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Gene: Col17a1 MGI:88450

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Gene Summary

Name:
collagen, type XVII, alpha 1
Synonyms:
BPAg2,  Bpag2,  Bpag,  BP180

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating calcium level Col17a1em1(IMPC)Mbp HOM Early adult 3.72×10-08
decreased circulating serum albumin level Col17a1em1(IMPC)Mbp HOM Early adult 4.49×10-05
increased freezing behavior Col17a1em1(IMPC)Mbp HOM Early adult 5.71×10-05
abnormal skin morphology Col17a1em1(IMPC)Mbp HOM Early adult 0.00
hydrometra Col17a1em1(IMPC)Mbp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Col17a1 mutations

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

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

The table below shows human diseases associated to Col17a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intermediate Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Milia, Scarring alopecia of scalp, Atrophic scars, Growth delay, Sparse body hair... ORPHA:79402
Localized Junctional Epidermolysis Bullosa
Dystrophic fingernails, Nail dystrophy, Milia, Scarring alopecia of scalp, Dystrophic toenail, At... ORPHA:251393
Late-Onset Junctional Epidermolysis Bullosa
Localized skin lesion, Nail dystrophy, Anonychia ORPHA:79406
Epidermolysis Bullosa, Junctional 4, Intermediate
Dystrophic fingernails, Nail dystrophy, Macular hyperpigmented dermopathy, Scarring alopecia of s... OMIM:619787
Epithelial Recurrent Erosion Dystrophy
Keratoconjunctivitis sicca ORPHA:293381
Epithelial Recurrent Erosion Dystrophy
OMIM:122400

The table below shows human diseases predicted to be associated to Col17a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Iga Pemphigus
Neutrophilic infiltration of the skin, Increased circulating IgA level, Acantholysis, Monoclonal ... ORPHA:555905
Darier Disease
Hypermelanotic macule, Abnormal hair morphology, Abnormality of the nail, Thickened skin, Abnorma... ORPHA:218
Wells Syndrome
Skin vesicle, Eosinophilia ORPHA:901
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle, Increased circulating antibody level ORPHA:90000
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Localized skin lesion, Nail dystrophy, Milia, Small nail, Erythematous papule, Atrophic scars, At... ORPHA:79410
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Facial erythema, Pruritus on foot, Erythematous papule, Palmar pruritus, Eczematoi... ORPHA:64745
Dystrophic Epidermolysis Bullosa Pruriginosa
Nail dystrophy, Milia, Atrophic scars, Increased circulating IgE level, Hyperkeratosis, Papule, A... ORPHA:89843
Dowling-Degos Disease
Inguinal freckling, Hypermelanotic macule, Palmar pits, Progressive reticulate hyperpigmentation,... ORPHA:79145
Hypotrichosis 1
Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S... OMIM:605389
Hypotrichosis And Recurrent Skin Vesicles
Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla... OMIM:613102
Chilblain Lupus
Systemic lupus erythematosus, Skin ulcer, Increased circulating antibody level, Antiphospholipid ... ORPHA:90280
Hypotrichosis Simplex Of The Scalp
Slow-growing scalp hair, Scaling skin, Alopecia of scalp, Parakeratosis, Increased circulating Ig... ORPHA:90368
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Increased circulating IgE leve... OMIM:618282
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Cutaneous abscess, Pyoderma gangrenosum OMIM:619986
Generalized Eruptive Histiocytosis
Erythematous macule, Maculopapular exanthema, Erythematous papule, Pruritus, Spotty hyperpigmenta... ORPHA:157991
Peeling Skin Syndrome 1
Scaling skin, Nail dystrophy, Brittle hair, Increased circulating IgE level, Onycholysis, Erythro... OMIM:270300
Papular Xanthoma
Histiocytosis, Skin plaque, Eruptive xanthomas ORPHA:158008
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Dystrophic fingernails, Skin ulcer, Abnormal hair morphology, Skin vesicle,... ORPHA:2314
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Hyperpigmentation of the skin, Milia, Atrophic scars, Dystrophic toenail, Hypopigmen... ORPHA:89838
Acute Generalized Exanthematous Pustulosis
Scaling skin, Purpura, Cheilitis, Hyperpigmentation of the skin, Skin vesicle, Leukocytosis, Pred... ORPHA:293173
Proliferating Trichilemmal Cyst
Skin ulcer, Epidermoid cyst ORPHA:492
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Psoriasiform lesion, Increased circulating antibody... ORPHA:169154
Pyoderma Gangrenosum
Skin ulcer, Increased circulating antibody level, Atrophic scars, Papule, Skin vesicle, Myeloid l... ORPHA:48104
Porokeratosis Plantaris Palmaris Et Disseminata
Annular cutaneous lesion, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Porokeratosis, Skin... ORPHA:737
Pemphigus Foliaceus
Scaling skin, Acantholysis, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, P... ORPHA:79481
Netherton Syndrome
Parakeratosis, Brittle hair, Increased circulating IgE level, Sparse scalp hair, Chronic rhinitis... OMIM:256500
Familial Benign Chronic Pemphigus
Hyperkeratosis, Skin vesicle, Acantholysis, Skin erosion, Erythema ORPHA:2841
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Decreased lymphocyte apoptosis, Anti-smooth muscle antibody positivity, Petechiae, ... OMIM:603909
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Nail dystrophy, Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG ... ORPHA:98813
Immunodeficiency 25
Autoimmune hemolytic anemia, Anti-smooth muscle antibody positivity, Increased circulating IgG le... OMIM:610163
Classic Mycosis Fungoides
Irregular hyperpigmentation, Hypopigmented skin patches, Skin ulcer, Abnormality of the nail, Ski... ORPHA:2584
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Anti-smooth muscle antibody positi... OMIM:601859
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Diffuse palmoplantar hyperkeratosis, Dystrophic to... OMIM:617294
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... ORPHA:2722
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Growth delay, Sparse hair OMIM:246500
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Hyperpigmentation of the skin, Generalized hypopigmentation, Spotty hyperpigmentat... ORPHA:158681
Hypotrichosis 10
Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:614238
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating interleukin 6 concentration, Decreased proportion o... OMIM:618944
Necrobiosis Lipoidica
Skin ulcer, Indurated nodule, Atrophic scars, Abnormality of neutrophil physiology, Papule, Granu... ORPHA:542592
Lichen Planus Pemphigoides
Abnormality of the nail, Hyperkeratosis, Hypopigmented streaks, Blepharitis, Conjunctivitis, Skin... ORPHA:254478
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse axillary hair, Sparse hair, Fine ha... ORPHA:189
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Decreased circulating total IgM, Increased circulating IgE level, Atopic dermatitis, D... OMIM:617638
Diffuse Palmoplantar Keratoderma, Bothnian Type
Papule, Skin ulcer, Erythema ORPHA:2337
Omenn Syndrome
Pneumonia, Anemia, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis, Dry skin, Thickened... ORPHA:39041
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Anti-dsDNA antibody positivity, Autoimmune anti... ORPHA:90283
Mastocytosis, Cutaneous
Hypermelanotic macule, Cutaneous mastocytosis, Erythema OMIM:154800
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers, White papule, Palmar pruritus, Atopic de... ORPHA:498359
Insulin-Resistance Syndrome Type A
Generalized hyperpigmentation, Hyperkeratosis, Generalized hirsutism, Subcutaneous nodule ORPHA:2297
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Nail dystrophy, Milia, Hyperkeratosis, Mixed hypo- and hyperpigmentation o... ORPHA:79399
Netherton Syndrome
Irregular hyperpigmentation, Trichorrhexis nodosa, Ichthyosis, Acanthosis nigricans, Abnormal hai... ORPHA:634
Dissecting Cellulitis Of The Scalp
Recurrent skin infections, Pruritus, Subcutaneous nodule, Abnormal hair morphology ORPHA:345
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Deep dermatophytosis, Abnormal natural killer cell count, Abnormal prop... OMIM:212050
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi... ORPHA:277
Sweet Syndrome
Skin nodule, Pustule, Abnormality of tumor necrosis factor secretion, Increased circulating inter... ORPHA:3243
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, Decreased lympho... OMIM:614470
Immunodeficiency 15B
Chronic oral candidiasis, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, ... OMIM:615592
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Inflammation of th... OMIM:619281
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Premature ovarian insufficiency, Thin nail, Hyperkeratosis, Absent eyelashes, Abs... OMIM:618625
Ulerythema Ophryogenesis
Facial erythema, Contact dermatitis, Erythematous papule, Dry skin, Sparse lateral eyebrow, Acne,... ORPHA:3406
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Papule, Recurrent cutaneous fungal infections OMIM:244850
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Alopecia of scalp, Abnormal hair morphology, Hyperkeratosis, Anonychia, Ax... ORPHA:69125
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Eczematoid dermatitis, Bone marrow hypocellularity, Leukopen... OMIM:616871
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Pyoderma gangrenosum, Pneumonia, Acute myeloid leukemia, Recurrent aphthous stom... ORPHA:486
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Alopecia, Decreased FOXP3-expressing T cell count, Increased circulating IgE level, Arthr... OMIM:304790
Dermatitis Herpetiformis
Skin vesicle, Eczematoid dermatitis, Macule, Pruritus, Autoimmunity, Microcytic anemia, Erythema ORPHA:1656
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin, Histiocytosis, Papule ORPHA:157997
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Increased circulating IgG level, Herpes simplex encephalitis, Increased c... OMIM:618982
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis, Abnormal hair morphology OMIM:617756
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Patchy alopecia, S... OMIM:615387
Familial Reactive Perforating Collagenosis
Erythematous papule, Perifolliculitis, Inflammatory abnormality of the skin, Pruritus, Spotty hyp... ORPHA:79147
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating total IgM, Abnormal natural killer cell count,... ORPHA:331206
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis, Aplasia/Hypoplasia of the skin, Pruritus ORPHA:735
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Abnormal lym... OMIM:613953
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Anorexia, Chronic oral candidiasis, Pneumonia, Increased circulating antibody level, Decreased pr... ORPHA:169160
Acquired Ichthyosis
Ichthyosis, Hyperkeratosis, Dry skin, Papule, Recurrent skin infections, Pruritus, Palmoplantar k... ORPHA:454
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Scaling skin, Decreased specific anti-polysaccharide antibody level,... OMIM:606367
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Skin ulcer, B lymphocytopenia, Increased circulating IgE level, Recurrent b... ORPHA:217390
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgG level, Thyroiditis, Increased circulating ... OMIM:617388
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hypoplastic fingernail, Hyperconvex fingernails, Aplasia/Hypoplasia of the skin, Papule, Skin ves... ORPHA:257
Dermatofibrosarcoma Protuberans
Subcutaneous nodule, Skin ulcer, Erythema ORPHA:31112
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Moynahan Syndrome
Hyperkeratosis, Short stature, Hypogonadism, Sparse hair, Alopecia ORPHA:2574
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Juvenile Temporal Arteritis
Leukocytosis, Skin nodule, Conjunctivitis, Eosinophilia, Allergic rhinitis ORPHA:26137
Intermediate Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Milia, Scarring alopecia of scalp, Atrophic scars, Growth delay, Sparse body hair... ORPHA:79402
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Irritability, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Dry skin, Sparse body hair, S... ORPHA:3361
Palmoplantar Keratoderma, Epidermolytic, 1
Localized epidermolytic hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkerato... OMIM:144200
Ichthyosis-Prematurity Syndrome
Eosinophilia, Ichthyosis ORPHA:88621
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Angioma Serpiginosum, X-Linked
Hyperkeratosis, Nail dystrophy, Fine hair, Sparse hair OMIM:300652
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch... OMIM:618523
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased circulating total IgM, Recurrent otitis media, Sclerosing cholangitis, Increased circul... OMIM:243700
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Chronic mucocutaneous candidiasis, Cutaneous abscess, Atopic der... OMIM:619752
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Thickened skin, Eosinophilia, Arthritis, Lymphopenia ORPHA:2582
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti, Erythema, Follicular hyp... OMIM:607903
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of the esophagus, R... OMIM:620532
Kerion Celsi
Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... ORPHA:499
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Nail dystrophy, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly, Palmopl... OMIM:212360
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Patchy alopecia, Papule, Thickened skin, Skin erosion, Skin plaque, Aggressive be... OMIM:247100
Erythrokeratodermia Variabilis
Irregular hyperpigmentation, Hypermelanotic macule, Abnormal hair morphology, Abnormality of the ... ORPHA:317
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Acne inversa, Chronic furunculosis, Perifolliculitis OMIM:613737
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Ichthyosis Hystrix Of Curth-Macklin
Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Recurrent skin i... ORPHA:79503
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Pruritus OMIM:607685
Hyperkeratosis-Hyperpigmentation Syndrome
Irregular hyperpigmentation, Hyperkeratosis, Multiple cafe-au-lait spots, Papule ORPHA:1336
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat... OMIM:619632
Hypotrichosis 7
Brittle hair, Abnormality of the nail, Abnormal sweat gland morphology, Comedo, Sparse scalp hair... OMIM:604379
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin, Skin plaque ORPHA:464318
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Immunodeficiency 114, Folate-Responsive
Skin ulcer, Megaloblastic anemia, Increased circulating IgE level, Atopic dermatitis, Decreased c... OMIM:620603
Dyskeratosis Congenita
Premature graying of hair, Hypermelanotic macule, Nail dystrophy, Aplastic/hypoplastic toenail, M... ORPHA:1775
Immunodeficiency 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Re... OMIM:617585
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Palmoplantar erythema, Sparse eyebrow, Sparse hair, Pa... OMIM:104100
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Pruritus OMIM:146750
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Parana Hard Skin Syndrome
Thickened skin, Generalized hyperpigmentation, Hyperkeratosis, Generalized hirsutism ORPHA:2812
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Immunodeficiency 23
Erythema, Increased circulating IgG level, Increased circulating IgE level, Chronic mucocutaneous... OMIM:615816
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Nail dystrophy, Pruritus, Atrophic scars OMIM:131850
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Atrophic scars, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Sp... ORPHA:79133
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Decreased c... OMIM:300400
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE... OMIM:615767
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hyperkeratotic papule, Follicular hyperkeratosis, Hypomelanotic macule OMIM:615327
Ichthyosis, Hystrix-Like, With Deafness
Ichthyosis, Palmoplantar keratoderma, Scarring alopecia of scalp, Absent eyelashes, Hyperkeratosi... OMIM:602540
Hennekam-Beemer Syndrome
Irregular hyperpigmentation, Skin vesicle, Papule, Mastocytosis, Thickened skin, Abnormality of s... ORPHA:2135
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Chilblain Lupus 1
Abnormality of the nail, Skin ulcer, Antinuclear antibody positivity, Chilblains OMIM:610448
Incontinentia Pigmenti
Nail dysplasia, Nail dystrophy, Ridged nail, Sparse hair, Fine hair, Breast hypoplasia, Hyperkera... OMIM:308300
Tooth Agenesis, Selective, 8
Sparse eyebrow, Dry skin, Sparse hair OMIM:617073
Hidrotic Ectodermal Dysplasia, Halal Type
Nail dysplasia, Absent eyelashes, Multiple cafe-au-lait spots, Sparse scalp hair, Absent eyebrow,... ORPHA:1809
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Abnormality of the nail, Sparse scalp hair, Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Monilethrix
Perifollicular hyperkeratosis, Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair ... OMIM:158000
Congenital Panfollicular Nevus
Skin nodule, Verrucous papule, Hyperkeratosis ORPHA:139414
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent pneumonia, Thrombocy... OMIM:616576
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Ichthyosis, Palmoplantar keratoderma, Increased circulating IgE level, Acantholysis, Hypergranulo... OMIM:615508
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Melanocytic nevus, Alopecia uni... ORPHA:1008
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Silver-gray hair, Melanin pigment aggregation... OMIM:607624
Porphyria Variegata
Localized skin lesion, Anemia, Milia, Hyperpigmentation of the skin, Hypopigmentation of the skin... ORPHA:79473
Ichthyosis-Hypotrichosis Syndrome
Ichthyosis, Sparse hair ORPHA:91132
Lichen Planopilaris
Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Papule, Onycholysis, Abnormal fingernail ... ORPHA:525
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple... ORPHA:449400
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Papule, Long eyelashes, Pustule, Recurrent pneumonia OMIM:616069
Schopf-Schulz-Passarge Syndrome
Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Hyperkeratosis, Dry skin, Poroma... OMIM:224750
Immunodeficiency 32B
Anemia, Monocytopenia, Abnormal circulating IgG level, Sinusitis, Bronchiectasis, Neutrophilia, T... OMIM:226990
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Subacute Cutaneous Lupus Erythematosus
Cheilitis, Psoriasiform lesion, Antiphospholipid antibody positivity, Anti-dsDNA antibody positiv... ORPHA:163525
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Hirsutism, T lymphocytopenia, Cutis l... OMIM:617237
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis, Milia OMIM:131800
Ichthyosis With Erythrokeratoderma
Scaling skin, Leukonychia, Parakeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperker... OMIM:620507
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nail dystrophy, Splenomegaly, Psoriasiform dermatitis, Neutropenia, Thyroiditis, Pneumonia, Autoi... ORPHA:37042
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation, Hyperkeratosis, Papule ORPHA:315
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perioral erythema, Increased circulating IgE level, Perianal erythema, Blepharitis, Pustule, Eryt... OMIM:614328
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Onychogryposis of fingernail, Fingernail dysplasia, Severe short stat... ORPHA:2251
Monilethrix
Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Increased circulating IgM level, Lymphopenia, Monocytopenia, Monoc... ORPHA:2688
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse scalp hair, Dry skin, Eczematoid dermatitis, Sparse eyelashes, Blephari... OMIM:618535
Roifman Syndrome
Recurrent otitis media, Decreased circulating antibody level, Eczematoid dermatitis, Recurrent pn... ORPHA:353298
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia, Hyperpigmented streaks OMIM:614323
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Nail dystrophy, Onychogryposis of toenails, Abnormality of the nail, Abnormal hair morphology, Sp... ORPHA:1808
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis OMIM:617574
Hyperkeratosis Lenticularis Perstans
Skin ulcer, Aplasia/Hypoplasia of the skin, Papule ORPHA:409
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,... OMIM:613000
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Chronic otitis media, Skin ulcer, Anemia, Neutropenia, Arthritis, Ski... ORPHA:47
Bazex Syndrome
Scaling skin, Nail dystrophy, Yellow nails, Anemia, Lip hyperpigmentation, Parakeratosis, Acantho... ORPHA:166113
Keratoderma Hereditarium Mutilans With Ichthyosis
Nail dystrophy, Parakeratosis, Onychogryposis, Generalized ichthyosis, Hyperkeratosis, Scaling sk... ORPHA:79395
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Alopecia of scalp, Pneumonia, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia,... OMIM:602450
Eosinophilic Fasciitis
Myositis, Abnormal eosinophil morphology, Arthritis, Macule, Subcutaneous nodule, Eosinophilia, F... ORPHA:3165
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Diarrhea 13
Hypoalbuminemia OMIM:620357
Elastosis Perforans Serpiginosa
Annular cutaneous lesion, Erythematous papule, Skin-colored papule, Crusting erythematous dermati... ORPHA:79148
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Atrophoderma Vermiculata
Periauricular skin pits, Atrophic scars, Hypoplastic pilosebaceous units, Pruritus, Skin pit, Hyp... ORPHA:79100
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Hypermelanotic macule, Nail dystrophy, Milia, Alopecia, Mixed hypo- and hyperpigm... ORPHA:79397
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Palmoplantar keratoderma, Brittle hair, Absent eyelashes, Generalized keratosis f... ORPHA:2890
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... OMIM:615952
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Leukocytosis, Atopic dermatitis, Hypereosinophilia, Autoimmunity ORPHA:2902
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel... ORPHA:911
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse body hair, Abnormal toenail morphology, Melanocytic nevus, Ap... ORPHA:1818
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Isolated Agammaglobulinemia
Pneumonia, Skin ulcer, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnorma... ORPHA:229717
Ichthyosis, Congenital, Autosomal Recessive 14
Scaling skin, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous icht... OMIM:617571
Immunodeficiency 88
Eosinophilia OMIM:619630
Sting-Associated Vasculopathy, Infantile-Onset
Nail dystrophy, Anemia, Antiphospholipid antibody positivity, Increased circulating IgG level, Ma... OMIM:615934
Omenn Syndrome
Pneumonia, Anemia, B lymphocytopenia, Hypoplasia of the thymus, Thickened skin, Severe B lymphocy... OMIM:603554
Pseudoprogeria Syndrome
Absent eyelashes, Absent eyebrow, Growth delay, Thin skin, Sparse eyebrow, Short stature, Sparse ... ORPHA:2985
Aplasia Cutis Congenita
Skin ulcer, Aplasia cutis congenita over the scalp vertex, Congenital localized absence of skin, ... ORPHA:1114
Reticulate Acropigmentation Of Kitamura
Macule, Hyperkeratosis OMIM:615537
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Decreased circulating to... OMIM:102700
Dracunculiasis
Skin ulcer, Arthritis, Skin rash, Subcutaneous nodule, Recurrent cutaneous abscess formation, Pru... ORPHA:231
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Erythematous macule, Hep... OMIM:615559
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Eosinophilopenia
Autoimmunity, Allergic rhinitis, Decreased eosinophil count OMIM:131430
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Pustule, Recurrent skin in... ORPHA:346
Erosive Pustular Dermatosis Of The Scalp
Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Skin erosion, Erythema ORPHA:222
Mucoepithelial Dysplasia, Hereditary
Nail dysplasia, Nail dystrophy, Follicular hyperkeratosis, Chronic monilial nail infection, Chron... OMIM:158310
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Reticular Dysgenesis
Chronic otitis media, Skin ulcer, Anemia, Skin rash, Decreased circulating antibody level, Leukop... ORPHA:33355
Immunodeficiency 50
Eczematoid dermatitis, Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Short stature, Thick eyebrow, Sparse hair, Intrauterine growth retardation, Widow's peak OMIM:606242
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphocytosis, Thyroiditis, Skin rash, Interstitial pneumonitis, Tubulointerstitial ... ORPHA:139402
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Pityriasis Rubra Pilaris
Irregular hyperpigmentation, Ichthyosis, Palmoplantar keratoderma, Abnormality of the nail, Papul... ORPHA:2897
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Disabling Pansclerotic Morphea Of Childhood
Skin ulcer, Neutropenia, Lymphopenia OMIM:620443
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Systemic Lupus Erythematosus 17
Decreased circulating complement C3 concentration, Systemic lupus erythematosus, Myelitis, Malar ... OMIM:301080
Incontinentia Pigmenti
Irregular hyperpigmentation, Skin rash, Broad nail, Abnormal hair morphology, Abnormality of the ... ORPHA:464
Dermoodontodysplasia
Toenail dysplasia, Trichodysplasia, Sparse scalp hair, Dry skin, Thin skin, Sparse body hair, Mel... ORPHA:1660
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Abnormal hair morphology, Superficial dermal perivascular inflammatory infiltrate,... OMIM:618531
Keratoderma Hereditarium Mutilans
Ichthyosis, Abnormality of the nail, Hyperkeratosis, Papule, Abnormal toenail morphology, Honeyco... ORPHA:494
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Prolidase Deficiency
Skin ulcer, Hyperkeratosis, Hirsutism, Aplasia/Hypoplasia of the skin, Dry skin, Papule, White fo... ORPHA:742
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Mal De Meleda
Ichthyosis, Superficial dermal perivascular inflammatory infiltrate, Nonepidermolytic palmoplanta... ORPHA:87503
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Hyperkeratosis, Dry skin, Eczematoid dermatitis, Cutis laxa, Abnormality of skin pigm... OMIM:612379
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Oliver-Mcfarlane Syndrome
Delayed puberty, Long eyebrows, Long eyelashes, Severe short stature, Sparse hair, Hypogonadotrop... OMIM:275400
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Hereditary Folate Malabsorption
Anorexia, Cheilitis, Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Th... ORPHA:90045
Juvenile Hyaline Fibromatosis
Subcutaneous nodule, Skin ulcer, Aplasia/Hypoplasia of the skin, Papule ORPHA:2028
Cinca Syndrome
Anemia, Arthritis, Skin rash, Leukocytosis, Hepatosplenomegaly, Eosinophilia, Uveitis OMIM:607115
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Recurrent pneumonia, Membra... OMIM:619644
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Hemophagocytosis, Erythematous papule, Hepatosplenomegaly, Erythematous plaque ORPHA:86884
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Bathing Suit Ichthyosis
Scaling skin, Nail dystrophy, Parakeratosis, Ichthyosis, Thickened skin, Congenital nonbullous ic... ORPHA:100976
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, ... OMIM:616099
Ichthyosis, Annular Epidermolytic, 1
Scaling skin, Ichthyosis, Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Abnormali... OMIM:607602
Autoimmune Hypoparathyroidism
Irritability, Hypocalcemic seizures, Hypocalcemia, Depression, Hypocalcemic tetany, Hyperphosphat... ORPHA:36913
Roifman Syndrome
Recurrent otitis media, Eczematoid dermatitis, Recurrent pneumonia, Splenomegaly, Eosinophilia, P... OMIM:616651
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
2P21 Microdeletion Syndrome
Hypocalcemia, Hypogonadism ORPHA:163693
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Bazex-Dupré-Christol Syndrome
Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Milia, Sparse scalp hair, Sparse e... ORPHA:113
Lamellar Ichthyosis
Chronic otitis media, Ichthyosis, Abnormality of the nail, Hyperkeratosis, Dry skin, Lack of skin... ORPHA:313
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Leishmaniasis
Skin ulcer, Anemia, Increased circulating antibody level, Pancytopenia, Abnormal macrophage morph... ORPHA:507
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia, Thin eyebrow OMIM:618092
Eosinophilic Granulomatosis With Polyangiitis
Hypopigmented skin patches, Myocarditis, Purpura, Myositis, Arthritis, Skin rash, Papule, Sinusit... ORPHA:183
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Leukonychia, Nail dystrophy, Parakeratosis, Ichthyosis, Hyperkeratosis, Woolly hair, Fragile nail... OMIM:615821
Dermoodontodysplasia
Nail dysplasia, Thin skin, Trichodysplasia, Dry skin OMIM:125640
Prolidase Deficiency
Skin ulcer, Anemia, Increased circulating antibody level, Facial hirsutism, Petechiae, Low poster... OMIM:170100
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Adamantinoma
Hypercalcemia ORPHA:55881
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Abnormality of the nail, Hyperkeratosis, Curly hair, Sparse eyelas... OMIM:602400
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Petechiae, Ab... OMIM:619374
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Minimal change glomerulonephritis, Myositis, Increased circulating I... OMIM:620565
Olmsted Syndrome 2
Parakeratosis, Cheilitis, Perioral hyperkeratosis, Hyperkeratosis, Woolly hair, Sparse hair, Palm... OMIM:619208
Aspergillosis
Localized skin lesion, Increased circulating IgE level, Bronchiectasis, Sinusitis, Keratitis, Inf... ORPHA:1163
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Slow-growing hair, Dry skin, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair OMIM:129490
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Syndromic X-Linked Intellectual Disability 7
Short stature, Sparse body hair, Hypogonadism ORPHA:85274
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Leukocyte Adhesion Deficiency Type Ii
Recurrent otitis media, Anemia, Broad eyebrow, Severe periodontitis, Leukocytosis, Long eyelashes... ORPHA:99843
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia of scalp, Alopecia OMIM:260910
C1Q Deficiency 2
Facial erythema, Anemia, Recurrent otitis media, Decreased circulating C1q concentration, Malar r... OMIM:620321
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA level, Skin rash, N... OMIM:618048
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Psoriasis 14, Pustular
Nail dystrophy, Parakeratosis, Cholangitis, Leukocytosis, Pustule, Neutrophilia, Psoriasiform der... OMIM:614204
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Absent... OMIM:604536
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Scaling skin, Alopecia of scalp, Generalized hyperkeratosis, Absent pubic hair, Generalized ichth... ORPHA:2269
Idiopathic Trachyonychia
Nail dystrophy, Ichthyosis, Toenail dysplasia, Thin nail, Ridged nail, Abnormality of the periung... ORPHA:79153
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Nail dystrophy, Parakeratosis, Ichthyosis, Congenital ichthyosiform erythroderma,... OMIM:242300
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... OMIM:602032
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Crandall Syndrome
Brittle hair, Sparse body hair, Hypogonadism, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili ... ORPHA:202
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Acute Radiation Syndrome
Scaling skin, Skin ulcer, Hyperpigmentation of the skin, Hyperkeratosis, Hypopigmentation of the ... ORPHA:454831
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Congenital bullous ichthyosifor... ORPHA:312
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Eczematoid dermati... OMIM:619510
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Chylomicron Retention Disease
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Abnormal circulating creatine kinase concentration, Elevated haptoglobin level, ... OMIM:620632
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Pet... OMIM:301000
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Pyoderma ga... OMIM:150550
Bazex-Dupre-Christol Syndrome
Trichorrhexis nodosa, Milia, Hyperpigmentation of the skin, Trichoepithelioma, Atopic dermatitis,... OMIM:301845
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Skin nodule, Inflammatory abnormality of the skin, Antinuclear ant... ORPHA:90159
Acrokeratoelastoidosis Of Costa
Piezogenic pedal papules, Hypergranulosis, Yellow papule, Palmoplantar hyperkeratosis, Hyperkerat... ORPHA:38
Phenylketonuria
Hyperactivity, Generalized hypopigmentation, Dry skin, Compulsive behaviors, Eczematoid dermatiti... OMIM:261600
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Dystrophic fingernails, Nail dystrophy, Facial erythema, Scarring alopecia of scalp, Dry skin, Fo... OMIM:308800
Neonatal Lupus Erythematosus
Aplastic anemia, Parakeratosis, Anemia, Maculopapular exanthema, Pancytopenia, Malar rash, Skin r... ORPHA:398124
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia of scalp, Dermal atrophy, Alopecia OMIM:136300
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc... OMIM:618534
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Generalized ichthyosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, ... OMIM:615024
Eosinophilic Gastroenteritis
Anemia, Leukocytosis, Atopic dermatitis, Dysphagia, Eosinophilia, Allergic rhinitis ORPHA:2070
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Generalized hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis, Cobblestone-like hyperkerat... OMIM:620150
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis... OMIM:308230
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythema, Palmoplantar hyperker... OMIM:617526
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Acral Peeling Skin Syndrome
Scaling skin, Ichthyosis, Hyperpigmentation of the skin, Excessive wrinkling of palmar skin, Papu... ORPHA:263534
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Motor stereotypy, Paroxysmal bursts of laughter OMIM:618347
Olmsted Syndrome 1
Nail dysplasia, Nail dystrophy, Parakeratosis, Periorificial hyperkeratosis, Hyperparakeratosis, ... OMIM:614594
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess formation, Foll... OMIM:613736
Lipoid Proteinosis
Alopecia of scalp, Hyperkeratosis, Papule, Thickened skin, Pustule, Dysphagia, Subcutaneous nodul... ORPHA:530
Aplasia Cutis-Myopia Syndrome
Skin ulcer, Aplasia cutis congenita ORPHA:1117
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Thin skin, Purpura, Skin ulcer, Aplasia/Hypoplasia of the skin ORPHA:743
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Citrullinemia Type Ii
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Elevated plasma citr... ORPHA:247585
Esophagitis, Eosinophilic, 2
Esophagitis, Eosinophilia, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Esophagitis, Eosinophilia, Dysphagia OMIM:610247
Pseudohypoparathyroidism Type 1B
Irritability, Hypocalcemic seizures, Hypocalcemia, Depression, Hypocalcemic tetany, Hyperphosphat... ORPHA:94089
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Poikiloderma With Neutropenia
Nail dystrophy, Recurrent otitis media, Skin rash, Hyperkeratosis, Low posterior hairline, Sparse... OMIM:604173
Idiopathic Localized Lipodystrophy
Scaling skin, Morphea, Hyperpigmentation of the skin, Hypopigmentation of the skin, Inflammatory ... ORPHA:90158
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Hyperkeratosis, Sparse scalp hair, Melanocytic nevus, Fine hair, Freckling, Pili torti ORPHA:1573
Cole Disease
Abnormal hair morphology, Abnormality of the nail, Hypopigmented macule, Hyperkeratosis, Hypergra... OMIM:615522
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile abscess, Pancytopenia, Arthritis, Sterile arthritis, Cystic acne, Hepatosplenomegaly, Acn... OMIM:604416
Dermatitis, Atopic
Facial erythema, Ichthyosis, Dry skin, Atopic dermatitis, Eczematoid dermatitis, Allergic rhiniti... OMIM:603165
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Xq27.3Q28 Duplication Syndrome
Short stature, Sparse body hair, Intrauterine growth retardation, Hypogonadism ORPHA:261483
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Increased circulat... OMIM:619220
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Scaling skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkeratosis, Dry skin, Atopic de... ORPHA:530838
Immunodeficiency 102
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:301082
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Erythema nodosum, Agammaglobulinemia, Reduc... OMIM:615214
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Chronic Graft Versus Host Disease
Anorexia, Nail dystrophy, Skin ulcer, Morphea, Keratoconjunctivitis sicca, Intermittent generaliz... ORPHA:99921
Livedoid Vasculopathy
Skin ulcer, Anemia, Lupus anticoagulant, Pancytopenia, Hyperpigmentation of the skin, Erythematou... ORPHA:542643
Coccidioidomycosis
Indurated nodule, Skin rash, Papule, Granuloma, Pericarditis, Erythema nodosum, Skin plaque, Morb... ORPHA:228123
Schnitzler Syndrome
Anemia, Arthritis, Skin rash, Leukocytosis, Papule, Macule, Increased circulating IgM level, Sple... ORPHA:37748
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Petechiae, B Acute Lymphoblastic Leukemia, Thrombocyto... OMIM:616216
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Membranous nephropathy OMIM:618999
Vulvovaginal Gingival Syndrome
Parakeratosis, Ridged nail, Skin erosion, Pruritus, Abnormality of tumor necrosis factor secretio... ORPHA:83453
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Sézary Syndrome
Irregular hyperpigmentation, Nail dystrophy, Palmoplantar keratoderma, Abnormal immunoglobulin le... ORPHA:3162
Indolent Systemic Mastocytosis
Splenomegaly, Abnormal mast cell morphology, Increased proportion of CD25+ mast cells, Mastocytosis ORPHA:98848
Acrokeratosis Verruciformis Of Hopf
Leukonychia, Nail dystrophy, Hyperkeratosis, Skin-colored papule, Anonychia, Punctate palmoplanta... ORPHA:79151
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Olmsted Syndrome, X-Linked
Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis, Blepharitis, P... OMIM:300918
Coffin-Siris Syndrome 8
Hyperactivity, Sparse scalp hair, Long eyelashes, Eczematoid dermatitis, Thick eyebrow, Self-inju... OMIM:618362
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Thin skin, Abnormal fingernail morphology, Sparse body hair, Sparse hair ORPHA:1810
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Hypotrichosis 8
Coarse hair, Ridged nail, Comedo, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sp... OMIM:278150
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Polyphagia, Hypergonadotropic hypogonadism OMIM:606407
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Growth delay, Hypogonadism, Sparse hair, Alopecia ORPHA:3363
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair OMIM:234030
Papillon-Lefèvre Syndrome
Hypopigmented skin patches, Nail dystrophy, Liver abscess, Palmoplantar keratoderma, Severe perio... ORPHA:678
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibody level, Folliculit... OMIM:300635
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin... OMIM:619924
Chikungunya
Maculopapular exanthema, Petechiae, Arthritis, Skin rash, Synovitis, Macule, Enthesitis, Pruritus... ORPHA:324625
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Localized Junctional Epidermolysis Bullosa
Dystrophic fingernails, Nail dystrophy, Milia, Scarring alopecia of scalp, Dystrophic toenail, At... ORPHA:251393
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Abnormal fingernail morphology, Palmoplantar hyperkeratosis,... ORPHA:2199
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Sjögren-Larsson Syndrome
Ichthyosis, Inflammatory abnormality of the eye, Hyperkeratosis, Dry skin, Abnormality of retinal... ORPHA:816
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Scaling skin, Parakeratosis, Psoriasiform lesion, Intermittent generalized erythematous papular r... ORPHA:284426
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... OMIM:607271
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Increased LDL choles... OMIM:267700
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology... OMIM:614931
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis OMIM:618985
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Trichothiodystrophy 7, Nonphotosensitive
Ichthyosis, Brittle hair, Tiger tail banding, Congenital nonbullous ichthyosiform erythroderma, F... OMIM:618546
Immunodeficiency 27A
Anorexia, Anemia, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis, Rheuma... OMIM:209950
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Eosinophilia OMIM:253600
Focal Facial Dermal Dysplasia Type Iv
Nevus, Abnormal mast cell morphology ORPHA:398189
Fanconi Anemia, Complementation Group G
Anemia, Multiple cafe-au-lait spots, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Insulin Autoimmune Syndrome
Acanthosis nigricans, Increased circulating antibody level, Arthralgia/arthritis, Autoimmune anti... ORPHA:411593
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... ORPHA:238468
Focal Facial Dermal Dysplasia Type Iii
Hypopigmented skin patches, Highly arched eyebrow, Redundant skin, Aplasia/Hypoplasia of the skin... ORPHA:1807
Acrogeria
Thin skin, Skin ulcer, Excessive wrinkled skin, Aplasia/Hypoplasia of the skin ORPHA:2500
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Ichthyosis, Thick hair, Sclerosing cholangitis, Dry skin, Sparse eyelashes, Sparse... OMIM:607626
Trichothiodystrophy 1, Photosensitive
Trichorrhexis nodosa, Nail dystrophy, Keratoconjunctivitis sicca, Small nail, Brittle hair, Hyper... OMIM:601675
Ichthyosis, Congenital, Autosomal Recessive 6
Scaling skin, Parakeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Hyperkeratosis, Dr... OMIM:612281
Familial Keratoacanthoma
Subcutaneous nodule, Skin ulcer, Papule ORPHA:493
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Hypotrichosis 9
Abnormality of the nail, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Sparse... OMIM:614237
Pemphigus Erythematosus
Hypopigmented skin patches, Localized skin lesion, Malar rash, Antinuclear antibody positivity, S... ORPHA:79480
Ichthyosis Vulgaris
Ichthyosis, Dry skin, Eczematoid dermatitis OMIM:146700
Ichthyosis Prematurity Syndrome
Alopecia of scalp, Hyperpigmentation of the skin, Generalized ichthyosis, Allergic rhinitis, Eryt... OMIM:608649
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t... OMIM:618986
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Scaling skin, Leukonychia, Cheilitis, Hyperkeratosis, Dry skin, Angular cheilitis, Onycholysis, P... OMIM:616295
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Premature skin wrinkling, Short stature, Growth delay, Sparse hair ORPHA:631
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Sparse pubic hair, Sparse axillary hair, Primary amenorrhea, Hypogonadotropic hypogo... OMIM:146110
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Immunodeficiency 104
Recurrent otitis media, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, T lymphocytopen... OMIM:608971
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Nail dystrophy, Pneumonia, Atopic dermatitis, T lymphocytopenia, Abnormally low T cell receptor e... OMIM:618806
Vohwinkel Syndrome, Variant Form
Parakeratosis, Abnormal hair morphology, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, H... OMIM:604117
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, White scaling skin, Congenital nonbullous ichthyosiform ... OMIM:604777
Chronic Mucocutaneous Candidiasis
Cheilitis, Skin ulcer, Abnormality of the nail, Skin rash, Hyperkeratosis, Broad nail, Papule, Ab... ORPHA:1334
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Papa Syndrome
Skin ulcer, Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Pustule, ... ORPHA:69126
Aredyld
Generalized hypotrichosis OMIM:207780
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Low posterior hairline, Hypergonadotropic hypogonadism, Short stature, Sparse facial... ORPHA:2183
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating C-reactive pr... OMIM:616050
Progeroid Syndrome, Petty Type
Abnormal hair morphology, Abnormality of the nail, Brittle hair, Redundant skin, Long eyelashes i... ORPHA:2963
Proteus Syndrome
Nevus, Epidermal nevus, Hyperkeratosis, Splenomegaly, Depigmentation/hyperpigmentation of skin OMIM:176920
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Sparse hair, Follicular ... OMIM:613576
Trichothiodystrophy 9, Nonphotosensitive
Nail dystrophy, Ichthyosis, Tiger tail banding, Sparse eyebrow, Sparse hair OMIM:619692
Idiopathic Hypereosinophilic Syndrome
Papule, Skin nodule, Splenomegaly, Dysphagia, Cholangitis, Neutrophilia, Hepatosplenomegaly, Thro... ORPHA:3260
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Compulsive behaviors, Ne... OMIM:266265
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Hypogonadism, Hypocalcemic tetany OMIM:612462
Tularemia
Localized skin lesion, Pneumonia, Anemia, Increased circulating antibody level, Inflammatory abno... ORPHA:3392
Pachyonychia Congenita
Palmar hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma, Cutaneous cyst, Onychogryposis o... ORPHA:2309
Leopard Syndrome 3
Multiple lentigines, Numerous nevi, Hyperkeratosis, Dry skin, Low posterior hairline, Curly hair,... OMIM:613707
Late-Onset Isolated Acth Deficiency
Anorexia, Normocytic anemia, Macrocytic anemia, Dry skin, Hashimoto thyroiditis, Vitiligo, Eosino... ORPHA:199299
Ichthyosis, Congenital, Autosomal Recessive 2
Thin nail, Abnormal hair morphology, Small nail, Congenital ichthyosiform erythroderma, Hyperkera... OMIM:242100
Beta-Thalassemia
Skin ulcer, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Pallor, Microcytic anemia ORPHA:848
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Hypergonadotropic hypogonadism, Short stature, Growth delay, Sparse body hair,... ORPHA:2850
Dermatomyositis
Skin rash, Papule, Shawl sign, Pericarditis, Dysphagia, Palmar hyperkeratosis, Myocarditis, Abnor... ORPHA:221
Porphyria Cutanea Tarda, Type I
Eczematoid dermatitis, Addictive alcohol use, Hypertrichosis, Hyperpigmentation of the skin OMIM:176090
Chromomycosis
Hypopigmented skin patches, Verrucous papule, Keratoconjunctivitis sicca, Hyperparakeratosis, Ery... ORPHA:182
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Hyperkeratosis, Ichthyosis, Dry skin ORPHA:461
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Nail dystrophy, Ichthyosis, Parakeratosis, Linear arrays of macular hyperkeratoses in flexural ar... OMIM:601952
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Dysphagia, Elevated circulating alpha-fetopro... ORPHA:64753
Atelis Syndrome 1
Irregular hyperpigmentation, Anemia, Dry skin, Eczematoid dermatitis, Cafe-au-lait spot, Bronchie... OMIM:620184
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Herpes Simplex Virus Stromal Keratitis
Herpetiform vesicles ORPHA:137599
Fusariosis
Papule, Granuloma, Sinusitis, Skin detachment, Lymphopenia, Neutropenia, Pneumonia, Paronychia, O... ORPHA:228119
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Thin skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Intrauterine growth retardation, Skin ... ORPHA:261304
Immunodeficiency 22
Chronic oral candidiasis, Anemia, Decreased circulating IgE, Panniculitis, Autoimmunity, Decrease... OMIM:615758
Peeling Skin Syndrome 4
Scaling skin, Nail dystrophy, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:607936
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Dry skin, Eczematoid dermatitis, Bone marrow hypoce... OMIM:618116
Cyclic Neutropenia
Perianal abscess, Periodontitis, Lymphopenia, Tooth abscess, Sinusitis, Enterocolitis, Thrombocyt... ORPHA:2686
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Anorexia, Hypomagnesemia, Hypokalemia OMIM:175500
Igg4-Related Kidney Disease
Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Cholecystitis, Urinary bl... ORPHA:449395
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Griscelli Syndrome Type 2
Premature graying of hair, Hemophagocytosis, Hypopigmentation of hair, Pancytopenia, Petechiae, I... ORPHA:79477
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Nail dysplasia, Nail dystrophy, Facial erythema, Scarring alopecia of scalp, Folliculitis, Sparse... OMIM:612843
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Abnormal vagina morphology ORPHA:2123
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Irritability ORPHA:656
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Skin ulcer, Acral ulceration ORPHA:139578
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Hyperpigmentation of the skin, Rheumatoid arthritis, Pustul... ORPHA:48377
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... OMIM:613502
Mast Cell Sarcoma
Splenomegaly, Mastocytosis ORPHA:66661
Boutonneuse Fever
Petechiae, Increased circulating IgG level, Skin rash, Skin nodule, Macule, Increased circulating... ORPHA:83313
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Thrombocytopenia 1
Decreased mean platelet volume, Petechiae, Increased circulating IgE level, Increased circulating... OMIM:313900
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... OMIM:619707
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Hyperkeratosis, Short stature, Sparse hair, Coarse hair ORPHA:1883
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Recurrent loss of toenails and fingernails, Dystrophic fingernails, Milia, Dystrophic toenail, Th... ORPHA:158673
Heyn-Sproul-Jackson Syndrome
Intrauterine growth retardation, Severe short stature, Sparse hair OMIM:618724
Lead Poisoning
Abnormal T cell morphology, Anorexia, Anemia, Increased circulating IgE level, Skin rash, Tubuloi... ORPHA:330015
Kid Syndrome
Scaling skin, Nail dystrophy, Recurrent bacterial skin infections, Skin nodule, Sparse hair, Recu... ORPHA:477
Hypotrichosis 12
Sparse or absent eyelashes, Abnormal sweat gland morphology, Abnormality of the nail, Slow-growin... OMIM:615885
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Juvenile Arthritis
Skin rash, Thrombocytosis, Antinuclear antibody positivity, Leukocytosis OMIM:618795
Witkop Syndrome
Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ... OMIM:189500
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Lessel-Kubisch Syndrome
Premature graying of hair, Sparse pubic hair, Hypogonadism, Short stature OMIM:618681
Immunodeficiency By Defective Expression Of Mhc Class Ii
Panhypogammaglobulinemia, Sclerosing cholangitis, Skin rash, T lymphocytopenia, Sinusitis, Decrea... ORPHA:572
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma, Eosinophilia, Decreased circulating antibody level, Lymphopenia OMIM:617425
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Short stature, Sparse body hair, Sparse hair, Aplasia/Hypoplasia of ... ORPHA:1006
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Ichthyosis With Confetti
Scaling skin, Ichthyosis, Hypoplastic nipples, Congenital nonbullous ichthyosiform erythroderma, ... OMIM:609165
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Trichorrhexis nodosa, Nail dystrophy, Scarring alopecia of scalp, Eczematoid dermatitis, Sparse l... OMIM:617337
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Ollier Disease
Skin ulcer, Anemia, Subcutaneous nodule ORPHA:296
Peeling Skin Syndrome 6
Scaling skin, Parakeratosis, Dry skin, Atopic dermatitis, Orthokeratosis, Pruritus OMIM:618084
Trichodental Dysplasia
Slow-growing hair, Fine hair, Sparse hair, Brittle hair OMIM:601453
Odontoonychodermal Dysplasia
Nail dysplasia, Dystrophic fingernails, Thin nail, Ridged nail, Erythema, Palmoplantar hyperkerat... OMIM:257980
Pseudopelade Of Brocq
Cheilitis, Abnormal hair morphology, Abnormality of the nail, Sparse scalp hair, Papule, Aplasia/... ORPHA:129
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia, Cryptorchidism, Micropenis OMIM:241410
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Trichothiodystrophy 8, Nonphotosensitive
Trichorrhexis nodosa, Woolly hair, Eczematoid dermatitis, Cutis laxa, Sparse eyebrow, Sparse hair OMIM:619691
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia, Cryptorchidism OMIM:618183
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Erythrokeratodermia Variabilis Et Progressiva 3
Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis, Erythema OMIM:617525
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Skin ulcer, Skin fissure, Thickened skin, Abnormal fingernail morphology, Sparse hair, Palmoplant... ORPHA:659
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Acrokeratosis Verruciformis
Verrucous papule, Ridged nail, Hyperkeratosis, Acrokeratosis, Punctate palmoplantar hyperkeratosi... OMIM:101900
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... OMIM:242150
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Irritability, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Pemphigus Vulgaris
Alopecia of scalp, Anti-desmoglein-3 antibody positivity, Anti-desmoglein-1 antibody positivity, ... ORPHA:704
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Inc... ORPHA:508533
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Congenital Disorder Of Glycosylation, Type Im
Ichthyosis, Hyperkeratosis, Dry skin, Sparse eyelashes, Sparse eyebrow, Inflammatory abnormality ... OMIM:610768
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Elastoderma
Premature skin wrinkling, Papule, Eczematoid dermatitis, Cutis laxa, Skin nodule, Erysipelas ORPHA:228240
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Fulminant h... OMIM:308240
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Ichthyosis, Acanthosis nigricans, Scarring alopecia of scalp, Sparse scalp hair, Sparse eyelashes... ORPHA:59303
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Abnormal toenai... ORPHA:1433
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Neutropenia, Pyoderma, Enterov... OMIM:300755
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Hyperkeratosis, Cafe-au-l... OMIM:145250
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Ménétrier Disease
Anorexia, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Recurrent viral pneumonia, Ly... OMIM:619773
Reni Syndrome
Hypertriglyceridemia, Hypogonadism, Hypoalbuminemia, Cryptorchidism, Micropenis OMIM:617575
Nicolaides-Baraitser Syndrome
Excessive wrinkled skin, Curly eyelashes, Highly arched eyebrow, Long eyelashes, Eczematoid derma... ORPHA:3051
Cystic Echinococcosis
Localized skin lesion, Increased circulating antibody level, Splenic cyst, Peritoneal abscess, Eo... ORPHA:400
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Pancolitis, In... OMIM:618213
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Hypocalcemia, Hypoproteinemia, Abnormality of the uterus, Vag... ORPHA:1655
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Crohn's diseas... ORPHA:436159
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Cryptorchidism OMIM:608104
Gand Syndrome
Hyperactivity, Tics, Inappropriate laughter, Sparse hair OMIM:615074
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Nail dystrophy, Yellow nails, Onycholysis, Orthokeratotic hyperkeratosis, Streaks of hyperkeratos... OMIM:148700
Psoriasis 2
Scaling skin, Psoriasiform dermatitis, Parakeratosis, Hyperkeratosis OMIM:602723
Liver Failure, Infantile, Transient
Hypoalbuminemia, Irritability, Hyperbilirubinemia OMIM:613070
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Bone Marrow Failure Syndrome 3
Aplastic anemia, Nail dystrophy, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean cor... OMIM:617052
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Ichthyosis, Recurrent otitis media, Increased circulating IgG level,... OMIM:618495
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia, Aplasia of the uterus, Uterus didelphys, Vaginal atresia, Se... ORPHA:2237
Generalized Pustular Psoriasis
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Pressure-Induced Localized Lipoatrophy
Skin nodule, Inflammatory abnormality of the skin, Erythema ORPHA:90160
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Immunodeficiency 58
Scaling skin, Chronic otitis media, Seborrheic dermatitis, Decreased specific antibody response t... OMIM:618131
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Chronic Granulomatous Disease
Hypermelanotic macule, Liver abscess, Skin ulcer, Inflammatory abnormality of the eye, Eczematoid... ORPHA:379
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Bone marrow hypocellularity, Recurrent sinusitis, Leukopenia, Splenomegaly, Lymphopeni... OMIM:615688
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Agitation, Parakeratosis, Hyperkeratosis, Subcutaneous nodule, Self-injurious behavior OMIM:618339
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leukopenia, Extrame... OMIM:615285
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Absent lower eyelashes, Distichiasis, Sparse hair OMIM:227260
Acrodermatitis Enteropathica
Anorexia, Cheilitis, Skin ulcer, Ridged nail, Abnormality of the nail, Dry skin, Blepharitis, Abn... ORPHA:37
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,... ORPHA:98850
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... ORPHA:331235
Igg4-Related Submandibular Gland Disease
Prostatitis, Increased circulating antibody level, Cholangitis, Increased circulating IgG level, ... ORPHA:449432
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Irritability, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hyp... OMIM:603553
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Pneumonia, Abnormal immunoglobulin level, Decreased proportion of CD3-p... ORPHA:276
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Eczematoid dermatitis, Lack of skin elast... ORPHA:79254
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Eczematoid ... OMIM:269840
Schöpf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Noonan Syndrome 6
Multiple lentigines, Webbed neck, Long eyebrows, Low posterior hairline, Curly hair, Cafe-au-lait... OMIM:613224
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Skin ulcer, Abnormality of skin pigmentation, Dysphagia, Autoimmunity ORPHA:220402
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Decreased circulating antibody level, Aplasi... ORPHA:100
Variegate Porphyria, Childhood-Onset
Atopic dermatitis, Epidermal hyperkeratosis, Skin erosion, Milia OMIM:620483
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Eczematoid dermatit... OMIM:614493
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Panniculitis, Hypoplasia of the thymus, Leukopeni... OMIM:612541
Pachyonychia Congenita 2
Nail dysplasia, Nail dystrophy, Palmoplantar hyperkeratosis, Sparse scalp hair, Folliculitis, Ang... OMIM:167210
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer, Hyperkeratosis, Abnormality of skin pigmentation, Abnormal fingernail morphology, Spa... ORPHA:1806
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... ORPHA:275
Glycosylphosphatidylinositol Biosynthesis Defect 25
Short stature, Coarse hair, Sparse hair OMIM:619985
Ichthyosis, Annular Epidermolytic, 2
Scaling skin, Ichthyosis, Orthokeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, ... OMIM:620148
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Ifap Syndrome 2
Nail dystrophy, Ichthyosis follicularis, Perioral erythema, Atrichia, Angular cheilitis, Posterio... OMIM:619016
Brooke-Spiegler Syndrome
Skin nodule, Nodular changes affecting the eyelids, Skin ulcer, Skin-colored papule ORPHA:79493
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Hypercalcemia, Hypospadias, Micropenis OMIM:614732
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Peeling Skin Syndrome 5
Scaling skin, Hyperkeratosis OMIM:617115
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Scaling skin, Absent hair, Nail dystrophy, Facial erythema, Skin fissure, Trichorrhexis nodosa, R... ORPHA:1010
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Small nail, Brittle hair, Abnormality of ha... OMIM:234050
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin, Onycholysis, Abnormal fingernail morphology, Hypoplastic toenails, Fine... ORPHA:1028
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Secondary amenorrhea, Dry skin, Hypergonadotropic hypogonadism, Short stature, Sparse hair OMIM:268020
Hypotrichosis 13
Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology OMIM:615896
Hydroa Vacciniforme
Malar rash, Superficial dermal perivascular inflammatory infiltrate, Eczematoid dermatitis, Papul... ORPHA:330058
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Abnormal fingernail morphology ORPHA:1164
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Dry skin, Growth delay, Short stature, Sparse body hair, Alopecia ORPHA:177
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Pseudohypoparathyroidism Type 1C
Irritability, Calcinosis, Hypocalcemic seizures, Hypocalcemia, Depression, Polyphagia, Hypergonad... ORPHA:79444
Pityriasis Rubra Pilaris
Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Erythematous ... OMIM:173200
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Filippi Syndrome
Postnatal growth retardation, Frontal hirsutism, Sparse hair, Intrauterine growth retardation, Hy... OMIM:272440
Buerger Disease
Skin ulcer ORPHA:36258
Activated Pi3K-Delta Syndrome
Recurrent otitis media, B lymphocytopenia, Arthritis, Decreased circulating antibody level, Bronc... ORPHA:397596
Noonan Syndrome 8
Hyperpigmentation of the skin, Hyperkeratosis, Eczematoid dermatitis, Curly hair, Palmoplantar cu... OMIM:615355
Cholera
Irritability, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ... OMIM:618108
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Crohn's disease, Arthritis, Decreased circulating antibody level, Ps... OMIM:616100
Sabinas Brittle Hair Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair OMIM:211390
Hatipoglu Immunodeficiency Syndrome
Premature graying of hair, Recurrent otitis media, Anemia, Hyperpigmented/hypopigmented macules, ... OMIM:620331
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Autosomal Dominant Hypocalcemia
Hypocalcemia, Depression, Emotional lability, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Bullous Pemphigoid
Anti-BP230 antibody positivity, Eczematoid dermatitis, Macule, Anti-BP180 antibody positivity, Pr... ORPHA:703
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lupus anticoagulant, Skin rash, Antinuclear antibody positivity, Thrombocytopenia, Anterior uveit... OMIM:616744
Oculoskeletodental Syndrome
Hypocalcemia, Cryptorchidism, Hypercalcemia OMIM:618440
Pediatric Systemic Lupus Erythematosus
Decreased circulating complement C3 concentration, Systemic lupus erythematosus, Lupus anticoagul... ORPHA:93552
Igg4-Related Pachymeningitis
Pancreatitis, Parotitis, Lymphadenitis, Reduced circulating complement concentration, Sinusitis, ... ORPHA:449427
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Preauricular pit, Sacral dimple, Sparse hair OMIM:273390
Rapp-Hodgkin Syndrome
Nail dystrophy, Pili canaliculi, Decreased number of sweat glands, Small nail, Slow-growing hair,... OMIM:129400
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid factor positive, Papule, Rheumatoid arthritis, Inflammatory abnormality of the skin, P... ORPHA:79099
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Chronic oral candidiasis, Increased circulating IgE level, Skin rash, Chronic mucocutaneous candi... OMIM:147060
Lymphatic Filariasis
Circulating immune complexes, Hyperpigmentation of the skin, Knee osteoarthritis, Hyperkeratosis,... ORPHA:2035
Hypotrichosis 14
Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair OMIM:618275
Griscelli Syndrome
Premature graying of hair, Hypopigmented skin patches, Silver-gray hair, Abnormal eyelash morphol... ORPHA:381
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hemophagocytosis, Skin rash, Thrombocytopenia, Splenomegaly, Conjunctivitis, Neutropenia OMIM:603552
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Ichthyosis, Brittle hair, Increased circulating IgA level, Tiger tail bandi... OMIM:616395
Loeffler Endocarditis
Eosinophilia, Pericarditis ORPHA:75566
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Cardiofaciocutaneous Syndrome 4
Multiple lentigines, Alopecia of scalp, Curly hair, Cafe-au-lait spot, Sparse eyelashes, Absent e... OMIM:615280
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Aicardi-Goutieres Syndrome 5
Scaling skin, Increased circulating interferon-gamma concentration, Dry skin, Chilblains, Thrombo... OMIM:612952
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyperactivity, Synophrys, Curly hair, Hyposegmentation of neutrophil nuclei, Sparse eyebrow, Spar... OMIM:620075
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Hypocalcemia, Small scrotum, Cryptorchidism, Micropenis OMIM:607143
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Skin rash, Leukocytosis, Hepatosplenomegaly, Splenomegaly... OMIM:618963
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Catastrophic Antiphospholipid Syndrome
Abnormal circulating cytokine concentration, Systemic lupus erythematosus, Myocarditis, Skin ulce... ORPHA:464343
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Acrofacial Dysostosis, Palagonia Type
Aplasia/Hypoplasia of the skin, Sparse eyelashes, Sparse lateral eyebrow, Dermal atrophy, Short s... ORPHA:1787
Hypophosphatasia
Irritability, Hypercalcemia ORPHA:436
Cronkhite-Canada Syndrome
Anorexia, Aplasia/Hypoplasia of the eyebrow, Dystrophic fingernails, Anemia, Dystrophic toenail, ... ORPHA:2930
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Acquired Purpura Fulminans
Erythematous macule, Macular purpura, Macule, Thrombocytopenia, Pyoderma gangrenosum ORPHA:49566
Timothy Syndrome
Hypocalcemia OMIM:601005
Infantile Digital Fibromatosis
Skin nodule, Parakeratosis, Hyperkeratosis ORPHA:199267
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Stomatitis, Skin rash, Hyperkeratosis, Pustule, Neutrophilia, Splenomegaly, Abscess, Osteomyelitis OMIM:612852
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Eczematoid dermatitis, ... OMIM:617443
Neuroleptic Malignant Syndrome
Hyperkalemia, Agitation, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concen... ORPHA:94093
Reynolds Syndrome
Irregular hyperpigmentation, Skin ulcer, Keratoconjunctivitis sicca, Arthritis, Skin rash, Sclero... ORPHA:779
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Rothmund-Thomson Syndrome
Aplastic anemia, Nail dysplasia, Palmar hyperkeratosis, Anemia, Small nail, Abnormality of the na... ORPHA:2909
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
19Q13.11 Microdeletion Syndrome
Nail dysplasia, Sparse or absent eyelashes, Dry skin, Sparse lateral eyebrow, Thin skin, Growth d... ORPHA:217346
Q Fever
Increased circulating antibody level, Granuloma, Pericarditis, Splenomegaly, Cholecystitis, Anore... ORPHA:781
Lelis Syndrome
Nail dystrophy, Yellow nails, Acanthosis nigricans, Sparse lateral eyebrow, Abnormal toenail morp... ORPHA:140936
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Uremic Pruritus
Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia, Renal hypophosphatemia ORPHA:94059
Congenital Short Bowel Syndrome
Short stature, Sparse hair ORPHA:2301
Alveolar Echinococcosis
Liver abscess, Anemia, Increased circulating antibody level, Cholangitis, Abnormal spleen morphol... ORPHA:284
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Thin skin, Acantholysis, Erythema ORPHA:455
Even-Plus Syndrome
Highly arched eyebrow, Atopic dermatitis, Synophrys, Sparse hair, Aplasia cutis congenita OMIM:616854
Ramon Syndrome
Hyperkeratosis, Abnormality of retinal pigmentation, Generalized hirsutism ORPHA:3019
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Purpura, Anemia, Hemophagocytosis, Increased circula... ORPHA:540
Takayasu Arteritis
Anorexia, Skin ulcer, Anemia, Inflammatory abnormality of the eye, Arthritis, Subcutaneous nodule... ORPHA:3287
Ichthyosis, Congenital, Autosomal Recessive 8
Ichthyosis, Hyperkeratosis, Hypergranulosis, Orthokeratosis, Erythema OMIM:613943
Tooth Agenesis, Selective, 4
Dystrophic fingernails, Dystrophic toenail, Dry skin, Sparse scalp hair, Thin skin, Sparse body h... OMIM:150400
Gracile Bone Dysplasia
Hypocalcemia, Micropenis OMIM:602361
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Cryptorchidism, Hypoplasia of penis ORPHA:2323
Adult Syndrome
Breast hypoplasia, Skin ulcer, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, S... ORPHA:978
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis OMIM:133200
Cutaneous Small Vessel Vasculitis
Purpura, Skin rash, Papule, Subcutaneous nodule, Recurrent skin infections, Erythema ORPHA:889
Shukla-Vernon Syndrome
Impulsivity, Motor stereotypy, Sparse hair, Attention deficit hyperactivity disorder, Aggressive ... OMIM:301029
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Scaling skin, Ichthyosis, Hyperkeratosis, Dry skin, Congenital nonbullous ichthyosiform erythrode... OMIM:614457
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Congenital Ichthyosiform Erythroderma
Ichthyosis, Palmoplantar keratoderma, Abnormality of the nail, Keratitis, Erythroderma, Pruritus,... ORPHA:79394
Immunodeficiency 10
Autoimmune hemolytic anemia, Nail dysplasia, Increased circulating IgG3 level, Recurrent otitis m... OMIM:612783
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Premature graying of hair, Nail dystrophy, Anemia, Ridged nail, Increased mean c... OMIM:127550
Linear Verrucous Nevus Syndrome
Verrucous papule, Hyperkeratosis, Sparse scalp hair ORPHA:2611
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Periorbital wrinkles, Absent eyelashes, Hypoplastic nipples, Dry skin, Sparse scalp hair, Absent ... OMIM:614941
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Anemia, Excessive wrinkled skin, Abnormal leukocyte mo... ORPHA:3322
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Hyperkeratosis OMIM:136630
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Malar rash, Arthritis, Pericarditis, Nephritis, Antinuclear... OMIM:152700
Neutrophilic Dermatosis, Acute Febrile
Pyoderma gangrenosum, Increased circulating interleukin 6 concentration, Anemia, Panniculitis, Cy... OMIM:608068
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Rhabdoid Tumor
Irritability, Hypercalcemia ORPHA:69077
Familial Multiple Nevi Flammei
Hypermelanotic macule, Skin ulcer, Nevus flammeus, Papule ORPHA:624
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis, Fine hair, Sparse hair, Alopecia ORPHA:1839
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Optic neuritis, Leukopenia, Lymphopeni... ORPHA:289390
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Micropenis, Cryptorchidism OMIM:235255
Systemic Sclerosis
Irregular hyperpigmentation, Nail bed telangiectasia, Thickened skin, Pericarditis, Anti-topoisom... ORPHA:90291
Acquired Hypertrichosis Lanuginosa
Ichthyosis, Acanthosis nigricans, Hypopigmentation of hair, Thickened skin, Abnormal eyebrow morp... ORPHA:2221
Macrophage Activation Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... ORPHA:158061
Costello Syndrome
Acanthosis nigricans, Abnormal hair morphology, Redundant skin, Hyperkeratosis, Woolly hair, Deep... ORPHA:3071
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Hypopigmentation of hair, Silver-gray hair, Periodontitis, Ocular albin... OMIM:214500
Alopecia Universalis
Abnormality of the nail, Absent eyelashes, Patchy alopecia, Atopic dermatitis, Absent eyebrow, Vi... ORPHA:701
Wiskott-Aldrich Syndrome
Chronic otitis media, Abnormal platelet function, Sinusitis, Abnormal platelet morphology, Lympho... ORPHA:906
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Irritability, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Skin ulcer, Penetrating foot ulcers, Osteomyelitis ORPHA:36386
Harlequin Ichthyosis
Ichthyosis, Congenital ichthyosiform erythroderma, Hyperkeratosis, Erythroderma, Self-injurious b... ORPHA:457
Autoimmune Hepatitis
Anti-smooth muscle antibody positivity, Increased circulating antibody level, Anti-liver cytosoli... ORPHA:2137
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Attention deficit hyperactivity disorder, Ichthyosis, Hyperkeratosis ORPHA:281090
Adiposis Dolorosa
Arthritis, Dry skin, Sparse pubic hair, Recurrent skin infections, Subcutaneous nodule, Sparse ax... ORPHA:36397
Congenital Enterovirus Infection
Hyperammonemia, Irritability, Hypoalbuminemia ORPHA:292
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Mitochondrial Complex I Deficiency, Nuclear Type 33
Aspiration pneumonia, Dysphagia, Sparse hair, Bronchiectasis, Neutropenia OMIM:618253
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Bone marrow... ORPHA:3226
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Nail dysplasia, Trichiasis, Nail dystrophy, Ichthyosis, Absent pubic hair, Hyperkeratosis, Recurr... OMIM:148210
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Chronic mucocutaneous candidiasis, Di... OMIM:614868
Chronic Actinic Dermatitis
Hypopigmented skin patches, Late onset atopic dermatitis, Erythematous papule, Eczematoid dermati... ORPHA:330064
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Impaired platelet aggregation, Hypopigmentation of the skin, Abnormal n... OMIM:614072
Centrifugal Lipodystrophy
Scaling skin, Lymphadenitis, Inflammatory abnormality of the skin, Erythema, Alopecia ORPHA:90156
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased circulating carnitine concentration, Depression, Decreased circulating iron concentrati... ORPHA:89842
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Absence Of Fingerprints-Congenital Milia Syndrome
Thickened skin, Thin skin, Skin rash, Milia ORPHA:1658
Blepharocheilodontic Syndrome 1
Nail dysplasia, High anterior hairline, Small nail, Aplasia cutis congenita over the scalp vertex... OMIM:119580
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Menkes Disease
Brittle hair, Cutis laxa, Short stature, Sparse hair, Intrauterine growth retardation, Alopecia OMIM:309400
Meige Disease
Skin ulcer, Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Recurrent skin ... ORPHA:90186
Hawkinsinuria
Fine hair, Sparse hair ORPHA:2118
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Cardiofaciocutaneous Syndrome 2
Fine hair, Absent eyebrow, Sparse hair, Curly hair OMIM:615278
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Aplasia of the eccrine sweat glands, Increased circulating IgA level, Abnor... OMIM:300291
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Thickened skin, Iris hypopigm... ORPHA:79435
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Ecchymosi... ORPHA:88
Autosomal Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Conjunctivitis, Bronchiectasis, Recurrent ... ORPHA:33110
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Pancytopenia, Hyperkeratosis, Dry skin, Im... OMIM:614576
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Kikuchi-Fujimoto Disease
Lymphocytosis, Skin rash, Papule, Skin nodule, Macule, Pustule, Leukopenia, Splenomegaly, Skin pl... ORPHA:50918
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Juvenile Nephropathic Cystinosis
Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic... ORPHA:411634
Cortisone Reductase Deficiency 1
Acne, Hirsutism, Alopecia OMIM:604931
Dermatoosteolysis, Kirghizian Type
Dystrophic fingernails, Skin ulcer, Abnormality of the nail, Dystrophic toenail, Aplasia/Hypoplas... ORPHA:1657
Ichthyosis, Congenital, Autosomal Recessive 9
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hypergranulosis, ... OMIM:615023
Wolcott-Rallison Syndrome
Hyperammonemia, Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Microscopic Polyangiitis
Skin ulcer, Pancreatitis, Arthritis, Skin rash, Episcleritis, Sinusitis, Pericarditis, Subcutaneo... ORPHA:727
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Acanthosis nigricans, Red hair, Polyphagia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Acanthosis nigricans, Red hair, Polyphagia ORPHA:71526
Kindler Epidermolysis Bullosa
Cheilitis, Anemia, Milia, Periodontitis, Hyperkeratosis, Aplasia/Hypoplasia of the skin, Esophagi... ORPHA:2908
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei OMIM:260570
Pseudohypoparathyroidism Type 1A
Irritability, Calcinosis, Hypocalcemic seizures, Hypocalcemia, Depression, Polyphagia, Hypergonad... ORPHA:79443
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hemophagocytosis, ... OMIM:301078
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Inappropriate laughter OMIM:618476
Hermansky-Pudlak Syndrome
Anorexia, Hypopigmentation of hair, Ocular albinism, Hyperkeratosis, Hypopigmentation of the skin... ORPHA:79430
Flynn-Aird Syndrome
Skin ulcer, Dermal atrophy, Alopecia ORPHA:2047
Intellectual Developmental Disorder, Autosomal Recessive 5
Eczematoid dermatitis, Thick eyebrow, Sparse hair, Synophrys OMIM:611091
Anauxetic Dysplasia 2
Nail dysplasia, Small nail, Short stature, Sparse hair, Intrauterine growth retardation OMIM:617396
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Leukopenia, Splenomegaly, Recurrent skin infections, Lymphopenia... OMIM:620210
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Nail dystrophy, Palmoplantar keratoderma, Anemia, Onychogryposis, Hyperpigmentation of the skin, ... ORPHA:79396
Johnson Neuroectodermal Syndrome
Absent eyelashes, Multiple cafe-au-lait spots, Absent eyebrow, Severe short stature, Sparse hair,... ORPHA:2316
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Juvenile Dermatomyositis
Skin ulcer, Myositis, Arthritis, Skin rash, Dry skin, Pericarditis, Dysphagia, Pruritus, Autoimmu... ORPHA:93672
Hereditary Spherocytosis
Skin ulcer, Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentra... ORPHA:822
Igg4-Related Ophthalmic Disease
Prostatitis, Pancreatitis, Cholangitis, Thyroiditis, Increased circulating IgE level, Sinusitis, ... ORPHA:449563
Chromosome Xq27.3-Q28 Duplication Syndrome
Intrauterine growth retardation, Sparse body hair, Hypogonadism, Short stature OMIM:300869
Cushing Disease
Purpura, Skin ulcer, Acne, Decreased eosinophil count, Hyperpigmentation of the skin, Hirsutism, ... ORPHA:96253
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Skin rash, Systemic lupus erythematosus, Autoimmunity, Pallor ORPHA:90036
Sarcoidosis
Anemia, Keratoconjunctivitis sicca, Maculopapular exanthema, Hyperpigmentation of the skin, Parot... ORPHA:797
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Velocardiofacial Syndrome
Hypocalcemia, Cryptorchidism, Emotional lability, Aggressive behavior OMIM:192430
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc OMIM:617093
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Polyarteritis Nodosa
Subcutaneous nodule, Skin ulcer, Erythema ORPHA:767
Werner Syndrome
Premature graying of hair, Skin ulcer, Hyperkeratosis, Aplasia/Hypoplasia of the skin, Sparse sca... ORPHA:902
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Irritability, Micropenis, Self-mutilation OMIM:619487
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Brittle hair, Uncombable hair, Woolly hair, Sparse hair, Intrauterine growt... OMIM:614602
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Thrombocytopenia, Pruritus, Infe... ORPHA:448237
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Tiger tail banding, Short stature, Sparse eyebrow, Sparse hair, ... OMIM:300953
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Graft Versus Host Disease
Scaling skin, Fasciitis, Gastrointestinal inflammation, Hemophagocytosis, Inflammatory abnormalit... ORPHA:39812
Ectodermal Dysplasia/Short Stature Syndrome
Nail dystrophy, Hyperkeratosis, Dysphagia, Anonychia, Palmoplantar keratoderma OMIM:616029
Cardiofaciocutaneous Syndrome
Multiple lentigines, Dystrophic fingernails, Excessive wrinkled skin, Sparse or absent eyelashes,... ORPHA:1340
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hyperkeratosis, Hypopigmentation of the skin, Thickened skin, Iris hypo... ORPHA:79431
Nephronophthisis 9
Postnatal growth retardation, Polyuria, Nephronophthisis, Renal cortical microcysts, Stage 5 chro... OMIM:613824
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:36234
Vexas Syndrome
Nasal chondritis, Macrocytic anemia, Arteritis, Arthritis, Autoimmune antibody positivity, Thromb... OMIM:301054
Congenital Disorder Of Glycosylation, Type If
Scaling skin, Hyperkeratosis, Erythroderma, Dry skin OMIM:609180
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Arthritis, Skin rash, Leukocytosis, Splenomegaly, Erythema nodosum OMIM:611762
Hereditary Acrokeratotic Poikiloderma
Irregular hyperpigmentation, Hypopigmented skin patches, Nail dystrophy, Dystrophic fingernails, ... ORPHA:2907
Leprosy
Verrucous papule, Iritis, Loss of eyelashes, Acral ulceration, Hypopigmented macule, Hyperkeratos... ORPHA:548
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... OMIM:273250
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hyperactivity, Hypopigmentation of the skin, Polyphagia, Iris hypopigme... ORPHA:411515
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig... OMIM:608106
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Atrophic scars, Follicular hyperkeratosis ORPHA:300179
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Dermal atrophy, Alopecia ORPHA:69735
Leukocyte Adhesion Deficiency, Type Iii
Anemia, Petechiae, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Subcutaneous nodule, Recurrent... OMIM:612840
Mixed Connective Tissue Disease
Myocarditis, Purpura, Keratoconjunctivitis sicca, Gastritis, Myositis, Arthritis, Skin rash, Peri... ORPHA:809
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Broad eyebrow, Hyperkeratosis, Bronchiectasis,... OMIM:301220
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Membranoproliferative glom... OMIM:137940
Bullous Impetigo
Septic arthritis, Pustule, Recurrent bacterial skin infections, Erythema ORPHA:36237
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Multiple lentigines, Loose anagen hair, Ichthyosis, Hyperpigmentation of the skin, Hyperactivity,... OMIM:607721
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Nail dystrophy, Alopecia of scalp, Rectal abscess, Peritoneal absces... ORPHA:436252
Ichthyosis, Congenital, Autosomal Recessive 3
Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar kerato... OMIM:606545
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
Ectodermal Dysplasia-Skin Fragility Syndrome
Scaling skin, Nail dystrophy, Cheilitis, Recurrent pneumonia, Recurrent skin infections, Sparse h... ORPHA:158668
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Papule, Synovitis, Pustule, Inflammatory abnormality... ORPHA:77297
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Porokeratosis 3, Multiple Types
Nail dystrophy, Porokeratosis, Parakeratosis OMIM:175900
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short stature, Sparse body hair, Decreased fertility, Hypogonadism ORPHA:2234
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Dysphagia OMIM:617913
Cardiofaciocutaneous Syndrome 1
Multiple lentigines, Ichthyosis, Numerous nevi, Tongue thrusting, Hyperpigmentation of the skin, ... OMIM:115150
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Depression OMIM:212750
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Sparse eye... OMIM:250250
Naxos Disease
Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Woolly hair, Curly hair, Ony... OMIM:601214
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Brittle hair, Absent nipple, Dry skin, Sparse hair OMIM:614940
Epidermolytic Hyperkeratosis 1
Scaling skin, Congenital bullous ichthyosiform erythroderma, Erythroderma, Palmoplantar hyperkera... OMIM:113800
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Short stature, Sparse eyebrow, Sparse hair OMIM:619989
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg... ORPHA:35078
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Chronic gastri... ORPHA:183675
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Onychotrichodysplasia And Neutropenia
Trichorrhexis nodosa, Hypoplastic fingernail, Chronic irritative conjunctivitis, Curly eyelashes,... OMIM:258360
Beta-Thalassemia Intermedia
Skin ulcer, Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatospl... ORPHA:231222
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Periorbital hyperpigmentation, Brittle hair, Periorbital wrinkles, Absent eyelashes, Hypoplastic ... OMIM:305100
Holocarboxylase Synthetase Deficiency
Anorexia, Perioral eczema, Keratoconjunctivitis, Eczematoid dermatitis, Thrombocytopenia, Alopecia ORPHA:79242
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Osteomyelitis OMIM:615632
Fg Syndrome 3
Hyperactivity, Frontal upsweep of hair, Fine hair, Sparse hair OMIM:300406
Immunodeficiency 55
Ichthyosis, Dry skin, Eczematoid dermatitis, Lymphopenia, Recurrent skin infections, Absent natur... OMIM:617827
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Sparse eyelashes, Erysipelas, Sparse eyebrow, Alopecia OMIM:615704
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Abnormality of the nail, Absent eyelashes, Sparse scalp hair, Ab... OMIM:607823
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Polyphagia, Hypopigmentation of hair ORPHA:177910
Cryoglobulinemic Vasculitis
Purpura, Skin ulcer, Circulating immune complexes, Petechiae, Arthritis, Viral hepatitis, Cryoglo... ORPHA:91138
Free Sialic Acid Storage Disease
Skin ulcer, Splenomegaly ORPHA:834
Toxic Epidermal Necrolysis
Polydipsia, Skin ulcer, Anemia, Pancreatitis, Macule, Thrombocytopenia, Dysphagia, Conjunctivitis... ORPHA:537
Mucopolysaccharidosis-Plus Syndrome
Anemia, Hirsutism, Low posterior hairline, Long eyelashes, Synophrys, Bone marrow hypocellularity... OMIM:617303
Auriculocondylar Syndrome 2B
Postnatal growth retardation, Synophrys, Sparse hair, Preauricular skin tag OMIM:620458
Mu-Heavy Chain Disease
Increased circulating antibody level, Anemia, Splenomegaly, Abnormal B cell count ORPHA:100024
Chondrodysplasia Punctata, Autosomal Dominant
Coarse hair, Moderate postnatal growth retardation, Hyperkeratosis with erythema, Sparse hair OMIM:118650
Majeed Syndrome
Skin rash, Anemia of inadequate production, Hepatosplenomegaly, Inflammatory abnormality of the s... OMIM:609628
Ethylene Glycol Poisoning
Hypocalcemia, Euphoria, Hyperkalemia, Addictive alcohol use ORPHA:31826
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
2Q32Q33 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Fine hair, Sparse hair, Aggressive behavior ORPHA:251019
Cardiocranial Syndrome, Pfeiffer Type
Growth delay, Short stature, Sparse hair, Intrauterine growth retardation, Abnormal hair whorl ORPHA:2872
Adult Syndrome
Breast hypoplasia, Alopecia of scalp, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Dry ... OMIM:103285
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Skin... OMIM:617099
Familial Peripheral Male-Limited Precocious Puberty
Attention deficit hyperactivity disorder, Acne, Abnormal hair morphology ORPHA:3000
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Simple Cryoglobulinemia
Localized skin lesion, Purpura, Monoclonal elevation of IgG, Acral ulceration, Chronic lymphatic ... ORPHA:91139
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Increased circulating antibody level, Acanthosis nigricans, Panniculitis, Myositis, Arthr... OMIM:617591
Irida Syndrome
Hyperkeratosis, Pallor, Ichthyosis ORPHA:209981
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Crohn's disease, Acute pancreatitis, Lymphadenitis, Rheumatoid factor positive,... OMIM:618935
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Thrombocytopenia-Absent Radius Syndrome
Anemia, Seborrheic dermatitis, Decreased circulating antibody level, Leukocytosis, Thrombocytopen... OMIM:274000
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair OMIM:615279
Mycosis Fungoides
Erythema, Eczematoid dermatitis, Psoriasiform dermatitis, Skin plaque, Pruritus OMIM:254400
Darier-White Disease
Hypermelanotic macule, Palmar pits, Ridged nail, Acrokeratosis, Acantholysis, Plantar pits, Pruri... OMIM:124200
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hyperkeratosis, Abnormal toenail morphology, Severe short stature, Sparse hair, Intrauterine grow... ORPHA:1005
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Aplasia/Hypoplasia of the eyebrow, Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow,... ORPHA:3253
Chromosome 19Q13.11 Deletion Syndrome, Distal
Nail dysplasia, Postnatal growth retardation, Dry skin, Sparse eyelashes, Short stature, Aplasia ... OMIM:613026
Intellectual Developmental Disorder, Autosomal Dominant 54
Aggressive behavior, Thin nail, Dry skin, Eczematoid dermatitis, Sparse hair, Bruxism, Neutropenia OMIM:617799
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Nail dysplasia, Premature graying of hair, Nail dystrophy, Pancytopenia, White f... OMIM:613989
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Cutis Laxa, Autosomal Recessive, Type Iiib
Excessive wrinkled skin, Cutis laxa, Thin skin, Sparse hair, Intrauterine growth retardation, Fin... OMIM:614438
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Nail dysplasia, Facial erythema, Anemia, Sparse or absent eyelashes, Hyperpigmen... ORPHA:221008
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, De... ORPHA:100924
Hereditary Elliptocytosis
Skin ulcer, Reticulocytosis, Poikilocytosis, Elliptocytosis, Splenomegaly, Stomatocytosis, Congen... ORPHA:288
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Irritability OMIM:259720
Protoporphyria, Erythropoietic, 1
Pruritus, Erythema, Hemolytic anemia, Eczematoid dermatitis OMIM:177000
Autoinflammatory-Pancytopenia Syndrome
Hemophagocytosis, Intestinal inflammation, Pancytopenia, Chilblains, Granuloma, Hepatosplenomegal... OMIM:619858
Alg12-Cdg
Hypospadias, Hyponatremia, Hypoalbuminemia, Hypocholesterolemia, Cryptorchidism, Micropenis ORPHA:79324
Eem Syndrome
Sparse body hair, Sparse scalp hair, Absent eyebrow ORPHA:1897
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Hypoalbuminemia, Cryptorchidism OMIM:235510
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Intrauterine growth retardation, Sparse axillary hair, Short stature OMIM:608154
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Fixed Drug Eruption
Hyperpigmentation of the skin, Stomatitis, Skin detachment, Erythematous plaque, Skin erosion, Cr... ORPHA:293812
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Insulin-Resistance Syndrome Type B
Acanthosis nigricans, Increased circulating IgG level, Increased circulating IgA level, Hirsutism... ORPHA:2298
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Garg-Mishra Progeroid Syndrome
Postnatal growth retardation, Small nail, Cafe-au-lait spot, Short stature, Sparse hair OMIM:620601
Hypophosphatasia, Infantile
Anorexia, Irritability, Hypercalcemia, Elevated plasma pyrophosphate OMIM:241500
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Abnormal platelet aggregation, Thrombocytopenia, Leukopenia, Recurr... OMIM:614171
Intellectual Developmental Disorder, Autosomal Dominant 65
Compulsive behaviors, Low posterior hairline, Synophrys, Thin eyebrow, Sparse hair, Attention def... OMIM:619320
Granulomatosis With Polyangiitis
Chronic otitis media, Skin ulcer, Perinuclear antineutrophil antibody positivity, Episcleritis, S... OMIM:608710
Desbuquois Syndrome
Abnormal eyelash morphology, Disproportionate short-limb short stature, Severe short stature, Spa... ORPHA:1425
Obesity And Hypopigmentation
Red hair, Polyphagia OMIM:620195
Psoriasis-Related Juvenile Idiopathic Arthritis
Iritis, Psoriasiform lesion, Malar rash, Skin rash, Oligoarthritis, Onycholysis, Nail pits, Sacro... ORPHA:85436
Autosomal Erythropoietic Protoporphyria
Pruritus, Microcytic anemia, Erythema, Eczematoid dermatitis ORPHA:79278
Kaposi Sarcoma
Hypermelanotic macule, Skin rash, Papule, Skin nodule, Macule, Abnormality of the spleen, Skin pl... ORPHA:33276
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Hypocalciuric Hypercalcemia, Familial, Type Iii
Depression, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Recurrent otitis media, Increase... OMIM:619774
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Aggressive behavior, Dry skin, Long eyelashes, Eczematoid dermatitis, Elbow hypertrichosis, Pica OMIM:620191
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Immunodeficiency 66
Defective T cell proliferation, Pustule, Recurrent skin infections OMIM:618847
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Anti-smooth muscle antibody positivity, Anti-liver cytosolic antigen type 1 antibody positivity, ... ORPHA:562639
Agel Amyloidosis
Nail dystrophy, Keratoconjunctivitis sicca, Diffuse skin atrophy, Abnormal spleen morphology, Dry... ORPHA:85448
Eec Syndrome
Nail dystrophy, Nevus, Inflammatory abnormality of the eye, Slow-growing hair, Generalized hypopi... ORPHA:1896
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dysplasia, Brittle hair, Progressive hypotrichosis, Atopic dermatitis, Sparse eyelashes, Spa... OMIM:225060
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypogonadism, Hypocalcemic tetany OMIM:103580
Infantile Myofibromatosis
Irregular hyperpigmentation, Skin ulcer, Subcutaneous nodule, Abnormal hair morphology ORPHA:2591
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Hirsutism, Long eyelashes, Thick eyebrow, Low anterior hairline, Sparse hair OMIM:616819
Cutis Laxa, Autosomal Recessive, Type Iiia
Cutis laxa, Thin skin, Short stature, Sparse hair, Intrauterine growth retardation OMIM:219150
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Lymphatic Malformation 4
Hyperkeratosis, Toenail dysplasia OMIM:615907
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration, Dysphagia ORPHA:85443
Trichorhinophalangeal Syndrome, Type Iii
Sparse lateral eyebrow, Short stature, Sparse hair, Epidermal hyperkeratosis, Fine hair OMIM:190351
Donohue Syndrome
Nail dysplasia, Hypermelanotic macule, Acanthosis nigricans, Hyperkeratosis, Hypertrichosis OMIM:246200
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Ichthyosis, Acanthosis nigricans, Hyperkeratosis, Dry skin OMIM:618527
Autoinflammatory Disease, Systemic, X-Linked
Panniculitis, B lymphocytopenia, Complete or near-complete absence of specific antibody response ... OMIM:301081
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Nail dystrophy, Dry skin, Motor stereotypy OMIM:620502
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Igg4-Related Thyroid Disease
Hypocalcemia, Dysphagia ORPHA:64744
Leukocyte Adhesion Deficiency, Type I
Skin ulcer, Periodontitis, Rectal abscess, Chronic mucocutaneous candidiasis, Leukocytosis, Osteo... OMIM:116920
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Delayed puberty, Short stature, Growth delay, Sparse hair, Intrauterine growth retardation, Fine ... OMIM:616817
Adult-Onset Still Disease
Myocarditis, Anemia, Arthritis, Skin rash, Leukocytosis, Bone marrow hypocellularity, Pericarditi... ORPHA:829
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Chronic oral candidiasis, Recurrent otitis media, Periodontitis, ... OMIM:608233
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Hypergonadotropic hypogonadism OMIM:212065
Cutaneous Collagenous Vasculopathy
Erythema, Petechiae, Skin rash, Macule, Pruritus ORPHA:280779
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Skin rash, Abnormal lymphocyte morphology, Rheumatoid arthri... ORPHA:100026
Chromosome 2Q37 Deletion Syndrome
Highly arched eyebrow, Hyperactivity, Stereotypical hand wringing, Eczematoid dermatitis, Skin-pi... OMIM:600430
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Severe postnatal growth retardation, Synophrys, Proportionate short stature, Low... ORPHA:391408
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Familial Benign Copper Deficiency
Early balding, Anemia, Acne ORPHA:1551
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Dysphagia OMIM:254900
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypospadias, Hypergalactosemia, Increased circulating iron conce... OMIM:222470
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia, Hydrocele testis ORPHA:567546
Pneumocystosis
Chronic oral candidiasis, Increased circulating antibody level, Abnormal neutrophil count, Acute ... ORPHA:723
Hyper-Igd Syndrome
Chronic oral candidiasis, Arthritis, Increased circulating IgA level, Skin rash, Leukocytosis, Mo... OMIM:260920
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Palmoplantar keratoderma, Leukonychia, Hyperkeratotic papule, Palmoplantar hyperkeratosis ORPHA:2698
Trichinellosis
Conjunctivitis, Increased circulating IgE level, Dysphagia, Skin rash ORPHA:863
Letterer-Siwe Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Pallor, Neutropenia OMIM:246400
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia OMIM:618329
Mandibuloacral Dysplasia
Postnatal growth retardation, Hypoplastic fingernail, Thin skin, Sparse hair, Alopecia ORPHA:2457
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Hyperphosphatemia, Hypercalcemia OMIM:617994
Xeroderma Pigmentosum
Hypopigmented skin patches, Hypermelanotic macule, Hyperkeratosis, Dry skin, Thickened skin, Macu... ORPHA:910
Brucellosis
Cutaneous cyst, Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Anorexia, My... ORPHA:1304
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Postnatal growth retardation, Redundant neck skin, Excessive wrinkled skin, Thick hair, Redundant... ORPHA:357074
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Scaling skin, Leukonychia, Skin ulcer, Panniculitis, Abnormal hair morphology, Abnormal eyelash m... ORPHA:2526
Cranioectodermal Dysplasia
Abnormal fingernail morphology, Rhizomelia, Abnormal toenail morphology, Sparse hair ORPHA:1515
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Thickened skin, Iris hypopigmentatio... ORPHA:352731
Revesz Syndrome
Aplastic anemia, Nail dystrophy, Macrocytic anemia, Bone marrow hypocellularity, Nail pits, Ridge... OMIM:268130
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Abnormal spermatogenesis, Oligomenorrhea, Spa... OMIM:228300
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis OMIM:314000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... OMIM:617156
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Nail dysplasia, Facial erythema, Anemia, Sparse or absent eyelashes, Erythema, H... ORPHA:221016
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypogonadism, Hypoplastic nipples, Sparse hair, Small nail OMIM:273400
Milroy Disease
Erysipelas, Hyperkeratosis, Toenail dysplasia ORPHA:79452
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Hyperactivity, Polyphagia, Synophrys, Generalized hirsutism, Motor stereot... ORPHA:228402
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Familial Cold Autoinflammatory Syndrome 1
Arthritis, Skin rash, Leukocytosis, Conjunctivitis, Uveitis OMIM:120100
Adams-Oliver Syndrome
Hypoplastic fingernail, Aplastic/hypoplastic toenail, Aplasia/Hypoplasia of the skin, Absent fing... ORPHA:974
Pelger-Huet Anomaly
Recurrent otitis media, Giant platelets, Hyposegmentation of neutrophil nuclei, Eczematoid dermat... OMIM:169400
Hypomagnesemia 3, Renal
Polydipsia, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentratio... OMIM:248250
Macs Syndrome
Ichthyosis, Recurrent aphthous stomatitis, Redundant skin, Cutis laxa, Sparse eyebrow, Sparse hai... OMIM:613075
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Nail dystrophy, Skin rash, Hypopigmentation of the skin, Anterior uveitis, Acantholysis, Neutrope... ORPHA:95455
Nicolaides-Baraitser Syndrome
Ichthyosis, Excessive wrinkled skin, Premature skin wrinkling, Periorbital wrinkles, Sparse scalp... OMIM:601358
Systemic Lupus Erythematosus
Anorexia, Decreased circulating complement C3 concentration, Cheilitis, Lupus nephritis, Anti-U1 ... ORPHA:536
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Pachyonychia Congenita 1
Nail dystrophy, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, Onychogryposis OMIM:167200
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227990
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Nail dysplasia, Premature graying of hair, Nail dystrophy, Postnatal growth retardation, Short st... OMIM:612199
Chromosome 5P13 Duplication Syndrome
Compulsive behaviors, Low posterior hairline, Motor stereotypy, Sparse hair, Self-injurious behavior OMIM:613174
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis ORPHA:486815
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Hypocalcemia, Emotional lability, Polyphagia, Fixated interests, Atten... OMIM:620330
Immunodeficiency 12
Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Complete or near-complet... OMIM:615468
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Absent circul... OMIM:619693
American Trypanosomiasis
Myocarditis, Localized skin lesion, Skin rash, Autoimmune antibody positivity, Splenomegaly, Pall... ORPHA:3386
Arthrogryposis And Ectodermal Dysplasia
Nail dysplasia, Trichiasis, Hyperkeratosis, Dry skin, Absent eyebrow, Trichodysplasia, Atypical s... OMIM:601701
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Tongue thrusting, Hypopigmentation of the skin, Recurrent hand flapping... ORPHA:411511
Epidermodysplasia Verruciformis
Hypopigmented skin patches, Seborrheic dermatitis, Multiple cafe-au-lait spots, Papule, Pustule, ... ORPHA:302
Ebola Hemorrhagic Fever
Increased circulating antibody level, Acute pancreatitis, Thrombocytopenia, Leukopenia, Dysphagia... ORPHA:319218
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Skin rash, Abnormal platelet function, Hypopigmentation of the ski... ORPHA:167
Viss Syndrome
Increased circulating IgG level, Chronic gastritis, Increased circulating IgE level, Hirsutism, S... OMIM:619472
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Thickened skin, Iris hypopigmentation, Ab... ORPHA:79434
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
Dyskeratosis Congenita, Autosomal Recessive 6
Intrauterine growth retardation, Nail dystrophy, Sparse hair, Alopecia OMIM:616353
Palmoplantar Carcinoma, Multiple Self-Healing
Nail dystrophy, Parakeratosis, Chronic rhinitis, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:615225
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer ORPHA:424019
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Aplasia of the thymus, T lymphocytopenia, Eczematoid ... OMIM:242700
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Increased circulating antibody level, Recurrent sinusitis, Splenomegal... OMIM:256040
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Colitis OMIM:613148
Poems Syndrome
Leukonychia, Increased circulating antibody level, Hyperpigmentation of the skin, Thickened skin,... ORPHA:2905
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Eczematoid dermatitis, Sparse hair, Hyperconvex nail OMIM:619721
Blau Syndrome
Skin ulcer, Anemia, Ichthyosis, Hyperpigmentation of the skin, Skin rash, Posterior uveitis, Dry ... ORPHA:90340
Calciphylaxis
Skin ulcer ORPHA:280062
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hypocalcemia, Hyperbilirubinemia, Cryptorchidism, Micropenis ORPHA:163979
Gaucher Disease, Perinatal Lethal
Purpura, Ichthyosis, Anemia, Petechiae, Hyperkeratosis, Congenital nonbullous ichthyosiform eryth... OMIM:608013
Vici Syndrome
Hypopigmentation of hair, Ocular albinism, Chronic mucocutaneous candidiasis, Hypopigmentation of... OMIM:242840
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilirubinemia, Abnormal circul... ORPHA:14
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Hypospadias, Penoscrotal hypospadias, Hyperactivity, Bifid scrotum, Bicornua... OMIM:270400
Rodrigues Blindness
Short stature, Fine hair, Sparse hair OMIM:268320
Fanconi Anemia, Complementation Group S
Low anterior hairline, Anemia, Sparse hair, Long eyelashes OMIM:617883
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Synophrys, Motor stereotypy, Lymphopenia, Aggressive behavior ORPHA:391307
Dominant Beta-Thalassemia
Skin ulcer, Hypochromic microcytic anemia, Hyperpigmentation of the skin, Decreased mean corpuscu... ORPHA:231226
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Craniofacioskeletal Syndrome
Hypocalcemia, Cryptorchidism, Hypospadias OMIM:300712
Trichothiodystrophy
Numerous pigmented freckles, Ridged nail, Panhypogammaglobulinemia, Aplasia/Hypoplasia of the nai... ORPHA:33364
Braddock-Carey Syndrome 1
Thrombocytopenia, Sparse hair, Curly hair OMIM:619980
Noonan Syndrome 14
Dry skin, Low posterior hairline, Curly hair, Sparse eyebrow, Sparse hair, Lymphopenia OMIM:619745
Immunodeficiency 59 And Hypoglycemia
High anterior hairline, Recurrent aphthous stomatitis, Arteritis, Decreased proportion of class-s... OMIM:233600
Syndromic Diarrhea
Trichorrhexis nodosa, Gastritis, Hypopigmentation of hair, Brittle hair, Panhypogammaglobulinemia... ORPHA:84064
Chime Syndrome
Acute leukemia, Skin ulcer, Ichthyosis, Hyperkeratosis, Sparse hair, Fine hair, Erythema ORPHA:3474
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Breast hypoplasia, Increased female libido, Azoospermia, Hypoplasia of the ovary... ORPHA:432
Pachydermoperiostosis
Anemia, Abnormal hair quantity, Seborrheic dermatitis, Arthritis, Eczematoid dermatitis, Thickene... ORPHA:2796
C3 Glomerulopathy
Decreased circulating complement C3 concentration, C3 nephritic factor positivity, Paraproteinemi... ORPHA:329918
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Breast hypoplasia, Alopecia of scalp, Infertility, Impotence, Non-obstructive az... ORPHA:2232
Rat-Bite Fever
Scaling skin, Morbilliform rash, Myocarditis, Anemia, Pancreatitis, Arthritis, Skin rash, Parotit... ORPHA:31205
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Compulsive behaviors, Hypercalcemia, Motor stereotypy, Attention deficit hyperactivity disorder, ... ORPHA:476126
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Hyperparathyroidism, Neonatal Severe
Polydipsia, Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Autoerythrocyte Sensitization Syndrome
Obsessive-compulsive trait, Impaired platelet adhesion, Superficial dermal perivascular inflammat... ORPHA:324636
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227982
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Periorbital hyperpigmentation, Periorbital wrinkles, Sparse eyelashes, Sparse eyebrow, Sparse hair OMIM:224900
Granulomatosis With Polyangiitis
Chronic otitis media, Purpura, Skin ulcer, Pancreatitis, Prostatitis, Inflammatory abnormality of... ORPHA:900
Postinfectious Vasculitis
Anorexia, Palpable purpura, Gastrointestinal inflammation, Increased circulating antibody level, ... ORPHA:48435
Immunoglobulin A Vasculitis
Anorexia, Purpura, Skin ulcer, Arthritis, Skin rash, Episcleritis, Macule, Pustule, Orchitis, Inf... ORPHA:761
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Sparse hair, Growth delay OMIM:610756
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Colitis, Hypopigmentation of the skin, Inflammation of the large intest... OMIM:203300
Scleromyxedema
Skin-colored papule, Papule, Paraproteinemia, Thickened skin, Sclerodactyly, Dysphagia, Pruritus ORPHA:167635
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Mycetoma
Cutaneous cyst, Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Subcutaneou... ORPHA:2583
Hypocomplementemic Urticarial Vasculitis
Irregular hyperpigmentation, Inflammatory abnormality of the eye, Arthritis, Skin rash, Reduced c... ORPHA:36412
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Dysphagia, Hypopigmentation of hair ORPHA:70472
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia, Small scrotum, Unconjugated hyperbilirubinemia OMIM:613658
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Epidermal nevus, Small nail, Hyperkeratosis, Congenital ichthyosiform erythroderma... OMIM:308050
Insensitivity To Pain, Congenital, With Anhidrosis
Nail dysplasia, Nail dystrophy, Acral ulceration, Hyperactivity, Sparse scalp hair, Keratitis, Se... OMIM:256800
Bloom Syndrome
Cheilitis, Decreased circulating total IgM, Acute myeloid leukemia, Abnormal proportion of CD8-po... ORPHA:125
Immunodeficiency 68
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Septic a... OMIM:612260
Monosomy 22
Hypochromic microcytic anemia, Seborrheic dermatitis, Synophrys, Thickened skin, Hepatosplenomega... ORPHA:96123
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, Panniculitis, B lymphocytopenia, Reticulocytopenia, Dry skin, Eczematoid dermatitis, Bone... ORPHA:508542
Xp22.13P22.2 Duplication Syndrome
Attention deficit hyperactivity disorder, High anterior hairline, Sparse hair ORPHA:284180
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Premature Aging Syndrome, Penttinen Type
Hyperkeratosis, Skin nodule, Thin skin, Thickened skin, Sparse hair, Palmoplantar hyperkeratosis,... OMIM:601812
Malakoplakia
Skin ulcer, Skin rash, Papule, Inflammatory abnormality of the skin, Orchitis, Subcutaneous nodul... ORPHA:556
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Red hair, Hyperactivity, Fair hair OMIM:614613
Blue Rubber Bleb Nevus
Skin rash, Microcytic anemia, Subcutaneous nodule ORPHA:1059
Pearson Syndrome
Hypokalemia, Hypocalcemia, Hyperalaninemia, Hypomagnesemia, Hypophosphatemia, Dysphagia ORPHA:699
Chondrodysplasia Punctata 2, X-Linked Dominant
Congenital ichthyosiform erythroderma, Patchy alopecia, Sparse eyelashes, Sparse eyebrow, Congeni... OMIM:302960
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysphagia, Sparse hair OMIM:620001
Reactive Arthritis
Dystrophic fingernails, Recurrent aphthous stomatitis, Abnormality of the nail, Arthritis, Hyperk... ORPHA:29207
Neonatal Inflammatory Skin And Bowel Disease
Slow-growing scalp hair, Scaling skin, Chronic monilial nail infection, Recurrent bacterial skin ... ORPHA:294023
Autoinflammatory Disease, Systemic, With Vasculitis
Increased T cell count, Anti-Sm antibody positivity, Splenomegaly, Increased circulating interleu... OMIM:620376
Brittle Cornea Syndrome 1
Atypical scarring of skin, Palmoplantar cutis laxa, Red hair, Molluscoid pseudotumors OMIM:229200
Tetrasomy 12P
Short stature, Sparse eyebrow, Sparse hair ORPHA:884
Gitelman Syndrome
Polydipsia, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Salt craving ORPHA:358
Borjeson-Forssman-Lehmann Syndrome
Short stature, Hypogonadism, Thick eyebrow, Sparse hair ORPHA:127
Ruijs-Aalfs Syndrome
Premature graying of hair, Hypogonadism, Sparse hair, Short stature OMIM:616200
Antisynthetase Syndrome
Myocarditis, Keratoconjunctivitis sicca, Myositis, Arthritis, Skin rash, Lack of skin elasticity,... ORPHA:81
Pilarowski-Bjornsson Syndrome
Dermal translucency, Broad eyebrow, Motor stereotypy, Long eyelashes OMIM:617682
Beta-Thalassemia Major
Anisopoikilocytosis, Skin ulcer, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl... ORPHA:231214
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cafe-au-lait spot, Hypopigmentation of the skin, Splenomegaly, Hypopigmentation of hair OMIM:618541
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Dermal translucency, Thick eyebrow, Motor stereotypy ORPHA:529965
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Tongue thrusting, Hyperactivity, Hypopigmentation of the skin, Recurren... ORPHA:98794
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Nail dysplasia, Scaling skin, Nail dystrophy, Dystrophic fingernails, Ichthyosis follicularis, Fo... OMIM:308205
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Marburg Hemorrhagic Fever
Anorexia, Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyper... ORPHA:99826
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Anemia, Arthritis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Osteo... ORPHA:324964
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti... OMIM:615607
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Dysphagia, H... OMIM:277900
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia, Polyphagia ORPHA:251004
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Purpura, Skin ulcer, Acne, Decreased eosinophil count, Hyperpigmentation of the skin, H... ORPHA:99889
Pachyonychia Congenita 3
Nail dystrophy, Palmoplantar keratoderma, Onychogryposis of toenails, Plantar hyperkeratosis, Pal... OMIM:615726
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Hyperkeratosis, Enterocolitis OMIM:301108
Scarf Syndrome
Webbed neck, Hypoplastic nipples, Low posterior hairline, Cutis laxa, Sparse hair ORPHA:3134
Leukocyte Adhesion Deficiency
Perianal abscess, Nail dystrophy, Severe periodontitis, Impaired platelet aggregation, Sinusitis,... ORPHA:2968
Noonan Syndrome 2
Hypermelanotic macule, Redundant neck skin, Hyperpigmentation of the skin, Hyperkeratosis, Low po... OMIM:605275
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Thyroiditis, Decreased proportion of naive T cell... ORPHA:83471
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased ci... ORPHA:90363
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Hypokalemia, Long penis, Decreased circulating... OMIM:202010
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cheilitis, Hyperconvex fingernails, Papule, Sparse hair, Thin fingernail, Abnormal hair morpholog... ORPHA:2273
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Dry skin OMIM:618156
Systemic-Onset Juvenile Idiopathic Arthritis
Arthritis, Skin rash, Pericarditis, Splenomegaly, Anterior uveitis, Autoimmunity, Juvenile rheuma... ORPHA:85414
Lysinuric Protein Intolerance
Anemia, Hemophagocytosis, Pancreatitis, Cutis laxa, Thrombocytopenia, Leukopenia, Splenomegaly, S... OMIM:222700
Cranioectodermal Dysplasia 3
Rhizomelia, Dry skin, Broad nail, Cutis laxa, Short stature, Short nail, Sparse hair, Fine hair OMIM:614099
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Sinusitis, Bronchiectasis, Increased circulating IgM level, Pneumonia, Reduced... OMIM:242860
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair, Short eyelashes, Sparse axillary hair OMIM:608615
22Q11.2 Deletion Syndrome
Hypospadias, Hypocalcemia, Depression, Abnormality of the uterus, Attention deficit hyperactivity... ORPHA:567
Diffuse Cutaneous Systemic Sclerosis
Autoimmunity, Skin ulcer, Dysphagia, Arthritis ORPHA:220393
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High anterior hairline, Webbed neck, Highly arched eyebrow, Slow-growing hair, Low posterior hair... OMIM:617506
Blau Syndrome
Skin ulcer, Iritis, Intermittent generalized erythematous papular rash, Arthritis, Eczematoid der... OMIM:186580
Ablepharon Macrostomia Syndrome
Breast hypoplasia, Excessive wrinkled skin, Redundant skin, Absent eyelashes, Dry skin, Absent ey... ORPHA:920
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in indiv... ORPHA:168558
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypercholesterolemia, Conjugated hyper... ORPHA:186
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Dengue Fever
Petechiae, Skin rash, Thrombocytopenia, Leukopenia, Pruritus ORPHA:99828
Intellectual Developmental Disorder, Autosomal Dominant 34
Synophrys, Curly hair, Motor stereotypy, Bruxism, Coarse hair OMIM:616351
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hypercalcemia, Hyperphosphatemia OMIM:211900
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Abnormal circulating interferon-gamma concentration, Antiphospholipi... ORPHA:391487
Giant Cell Arteritis
Anorexia, Skin ulcer, Arthritis, Pericarditis, Alopecia ORPHA:397
Liver Disease, Severe Congenital
Irritability, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hy... OMIM:619991
Trichorhinophalangeal Syndrome Type 1
Leukonychia, Sparse eyelashes, Short stature, Sparse eyebrow, Fragile nails, Sparse hair ORPHA:77258
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Hypermelanotic macule, Myositis, Arthritis, Skin rash, Leukocytosis, Macule, Erysipelas, Pericard... ORPHA:32960
Sialidosis Type 1
Hyperkeratosis, Splenomegaly ORPHA:812
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Juvenile rheumatoid arthritis, Pancytopenia, Anti-dsDNA antibody pos... ORPHA:1855
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Tongue thrusting, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, ... ORPHA:98795
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Short stature, Patchy alopecia, Sparse hair OMIM:617763
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis ORPHA:79279
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in indiv... ORPHA:289548
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Hirsutism, Sparse hair OMIM:618087
De Barsy Syndrome
Postnatal growth retardation, Excessive wrinkled skin, Cutis laxa, Thin skin, Short stature, Spar... ORPHA:2962
B4Galt1-Cdg
Redundant neck skin, Inflammatory abnormality of the skin, Splenomegaly ORPHA:79332
Retinitis Pigmentosa With Or Without Skeletal Anomalies
High anterior hairline, Small nail, Cafe-au-lait spot, Sparse eyelashes, Sparse eyebrow, Short st... OMIM:250410
Congenital Disorder Of Glycosylation, Type Iia
Hirsutism, Stereotypical hand wringing, Long eyelashes, Thick eyebrow, Sparse hair, Motor stereot... OMIM:212066
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Recurrent otitis media, Hyperactivity, Recurrent hand flapping, Thin sk... ORPHA:449291
Frontonasal Dysplasia 2
Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia totalis, Nevus, Fine hair, Intrauterine g... OMIM:613451
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Facial hirsutism, Hirsutism, Synophrys, Thick eyebrow, Acne ORPHA:247768
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Glass Syndrome
Nail dysplasia, Hyperactivity, Frequent temper tantrums, Long eyelashes, Thin skin, Sparse hair, ... OMIM:612313
Simpson-Golabi-Behmel Syndrome
Nail dysplasia, Small nail, Increased circulating IgE level, Splenomegaly, Supernumerary nipple, ... ORPHA:373
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Skin ulcer, Increased red blood cell count, Papule, Granuloma, Sinusitis,... ORPHA:68
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
Acute Adrenal Insufficiency
Hyperkalemia, Anorexia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalc... ORPHA:95409
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Chronic otitis media, Sacral dimple, Toenail dysplasia, Oral-pharyngeal dysphagia, Hirsutism, Syn... OMIM:300966
Noonan Syndrome 10
Hyperpigmentation of the skin, Hyperkeratosis, Curly hair, Cafe-au-lait spot, Sparse eyebrow, Pal... OMIM:616564
Tempi Syndrome
Increased circulating IgG level, Polycythemia, Facial erythema, Increased hematocrit ORPHA:284227
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis OMIM:148600
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Freckled genitalia ORPHA:79076
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Nail dystrophy, Absent eyelashes, Sparse scalp hair, Absent eyebrow, S... OMIM:268400
Scarf Syndrome
Webbed neck, Hypoplastic nipples, Low posterior hairline, Cutis laxa, Low anterior hairline, Spar... OMIM:312830
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Severe intrauterine growth retardation, Cafe-au-lait spot, Short stature, Growth dela... OMIM:614114
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyponatremia, Hyperkalemia ORPHA:544482
Mandibuloacral Dysplasia With Type B Lipodystrophy
Brittle hair, Growth delay, Sparse hair, Dermal atrophy, Alopecia OMIM:608612
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Nail dystrophy, Anemia, Leukocytosis, Lymphadenitis, Eczematoid dermatitis, Thin skin, Inflammati... OMIM:615895
Joubert Syndrome 37
Short stature, Sparse hair OMIM:619185
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Short Syndrome
Excessive wrinkled skin, Severe short stature, Sparse hair, Alopecia ORPHA:3163
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Nail dystrophy, Hyperpigmentation of the skin, Absent eyelashes, Patchy alopecia, Sparse eyelashe... OMIM:106260
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Hirsutism, Recurrent hand flapping, Synophrys, Long eyelashes, Thick eyebr... OMIM:615485
Punctate Palmoplantar Keratoderma Type 1
Verrucous papule, Nail dystrophy, Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar kera... ORPHA:79501
Mevalonic Aciduria
Morbilliform rash, Fluctuating splenomegaly, Anemia, Skin rash, Leukocytosis, Increased circulati... OMIM:610377
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Panniculitis, Highly arched eyebrow, Hirsutism, Decreased circulating... ORPHA:3132
Good Syndrome
Anemia, Abnormal leukocyte morphology, Decreased circulating antibody level, Sinusitis, Thrombocy... ORPHA:169105
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Atrophic scars, Cutis laxa, Short stature, Sparse hair, Dermal translucency OMIM:615349
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Decreased circulating total IgA, Red... OMIM:619381
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Bruxism, Low frustration tolerance, Impulsivity, Unicornuate uterus, Stereotypical ... OMIM:619503
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Nail dysplasia, Generalized hypopigmentation, Hyperkeratosis, Hypoplastic nipples, Sparse scalp h... OMIM:129900
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair OMIM:617988
Inflammatory Pseudotumor Of The Liver
Autoimmune antibody positivity, Increased hepatitis B virus antibody level ORPHA:90003
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling, Sparse hair OMIM:614105
Adult-Onset Nemaline Myopathy
Neuromuscular dysphagia, Paraproteinemia ORPHA:171442
Zinc Deficiency, Transient Neonatal
Eczematoid dermatitis, Alopecia OMIM:608118
Hyperimmunoglobulinemia D With Periodic Fever
Purpura, Recurrent aphthous stomatitis, Arthritis, Increased circulating IgA level, Papule, Perit... ORPHA:343
Carney Complex, Type 1
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Nevus, Freckling OMIM:160980
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Sparse scalp hair, Dry skin, Splenomegaly, Spa... OMIM:612132
Koolen-De Vries Syndrome
Ichthyosis, Hypopigmentation of hair, Abnormality of hair texture, Dry skin, Overfriendliness ORPHA:96169
Infantile Systemic Hyalinosis
Thickened skin, Skin ulcer, Subcutaneous nodule, Hyperpigmentation of the skin ORPHA:2176
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Hamamy Syndrome
Abnormal number of hair whorls, Low posterior hairline, Preauricular skin tag, Sparse eyelashes, ... OMIM:611174
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... ORPHA:999
Plague
Anorexia, Localized skin lesion, Carbuncle, Skin ulcer, Inflammatory abnormality of the eye, Acut... ORPHA:707
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Rectal abscess, Discoid lupus rash, Recurrent bacterial skin infections, Lymphaden... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Rectal abscess, Discoid lupus rash, Recurrent bacterial skin infections, Lymphaden... OMIM:233710
Short Stature, Microcephaly, And Endocrine Dysfunction
Acanthosis nigricans, Anemia, Sparse hair, Lymphopenia OMIM:616541
Primary Sclerosing Cholangitis
Depression, Hypoalbuminemia ORPHA:171
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Tyrosinemia Type 2
Abnormality of the nail, Hyperkeratosis, Palmoplantar keratoderma ORPHA:28378
Hajdu-Cheney Syndrome
Skin ulcer, Periodontitis, Dry skin, Synophrys, Thickened skin, Abnormal fingernail morphology, G... ORPHA:955
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Acral ulceration OMIM:162400
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Aredyld Syndrome
Intrauterine growth retardation, Sparse body hair, Short stature, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Behcet Syndrome
Iritis, Arthritis, Patchy alopecia, Epididymitis, Iridocyclitis, Erythema nodosum, Erythema OMIM:109650
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Premature skin wrinkling, Absent eyelashes, Absent eyebrow, Sparse hai... ORPHA:363618
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Skin rash, Chronic neutropenia, Sinusitis, Bone marrow hypoce... ORPHA:811
Atypical Werner Syndrome
Premature graying of hair, Skin ulcer, Abnormal hair morphology, Abnormal hair quantity, Hyperker... ORPHA:79474
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair ORPHA:53271
Addison Disease
Hyperkalemia, Anorexia, Primary testicular failure, Hyperuricemia, Increased circulating renin le... ORPHA:85138
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
White-Sutton Syndrome
Hyperactivity, Tics, Motor stereotypy, Sparse hair, Overfriendliness, Self-injurious behavior, Ag... OMIM:616364
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Seborrheic dermatitis, B lymphocytopenia, Superficial dermal perivascular inflamma... ORPHA:83617
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Kawasaki Disease
Hypoalbuminemia, Irritability, Elevated circulating C-reactive protein concentration ORPHA:2331
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Postnatal growth retardation, Webbed neck, Highly arched eyebrow, Low posterior hairline, Cafe-au... OMIM:613563
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Rectal abscess, Discoid lupus rash, Recurrent bacterial skin infections, Lymphaden... OMIM:233690
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Testicular neoplasm, Hypercalcemia, Hypophosphatemia, Dysphagia, Uterine leiomyoma ORPHA:99880
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Gapo Syndrome
Nail dysplasia, Breast hypoplasia, Redundant skin, Hypoplastic nipples, Sparse eyelashes, Growth ... OMIM:230740
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Numerous nevi, Ichthyosis, Recurrent otitis media, Hyperkeratosis, Hypopigmentatio... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Numerous nevi, Ichthyosis, Recurrent otitis media, Hyperkeratosis, Hypopigmentatio... ORPHA:363958
Hallermann-Streiff Syndrome
Hyperactivity, Sparse scalp hair, Dry skin, Sparse eyelashes, Sparse eyebrow, Recurrent pneumonia... OMIM:234100
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Dystrophic fingernails, Hyperconvex fingernails, Dystrophic toenail, Sparse eyelashes, Sparse eye... ORPHA:1071
Staphylococcal Necrotizing Pneumonia
Acute infectious pneumonia, Leukocytosis, Neutrophilia, Leukopenia, Addictive alcohol use, Pneumonia ORPHA:36238
Tylosis With Esophageal Cancer
Parakeratosis, Follicular hyperkeratosis, Diffuse palmoplantar hyperkeratosis OMIM:148500
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Short stature, Sparse body hair, Hypogonadotropic hypogonadism ORPHA:3068
Parathyroid Carcinoma
Polydipsia, Testicular neoplasm, Hypercalcemia, Hypophosphatemia, Dysphagia, Uterine leiomyoma ORPHA:143
Scalp-Ear-Nipple Syndrome
Nail dysplasia, Pyelonephritis, Breast aplasia, Patchy alopecia, Dry skin, Thickened skin, Sparse... OMIM:181270
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Nail dystrophy, Facial hirsutism, Generalized hypopigmentation, Hyperkeratosis, Hypoplastic nippl... OMIM:604292
Reynolds Syndrome
Anti-centromere antibody positivity, Sclerodactyly, Antimitochondrial antibody positivity, Antinu... OMIM:613471
Biotinidase Deficiency
Seborrheic dermatitis, Skin rash, Splenomegaly, Conjunctivitis, Recurrent skin infections, Alopecia OMIM:253260
Weaver Syndrome
Thin nail, Polyphagia, Deep-set nails, Cutis laxa, Melanocytic nevus, Sparse hair, Fine hair OMIM:277590
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Trichotillomania
Compulsive behaviors, Hair-pulling, Alopecia OMIM:613229
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ichthyosis, Highly arched eyebrow, Hypoplastic nipples, Dry skin, Sparse lateral eyebrow, Acute l... OMIM:280000
Familial Tumoral Calcinosis
Hypopigmented skin patches, Skin rash, Splenomegaly, Subcutaneous nodule, Periarticular subcutane... ORPHA:53715
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie... OMIM:301074
Osteogenesis Imperfecta, Type Xx
Disproportionate short-limb short stature, Highly arched eyebrow, Sparse lateral eyebrow, Sparse ... OMIM:618644
Vitamin D-Dependent Rickets, Type 2A
Irritability, Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... ORPHA:3214
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Seborrheic dermatitis, Redundant skin, Arthritis, Eczematoid dermatitis, Palmoplantar hyperkerato... OMIM:259100
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Nail dysplasia, Short stature, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Fine hair OMIM:614091
Fibrous Dysplasia Of Bone
Precocious puberty in females, Testicular neoplasm, Hypercalcemia, Hypophosphatemia, Ovarian cyst ORPHA:249
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
ERI1-related disease
Short stature, Low anterior hairline, Anonychia, Sparse hair, Intrauterine growth retardation OMIM:608739
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormal temper tantrums, Abnormality of dermal melanosomes, Abnormality of hair texture, Epiderm... ORPHA:73223
Immunodeficiency 31C
Autoimmune hemolytic anemia, Chronic oral candidiasis, Impaired lymphocyte transformation with ph... OMIM:614162
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Decreased mean platelet volume, Skin rash, Perinuclear antineutrophil antibody pos... OMIM:617718
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Nevus flammeus of the forehead, Sparse hair OMIM:616449
Cryptogenic Organizing Pneumonia
Anorexia, Neutrophilia, Leukocytosis ORPHA:1302
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Thrombocytop... OMIM:620005
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Normocytic anemia, Anti-smooth muscle antibody positivity, Deep dermal perivascular inf... ORPHA:49041
Menkes Disease
Hypopigmentation of hair, Dry skin, Woolly hair, Thickened skin, Sparse hair, Atypical scarring o... ORPHA:565
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Delayed puberty, Brittle hair, Short stature, Chordee, Sparse hair, Intrauterine growth retardati... OMIM:618891
Relapsing Fever
Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia ORPHA:91547
Gaucher Disease Type 1
Anorexia, Anemia, Increased circulating antibody level, Pancytopenia, Splenic infarction, Splenic... ORPHA:77259
Listeriosis
Intermittent generalized erythematous papular rash, Pericarditis, Pustule, Cholecystitis, Granulo... ORPHA:533
Yao Syndrome
Arthritis, Skin rash, Pericarditis, Inflammatory abnormality of the skin, Keratoconjunctivitis si... OMIM:617321
Rift Valley Fever
Anorexia, Anemia, Increased circulating IgG level, Skin rash, Increased circulating IgM level, Th... ORPHA:319251
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Cheilitis, Skin ulcer, Anemia, Periodontitis, Generalized hypopigmentation,... ORPHA:534
Hallermann-Streiff Syndrome
Abnormality of hair texture, Proportionate short stature, Sparse eyelashes, Sparse body hair, Spa... ORPHA:2108
Down Syndrome
Leukemia, Blepharitis, Polycythemia, Neutrophilia, Thrombocytopenia, Sparse hair, Acute megakaryo... ORPHA:870
Holocarboxylase Synthetase Deficiency
Skin rash, Thrombocytopenia, Alopecia OMIM:253270
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia, Restlessness, Sparse hair, Fine hair, Self-mutilation, Aggressive behavior ORPHA:251028
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility, Delayed puberty, Decreased fertility in males, Hypergonadotropic hypogonadis... ORPHA:90796
Opitz-Kaveggia Syndrome
Skin tags, Sacral dimple, Facial wrinkling, Sparse hair, Attention deficit hyperactivity disorder... OMIM:305450
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Oculodentodigital Dysplasia
Brittle hair, Abnormality of the nail, Slow-growing hair, Curly hair, Abnormal fingernail morphol... ORPHA:2710
Lymphatic Malformation 12
Hyperkeratosis OMIM:620014
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Neutrophilia, Brain abscess ORPHA:54251
Crimean-Congo Hemorrhagic Fever
Leukopenia, Splenomegaly, Erythema nodosum, Cholecystitis, Anorexia, Morbilliform rash, Agitation... ORPHA:99827
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Charge Syndrome
External genital hypoplasia, Hypocalcemia, Labial hypoplasia, Hypoplastic male external genitalia... OMIM:214800
Herpes Simplex Virus Encephalitis
Neutrophilia, Addictive alcohol use, Leukocytosis ORPHA:1930
Restrictive Dermopathy
Scaling skin, Generalized hyperkeratosis, Sparse or absent eyelashes, Webbed neck, Aplasia/Hypopl... ORPHA:1662
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Nail dystrophy, Small nail, Sclerodactyly, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma OMIM:610644
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis, Pilomatrixoma, Nevus OMIM:620189
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Ramon Syndrome
Hyperkeratosis, Juvenile rheumatoid arthritis, Hypertrichosis, Pigmentary retinopathy OMIM:266270
Late-Onset Junctional Epidermolysis Bullosa
Localized skin lesion, Nail dystrophy, Anonychia ORPHA:79406
Inflammatory Bowel Disease 25, Autosomal Recessive
Pancolitis, Perianal abscess, Folliculitis, Enterocolitis OMIM:612567
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Rectal abscess, Discoid lupus rash, Recurrent bacterial skin infections, Lymphaden... OMIM:306400
Digeorge Syndrome
Hypocalcemia, Attention deficit hyperactivity disorder, Ovarian cyst, Hydrocele testis OMIM:188400
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Hypospadias, Rectovaginal fistula, Hypocalcemia, Increased VLDL cholesterol... OMIM:243800
Bethlem Muscular Dystrophy
Hyperkeratosis, Cigarette-paper scars ORPHA:610
Tropical Endomyocardial Fibrosis
Eosinophilia, Autoimmune antibody positivity, Increased circulating interleukin 6 concentration, ... ORPHA:75565
Complement Factor I Deficiency
Decreased circulating complement C3 concentration, Recurrent otitis media, Decreased circulating ... OMIM:610984
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Hypopigmentation of hair, Hyperpigmentation of the skin, Head-banging, ... ORPHA:177907
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hyperkeratosis, High anterior hairline, Dysphagia OMIM:615510
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis ORPHA:163966
Kaufman Oculocerebrofacial Syndrome
Preauricular skin tag, Short stature, Thin skin, Sparse eyebrow, Sparse hair OMIM:244450
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse eyelashes, Fine hair, Sparse hair, Short stature OMIM:257850
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Hydroxykynureninuria
Stomatitis, Dry skin, Motor stereotypy ORPHA:79155
Stuve-Wiedemann Syndrome 1
Premature skin wrinkling, Milia, Short stature, Thin skin, Sparse hair, Intrauterine growth retar... OMIM:601559
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior, Hypokalemia OMIM:219090
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Nail dysplasia, Breast hypoplasia, Rhizomelia, Small nail, Oligozoospermia, Growth delay, Sparse ... OMIM:614813
Marshall Syndrome
Sparse eyelashes, Sparse eyebrow, Osteoarthritis, Sparse hair ORPHA:560
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anemia, Hypopigmentation of hair, Thin skin, Iris hypopigmentation, Ocular albinism ORPHA:2719
Aicardi-Goutieres Syndrome 7
Anemia, Increased circulating antibody level, Pancytopenia, Arthritis, Skin rash, Chilblains, Ato... OMIM:615846
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:601678
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Acral ulceration OMIM:201300
Hawkinsinuria
Restlessness, Sparse hair OMIM:140350
Degcags Syndrome
Premature graying of hair, Abnormal spleen morphology, Hypopigmentation of the skin, Low posterio... OMIM:619488
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Precocious puberty, Hypercalcemia ORPHA:369837
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior ORPHA:309246
Familial Mediterranean Fever
Crohn's disease, Arthritis, Leukocytosis, Erysipelas, Pericarditis, Neutrophilia, Splenomegaly, O... OMIM:249100
Lenz-Majewski Hyperostotic Dwarfism
Cutis laxa, Thin skin, Chordee, Short stature, Sparse hair, Intrauterine growth retardation OMIM:151050
Pheochromocytoma
Hypercalcemia OMIM:171300
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Zygomycosis
Myocarditis, Unusual skin infection, Fasciitis, Neutropenia, Pancreatitis, Gastritis, Acute infec... ORPHA:73263
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Polyphagia OMIM:609734
Caffey Disease
Increased circulating antibody level ORPHA:1310
Japanese Encephalitis
Anorexia, Increased circulating antibody level, Increased circulating IgM level, Neutrophilia, In... ORPHA:79139
Cockayne Syndrome B
Abnormal hair morphology, Pigmentary retinopathy, Dry skin, Abnormality of skin pigmentation, Der... OMIM:133540
Fucosidosis
Abnormality of the nail, Generalized hyperkeratosis ORPHA:349
Craniolenticulosutural Dysplasia
Hyperpigmentation of the skin, Brittle hair, Abnormality of skin pigmentation, Sparse hair, Coars... ORPHA:50814
Cockayne Syndrome A
Irregular menstruation, Severe postnatal growth retardation, Dry skin, Short stature, Hypogonadis... OMIM:216400
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Ablepharon-Macrostomia Syndrome
Hypoplastic fingernail, Premature skin wrinkling, Redundant skin, Absent eyelashes, Hypoplastic n... OMIM:200110
Orofaciodigital Syndrome Type 1
Chronic otitis media, Coarse hair, Milia, Brittle hair, Dry skin, Sparse hair, Lip pit, Alopecia ORPHA:2750
Lipodystrophy, Familial Partial, Type 7
Acanthosis nigricans, Sparse scalp hair, Dry skin, Thin skin, Dysphagia, Sparse hair, Recurrent p... OMIM:606721
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Acral ulceration OMIM:256840
Lysinuric Protein Intolerance
Anemia, Hemophagocytosis, Increased circulating antibody level, Pancreatitis, Decreased circulati... ORPHA:470
Tick-Borne Encephalitis
Anorexia, Abnormal circulating cytokine concentration, Myelitis, Increased circulating IgG level,... ORPHA:297
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Nablus Mask-Like Facial Syndrome
Highly arched eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse eyelashes, Sparse eyebrow, L... OMIM:608156
Familial Mediterranean Fever
Pancreatitis, Arthritis, Skin rash, Leukocytosis, Erysipelas, Pericarditis, Splenomegaly, Osteoar... ORPHA:342
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis... ORPHA:90794
Transketolase Deficiency
Seborrheic dermatitis, Compulsive behaviors, Motor stereotypy, Conjunctivitis, Attention deficit ... ORPHA:488618
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation ... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation ... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation ... ORPHA:177901
Myeloma, Multiple
Paraproteinemia OMIM:254500
Parkes Weber Syndrome
Scaling skin, Skin ulcer, Capillary malformation, Erythematous plaque ORPHA:90307
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary ORPHA:3109
Fabry Disease
Anorexia, Anemia, Arthritis, Hyperkeratosis, Subcutaneous nodule ORPHA:324
Prader-Willi Syndrome
Hypopigmentation of hair, Periodontitis, Hypopigmentation of the skin, Polyphagia, Erysipelas, At... ORPHA:739
Ullrich Congenital Muscular Dystrophy 1A
Follicular hyperkeratosis OMIM:254090
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Thyroiditis, Increased circulating IgA level, Tubulointerstitial nephritis, Increased c... ORPHA:79078
Teebi-Shaltout Syndrome
Highly arched eyebrow, Slow-growing hair, Short stature, Low anterior hairline, Sparse hair OMIM:272950
Neuropathy, Hereditary Sensory And Autonomic, Type V
Acral ulceration OMIM:608654
De Sanctis-Cacchione Syndrome
Hypermelanotic macule, Parakeratosis, Keratitis, Conjunctivitis, Dermal atrophy OMIM:278800
Oculodentodigital Dysplasia
Slow-growing hair, Fragile nails, Sparse hair, Fine hair, Dry hair, Uveitis OMIM:164200
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, Iri... ORPHA:98754
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Sparse hair, Fine hair, Hypogona... OMIM:241080
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Aspiration pneumonia, Synophrys, Thick eyebrow, Recurrent as... OMIM:602535
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation of the skin, Compulsive beha... ORPHA:398069
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, Ski... ORPHA:398079
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormal temper tantrums, Skin ulcer, Anemia, Pancytopenia, Bacterial endocarditis, Hepatosplenom... ORPHA:2072
Mucolipidosis Ii Alpha/Beta
Recurrent otitis media, Brittle hair, Hypopigmentation of the skin, Sparse eyebrow, Recurrent pne... OMIM:252500
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Sapho Syndrome
Arthritis, Skin rash, Synovitis, Palmoplantar pustulosis, Pustule, Inflammation of the large inte... ORPHA:793
Vipoma
Anorexia, Hypercalcemia, Hypokalemia ORPHA:97282
Cranioectodermal Dysplasia 2
Cholangitis, Sparse eyelashes, Cutis laxa, Sparse eyebrow, Recurrent pneumonia, Splenomegaly, Spa... OMIM:613610
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:163746
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Nail dystrophy, Anemia, Pyoderma, Abnormality of the nail, Aplasia... ORPHA:79404
Gaucher Disease
Ichthyosis, Anemia, Increased circulating antibody level, Pancytopenia, Splenic infarction, Splen... ORPHA:355
Cerebellar-Facial-Dental Syndrome
Sparse eyebrow, Severe short stature, Sparse hair, Fine hair, Infancy onset short-trunk short sta... ORPHA:444072
Ppoma
Anorexia, Hypercalcemia ORPHA:97278
Glucagonoma
Anorexia, Hypercalcemia, Depression ORPHA:97280
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini... OMIM:619534
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Normochrom... ORPHA:91500
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Thick eyebrow, Sparse hair, Synophrys OMIM:609460
Costello Syndrome
Redundant neck skin, Acanthosis nigricans, Thin nail, Hyperpigmentation of the skin, Curly hair, ... OMIM:218040
Multiple Endocrine Neoplasia Type 4
Testicular neoplasm, Hypercalcemia, Cervix cancer ORPHA:276152
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Redundant neck skin, Sacral dimple, Preauricular skin tag, Frontal hirsutism, Eczematoid dermatit... OMIM:617157
Craniolenticulosutural Dysplasia
Short stature, Coarse hair, Sparse hair, Brittle hair OMIM:607812
Leprechaunism
Acanthosis nigricans, Hyperkeratosis, Thickened skin, Facial hypertrichosis, Hypertrichosis ORPHA:508
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Stillbirth, Disproportionate short stature, Severe postnatal growth retardation, Hyperkeratosis, ... OMIM:210710
Orofaciodigital Syndrome I
Milia, Short stature, Sparse hair, Dry hair, Alopecia OMIM:311200
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hyperkeratosis, Subcutaneous nodule, Papule ORPHA:79280
Townes-Brocks Syndrome 2
Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Excessive wrinkled skin, Molluscoid pseudotumors, Thin skin, Recurrent pneumonia, Palmoplantar cu... OMIM:225400
Kanzaki Disease
Petechiae, Hyperkeratosis, Dry skin OMIM:609242
Branchiooculofacial Syndrome
Supraauricular pit, Premature graying of hair, Postnatal growth retardation, Hypoplastic fingerna... OMIM:113620
Monosomy 22Q13.3
Sacral dimple, Hair-pulling, Hyperactivity, Long eyelashes, Recurrent pyelonephritis, Thick eyebr... ORPHA:48652
Somatostatinoma
Anorexia, Hypercalcemia ORPHA:97283
Cowden Syndrome
Hypopigmented skin patches, Generalized hyperkeratosis, Multiple cafe-au-lait spots, Papule, Macu... ORPHA:201
Mandibuloacral Dysplasia Progeroid Syndrome
Nail dystrophy, Sparse eyebrow, Elevated hemoglobin A1c, Sparse hair, Palmoplantar hyperkeratosis OMIM:619127
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Cervical neoplasm ORPHA:653
Grfoma
Anorexia, Hypercalcemia ORPHA:97261
Lassa Fever
Increased circulating IgM level, Dysphagia, Conjunctivitis ORPHA:99824
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Restrictive Dermopathy 1
Scaling skin, Absent eyelashes, Sparse eyelashes, Thin skin, Short nail, Sparse eyebrow, Aplasia/... OMIM:275210
Chilton-Okur-Chung Neurodevelopmental Syndrome
Recurrent otitis media, Highly arched eyebrow, Sparse scalp hair, Synophrys, Sparse lateral eyebr... OMIM:619841
Charcot-Marie-Tooth Disease Type 4B2
Penetrating foot ulcers ORPHA:99956
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Nevus, Hyperparakeratosis ORPHA:276280
Trichorhinophalangeal Syndrome, Type Ii
Alopecia of scalp, Recurrent otitis media, Chronic gastritis, Sparse scalp hair, Dry skin, Redund... OMIM:150230
Wiedemann-Rautenstrauch Syndrome
Recurrent otitis media, Acanthosis nigricans, Premature skin wrinkling, Hirsutism, Sparse scalp h... ORPHA:3455
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Nail dystrophy, Small nail, Hypoplastic nipples, Absent nipple, Preauricular pit, Sparse eyebrow,... OMIM:620186
Epidermolysis Bullosa, Junctional 4, Intermediate
Dystrophic fingernails, Nail dystrophy, Macular hyperpigmented dermopathy, Scarring alopecia of s... OMIM:619787
Williams Syndrome
Abnormal circulating lipid concentration, Hypoplasia of penis, Depression, Elevated circulating c... ORPHA:904
Phosphoribosylpyrophosphate Synthetase Superactivity
Sparse hair, Gout OMIM:300661
Adenocarcinoma Of The Anal Canal
Skin ulcer ORPHA:424016
Encephalitis Lethargica
Autoimmunity, Increased circulating antibody level ORPHA:83600
Proteus Syndrome
Irregular hyperpigmentation, Verrucous epidermal nevus, Generalized hyperkeratosis, Epidermal nev... ORPHA:744
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Nail dysplasia, Motor stereotypy, Sparse hair, Preauricular skin tag OMIM:616682
Sarcoidosis, Susceptibility To, 1
Anorexia, Increased circulating antibody level, Pancytopenia, Arthritis, Bronchiectasis, Inflamma... OMIM:181000
Wrinkly Skin Syndrome
Postnatal growth retardation, Excessive wrinkled skin, Excessive skin wrinkling on dorsum of hand... ORPHA:2834
Yellow Fever
Increased circulating interleukin 6 concentration, Skin rash, Acute pancreatitis, Leukocytosis, I... ORPHA:99829
6Q Terminal Deletion Syndrome
Highly arched eyebrow, Hyperkeratosis, Low anterior hairline ORPHA:75857
Focal Dermal Hypoplasia
Nail dysplasia, Nail dystrophy, Ridged nail, Linear hyperpigmentation, Brittle hair, Hypoplastic ... OMIM:305600
Warburg-Cinotti Syndrome
Thin skin, Follicular hyperkeratosis, Erythema, Sterile abscess OMIM:618175
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cutis laxa, Atrophic scars, Follicular hyperkeratosis OMIM:614557
Melkersson-Rosenthal Syndrome
Cheilitis, Inflammatory abnormality of the skin ORPHA:2483
Intellectual Developmental Disorder, Autosomal Dominant 68
Attention deficit hyperactivity disorder, Sparse hair OMIM:619934
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Choreoacanthocytosis
Self-injurious behavior, Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-bangi... ORPHA:2388
Kyphoscoliotic Ehlers-Danlos Syndrome
Atypical scarring of skin, Thin skin, Follicular hyperkeratosis, Synophrys ORPHA:536545
Myhre Syndrome
Thickened skin, Fine hair, Thick eyebrow, Sparse hair OMIM:139210
Multiple Endocrine Neoplasia Type 1
Anorexia, Hypercalcemia, Depression ORPHA:652
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Scalp-Ear-Nipple Syndrome
Abnormal fingernail morphology, Pyelonephritis, Sparse hair, Breast aplasia ORPHA:2036
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism, Pica OMIM:614527
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Synophrys, Dysphagia, Motor stereotypy ORPHA:447997
Wrinkly Skin Syndrome
Redundant skin, Short stature, Short nail, Fragile nails, Sparse hair, Intrauterine growth retard... OMIM:278250
Roberts Syndrome
Thrombocytopenia, Sparse hair ORPHA:3103
Autosomal Recessive Faciodigitogenital Syndrome
Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak ORPHA:1974
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressive behavior OMIM:616393
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Primary Triglyceride Deposit Cardiomyovasculopathy
Vacuolated lymphocytes, Pancreatitis, Inflammatory abnormality of the skin, Splenomegaly ORPHA:565612
Pmm2-Cdg
Hyperplastic labia majora, Reduced thyroxin-binding globulin, Decreased testicular size, Hypoalbu... ORPHA:79318
Gaucher Disease Type 3
Anemia, Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Splenomegaly ORPHA:77261
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Cornelia De Lange Syndrome 6
Hair-pulling, Highly arched eyebrow, Compulsive behaviors, Synophrys, Sparse eyebrow, Frontal ups... OMIM:620568
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Fanconi Anemia, Complementation Group L
Attention deficit hyperactivity disorder, Aplasia of the uterus, Micropenis OMIM:614083
Neurocardiofaciodigital Syndrome
Short stature, Sparse eyebrow, Sparse hair OMIM:619869
Cystinosis, Nephropathic
Polydipsia, Hypopigmentation of hair, Hypopigmentation of the skin, Splenomegaly, Dysphagia, Reti... OMIM:219800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hypospadias, Emotional lability, Hyperactivity, Compulsive behavi... ORPHA:353281
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Loss of eyelashes, Severe short stature, Thin eyebrow, Sparse hair, Intrauterine growth retardati... ORPHA:2636
Smith-Lemli-Opitz Syndrome
Attention deficit hyperactivity disorder, Self-injurious behavior, Abnormal eyelash morphology, H... ORPHA:818
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Renpenning Syndrome 1
Sparse lateral eyebrow, Short stature, Sparse hair, Brittle hair OMIM:309500
Sotos Syndrome
Aggressive behavior, Hypospadias, Phimosis, Hypercalcemia, Attention deficit hyperactivity disord... ORPHA:821
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level, Dysphagia OMIM:606002
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Cysticercosis
Infectious encephalitis, Increased anti-parasite IgE antibody level, Increased circulating antibo... ORPHA:1560
Williams-Beuren Syndrome
Obsessive-compulsive trait, Attention deficit hyperactivity disorder, Hypercalcemia, Micropenis OMIM:194050
Primrose Syndrome
Dystrophic fingernails, Sparse scalp hair, Tics, Synophrys, Sparse body hair, Restlessness, Absen... OMIM:259050
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Acral ulceration OMIM:256810
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aggressive behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Hyperactivi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aggressive behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Hyperactivi... ORPHA:353277
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral cryptorchidism, Ambiguo... OMIM:618280
Pallister-Killian Syndrome
Stillbirth, Sacral dimple, Rhizomelia, Webbed neck, Sparse anterior scalp hair, Mesomelic/rhizome... OMIM:601803
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy... ORPHA:322
Roberts-Sc Phocomelia Syndrome
Postnatal growth retardation, Stillbirth, Severe intrauterine growth retardation, Cafe-au-lait sp... OMIM:268300
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Hypospadias, Aplasia of the uterus, Compulsive behaviors, Cryptorchidism, A... OMIM:135900
Menke-Hennekam Syndrome 1
Thick eyebrow, Sparse hair, Long eyelashes OMIM:618332
Norrie Disease
Irritability, Cryptorchidism, Motor stereotypy, Attention deficit hyperactivity disorder, Self-in... ORPHA:649
Wolf-Hirschhorn Syndrome
Hypospadias, Aplasia of the uterus, Precocious puberty, Motor stereotypy, Cryptorchidism OMIM:194190
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture OMIM:130050
Hydrolethalus Syndrome 1
Bifid uterus, Hypospadias, Abnormal vagina morphology OMIM:236680
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism OMIM:276820
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Cryptorchi... OMIM:107480
Okamoto Syndrome
Bifid uterus ORPHA:2729
Vascular Ehlers-Danlos Syndrome
Hypospadias, Hypokalemia, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism ORPHA:286
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Epithelial Recurrent Erosion Dystrophy
Keratoconjunctivitis sicca ORPHA:293381
Epithelial Recurrent Erosion Dystrophy
OMIM:122400

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 Col17a1

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 Col17a1.

No publications found that use IMPC mice or data for Col17a1.

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MGI Allele Allele Type Produced
Col17a1em1(IMPC)Mbp Intra-exon deletion Mice, Tissue

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