:274000
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Bilateral ptosis, Recurrent infections, Decreased circulating total I...	OMIM:620040
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Pallor, Hepatomegaly	ORPHA:134
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Elevated circulating C-reactive protein concentration, Meningitis, Cervical lymphadeno...	OMIM:617718
Atelis Syndrome 1	Cataract, Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Thrombocytopenia, B...	OMIM:620184
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Death in infancy, Splenomegaly, Recurrent pneumonia, Decreased circulating total Ig...	OMIM:612301
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Eczema, Thin skin, Sparse hair, Sparse body hair	ORPHA:1810
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino...	OMIM:615923
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Coxa valga, Flexion contracture, Osteoporosis, Elbow flexion contracture, Rec...	OMIM:214150
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Darier Disease	Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Subungual hyperkeratotic fragm...	ORPHA:218
Urachal Cyst	Abdominal mass, Abscess, Elevated circulating C-reactive protein concentration, Leukocytosis, Per...	ORPHA:488
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Osteoporosis, Camptodactyly of finger	ORPHA:48431
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of finger, Bone cyst, Knee osteoarthritis, Osteoporosis, Coxa vara, Short femoral n...	ORPHA:2848
Yellow Fever	Acute pancreatitis, Neutrophilia, Skin rash, Increased circulating interleukin 6 concentration, E...	ORPHA:99829
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Mastocytosis, Pneumonia, Pruritus, Erythema, Upslanted palpebral fiss...	ORPHA:2135
Stevens-Johnson Syndrome	Recurrent respiratory infections, Entropion, Abnormality of neutrophils, Acantholysis, Thrombocyt...	ORPHA:36426
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Erythema, Arthritis, Eczematoid dermatitis, Flushing	OMIM:259100
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Brachydactyly, Delayed ossification of carpal bones, Short femoral neck, Reduced bone mineral den...	OMIM:618392
Mogs-Cdg	Hepatomegaly, Alopecia, Fair hair, Cardiomegaly, Thrombocytopenia, Hirsutism, Decreased circulati...	ORPHA:79330
Toxic Epidermal Necrolysis	Recurrent respiratory infections, Entropion, Acantholysis, Thrombocytopenia, Corneal erosion, Ery...	ORPHA:537
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Osteoporosis, Camptodactyly	OMIM:616006
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia	OMIM:614520
Nicolaides-Baraitser Syndrome	Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Excessive wrinkl...	ORPHA:3051
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Alopecia, Telangiectasia of the skin, Pruritus, Erythema, Skin...	ORPHA:93672
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Nasu-Hakola Disease	Bone cyst, Limitation of joint mobility, Acute leukemia, Reduced bone mineral density, Abnormal e...	ORPHA:2770
Familial Thrombocytosis	Acute myeloid leukemia, Pruritus, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis	ORPHA:71493
Congenital Erythropoietic Porphyria	Anisocytosis, Abnormal circulating porphyrin concentration, Scarring alopecia of scalp, Leukopeni...	ORPHA:79277
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu...	OMIM:613102
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenomegaly, Bruisi...	ORPHA:77259
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Ele...	ORPHA:49041
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist...	OMIM:614856
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Clinodactyly, Osteoporosis	OMIM:614838
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Epicanthus, Pancytopenia, Death in infancy, Impaired T cell function, Elevated circ...	OMIM:614576
Perrault Syndrome 1	Osteoporosis	OMIM:233400
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Avascular necrosis of the capital femoral epiphysis, Osteoporosis,...	OMIM:613990
Porphyria, Congenital Erythropoietic	Absent eyebrow, Hemolytic anemia, Alopecia, Hepatomegaly, Splenomegaly, Jaundice, Loss of eyelash...	OMIM:263700
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Low anterior hairline, Retic...	ORPHA:124
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Limited e...	OMIM:265900
Propionic Acidemia	Pancytopenia, Osteoporosis, Anemia, Neutropenia, Thrombocytopenia	OMIM:606054
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia...	OMIM:106260
Familial Multiple Nevi Flammei	Nevus flammeus, Skin ulcer, Hypermelanotic macule, Papule	ORPHA:624
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia	OMIM:614900
Mpdu1-Cdg	Scaling skin, Eczema, Elevated circulating creatine kinase concentration, Ichthyosis	ORPHA:79323
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma	OMIM:613576
Mucolipidosis Type Iii	Craniofacial hyperostosis, Joint stiffness, Reduced bone mineral density, Abnormal hip bone morph...	ORPHA:577
Classic Galactosemia	Abnormal erythrocyte enzyme level, Osteoporosis, Sepsis, Reduced bone mineral density	ORPHA:79239
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Upslanted palpebral fissure, Dermatographic urticaria, Epicanthus, Cutaneous mastocytosis	OMIM:248910
Dermatoosteolysis, Kirghizian Type	Keratitis, Osteoarthritis, Aplasia/Hypoplasia of the skin, Skin ulcer	ORPHA:1657
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Osteoporosis	ORPHA:369
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Tenosynovial Giant Cell Tumor	Abnormal hip joint morphology, Joint stiffness, Limitation of joint mobility, Osteolysis, Abnorma...	ORPHA:66627
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Abnormal subcutaneous fat tissue distribution, Hypoalbuminemia, Hepat...	OMIM:212065
Pemphigus Erythematosus	Malar rash, Acantholysis	ORPHA:79480
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Premature graying of hair, Periodontitis, Sparse hair, Sk...	ORPHA:1775
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke...	ORPHA:158668
Sea-Blue Histiocytosis	Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Bleph...	ORPHA:158029
Short Stature, Dauber-Argente Type	Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Reduced bone mine...	OMIM:619489
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia, Reduced antigen-specific T cell proliferation, Eosinophilic ...	OMIM:616433
Tyrosinemia Type 1	Splenomegaly, Rickets of the lower limbs	ORPHA:882
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Idiopathic Juvenile Osteoporosis	Osteoporosis, Recurrent fractures	ORPHA:85193
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Cataract, Abnormal fingernail morphology, Hypoplastic toenails, Splenomeg...	ORPHA:2930
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis...	OMIM:602562
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Thrombocytopenia, Erythema...	OMIM:557000
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Sparse hair	ORPHA:659
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor...	ORPHA:494
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Snakebite Envenomation	Ecchymosis, Angioedema, Erythema, Thrombocytopenia	ORPHA:449285
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Decreased proportion ...	ORPHA:1830
Pituitary Adenoma 4, Acth-Secreting	Striae distensae, Poor wound healing, Facial erythema, Thin skin, Ecchymosis, Bruising susceptibi...	OMIM:219090
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of the capital femoral ...	ORPHA:1901
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Sepsis, Leukopenia, Increased circulating...	ORPHA:319218
Lipoid Proteinosis	Hyperkeratosis, Thickened skin, Pustule, Acne	ORPHA:530
Hjv Or Hamp-Related Hemochromatosis	Osteoporosis	ORPHA:79230
Infantile Sialic Acid Storage Disease	Hepatomegaly, Epicanthus, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated l...	OMIM:269920
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,...	ORPHA:542643
Familial Isolated Dilated Cardiomyopathy	Palmoplantar keratoderma, Elevated circulating creatine kinase concentration, Abnormality of neut...	ORPHA:154
Spondyloepiphyseal Dysplasia Tarda	Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e...	ORPHA:93284
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Rhyns Syndrome	Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly	OMIM:602152
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Nail pits, Hepatic necrosis, Premature ...	OMIM:127550
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Osteomyelitis, Skin ulcer	OMIM:613640
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Erythema, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Cataract, Corneal scarring, Conjunctivitis, Nail dystrophy, Nail dysplasia, Fragile ski...	OMIM:226600
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Seborrheic dermatitis	ORPHA:276280
Amyloidosis, Primary Localized Cutaneous, 1	Pruritus, Dry skin, Scaling skin	OMIM:105250
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level	ORPHA:411593
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont...	OMIM:259600
Immunodeficiency 10	Autoimmune hemolytic anemia, Lymphadenopathy, Hypoplasia of the iris, Recurrent bacterial infecti...	OMIM:612783
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Bowing of the long bones, Congenital hip dislocation, Shoulder flexion contractu...	OMIM:255800
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Eosinophilia, Sepsis, Generalized bone demineralization	ORPHA:199299
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Loeffler Endocarditis	Pericarditis, Eosinophilia	ORPHA:75566
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Anterior cervical hypertrichosis, Osteomyelitis	OMIM:239840
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor...	ORPHA:2176
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick...	OMIM:600081
Japanese Encephalitis	Hyponatremia, Neutrophilia, Meningitis, Increased circulating IgM level, Increased circulating an...	ORPHA:79139
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Flared metaphysis, Short middle ph...	OMIM:156510
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Cantu Syndrome	Broad hallux, Short hallux, Coxa valga, Metaphyseal widening, Osteoporosis, Broad first metatarsa...	OMIM:239850
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Tooth abscess	ORPHA:89937
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Recurrent respiratory infections, Reduced bone mineral density, Agammaglobulinemia, Long fibula, ...	ORPHA:935
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Alopecia, Long eyelashes	ORPHA:3363
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepa...	OMIM:619858
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Osteoporosis, Upper limb unde...	ORPHA:94068
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Pneumonia, Nail dystrophy, Atrichia, Acrocyanosis	ORPHA:1867
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi...	OMIM:300554
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cataract, Chronic active hepatitis, Alopecia, Asplenia, Iridocyclitis, Chroni...	OMIM:240300
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Ptosis, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Portal hypertension, Hypers...	OMIM:613385
Alg12-Cdg	Hyponatremia, Recurrent respiratory infections, Epicanthus, Redundant skin, Partial absence of sp...	ORPHA:79324
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level, Cataract, Recurrent respiratory infections	ORPHA:2571
Irida Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:209981
Free Sialic Acid Storage Disease	Splenomegaly, Skin ulcer	ORPHA:834
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Ridged nail, Pancytopenia, Cataract, Sparse eyelashes, Split nail, Alopec...	OMIM:305000
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Hepatoerythropoietic Porphyria	Facial hypertrichosis, Recurrent bacterial skin infections, Hemolytic anemia, Pruritus, Splenomeg...	ORPHA:95159
Immunoneurologic Disorder, X-Linked	Neonatal death, Decreased circulating IgG2 level	OMIM:300076
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Osteoporosis	ORPHA:529665
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Alopecia totalis, Lack of skin elasticity	ORPHA:1366
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Agel Amyloidosis	Cataract, Pruritus, Bilateral ptosis, Dry skin, Cutis laxa, Keratoconjunctivitis sicca, Blepharoc...	ORPHA:85448
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormal eyelash morphology, Thickened skin, Abnormal hair morphology, Skin ulcer, ...	ORPHA:2526
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Leukopenia, Hepatomegaly, ...	ORPHA:470
Menkes Disease	Joint laxity, Metaphyseal widening, Osteoporosis, Metaphyseal spurs	OMIM:309400
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Skin ulcer, ...	ORPHA:978
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi...	OMIM:307800
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Pruritus, Splenomegaly, Conjugated hyperbilirubinemia, Jaundice, Cholestasis, Incre...	OMIM:620010
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Alopecia totalis, Erythema, Facial erythe...	ORPHA:221016
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane...	OMIM:614162
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ...	OMIM:615726
Icf Syndrome	Recurrent respiratory infections, Epicanthus, Abnormality of neutrophils, Decreased circulating a...	ORPHA:2268
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblastic anemia	OMIM:229100
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Trichinellosis	Skin rash, Increased circulating IgE level, Central retinal artery occlusion, Anisocoria, Conjunc...	ORPHA:863
Cushing Disease	Plethora, Sparse scalp hair, Acne, Dorsocervical fat pad, Poor wound healing, Leukocytosis, Hirsu...	ORPHA:96253
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume	OMIM:611590
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:292
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Immunodeficiency 42	Hepatomegaly, Splenomegaly, BCGosis, Recurrent cutaneous fungal infections, Hypoplasia of the thy...	OMIM:616622
Cleidocranial Dysplasia	Recurrent respiratory infections, Hypoplastic scapulae, Recurrent fractures, Down-sloping shoulde...	ORPHA:1452
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Pruritus, Splenomegaly, Conjugated hyperbilirubinemia, Jaundice, Acholic stools, Po...	OMIM:619868
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Petechiae, Thrombocytopenia, Hyperkalemia, Seps...	OMIM:617053
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Flynn-Aird Syndrome	Dermal atrophy, Skin ulcer	ORPHA:2047
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Femoral bowing, Ge...	OMIM:617952
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nasolacrimal duct obst...	OMIM:103285
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated circulating C-reactive protein concentration, Abnormal lymphocyte pr...	OMIM:619573
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Ptosis	OMIM:610539
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Xq28 (MECP2) duplication	Death in childhood, Recurrent respiratory infections, Decreased circulating IgA level	DECIPHER:45
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Conjunc...	ORPHA:99826
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Abnormal fingernail morphology, Bronchiectasis	ORPHA:1164
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Sparse eyebrow, Ch...	OMIM:300953
Dowling-Degos Disease	Pruritus, Hyperkeratosis, Arthritis, Hyperkeratotic papule, Acne inversa	ORPHA:79145
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Arth...	ORPHA:536
Lymphatic Malformation 4	Hyperkeratosis	OMIM:615907
Gcgr-Related Hyperglucagonemia	Stomatitis, Necrolytic migratory erythema	ORPHA:438274
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Skin ulcer, Granulomatosis, Conjunctivitis, Chronic ...	OMIM:608710
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Metaphyseal sclerosis, Thrombocytopenia, Osteoporosis, Incr...	OMIM:612199
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Ectodermal dysplasia, Scaling skin, Periungual erythema, Atrichia, Dystr...	OMIM:308205
Geroderma Osteodysplastica	Recurrent fractures, Osteoporosis, Hip dislocation, Joint hyperflexibility, Abnormal epiphysis mo...	ORPHA:2078
Immunoglobulin Kappa Light Chain Deficiency	Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level	OMIM:614102
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis	OMIM:610628
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Eczema, Pustule, Erythema, Skin ulcer, Keratoconjunctivitis, Palmopla...	ORPHA:2907
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Cataract, Band keratopathy, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chr...	OMIM:269200
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemic pallor, Anemia of inad...	ORPHA:86839
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosis, Thrombocytop...	OMIM:617052
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short toe, Osteoporosis, Short metatarsal, Subcutaneous ossification, Short fin...	OMIM:103580
Nocardiosis	Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, D...	ORPHA:31204
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Intermittent generalized erythe...	OMIM:186580
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Hallux valgus, Osteoarthritis, Generalized joint laxity, Osteoporosis, Squared iliac ...	OMIM:618000
Basan Syndrome	Ectodermal dysplasia, Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy	OMIM:129200
Kindler Epidermolysis Bullosa	Recurrent skin infections, Erythema, Cheilitis, Hyperkeratosis, Inflammation of the large intesti...	ORPHA:2908
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respiratory infections, Anisocytosis, ...	OMIM:618278
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick...	OMIM:241530
Rheumatic Fever	Pericarditis, Sinusitis, Myocarditis, Erythema, Endocarditis, Arthritis, Pallor	ORPHA:3099
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Alopecia totalis, Facial erythema, Telang...	ORPHA:221008
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Osteoporosis, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Hypocalcemic Vitamin D-Resistant Rickets	Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Genu valgum, Abnormal hip b...	ORPHA:93160
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hyperkerat...	OMIM:602400
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Complement Factor H Deficiency	Depletion of components of the alternative complement pathway, Recurrent bacterial infections, De...	OMIM:609814
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Reduced bone mineral density	ORPHA:172
Hemochromatosis, Type 1	Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration,...	OMIM:235200
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Membranoproliferative glomerulonep...	OMIM:137940
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Hypertriglyceridemia, Hep...	OMIM:267700
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Erythema, Irido...	ORPHA:90340
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio...	OMIM:613860
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Sepsis, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Chemosis, Generalized abnorma...	ORPHA:95455
Glutamine Deficiency, Congenital	Hypoglutaminemia, Recurrent respiratory infections, Erythema, Hyperammonemia, Neonatal death	OMIM:610015
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Webbed neck, Persistence of ...	OMIM:105650
Smith-Kingsmore Syndrome	Curly hair, Downslanted palpebral fissures, Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Osteoporosis, Hip dislocation, Reduced bone min...	OMIM:616507
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
De Sanctis-Cacchione Syndrome	Keratitis, Parakeratosis, Conjunctivitis	OMIM:278800
Sepsis In Premature Infants	Neonatal sepsis, Hepatomegaly, Increased circulating interleukin 6 concentration, Cyanosis, Disse...	ORPHA:90051
19P13.3 Microduplication Syndrome	Long fingers, Osteoporosis, Hip dislocation, Hip dysplasia, Clinodactyly, Hip subluxation	ORPHA:447980
Mucopolysaccharidosis, Type Ivb	Joint laxity, Joint stiffness, Epiphyseal deformities of tubular bones, Coxa valga, Metaphyseal w...	OMIM:253010
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia	ORPHA:445038
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N...	ORPHA:251393
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ...	ORPHA:89936
Reynolds Syndrome	Hepatomegaly, Skin rash, Telangiectasia of the skin, Pruritus, Jaundice, Skin ulcer, Arthritis, K...	ORPHA:779
Relapsing Polychondritis	Episcleritis, Pericarditis, Alopecia, Chondritis of pinna, Keratitis, Myocarditis, Erythema, Hepa...	ORPHA:728
Riddle Syndrome	Decreased circulating IgG level, Dry skin	OMIM:611943
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased...	OMIM:231070
Amish Lethal Microcephaly	Decreased skull ossification, Osteoporosis, Limitation of joint mobility, Lissencephaly	ORPHA:99742
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of...	ORPHA:141083
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	OMIM:613327
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Reduced bone ...	ORPHA:1508
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Sepsis, Nephritis, In...	ORPHA:2552
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity	ORPHA:98827
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Osteopenia, Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision ci...	OMIM:617341
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Frontal upsweep of ha...	OMIM:618419
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Osteopenia, Pancytopenia, Aplastic anemia, Clubbing of fingers, Bone marrow hypocellularity, Myel...	OMIM:614742
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm...	ORPHA:2273
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased prealbumin level, Reduced circulating transferrin con...	ORPHA:90363
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Morgagni-Stewart-Morel Syndrome	Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis	ORPHA:77296
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Pruritus, Hypersplenism, Splenome...	ORPHA:64743
Legionnaires Disease	Hyponatremia, Pericarditis, Myocarditis, Splenomegaly, Jaundice, Recurrent pharyngitis, Hepatitis...	ORPHA:549
Hyperzincemia With Functional Zinc Depletion	Osteoporosis	OMIM:601979
Mucopolysaccharidosis, Type Iva	Joint laxity, Coxa valga, Epiphyseal deformities of tubular bones, Metaphyseal widening, Recurren...	OMIM:253000
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Pruritus, Gastrointestinal inflammation, Anonychia, Palmoplantar ...	ORPHA:79410
Mitochondrial Complex I Deficiency, Nuclear Type 33	Neutropenia	OMIM:618253
Complement Factor B Deficiency	Pneumonia, Decreased circulating complement factor B concentration, Peritonitis, Recurrent bacter...	OMIM:615561
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Chronic lymphocytic meningitis, Neutrophilia, Severe periodontitis, Palpebral edema...	ORPHA:99843
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Gout, ...	OMIM:232220
Myh9-Related Disease	Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Presenile cataracts...	ORPHA:182050
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Increased su...	ORPHA:371428
Premature Aging Syndrome, Okamoto Type	Osteoporosis	OMIM:601811
Cohen Syndrome	Leukopenia, Neutropenia	OMIM:216550
Familial Mediterranean Fever	Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Meningitis, Erythem...	ORPHA:342
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngitis, Recurrent infectio...	ORPHA:108
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac...	OMIM:259420
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun...	ORPHA:100026
Say-Barber-Miller Syndrome	Eczema, Highly arched eyebrow, Abnormality of the hairline, Sparse eyebrow, Erythema nodosum, Tra...	ORPHA:3132
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Osteomyelitis, Acral ulceration	OMIM:162400
Ovarian Dysgenesis 8	Osteoporosis	OMIM:618187
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr...	OMIM:239000
Alopecia Antibody Deficiency	Recurrent respiratory infections, Abnormal eyelash morphology, Decreased circulating antibody lev...	ORPHA:1006
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Leukocytosis, Aspiration pneumonia, Thrombocy...	ORPHA:94093
Interstitial Lung And Liver Disease	Hepatomegaly, Intraalveolar phospholipid accumulation, Cholestasis, Hepatic fibrosis, Cirrhosis, ...	OMIM:615486
Dubowitz Syndrome	Sparse scalp hair, Epicanthus, Telecanthus, Aplastic anemia, Eczema, Decreased circulating IgA le...	OMIM:223370
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Cataract, Severe B lymphocytopenia, Portal hypertension, Thrombocy...	OMIM:620005
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis,...	OMIM:610768
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Barth Syndrome	Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia	OMIM:302060
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation	ORPHA:66628
Generalized Eruptive Keratoacanthoma	Pruritus, Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion	ORPHA:411777
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Thickened skin, Synophrys, Hypochromic microcytic a...	ORPHA:96123
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Hyperglycemia, Rod-cone dystrophy, Retinal degeneration,...	OMIM:615986
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Brachydactyly, Multiple joint contractures, Microcytic anemia, Recurrent viral infect...	ORPHA:2959
Dermatomyositis	Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin,...	ORPHA:221
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, E...	OMIM:214900
Stuve-Wiedemann Syndrome 1	Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of finger, Os...	OMIM:601559
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Rothmund-Thomson Syndrome	Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Skin rash, Sparse eyelashes, Alopecia tot...	ORPHA:2909
Leopard Syndrome 3	Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Webbed neck, Dry skin	OMIM:613707
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph...	ORPHA:54251
Immunodeficiency 27B	Generalized lymphadenopathy, Osteomyelitis, Recurrent mycobacterial infections, Salmonella osteom...	OMIM:615978
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Petechiae, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial...	OMIM:620296
Chime Syndrome	Erythema, Skin ulcer, Acute leukemia, Fine hair, Hyperkeratosis, Ichthyosis, Sparse hair	ORPHA:3474
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Generalized...	OMIM:615846
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Webbed neck	OMIM:615279
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Telangiectasia of the skin, Keratitis, Thickened skin, Ery...	ORPHA:910
Adiposis Dolorosa	Recurrent skin infections, Telangiectasia of the skin, Sparse axillary hair, Sparse pubic hair, A...	ORPHA:36397
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Neutropenia	OMIM:609053
Noonan Syndrome 8	Hyperkeratosis, Eczema, Webbed neck	OMIM:615355
Catastrophic Antiphospholipid Syndrome	Myocarditis, Skin ulcer, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic ...	ORPHA:464343
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Hyperkeratosis, Keratoconjunctiviti...	ORPHA:238468
Ruijs-Aalfs Syndrome	Elbow flexion contracture, Clinodactyly, Osteoporosis, Down-sloping shoulders	OMIM:616200
Sarcoidosis	Hemolytic anemia, Alopecia, Hepatomegaly, Maculopapular exanthema, Eosinophilia, Portal hypertens...	ORPHA:797
Pachyonychia Congenita	Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp...	ORPHA:2309
Cockayne Syndrome Type 1	Hepatomegaly, Cataract, Progeroid facial appearance, Uveitis, Conjunctivitis, Increased blood ure...	ORPHA:90321
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation	ORPHA:179494
Biotinidase Deficiency	Alopecia, Skin rash, Recurrent viral infections, Hyperammonemia, Recurrent candida infections, Co...	ORPHA:79241
Ectodermal Dysplasia-Blindness Syndrome	Recurrent respiratory infections, Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sc...	ORPHA:1806
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Cataract, Skin rash, Erythema, Death in childhood, Left ventricular hypertrophy	OMIM:618321
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye...	OMIM:264700
Autoimmune Hypoparathyroidism	Cataract, Chronic mucocutaneous candidiasis, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hyp...	ORPHA:36913
Antisynthetase Syndrome	Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating creatine kinase conce...	ORPHA:81
Necrotizing Enterocolitis	Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Werner Syndrome	Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density	OMIM:277700
Milroy Disease	Hyperkeratosis, Erysipelas	ORPHA:79452
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Chikungunya	Maculopapular exanthema, Skin rash, Pruritus, Erythema nodosum, Crusting erythematous dermatitis,...	ORPHA:324625
Essential Fructosuria	Hyperglycemia	ORPHA:2056
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye...	OMIM:277440
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Recurrent Aspergillus infections, Autoimmune hemolytic anemia, Autoimmune thrombocyto...	ORPHA:391487
Xp21 Deletion Syndrome	Joint laxity, Osteoporosis, Reduced bone mineral density, Finger clinodactyly, Recurrent otitis m...	ORPHA:261476
Immunodeficiency 54	Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Pachyonychia Congenita 2	Sparse scalp hair, Subungual hyperkeratosis, Dry hair, Angular cheilitis, Sparse eyebrow, Follicu...	OMIM:167210
Rhizomelic Chondrodysplasia Punctata	Alopecia, Dry skin, Sparse body hair	ORPHA:177
Immunodeficiency 56	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Pneumocystis...	OMIM:615207
Pseudo-Torch Syndrome 3	Death in infancy, Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin conce...	OMIM:618886
Syndromic Recessive X-Linked Ichthyosis	Ichthyosis, Hyperkeratosis, Acute leukemia	ORPHA:281090
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Cataract, Skin rash, Elevated circ...	ORPHA:91500
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Splenomegaly, Recurrent fractures, Anemia	OMIM:618107
Epilepsy-Telangiectasia Syndrome	Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Familial Tumoral Calcinosis	Splenomegaly, Erythema, Skin rash, Hepatomegaly	ORPHA:53715
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno...	OMIM:210250
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Dent Disease 1	Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi...	OMIM:300009
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Spondylo-Ocular Syndrome	Joint hyperflexibility, Osteoporosis	ORPHA:85194
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Infectious encepha...	ORPHA:42642
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Paraproteinemia, Elevated circulating creatinine concen...	ORPHA:329918
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen	ORPHA:543
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Cor...	OMIM:148210
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Arachnodactyly, Limitation of joint mobility, Osteoporosis, Generalized osteoporosis	OMIM:236200
Infantile Myofibromatosis	Subcutaneous nodule, Skin ulcer	ORPHA:2591
Barth Syndrome	Abnormality of neutrophils	ORPHA:111
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Pancolitis, Folliculitis, Enterocolitis	OMIM:612567
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko...	ORPHA:77297
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Cataract, Recurrent skin infections, Ectropion, Corneal erosi...	ORPHA:33001
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Osteoporosis, Short metatarsal, Brachydactyly	OMIM:612462
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal widening, Larg...	OMIM:271640
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Anhidrotic ectodermal ...	OMIM:129400
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Decreased circ...	OMIM:610984
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Hallux valgus, Sandal gap, Recurrent fractures, Joint hypermobility, Craniosynostosis...	OMIM:245600
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Localized Scleroderma	Fasciitis, Abnormal skin adnexa morphology, Erythema, Uveitis, Arthritis, Patchy alopecia, Esopha...	ORPHA:90289
Xeroderma Pigmentosum, Complementation Group F	Erythema, Cutaneous photosensitivity	OMIM:278760
Crouzon Syndrome	Conjunctivitis, Iris coloboma, Ptosis	ORPHA:207
Adams-Oliver Syndrome	Alopecia, Cutis marmorata, Portal hypertension, Congenital hepatic fibrosis, Aplastic/hypoplastic...	ORPHA:974
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Beta-Thalassemia Major	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231214
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Conjunctival icterus, Increased circulating ferritin...	OMIM:194380
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Pruritus, Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging f...	OMIM:619658
Lacrimal Duct Defect	Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele	OMIM:149700
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Clinodactyly of the 5th finger, Clinodactyly, Osteoporosis	ORPHA:73272
Hereditary Orotic Aciduria	Recurrent respiratory infections, Impaired T cell function, Splenomegaly, Abnormal toenail morpho...	ORPHA:30
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Neutropenia	ORPHA:1667
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Metaphyseal sclerosis, Thrombocytopenia, Metaphyseal chondr...	OMIM:260400
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosple...	OMIM:612526
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:85414
Fountain Syndrome	Synophrys, Erythema, Cutis marmorata, Thick eyebrow	ORPHA:3219
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Abnormal cortical gyration, Flexion contracture, Osteoporosis, Rickets,...	ORPHA:2671
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg...	ORPHA:59303
Cockayne Syndrome Type 2	Hepatomegaly, Progeroid facial appearance, Uveitis, Developmental cataract, Conjunctivitis	ORPHA:90322
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Calciphylaxis	Skin ulcer	ORPHA:280062
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Microcorne...	OMIM:234050
X Small Rings	Joint laxity, Toe syndactyly, Tapered finger, Osteoporosis, 2-3 toe syndactyly, Upper limb underg...	ORPHA:96201
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma, Reduced serum alpha-1-antitrypsin	OMIM:613490
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect...	ORPHA:678
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex...	ORPHA:2614
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Synophrys, Facial erythema, Scaling skin, Chronic otitis media, Thoracic hypertrichosis, Hepatic ...	OMIM:619503
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Splenomegaly, Rickets	OMIM:211600
Hermansky-Pudlak Syndrome 9	Recurrent skin infections, Abnormal platelet aggregation, Ocular albinism, Leukopenia, Thrombocyt...	OMIM:614171
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Orchitis, Urinary bladder inflammation, Subcutan...	ORPHA:556
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Localized osteoporosis	ORPHA:199354
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Bruising susceptibility, Elevated circulating creatine kinase concentration, Follicular hyperkera...	ORPHA:300179
Farber Disease	Thrombocytopenia, Short toe, Flexion contracture, Osteoporosis, Recurrent upper respiratory tract...	ORPHA:333
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Fair hair, Eczema, Poor wound healing, Thickened skin, Atopic dermatitis, Anemia, P...	OMIM:620331
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Peroxisome Biogenesis Disorder 3B	Osteoporosis	OMIM:266510
Familial Isolated Hyperparathyroidism	Osteopenia, Generalized osteoporosis	ORPHA:99879
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Hutchinson-Gilford Progeria Syndrome	Osteolysis, Generalized osteoporosis	OMIM:176670
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Petechiae, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome...	OMIM:619463
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures	OMIM:615066
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Joint contracture, Osteoporosis	OMIM:615381
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Epicanthus, Sparse eyebrow, Synophrys, Hyposegmentation of neutrophil nuclei, Sparse ...	OMIM:620075
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Congenital ichthyosiform erythroderma, Patchy alopecia, Congeni...	OMIM:302960
Dengue Fever	Hepatomegaly, Skin rash, Pruritus, Thrombocytopenia, Leukopenia, Bruising susceptibility, Hypopro...	ORPHA:99828
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Joint stiffness, Splenomegaly, Osteoporosis, Arthr...	ORPHA:465508
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hashimoto thyroiditis	ORPHA:3143
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Glucose intolerance, D...	ORPHA:552
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Arthritis, Increased se...	OMIM:602390
Warty Dyskeratoma	Acrokeratosis, Epidermal thickening, Acantholysis	ORPHA:69745
Interstitial Lung Disease 2	Increased circulating antibody level, Cirrhosis	OMIM:178500
Ramon Syndrome	Hyperkeratosis, Telangiectasia of the skin, Generalized hirsutism	ORPHA:3019
Estrogen Resistance Syndrome	Osteopenia, Delayed epiphyseal ossification, Osteoporosis	ORPHA:785
Epidermolysis Bullosa, Junctional 1A, Intermediate	Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Neutral Lipid Storage Disease With Ichthyosis	Ptosis, Alopecia, Hypertriglyceridemia, Hepatomegaly, Micronodular cirrhosis, Abnormal granulocyt...	ORPHA:98907
Reactive Arthritis	Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, Enthesitis, Arthritis, ...	ORPHA:29207
Fanconi Anemia, Complementation Group C	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Leuk...	OMIM:227645
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia	OMIM:618856
Cushing Syndrome Due To Ectopic Acth Secretion	Plethora, Pancreatoblastoma, Neoplasm of the thymus, Recurrent cutaneous fungal infections, Ecchy...	ORPHA:99889
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, Joint hyperfl...	ORPHA:90354
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Osteoporosis	OMIM:219080
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2235
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Death in infancy, Splenomegaly, Abnormality of the spleen, Stillbirth...	ORPHA:85212
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Osteoporosis, Abnormal metaphy...	ORPHA:1517
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Decreased circulating antibody level, Long eyelashes, Blepharophimosis, Short palpe...	OMIM:606056
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Cutan...	OMIM:278730
Transketolase Deficiency	Hepatomegaly, Cataract, Seborrheic dermatitis, Uveitis, Conjunctivitis, Elevated circulating ribi...	ORPHA:488618
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Osteoporosis	OMIM:610475
Adult-Onset Nemaline Myopathy	Paraproteinemia, Mildly elevated creatine kinase	ORPHA:171442
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:616271
Usmani-Riazuddin Syndrome, Autosomal Recessive	Epicanthus, Conjunctival hyperemia	OMIM:619548
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti	ORPHA:1573
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Corneal opacity, Skin rash, Thrombocytopenia, Splenomegaly, Jaundice, Apl...	ORPHA:290
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo...	ORPHA:157215
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Psoriasiform dermatitis	ORPHA:2237
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia	ORPHA:329249
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis, Arthritis, Cherry red spot of the macula	OMIM:228000
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Splenomegaly, Rhinitis, Generalized hi...	ORPHA:93476
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, ...	OMIM:301072
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Pruritus, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterol...	ORPHA:75234
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,...	ORPHA:79329
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys...	ORPHA:289157
Acth-Independent Macronodular Adrenal Hyperplasia 2	Osteoporosis	OMIM:615954
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Osteoporosis, Lambdoidal craniosynostosis	OMIM:615398
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Skin ulcer, Inflammatory abn...	ORPHA:900
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:277380
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Cholestasis	OMIM:105200
Neuropathy, Hereditary Sensory And Autonomic, Type V	Septic arthritis, Osteoarthritis, Osteomyelitis, Acral ulceration	OMIM:608654
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Splenomegaly, Osteoporosis, Anemia, Recurrent infections	ORPHA:79240
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture, Hip dislocation	OMIM:614438
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Hyperkeratosis, Coarse hair, Sparse hair, Hidrotic ectodermal dysplasia	ORPHA:1883
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte prolife...	ORPHA:99867
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Short metacarpal, Osteoporosis	OMIM:617190
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Tapered finger, 2-3 toe cuta...	OMIM:300998
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology, Chronic mucocutaneous candidiasis	ORPHA:3453
Spondyloenchondrodysplasia With Immune Dysregulation	T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Hermansky-Pudlak Syndrome 10	Splenomegaly, Neutropenia	OMIM:617050
Sialidosis Type 1	Splenomegaly, Hyperkeratosis, Vascular skin abnormality	ORPHA:812
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Cutis marmorata, Recurrent pneumonia, Bronchie...	OMIM:301220
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Methylmalonic Aciduria, Cbla Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251100
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Petechiae, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Hyperkeratosis, Cong...	OMIM:608013
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Death in infancy, Bo...	OMIM:278000
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Neutropenia, Microcytic anemia	OMIM:251900
Xeroderma Pigmentosum, Variant Type	Entropion, Keratitis, Cutaneous telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectro...	OMIM:278750
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytosis, Sev...	ORPHA:36238
Lysinuric Protein Intolerance	Recurrent fractures, Splenomegaly, Osteoporosis, Anemia, Leukopenia, Hemophagocytosis, Thrombocyt...	OMIM:222700
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Abnormal erythrocyte enzyme level, Splenomegaly, Osteoporosis, Recurrent infections, Anemia	ORPHA:264580
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Skin vesicle, Alopecia, Hypoplastic fingernail	ORPHA:257
Congenital Disorder Of Glycosylation, Type Ig	Epicanthus, Recurrent pneumonia, Recurrent upper respiratory tract infections, Decreased circulat...	OMIM:607143
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Pontocerebellar Hypoplasia, Type 2E	Flexion contracture, Osteoporosis	OMIM:615851
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, Anemia, Ente...	ORPHA:79259
Digeorge Syndrome	Acne, Impaired T cell function, Sclerocornea, Seborrheic dermatitis, Blepharophimosis, Thrombocyt...	OMIM:188400
Xeroderma Pigmentosum, Complementation Group E	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectropion	OMIM:278740
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod...	ORPHA:3206
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Mediastinal lymphadenopathy, Severe viral infection, Bronchiecta...	ORPHA:79128
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyroiditis, Scl...	ORPHA:64744
Vici Syndrome	Recurrent respiratory infections, Death in infancy, Cataract, Decreased circulating IgG2 level, R...	ORPHA:1493
Adams-Oliver Syndrome 2	Alopecia, Cutis marmorata, Low anterior hairline, Small nail	OMIM:614219
Perrault Syndrome 4	Osteoporosis	OMIM:615300
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
22Q11.2 Deletion Syndrome	Impaired T cell function, Abnormal eyelid morphology, Hypoplasia of the thymus, Hypocalcemia, Chr...	ORPHA:567
Chronic Graft Versus Host Disease	Fasciitis, Pancytopenia, Alopecia, Poor wound healing, Urinary bladder inflammation, Thickened sk...	ORPHA:99921
Methylmalonic Acidemia With Homocystinuria Type Cblf	Neutropenia, Megaloblastic anemia	ORPHA:79284
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Death in infancy, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyp...	OMIM:619046
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Seborrheic dermatitis	OMIM:210210
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia	OMIM:618858
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Pruritus, Conj...	ORPHA:53035
Leprosy	Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Penetrating foot ulcers, ...	ORPHA:548
Oculocerebral Hypopigmentation Syndrome, Preus Type	Arachnodactyly, Abnormality of neutrophils, Reduced bone mineral density, Abnormal hip bone morph...	ORPHA:2720
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the ra...	ORPHA:2307
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Skin ulcer	ORPHA:220393
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hyp...	OMIM:604367
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Wilson Disease	Hepatomegaly, Pruritus, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Arthritis, Kayser-Fl...	ORPHA:905
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Recurrent urinary tract infections, Osteoporosis, Hepatosplenomegaly, Anemia	OMIM:619487
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Warburg-Cinotti Syndrome	Poor wound healing, Erythema, Thin skin, Follicular hyperkeratosis, Sterile abscess	OMIM:618175
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Alopecia	OMIM:612079
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Nail dystrophy...	OMIM:618165
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Distal joint laxity, Generalized joint laxity, Recurrent pneumonia, Osteoporosis, Elb...	ORPHA:1900
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Ectodermal dysplasia, Dystrophic toenail, Nail dystro...	ORPHA:3253
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Hepatosplenomeg...	ORPHA:313855
Naxos Disease	Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse...	OMIM:601214
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Hallux valgus, Bowing of the long bones, Multiple joint contractures, Arachnodactyly,...	ORPHA:536467
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Trichorrhexis nodosa, Small nail, Recurrent otitis media, Pili torti, Fragile nails, Sp...	OMIM:261990
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Ichthyosis	OMIM:215100
Congenital Myopathy 22A, Classic	Hip contracture, Achilles tendon contracture, Osteoporosis, Congenital finger flexion contractures	OMIM:620351
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash, Thrombocytopenia	OMIM:253270
Lowry-Maclean Syndrome	Osteopenia, Osteoporosis, Craniosynostosis	ORPHA:2409
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media	OMIM:300455
Combined Oxidative Phosphorylation Deficiency 54	Retrobulbar optic neuritis, Tachycardia, Optic disc pallor, Hyperglycemia	OMIM:619737
Neuraminidase Deficiency	Hepatomegaly, Cataract, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocyte...	OMIM:256550
Liver Failure, Infantile, Transient	Hepatomegaly, Death in infancy, Microvesicular hepatic steatosis, Jaundice, Hypoalbuminemia, Macr...	OMIM:613070
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Palmoplantar keratoderma	OMIM:616029
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Progeroid Short Stature With Pigmented Nevi	Cataract, Allergic rhinitis, Impaired T cell function, Recurrent viral infections, Lack of facial...	OMIM:176690
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Hennekam Syndrome	Recurrent respiratory infections, Epicanthus, Sparse axillary hair, Splenomegaly, Pulmonary lymph...	ORPHA:2136
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Cataract, Orchitis, Retrobulbar op...	ORPHA:117
Hereditary Chronic Pancreatitis	Leukocytosis, Recurrent pancreatitis	ORPHA:676
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Generalized lymphadenopathy, Iridoc...	OMIM:181000
Johanson-Blizzard Syndrome	Absent lacrimal punctum, Alopecia, Death in infancy, Abnormal hair pattern, Abnormality of the pa...	ORPHA:2315
Restrictive Dermopathy	Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl...	ORPHA:1662
Sunct Syndrome	Ptosis, Palpebral edema, Facial erythema, Conjunctival hyperemia, Flushing	ORPHA:57145
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Werner Syndrome	Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Skin ulcer	ORPHA:902
Xeroderma Pigmentosum, Complementation Group C	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectropion	OMIM:278720
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Recurrent respiratory infections, Osteoporosis, Small hand, Short foot, Hip dysplasia	ORPHA:398079
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li...	OMIM:147750
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Xeroderma Pigmentosum, Complementation Group A	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectropion	OMIM:278700
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry...	ORPHA:1028
Restrictive Dermopathy 1	Prominent superficial blood vessels, Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Abse...	OMIM:275210
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Recurrent fractures, Osteoporosis, Tibial bowing, Short foot, Slender long bone, O...	OMIM:601812
Prader-Willi Syndrome	Osteopenia, Recurrent respiratory infections, Syndactyly, Acromicria, Osteoporosis, Small hand, G...	OMIM:176270
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
B4Galt1-Cdg	Hepatomegaly, Inflammatory abnormality of the skin, Redundant neck skin, Elevated circulating cre...	ORPHA:79332
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impa...	OMIM:153670
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Osteoporosis, Joint hypermobility	OMIM:619718
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Pneumonia, Pustule, Subcutaneous nodule, Skin ulcer, Granuloma, Infectious encephaliti...	ORPHA:68
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo...	ORPHA:249
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo...	OMIM:614008
Colchicine Poisoning	Hyponatremia, Alopecia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphat...	ORPHA:31824
Plasminogen Deficiency, Type I	Decreased level of plasminogen, Recurrent upper respiratory tract infections, Conjunctivitis, Per...	OMIM:217090
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca	OMIM:617321
Melas	Erythema, Recurrent pancreatitis, Anemia, Hypertrichosis	ORPHA:550
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Recurrent respiratory infections, Perisylvian polymicrogyria, Osteoporosis, Small han...	ORPHA:98754
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Abetalipoproteinemia	Reticulocytosis, Decreased HDL cholesterol concentration, Hepatomegaly, Acanthocytosis, Cardiomeg...	ORPHA:14
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Plethora, Alopecia, Striae distensae, Acne, Dorsocervical fat pad, Bruising susceptibility, Hirsu...	ORPHA:189427
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Downslanted palpebral fissures, Decreased circulating IgA level	ORPHA:457485
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Frank-Ter Haar Syndrome	Osteopenia, Bowing of the long bones, Metatarsus adductus, Osteoporosis, Flared metaphysis, Hip d...	OMIM:249420
Macs Syndrome	Joint laxity, Osteoporosis, Joint hypermobility, Brachydactyly	OMIM:613075
Renpenning Syndrome	Abnormal hairshaft morphology, Epicanthus, Cataract, Alopecia, Upslanted palpebral fissure, Thin ...	ORPHA:3242
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Osteoporosis	OMIM:610489
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Cyanosis, Elevated circulating C-reactive protein concentration	ORPHA:1302
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Progeroid facial appearance, ...	ORPHA:90153
African Trypanosomiasis	Hepatomegaly, Pericarditis, Alopecia, Miscarriage, Keratitis, Myocarditis, Pruritus, Splenomegaly...	ORPHA:3385
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cataract, Hypokalemia, Hypocalcemia, Nail dysplasia, Hypomagnesemia, Nail dystrophy, An...	OMIM:175500
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Pruritus, Splenomegaly, Intrahepatic cholestasis, Conjugated hyperbilirubinemia, In...	OMIM:601847
Mednik Syndrome	Death in infancy, Cataract, Erythema, Cholestasis, Upslanted palpebral fissure, Death in childhoo...	OMIM:609313
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus	OMIM:606176
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Recurrent respiratory infections, Perisylvian polymicrogyria, Osteoporosis, Small han...	ORPHA:98793
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Trichotillomania	Alopecia	OMIM:613229
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Neutropenia	OMIM:618005
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Prader-Willi Syndrome	Osteopenia, Recurrent respiratory infections, Perisylvian polymicrogyria, Osteoporosis, Small han...	ORPHA:739
Cowden Syndrome 1	Cataract, Thyroiditis, Palmoplantar hyperkeratosis, Decreased circulating antibody level, Recurre...	OMIM:158350
Lipodystrophy, Familial Partial, Type 1	Hypertension, Insulin-resistant diabetes mellitus, Hyperglycemia	OMIM:608600
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets	OMIM:613388
Keutel Syndrome	Recurrent otitis media, Alopecia, Recurrent sinusitis	ORPHA:85202
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Recurrent respiratory infections, Perisylvian polymicrogyria, Osteoporosis, Small han...	ORPHA:177904
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Telangiectasia, Telangiectasia of the skin, Hepatomegaly	ORPHA:79279
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Sepsis, Abnormal intrahepatic bile duc...	ORPHA:480520
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Epicanthus, Elevated circulating creatine kinase concentration, ...	OMIM:611881
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Recurrent respiratory infections, Perisylvian polymicrogyria, Osteoporosis, Small han...	ORPHA:177901
Corneodermatoosseous Syndrome	Abnormal fingernail morphology, Thickened skin, Erythema, Palmoplantar keratoderma, Absent finger...	ORPHA:3194
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Skin rash, Hypercalcemia, Acanthocytosis, Pruritus, Intra...	ORPHA:97280
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Cutaneous sclerotic p...	ORPHA:90291
Lathosterolosis	Toe syndactyly, Increased mean platelet volume, Acanthocytosis, Postaxial hand polydactyly, Schis...	OMIM:607330
Gm1-Gangliosidosis, Type I	Hepatomegaly, Death in infancy, Splenomegaly, Vacuolated lymphocytes, Angiokeratoma corporis diff...	OMIM:230500
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Generalized joint laxity, Osteoporosis, Camptodactyly	ORPHA:432
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Acral ulceration	OMIM:256840
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Neutropenia	OMIM:615471
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Nail dystrophy, Alopecia, Bone marrow hypocellularity	OMIM:616353
Hajdu-Cheney Syndrome	Osteopenia, Recurrent respiratory infections, Brachydactyly, Bowing of the long bones, Recurrent ...	ORPHA:955
Giant Cell Arteritis	Arthritis, Pericarditis, Skin ulcer	ORPHA:397
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Scrub Typhus	Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Meningitis, Lymphadenopathy, Infectious e...	ORPHA:83317
American Trypanosomiasis	Hepatomegaly, Skin rash, Myocarditis, Splenomegaly, Lymphadenopathy, Pallor, Infectious encephalitis	ORPHA:3386
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Functioning Gonadotropic Adenoma	Osteopenia, Osteoporosis	ORPHA:91348
Kury-Isidor Syndrome	Alopecia, Hypertrichosis, Astigmatism, Recurrent otitis media, Downslanted palpebral fissures, Pt...	OMIM:619762
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Metaphyse...	ORPHA:536471
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Bronchiectasis,...	ORPHA:244
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Epicanthus, Sinusitis, Autoimmune hemolytic anemia, Dysgammaglobulin...	OMIM:251260
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Osteoporosis, Finger joint hypermobility	ORPHA:363705
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Epicanthus, Hyposegmentation of neutrophil nuclei, Cutis laxa, Fine hair, Thick eyebrow	OMIM:614800
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Long ha...	OMIM:309583
Fanconi Anemia, Complementation Group D2	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Leuk...	OMIM:227646
Costello Syndrome	Deep-set nails, Abnormal fingernail morphology, Redundant skin, Concave nail, Hypoplastic toenail...	ORPHA:3071
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Abnormality of complement system, Generalized h...	ORPHA:2348
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Prematurely aged appearance, Progeroid facial appearance, Abnormal hair morphology, Nai...	ORPHA:90154
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossificat...	OMIM:620099
Leigh Syndrome	Alopecia, Cataract, Eczema, Severe viral infection, Hypertrichosis, Neutropenia, Hyperalaninemia,...	ORPHA:506
Congenital Analbuminemia	Miscarriage, Hyperlipidemia, Increased alpha-globulin, Increased circulating antibody level, Hypo...	ORPHA:86816
Sympathetic Ophthalmia	Alopecia, Erythema, Posterior uveitis, Poliosis	ORPHA:79098
Satoyoshi Syndrome	Alopecia, Alopecia universalis	OMIM:600705
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Abnormality of thrombocytes, Thickened skin, Hyperkeratosis, Long eyela...	ORPHA:79430
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Glycosuria	OMIM:618857
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Brittle hair, Nail dystrophy	ORPHA:75389
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Recurrent respiratory infections, Flexion contracture, Osteoporosis, Small hand, Shor...	ORPHA:398069
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer	OMIM:245660
Bile Acid Synthesis Defect, Congenital, 1	Splenomegaly, Rickets	OMIM:607765
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Splenomegaly, Anemia, Increased cir...	ORPHA:77261
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Brachydactyly, Abnormal distal phalanx morphology of f...	ORPHA:2636
1Q41Q42 Microdeletion Syndrome	Upslanted palpebral fissure, Hyposegmentation of neutrophil nuclei, Abnormality iris morphology, ...	ORPHA:250999
Uremic Pruritus	Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Dry skin, Generalized ...	ORPHA:94059
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Recurrent upper respiratory tract infections...	OMIM:252920
Cystic Fibrosis	Osteopenia, Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkhol...	ORPHA:586
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Tenorio Syndrome	Telecanthus, Recurrent pneumonia, Keratoconjunctivitis sicca, Recurrent aphthous stomatitis, Thic...	OMIM:616260
Mccune-Albright Syndrome	Pancytopenia, Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Abnormal femur m...	ORPHA:562
Plague	Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Localized skin lesion, Splenomegaly, Ent...	ORPHA:707
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Atopic dermatitis,...	OMIM:115150
Dietary Iron Overload Disease	Osteoporosis	ORPHA:139507
Osteogenesis Imperfecta	Osteopenia, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Abnormal femur morpho...	ORPHA:666
Cranioectodermal Dysplasia 1	Joint laxity, Recurrent respiratory infections, Brachydactyly, Broad toe, Short humerus, Sagittal...	OMIM:218330
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Osteoporosis	ORPHA:2326
Schwartz-Jampel Syndrome	Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Bowing of the lon...	ORPHA:800
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Mildly elevated creatine kinase, Follicular hyperkeratosis	ORPHA:486815
Cartilage-Hair Hypoplasia	Neutropenia, Anemia, Decreased circulating antibody level	ORPHA:175
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Hypocalcemia, Anemia, Hypomagnesemia	OMIM:244460
Khan-Khan-Katsanis Syndrome	Lymphopenia, Anemia, Neutropenia	OMIM:618460
Myotonic Dystrophy 2	Elevated circulating creatine kinase concentration, Frontal balding, Posterior subcapsular catara...	OMIM:602668
Tumoral Calcinosis, Normophosphatemic, Familial	Calcinosis, Conjunctivitis	OMIM:610455
Crouzon Syndrome	Keratitis, Conjunctivitis, Shallow orbits	OMIM:123500
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail morphology	ORPHA:1005
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Redundant skin, Abnormal eyelash morphology, Low posterior hairl...	ORPHA:1340
Parkes Weber Syndrome	Prominent superficial blood vessels, Skin ulcer, Abnormal lymphatic vessel morphology, Scaling sk...	ORPHA:90307
Monosomy 18P	Webbed neck, Alopecia, Low posterior hairline	ORPHA:1598
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Iridocyclitis, Alopecia, Pancreatitis, Progeroid facial appearance	ORPHA:412057
Mandibuloacral Dysplasia	Alopecia, Increased subcutaneous truncal adipose tissue, Sparse hair, Thin skin, Acanthosis nigri...	ORPHA:2457
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe generalized osteoporosis, Hypoplastic pubic bone, Cone-shaped epiphyses o...	OMIM:210730
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Eczema, Dry skin, Abnormality of the nail	ORPHA:428
Angioedema, Hereditary, 1	Angioedema, Erythema	OMIM:106100
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Focal Dermal Hypoplasia	Alopecia, Telangiectasia of the skin, Erythema, Thin skin, Abnormality of the nail	ORPHA:2092
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormality of ...	ORPHA:85443
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu...	OMIM:259720
Pseudohypoparathyroidism Type 1A	Calcinosis, Cataract, Band keratopathy, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Abnormal...	ORPHA:79443
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Short lower limbs, Hypoplastic iliac wing, Avascular necrosis of the capital fe...	ORPHA:93315
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia	ORPHA:88630
Viss Syndrome	Chronic gastritis, Ptosis, Sparse scalp hair, Alopecia, Eczema, Prominent superficial blood vesse...	OMIM:619472
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu...	ORPHA:247691
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis	OMIM:609638
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Conjunctivitis, Lacrimal duct atresia, Lacrimal duct aplasia	OMIM:620192
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Recurrent ear infections, Absent e...	ORPHA:544488
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Del...	ORPHA:1652
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Aromatase Deficiency	Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Genu valgum	ORPHA:91
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Decreased adipose tissue around neck, Brittle hair, Prominent superficial veins, Proger...	OMIM:608612
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97282
Pediatric-Onset Graves Disease	Episcleritis, Hepatomegaly, Abnormal eyelid morphology, Keratitis, Splenomegaly, Jaundice, Neutro...	ORPHA:525731
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Hepatomegaly, Recurrent respiratory infections, Anhidrotic ectodermal dysplasi...	OMIM:612132
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Synophrys, Micronodular cirrhosis, Hepatosplenomegaly, ...	OMIM:606003
Alstrom Syndrome	Decreased HDL cholesterol concentration, Alopecia, Chronic active hepatitis, Hypertriglyceridemia...	OMIM:203800
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Doors Syndrome	Abnormal fingernail morphology, Low anterior hairline, Absent fingernail, Aspiration pneumonia, T...	ORPHA:79500
Fucosidosis	Hepatomegaly, Recurrent respiratory infections, Petechiae, Angiokeratoma, Cardiomegaly, Splenomeg...	OMIM:230000
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis	OMIM:612387
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Congenital Bile Acid Synthesis Defect Type 2	Extramedullary hematopoiesis, Rickets	ORPHA:79303
Eec Syndrome	Slow-growing hair, Keratitis, Sparse eyebrow, Nail pits, Fine hair, Inflammatory abnormality of t...	ORPHA:1896
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis, Elevated circulating creatine kinase concentration, Normochromic anemia, Cholel...	OMIM:618775
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Sepsis, Leukopenia, Lymphocytosis...	OMIM:619991
Inflammatory Pseudotumor Of The Liver	Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B virus antibody level,...	ORPHA:90003
Arboleda-Tham Syndrome	Recurrent respiratory infections, Epicanthus, Recurrent urinary tract infections, Lacrimal duct s...	OMIM:616268
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Osteoporosis, Foot acroosteolysis, Osteolytic defects of the phalanges ...	OMIM:102500
Johnson Neuroectodermal Syndrome	Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes	ORPHA:2316
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased susceptibility to ...	OMIM:259770
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Synophrys, Recurrent upper respiratory tract infections, Coarse hair,...	OMIM:252900
Okur-Chung Neurodevelopmental Syndrome	Epicanthus, Highly arched eyebrow, Synophrys, Decreased circulating IgA level, Decreased circulat...	OMIM:617062
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancreatitis, Prominent veins on trunk, Hyperur...	ORPHA:79083
Wilson Disease	Hemolytic anemia, Osteomalacia, Thrombocytopenia, Osteoarthritis, Splenomegaly, Osteoporosis, Ane...	OMIM:277900
Lymphatic Malformation 12	Hyperkeratosis	OMIM:620014
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess, Pneumonia, My...	ORPHA:544482
Occipital Horn Syndrome	Joint laxity, Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Osteoporo...	OMIM:304150
Simpson-Golabi-Behmel Syndrome	Splenomegaly, Increased circulating IgE level, Polysplenia	ORPHA:373
Menkes Disease	Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Se...	ORPHA:565
Pseudohypoparathyroidism Type 1B	Calcinosis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypoc...	ORPHA:94089
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Cohen Syndrome	Neutropenia	ORPHA:193
Distal Deletion 19P	Alopecia, Thick eyebrow, Decreased circulating antibody level	ORPHA:96129
Dubowitz Syndrome	Ptosis, Epicanthus, Telecanthus, Cataract, Eczema, Abnormality of neutrophils, Abnormal fingernai...	ORPHA:235
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Splenomegaly, Synophrys, Recurrent upper respiratory tract infections, Coarse hair,...	OMIM:252930
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lympha...	OMIM:602782
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:28378
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Recurr...	OMIM:225400
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Upper eye...	OMIM:167730
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia, Hypertriglyceridemia, Redundant skin, Bilateral ptosis, Prominent veins on trunk, Kerat...	ORPHA:536532
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Eczema, Decreased circulating total IgM, Annular pancreas, Bruising susceptibi...	OMIM:618162
Chanarin-Dorfman Syndrome	Hepatomegaly, Alopecia, Hepatic steatosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:275630
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Corneal opacity, Death in infancy, Elevated circulatin...	ORPHA:355
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Reynolds Syndrome	Hepatomegaly, Pruritus, Splenomegaly, Erythema nodosum, Jaundice, Biliary cirrhosis, Cholestasis,...	OMIM:613471
Whipple Disease	Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Myocarditis, Splenomegaly, Mediastinal lympha...	ORPHA:3452
Glass Syndrome	Arachnodactyly, Anterior tibial bowing, Generalized osteoporosis, Camptodactyly	OMIM:612313
Scleromyxedema	Aged leonine appearance, Elevated circulating creatine kinase concentration, Pruritus, Paraprotei...	ORPHA:167635
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Lymphedema-Distichiasis Syndrome	Ectropion, Yellow nails, Distichiasis, Conjunctivitis, Recurrent corneal erosions, Corneal ulcera...	OMIM:153400
Classic Homocystinuria	Arachnodactyly, Recurrent fractures, Joint stiffness, Osteoporosis, Genu valgum	ORPHA:394
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Death in infancy, Redundant neck skin, Thyroid lymphangiectasia, Splenomegaly, Panc...	OMIM:235255
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Erythema, Fine hair, Onycholysis, Nail dystr...	OMIM:614748
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Osteomyelitis, Acral ulceration	OMIM:256800
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Infant Botulism	Hyponatremia, Ptosis, Keratoconjunctivitis sicca, Chronic otitis media, Mydriasis	ORPHA:178478
Donohue Syndrome	Cholestasis, Hyperkeratosis, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Nail dysplasia,...	OMIM:246200
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Reduced bone mineral density, Hip contracture, Ankle flexion contracture, Knee flexion contracture	OMIM:620232
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Periorbital dermoid cyst, Conjunctivitis, Lacrimal duct stenosis	OMIM:615560
Noonan Syndrome 2	Curly hair, Sparse eyebrow, Low posterior hairline, Hyperkeratosis, Palmoplantar cutis laxa, Leuk...	OMIM:605275
Tbck-Related Intellectual Disability Syndrome	Broad toe, Osteoporosis, 2-3 toe syndactyly, Broad finger, Clinodactyly	ORPHA:488632
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration	OMIM:201300
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Bresek Syndrome	Alopecia, Ichthyosis	ORPHA:85284
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Bronchiectasis, Cholestasis, Upslanted p...	OMIM:620233
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo...	ORPHA:158687
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Cataract, Band keratopathy, Splenome...	ORPHA:191
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Niemann-Pick Disease, Type C2	Hepatomegaly, Death in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, De...	OMIM:607625
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis	OMIM:235555
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia	OMIM:604484
Tropical Endomyocardial Fibrosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Splenomegaly, Hypo...	ORPHA:75565
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ...	ORPHA:91416
Erythermalgia, Primary	Pruritus, Keratoconjunctivitis sicca	OMIM:133020
Cerebrotendinous Xanthomatosis	Osteoporosis	OMIM:213700
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Skin ulcer, Hepatospleno...	ORPHA:2072
Intellectual Developmental Disorder, Autosomal Dominant 54	Neutropenia	OMIM:617799
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Pseudohypoparathyroidism Type 1C	Calcinosis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypoc...	ORPHA:79444
Cockayne Syndrome Type 3	Hepatomegaly, Dry hair, Cataract, Splenomegaly, Microcornea, Premature graying of hair, Keratocon...	ORPHA:90324
Familial Renal Glucosuria	Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria	ORPHA:69076
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, Paronychia, A...	ORPHA:79404
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail	OMIM:181600
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Progeroid facial appearance, Ectopia lentis, Keratoconjuncti...	OMIM:616914
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia	ORPHA:90033
Niemann-Pick Disease, Type C1	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon...	OMIM:257220
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Contracture of the proximal interphalangeal joint of the 5th finger, Osteoporosis, Tr...	ORPHA:2232
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis, Pathologic fr...	ORPHA:77293
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Prolactinoma	Osteopenia, Osteoporosis	ORPHA:2965
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Myositis	ORPHA:764
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Prominent superficial veins, Prematurely aged appearance, Telan...	ORPHA:79474
Glycogen Storage Disease Ia	Osteoporosis, Gout	OMIM:232200
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Paroxysmal Hemicrania	Ptosis, Palpebral edema, Rhinitis, Conjunctival hyperemia, Flushing	ORPHA:157835
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentr...	ORPHA:565612
Pearson Syndrome	Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome...	ORPHA:699
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lymphadenopathy, Hyperprotei...	ORPHA:509
Short Syndrome	Telecanthus, Alopecia, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Excess...	ORPHA:3163
Oculocerebrorenal Syndrome Of Lowe	Cheilitis, Skin ulcer, Atypical scarring of skin, Arthritis, Anemia, Periodontitis, Chronic otiti...	ORPHA:534
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Rickets	ORPHA:2088
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Short thumb, Osteoporosis, Small hand, Short foot, Short palm	OMIM:268400
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Reduced bone mineral density, Coronal craniosynostosis, Orbital ...	OMIM:112240
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Thrombocytopenia, Leukocytosis, Peritonitis, Schistocytosis, Eleva...	ORPHA:90038
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Death in childhood, Hepatic br...	OMIM:618641
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome...	OMIM:251880
Gomez-Lopez-Hernandez Syndrome	Alopecia, Downslanted palpebral fissures, Opacification of the corneal stroma	OMIM:601853
Dpagt1-Cdg	Arachnodactyly, Flexion contracture, Osteoporosis, Camptodactyly, Clinodactyly, Anemia	ORPHA:86309
Osteootohepatoenteric Syndrome	Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Reduced bone mineral de...	OMIM:619377
Bartsocas-Papas Syndrome	Corneal opacity, Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Popliteal pterygium, Sp...	ORPHA:1234
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Neutropenia, Thrombocytopenia, Megaloblastic anemia	ORPHA:79282
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Death in infancy, Splenomegaly, Jaundice,...	OMIM:615512
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Small nail, Ichthyosis	ORPHA:166035
Cockayne Syndrome B	Splenomegaly, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of the...	OMIM:133540
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple	ORPHA:3224
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Eczema, Webbed neck, Hyperkeratosis, Loose anagen hair, Long eyela...	OMIM:607721
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Cataract, Telangiectasia of the skin, Keratoconjunctivitis sicca, Thick eyebrow, Ptosis	OMIM:616007
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Acute colitis, Lung abscess, Leukocytosis, Hypoalbuminemia, Constrictive pericardi...	ORPHA:67
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets	OMIM:612089
X-Linked Intellectual Disability, Snyder Type	Long toe, Arachnodactyly, Recurrent fractures, Osteoporosis, Slender toe, Camptodactyly	ORPHA:3063
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ...	OMIM:166220
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital hip dislocation, Arachnodactyly, Osteoporosis, Hip dislocation, Shoulder d...	ORPHA:536545
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Gapo Syndrome	Keratoconus, Hepatomegaly, Epicanthus, Alopecia, Sparse eyelashes, Redundant skin, Prominent scal...	OMIM:230740
Idiopathic Bronchiectasis	Acute infectious pneumonia, Recurrent lower respiratory tract infections, Bronchiectasis, Recurre...	ORPHA:60033
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Trichiasis, Hyperkeratosis, Ectodermal dysplasia, Nail dysplasia, Trichodysplasia...	OMIM:601701
Bartsocas-Papas Syndrome 1	Absent eyebrow, Ablepharon, Alopecia, Sparse scalp hair, Alopecia totalis, Cicatricial lagophthal...	OMIM:263650
Gaisböck Syndrome	Plethora, Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration...	ORPHA:90041
Cystinosis	Rickets	ORPHA:213
Wiedemann-Rautenstrauch Syndrome	Hypoplasia of the thymus, Absent eyebrow, Alopecia, Prematurely aged appearance, Absent eyelashes...	OMIM:264090
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Hyperlipoproteinemia, Type Id	Hyperlipoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia...	OMIM:615947
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Neutropenia	ORPHA:163956
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Redundant neck skin, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangi...	ORPHA:1655
Gapo Syndrome	Alopecia, Sparse eyelashes, Prematurely aged appearance, Sparse eyebrow, Early balding	ORPHA:2067
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia	OMIM:175700
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent respiratory infections, Abnormality of hair texture, Splenomegaly, Hypoph...	ORPHA:667
Monosomy 18Q	Epicanthus, Downslanted palpebral fissures, Low anterior hairline, Decreased circulating IgA level	ORPHA:1600
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Acne, Hirsutism	ORPHA:90795
Singleton-Merten Syndrome 1	Osteopenia, Recurrent respiratory infections, Hypoplastic distal radial epiphyses, Coxa valga, Os...	OMIM:182250
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Increased circulating antibody level, Elevated circulating creatine ...	OMIM:606002
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Congenital Disorder Of Deglycosylation 1	Short foot, Recurrent respiratory infections, Osteoporosis, Small hand	OMIM:615273
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Purpura, Myocarditis, Erythema...	ORPHA:466677
Encephalitis Lethargica	Increased circulating antibody level, Recurrent viral infections	ORPHA:83600
Wolf-Hirschhorn Syndrome	Recurrent respiratory infections, Hypoplastic pubic ramus, Arachnodactyly, Short hallux, Short th...	ORPHA:280
Gaucher Disease, Type Ii	Hepatomegaly, Death in infancy, Splenomegaly, Anemia, Bronchiolitis, Recurrent aspiration pneumon...	OMIM:230900
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Recurrent otitis media, Thrombocytopenia	OMIM:619525
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hypersplenism, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome...	ORPHA:228426
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Epicanthus, Eczema, Seborrheic dermatitis, Astigmatism, Downslanted palpebral fissures, Thick eye...	ORPHA:369950
Oculocerebrocutaneous Syndrome	Alopecia, Corneal opacity, Abnormal fingernail morphology, Eyelid coloboma, Iris coloboma, Ptosis	ORPHA:1647
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Epicanthus, Hypertriglyceridemia, Splenomegaly, Microvesicular he...	OMIM:619418
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Death in infancy, Seborrheic dermatitis, Microvesicular hepatic steatosis, Upslante...	OMIM:300868
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormal tibia morphology, Osteoporosis, Abnormal femur morphology, Abnormal finger m...	ORPHA:909
Mullerian Aplasia And Hyperandrogenism	Acne, Hirsutism	OMIM:158330
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine...	ORPHA:18
3-Methylglutaconic Aciduria, Type Viii	Neutropenia	OMIM:617248
Multiple Endocrine Neoplasia Type 4	Hypercalcemia, Insulinoma, Erythema, Thymoma, Extrahepatic cholestasis, Esophagitis, Abnormality ...	ORPHA:276152
Polycythemia Vera	Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Portal vein thrombosis, Acute leukemia...	ORPHA:729
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Toe syndactyly, Tapered finger, Osteoporosis, Recurrent infections, Lower-limb joint contracture,...	ORPHA:459070
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, A...	ORPHA:567983
Glycerol Kinase Deficiency	Pathologic fracture, Osteoporosis	OMIM:307030
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Upslanted palpebral fissure, Decreased circulating total IgM...	ORPHA:369837
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Vascular skin abnormality, Acrocyanosis, Generalize...	ORPHA:349
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Impaired myocardial contractility	ORPHA:681
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Epicanthus, Increased circulating thyroglobulin level, Portal hypertension, Pancrea...	OMIM:610199
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis	ORPHA:3130
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Os...	ORPHA:558
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Hypoplasia of eyelid, Leukocytosis, Azotemia, Hepatic steatosis	OMIM:619321
Short Syndrome	Rieger anomaly, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Hyp...	OMIM:269880
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ...	OMIM:608885
Hardikar Syndrome	Recurrent urinary tract infections, Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly...	OMIM:301068
Noonan Syndrome 10	Curly hair, Sparse eyebrow, Hyperkeratosis, Webbed neck, Palmoplantar cutis laxa	OMIM:616564
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema	OMIM:614653
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Autosomal Dominant Progressive External Ophthalmoplegia	Osteoporosis	ORPHA:254892
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Glycogen Storage Disease Ic	Cyclic neutropenia	OMIM:232240
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly	OMIM:610644
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Bruising susceptibility, Corneal scarring, Dry skin, Abnormali...	ORPHA:642
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Iron deficiency anemia, An...	ORPHA:79408
Woodhouse-Sakati Syndrome	Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Hypermobility of toe joints, Short toe, Enlargement of the distal femoral epiphysis, ...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Hypermobility of toe joints, Short toe, Enlargement of the distal femoral epiphysis, ...	ORPHA:99228
Monosomy X	Osteopenia, Hypermobility of toe joints, Short toe, Enlargement of the distal femoral epiphysis, ...	ORPHA:99226
Turner Syndrome	Osteopenia, Hypermobility of toe joints, Short toe, Enlargement of the distal femoral epiphysis, ...	ORPHA:881
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Osteoporosis, Reduced bone mineral density	ORPHA:168558
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia	OMIM:617107
Abdominal Obesity-Metabolic Syndrome 3	Hypertension, Hyperglycemia, Type II diabetes mellitus, Myocardial infarction	OMIM:615812
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Recurrent urinary tract infections, Pancytopenia, Rickets, Reduced bone...	OMIM:613658
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Osteoporosis, Reduced bone mineral density	ORPHA:289548
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia, Progeroid facial appearance	OMIM:617763
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Uveitis, Sparse hair, Sp...	ORPHA:2108
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Sponastrime Dysplasia	Neutropenia, Decreased circulating antibody level	ORPHA:93357
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis	ORPHA:2483
Fabry Disease	Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Hyperkeratosis, Arthritis...	ORPHA:324
Adrenoleukodystrophy	Alopecia	OMIM:300100
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Chronic neutropenia	ORPHA:500095
Cranioectodermal Dysplasia 2	Unilateral ptosis, Cholangitis, Ectodermal dysplasia, Sparse hair, Hepatomegaly, Sparse eyebrow, ...	OMIM:613610
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Zollinger-Ellison Syndrome	Jaundice, Erythema, Esophagitis	ORPHA:913
Isolated Biliary Atresia	Hepatomegaly, Pruritus, Conjugated hyperbilirubinemia, Splenomegaly, Atretic gallbladder, Jaundic...	ORPHA:30391
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus	OMIM:618223
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Ichthyosis	OMIM:163200
Frontonasal Dysplasia 2	Telecanthus, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Upslanted palpebral f...	OMIM:613451
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Zygomycosis	Brain abscess, Splenic abscess, Neutropenia	ORPHA:73263
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent respiratory infections, Epicanthus, Alopecia, Recurrent urinary tract infections, Eczem...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent respiratory infections, Epicanthus, Alopecia, Recurrent urinary tract infections, Eczem...	ORPHA:363958
Encephalocraniocutaneous Lipomatosis	Alopecia, Sclerocornea, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, Subcutaneous lipoma	OMIM:613001
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Leukemia, Thicken...	ORPHA:97685
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Premature skin wrinklin...	ORPHA:363618
Autosomal Recessive Robinow Syndrome	Recurrent respiratory infections, Epicanthus, Alopecia, Death in infancy, Upslanted palpebral fis...	ORPHA:1507
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Mandibuloacral Dysplasia With Type A Lipodystrophy	Reduced subcutaneous adipose tissue, Sparse scalp hair, Alopecia, Hepatomegaly, Acanthosis nigric...	OMIM:248370
Cysticercosis	Iridocyclitis, Infectious encephalitis, Increased circulating antibody level	ORPHA:1560
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Postaxial polyda...	OMIM:610168
Polyendocrine-Polyneuropathy Syndrome	Alopecia	ORPHA:453533
Orofaciodigital Syndrome Type 1	Epicanthus, Brittle hair, Telecanthus, Alopecia, Pancreatic cysts, Abnormality of the pancreas, C...	ORPHA:2750
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Tracheomalacia, Osteoporosis	OMIM:203700
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi...	ORPHA:284984
Lacrimoauriculodentodigital Syndrome	Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Hypoplasia of the l...	ORPHA:2363
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai...	OMIM:129900
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Osteoporosis, Reduced bone mineral density	ORPHA:90796
Aapoaiv Amyloidosis	Hyperlipidemia, Paraproteinemia, Elevated circulating creatinine concentration	ORPHA:439232
Glycogen Storage Disease Due To Acid Maltase Deficiency	Flexion contracture, Osteoporosis	ORPHA:365
Microphthalmia With Linear Skin Defects Syndrome	Corneal opacity, Abnormal nasolacrimal system morphology, Sclerocornea, Abnormal eyelid morpholog...	ORPHA:2556
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly	OMIM:231005
Ramon Syndrome	Angiokeratoma, Telangiectasia, Hyperkeratosis, Juvenile rheumatoid arthritis, Hypertrichosis	OMIM:266270
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Osteoporosis, Hip dysplasia, Anemia	ORPHA:438213
Ullrich Congenital Muscular Dystrophy 1	Follicular hyperkeratosis	OMIM:254090
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Laterally extended eyebrow, Synophrys, Low anterior hairline, Keratoconjunctivitis sicca, Long ey...	OMIM:618479
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Hyperparathyroidism-Jaw Tumor Syndrome	Osteoporosis	ORPHA:99880
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:769
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Ane Syndrome	Alopecia	ORPHA:157954
Parathyroid Carcinoma	Osteoporosis	ORPHA:143
Tsh-Secreting Pituitary Adenoma	Osteopenia, Osteoporosis	ORPHA:91347
Fanconi-Bickel Syndrome	Rickets, Osteomalacia	OMIM:227810
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Hypoglycemia	OMIM:615453
Aspartylglucosaminuria	Vacuolated lymphocytes, Neutropenia	OMIM:208400
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia	OMIM:600740
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Osteomyelitis leading to amputation due to slow healing fractures, Acral ulceration	OMIM:256810
Primrose Syndrome	Hip contracture, Joint hypermobility, Metatarsus adductus, Flexion contracture, Osteoporosis, Kne...	OMIM:259050
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Hypovolemia, Glycosuria, Hyperglycemia, Retinopathy	ORPHA:99885
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Sparse eyebrow, Synophrys, Low anterior hairline, Hirsutism, ...	ORPHA:495875
Kanzaki Disease	Telangiectasia of the oral mucosa, Lip telangiectasia, Angiokeratoma corporis diffusum, Hyperkera...	OMIM:609242
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis	OMIM:620189
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai...	OMIM:604292
Williams Syndrome	Osteopenia, Joint laxity, Increased bone mineral density, Recurrent urinary tract infections, Rec...	ORPHA:904
Pancreatic And Cerebellar Agenesis	Hyperglycemia, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia	OMIM:609069
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Epicanthus, Cataract, Sutural cataract, Highly arched eyebrow, Frontal balding, Synophrys, Nuclea...	OMIM:612474
Scalp-Ear-Nipple Syndrome	Epicanthus, Telecanthus, Cataract, Palpebral edema, Sparse axillary hair, Sparse pubic hair, Lowe...	OMIM:181270
Juvenile Xanthogranuloma	Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Blepharitis	ORPHA:158000
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Recurrent urinary tract infections, Hallux valgus, Down-sloping shoulde...	OMIM:194050
Lacrimoauriculodentodigital Syndrome 1	Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Hypoplasia of the lacrimal punct...	OMIM:149730
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Angiokeratoma ...	ORPHA:79280
Orofaciodigital Syndrome I	Epicanthus, Telecanthus, Dry hair, Alopecia, Pancreatic cysts, Hepatic fibrosis, Sparse hair, Dow...	OMIM:311200
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Conjunctival hyperemia, Highly arched eyebrow	OMIM:619121
46,Xy Partial Gonadal Dysgenesis	Osteoporosis	ORPHA:251510
Leprechaunism	Facial hypertrichosis, Hepatomegaly, Reduced subcutaneous adipose tissue, Thickened skin, Hyperke...	ORPHA:508
Baller-Gerold Syndrome	Epicanthus, Anomalous splenoportal venous system, Erythema, Astigmatism, Downslanted palpebral fi...	OMIM:218600
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis	OMIM:615510
Autosomal Dominant Robinow Syndrome	Epicanthus, Alopecia, Onychogryposis of fingernail, Curly eyelashes, Upslanted palpebral fissure,...	ORPHA:3107
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Rickets, Hip dislocation, Genu valgum, Finger swelling, Pa...	OMIM:309000
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypertension, Type II diabetes mellitus, H...	OMIM:151660
Cystinosis, Nephropathic	Splenomegaly, Metaphyseal widening, Rickets, Genu valgum, Hypophosphatemic rickets	OMIM:219800
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus	OMIM:615710
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia, Portal hypertension	ORPHA:440713
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections, Cyanosis, Pneumonia	ORPHA:99104
Adams-Oliver Syndrome 1	Alopecia, Cutis marmorata, Supernumerary nipple, Small nail	OMIM:100300
Dend Syndrome	Hyperglycemia	ORPHA:79134
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:618019
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypoglycemia, Hypertrophic cardiomyopathy, Recurrent hypoglycemia, Hyperglycemia, Rod-cone dystrophy	OMIM:124000
Encephalocraniocutaneous Lipomatosis	Alopecia, Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, A...	ORPHA:2396
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Alopecia totalis, Osteoarthritis, ...	ORPHA:740
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Conjunctival hyperemia	ORPHA:240071
Vascular Ehlers-Danlos Syndrome	Keratoconus, Dermal translucency, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Alopecia, R...	ORPHA:286
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Long fingers, Osteoporosis, Impaired neutr...	ORPHA:79318
Proteus Syndrome	Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Thickened skin, Abnormal subcutaneous f...	ORPHA:744
Linear Nevus Sebaceus Syndrome	Alopecia	ORPHA:2612
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections, Cyanosis, Pneumonia	ORPHA:99103
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Curly hair, Epicanthus, Absent gallbladder, Sparse eyebrow, Secretory IgA deficiency, Recurrent i...	ORPHA:500150
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Hyperkeratosis, Prolonged neonata...	OMIM:210710
Familial Hypocalciuric Hypercalcemia	Osteomalacia	ORPHA:405
Split Cord Malformation	Skin dimple, Penetrating foot ulcers	ORPHA:573278
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Bruising susceptibility, Follicular hyperkeratosis, Cutis laxa	OMIM:614557
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Epicanthus, Osteoarthritis, Cystocele, Keratoconjunctivitis sicca, Acrocyanosis, Ptosis	ORPHA:285
Steinert Myotonic Dystrophy	Alopecia, Bilateral ptosis, Posterior subcapsular cataract, Early balding, Astigmatism, Hyperchol...	ORPHA:273
Pseudoxanthoma Elasticum	Civatte bodies, Cutis laxa	OMIM:264800
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Red eye, Posterior synechiae of the anterior chamber	ORPHA:280921
Lambert-Eaton Myasthenic Syndrome	Keratoconjunctivitis sicca, Abnormality of the orbital region	ORPHA:43393
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at...	ORPHA:79102
6Q Terminal Deletion Syndrome	Hyperkeratosis, Low anterior hairline, Highly arched eyebrow	ORPHA:75857
Pyruvate Carboxylase Deficiency	Hyperglycemia, Hypoglycemia	ORPHA:3008
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick...	ORPHA:73223
Velocardiofacial Syndrome	Impaired T cell function	OMIM:192430
Generalized Arterial Calcification Of Infancy	Osteomalacia, Stippled calcification of the shoulder, Abnormal calcification of the carpal bones,...	ORPHA:51608
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Congestive heart failure, Hyperglycemia, Pulmonary arterial hypertension	ORPHA:444077
Cowden Syndrome	Palmoplantar keratoderma, Generalized hyperkeratosis, Mucosal telangiectasiae	ORPHA:201
Ring Chromosome 13 Syndrome	Alopecia, Epicanthus, Hypoplasia of the gallbladder	ORPHA:96176
Heart Defects, Congenital, And Other Congenital Anomalies	Hyperglycemia, Diabetes mellitus, Pulmonic stenosis, Glycosuria	OMIM:600001
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypoglycemia, Hypertension, Mitral regurgitation, Hyperglycemia, Hypertrophic cardiomyopathy	OMIM:220111
Pallister-Killian Syndrome	Sparse scalp hair, Telecanthus, Cataract, Sparse eyelashes, Epicanthus, Alopecia, Supernumerary n...	OMIM:601803
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyperglycemia	ORPHA:293987

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Itgb2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Itgb2.

No publications found that use IMPC mice or data for Itgb2.

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MGI Allele	Allele Type	Produced
Itgb2^{tm40494(L1L2_st1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Itgb2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Itgb2^em1(IMPC)Bay	Exon Deletion	Mice
Itgb2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Itgb2 MGI:96611

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

Eye Morphology

Eye Morphology

Human diseases caused by Itgb2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data