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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
increased freezing behavior Col17a1em1(IMPC)Mbp HOM Early adult 5.71×10-05
abnormal skin morphology Col17a1em1(IMPC)Mbp HOM Early adult 0.00
decreased circulating serum albumin level Col17a1em1(IMPC)Mbp HOM Early adult 4.49×10-05
hydrometra Col17a1em1(IMPC)Mbp HOM Early adult 0.00
decreased circulating calcium level Col17a1em1(IMPC)Mbp HOM Early adult 3.72×10-08

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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
Palmoplantar keratoderma, Sparse body hair, Atrophic scars, Milia, Nail dystrophy, Scarring alope... ORPHA:79402
Localized Junctional Epidermolysis Bullosa
Atypical scarring of skin, Sparse pubic hair, Dystrophic toenail, Milia, Atrophic, patchy alopeci... ORPHA:251393
Late-Onset Junctional Epidermolysis Bullosa
Localized skin lesion, Anonychia, Nail dystrophy ORPHA:79406
Epidermolysis Bullosa, Junctional 4, Intermediate
Dystrophic fingernails, Scarring alopecia of scalp, Nail dystrophy, Macular hyperpigmented dermop... 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
Annular cutaneous lesion, Skin erosion, Cutaneous abscess, Neutrophilic infiltration of the skin,... ORPHA:555905
Darier Disease
Thickened skin, Plantar pits, Palmoplantar keratoderma, Hypermelanotic macule, Abnormal hair morp... 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
Hyperkeratotic papule, Atypical scarring of skin, Keloids, Erythematous papule, Localized skin le... ORPHA:79410
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Erythematous papule, Eczematoid dermatitis, Pruritis on breast, Urticarial plaq... ORPHA:64745
Dystrophic Epidermolysis Bullosa Pruriginosa
Papule, Increased circulating IgE level, Atrophic scars, Milia, Dermal atrophy, Nail dystrophy, A... ORPHA:89843
Dowling-Degos Disease
Hyperkeratotic papule, Inguinal freckling, Palmar pits, Erythematous papule, Acne inversa, Hyperm... ORPHA:79145
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Skin vesicle, Sparse axillary ha... OMIM:613102
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Erythematous papule, Skin ulcer, Rheuma... ORPHA:90280
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Sparse scalp hair, Fine hair, Increased circulating IgE lev... ORPHA:90368
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Alopecia, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chron... OMIM:618282
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Generalized Eruptive Histiocytosis
Erythematous papule, Spotty hyperpigmentation, Hypereosinophilia, Maculopapular exanthema, Leukem... ORPHA:157991
Peeling Skin Syndrome 1
Increased circulating IgE level, Nail dystrophy, Eosinophilia, Onycholysis, Erythroderma, Scaling... OMIM:270300
Papular Xanthoma
Skin plaque, Eruptive xanthomas, Histiocytosis ORPHA:158008
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Papule, Eczematoid dermatitis, Skin ulcer, Abnormal hair morphology, Osteomyelitis, Increased cir... ORPHA:2314
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Skin erosion, Hypopigmentation of the skin, Dystrophic toenail, Nevus, Abnormal fingernail morpho... ORPHA:89838
Acute Generalized Exanthematous Pustulosis
Cheilitis, Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic derm... ORPHA:293173
Proliferating Trichilemmal Cyst
Skin ulcer, Epidermoid cyst ORPHA:492
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-... ORPHA:169154
Pyoderma Gangrenosum
Skin ulcer, Atrophic scars, Increased circulating antibody level, Skin vesicle, Myeloid leukemia,... ORPHA:48104
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis, Skin plaque, Pruritus, Annular... ORPHA:737
Pemphigus Foliaceus
Erythema, Skin erosion, Psoriasiform dermatitis, Erythematous plaque, Autoimmunity, Crusting eryt... ORPHA:79481
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Brittle scalp hair, Sparse eyebrow, Eczematoi... OMIM:256500
Familial Benign Chronic Pemphigus
Erythema, Skin erosion, Skin vesicle, Acantholysis, Hyperkeratosis ORPHA:2841
Autoimmune Lymphoproliferative Syndrome, Type Iia
Antiphospholipid antibody positivity, Increased circulating IgA level, Autoimmune thrombocytopeni... OMIM:603909
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Chronic mucocutaneous candi... ORPHA:98813
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... OMIM:610163
Classic Mycosis Fungoides
Erythema, Alopecia, Irregular hyperpigmentation, Eczematoid dermatitis, Hypopigmented skin patche... ORPHA:2584
Autoimmune Lymphoproliferative Syndrome
Antineutrophil antibody positivity, Rheumatoid factor positive, Platelet antibody positive, Reduc... OMIM:601859
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Dermal atrophy, Alope... OMIM:617294
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Abnormal fingernail morphol... ORPHA:2722
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis
Sparse hair, Growth delay OMIM:246500
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Spotty hyperpigmentation, Erythema migrans, Parakeratosis, Generalized reticulate brown pigmentat... ORPHA:158681
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Decreased circulating IgG level, Cutaneous abscess, Recurrent otitis media, In... OMIM:618944
Necrobiosis Lipoidica
Erythema, Abnormality of neutrophil physiology, Indurated nodule, Granuloma, Skin ulcer, Skin nod... ORPHA:542592
Lichen Planus Pemphigoides
Abnormality of the nail, Skin vesicle, Hypopigmented streaks, Conjunctivitis, Pruritus, Hyperkera... ORPHA:254478
Hidrotic Ectodermal Dysplasia
Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, Alopecia, Sparse... ORPHA:189
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... OMIM:617638
Diffuse Palmoplantar Keratoderma, Bothnian Type
Erythema, Papule, Skin ulcer ORPHA:2337
Omenn Syndrome
Pneumonia, Thickened skin, Alopecia, Dry skin, Abnormal lymphocyte morphology, Autoimmunity, Leuk... ORPHA:39041
Lupus Erythematosus Tumidus
Urticarial plaque, Anti-dsDNA antibody positivity, Erythematous plaque, Antinuclear antibody posi... ORPHA:90283
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Erythema, Hypermelanotic macule OMIM:154800
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmoplantar keratoderma, Systemic lupus erythematosus, Orthokeratotic hyperke... ORPHA:498359
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Subcutaneous nodule, Generalized hyperpigmentation, Hyperkeratosis ORPHA:2297
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse pubic hair, Sparse axillary hair, Perifollicular hyperkeratosis, Sparse scalp hair ORPHA:505
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Papule, Spotty hyperpigmentation, Hypermelanotic macule, Plantar hyperkeratosis, Milia, Nail dyst... ORPHA:79399
Netherton Syndrome
Sparse eyebrow, Irregular hyperpigmentation, Eczematoid dermatitis, Fine hair, Abnormal hair morp... ORPHA:634
Dissecting Cellulitis Of The Scalp
Abnormal hair morphology, Pruritus, Subcutaneous nodule, Recurrent skin infections ORPHA:345
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Abnormality of humoral immunity, Lack ... ORPHA:277
Sweet Syndrome
Inflammation of the large intestine, Predominantly dermal neutrophilic infiltrate, Erythematous p... ORPHA:3243
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Autoimmunity, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Ne... OMIM:614470
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... OMIM:619281
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Short stature, Pr... OMIM:618625
Ulerythema Ophryogenesis
Hyperkeratotic papule, Erythematous papule, Sparse lateral eyebrow, Dry skin, Dermal atrophy, Fac... ORPHA:3406
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Papule, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ... ORPHA:69125
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acu... OMIM:616871
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Antineutrophil antibody positivity, Aplastic anemia, Periodontitis, Lymphopenia, Recur... ORPHA:486
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Anti-glutamic acid d... OMIM:304790
Dermatitis Herpetiformis
Erythema, Eczematoid dermatitis, Microcytic anemia, Autoimmunity, Skin vesicle, Macule, Pruritus ORPHA:1656
Benign Cephalic Histiocytosis
Papule, Inflammatory abnormality of the skin, Histiocytosis, Skin rash ORPHA:157997
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Molluscum contagiosum, Recurrent otitis media, Hepatosplenomegaly, I... OMIM:618982
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogryposis OMIM:617756
Immunodeficiency 7
Recurrent otitis media, Vitiligo, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimmune hemol... OMIM:615387
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Inflammatory abnormality of the skin, Erythematous papule, Spotty hyperpig... ORPHA:79147
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin, Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Immunodeficiency 51
Pneumonia, Folliculitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Cutaneous absc... OMIM:613953
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferati... ORPHA:169160
Acquired Ichthyosis
Erythema, Papule, Palmoplantar keratoderma, Dry skin, Autoimmunity, Recurrent skin infections, Ic... ORPHA:454
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Alopecia universalis, Decreased specific an... OMIM:606367
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Skin ulcer, Increased circulating IgE level, Recurrent sinusitis, B... ORPHA:217390
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratitis, Antin... OMIM:617388
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Hypoplastic fingernail, Dermal atrophy, Hyperconvex fingernails, Aplasia/Hypoplasia of ... ORPHA:257
Dermatofibrosarcoma Protuberans
Erythema, Subcutaneous nodule, Skin ulcer ORPHA:31112
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Moynahan Syndrome
Alopecia, Hypogonadism, Short stature, Sparse hair, Hyperkeratosis ORPHA:2574
Acute Myelomonocytic Leukemia
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
Juvenile Temporal Arteritis
Allergic rhinitis, Leukocytosis, Eosinophilia, Skin nodule, Conjunctivitis ORPHA:26137
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Sparse body hair, Atrophic scars, Milia, Nail dystrophy, Scarring alope... ORPHA:79402
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody... ORPHA:3361
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Irritability OMIM:146200
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Plantar hype... OMIM:144200
Ichthyosis-Prematurity Syndrome
Eosinophilia, Ichthyosis ORPHA:88621
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating IgE level, Eosino... OMIM:618523
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut... OMIM:243700
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Decreased circulating ... OMIM:619752
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Hypotrichosis 6
Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, ... OMIM:607903
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Arthritis, Thickened skin ORPHA:2582
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, E... OMIM:620532
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Kerion Celsi
Alopecia, Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous ab... ORPHA:499
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Skin erosion, Aggressive behavior, Patchy alopecia, Skin plaque, Papule, Hyperker... OMIM:247100
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial erythema, Palmoplantar hyperke... OMIM:212360
Erythrokeratodermia Variabilis
Erythema, Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Dry skin, Patchy palmo... ORPHA:317
Acne Inversa, Familial, 3
Perifolliculitis, Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation OMIM:613737
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating IgG level, Bronchiectasis, Pancytop... OMIM:618394
Ichthyosis Hystrix Of Curth-Macklin
Ichthyosis, Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyper... ORPHA:79503
Hypereosinophilic Syndrome, Idiopathic
Pruritus, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Hyperkeratosis-Hyperpigmentation Syndrome
Papule, Irregular hyperpigmentation, Multiple cafe-au-lait spots, Hyperkeratosis ORPHA:1336
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Comedo, Sparse eyelashes, Spar... OMIM:604379
Verrucous Hemangioma
Skin plaque, Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Decreased circulating IgG level, Skin ulcer, Increased circulating IgE level, ... OMIM:620603
Dyskeratosis Congenita
Periodontitis, Hypopigmented skin patches, White hair, Premature graying of hair, Sparse hair, Al... ORPHA:1775
Immunodeficiency 53
Recurrent pneumonia, Recurrent otitis media, Skin rash, Impaired lymphocyte transformation with p... OMIM:617585
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Palmoplantar ery... OMIM:104100
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Increased circulating IgE le... OMIM:617241
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Parana Hard Skin Syndrome
Generalized hirsutism, Thickened skin, Generalized hyperpigmentation, Hyperkeratosis ORPHA:2812
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Immunodeficiency 23
Allergic rhinitis, Erythema, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Rheumatoid... OMIM:615816
Epidermolysis Bullosa Dystrophica, Pretibial
Atrophic scars, Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Atrophic scars, Low anterior hairline, Spotty hypopigmentation, Absent ey... ORPHA:79133
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Decre... OMIM:300400
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Incr... OMIM:615767
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis, Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sparse eye... OMIM:602540
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis, Thickened skin, Irregular hyperpigmentation, Erythema, Papule, Generaliz... ORPHA:2135
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Chilblain Lupus 1
Antinuclear antibody positivity, Abnormality of the nail, Skin ulcer, Chilblains OMIM:610448
Incontinentia Pigmenti
Erythema, Supernumerary nipple, Sparse hair, Hyperkeratosis, Onychogryposis, Alopecia, Breast apl... OMIM:308300
Tooth Agenesis, Selective, 8
Dry skin, Sparse eyebrow, Sparse hair OMIM:617073
Hidrotic Ectodermal Dysplasia, Halal Type
Irregular menstruation, Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, A... ORPHA:1809
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair OMIM:601553
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair,... OMIM:158000
Congenital Panfollicular Nevus
Skin nodule, Hyperkeratosis, Verrucous papule ORPHA:139414
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Alopecia, Recurrent pneumonia, Decreased circulating antibody level, Autoimmu... OMIM:616576
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Increased circulating IgE level, Psori... OMIM:615508
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Sparse body hair, Melanocytic nevus, Abnormal eyelash morphology, Sparse sc... ORPHA:1008
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Reduced delayed hypersensitivit... OMIM:607624
Porphyria Variegata
Thickened skin, Localized skin lesion, Hypopigmentation of the skin, Skin erosion, Hypertrichosis... ORPHA:79473
Ichthyosis-Hypotrichosis Syndrome
Sparse hair, Ichthyosis ORPHA:91132
Lichen Planopilaris
Papule, Alopecia, Hypopigmented skin patches, Hepatitis, Skin ulcer, Abnormal fingernail morpholo... ORPHA:525
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Sinusitis, Eos... OMIM:226990
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... ORPHA:449400
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Increased circulating IgE level, Long eyelashes, Pustule, Papule OMIM:616069
Schopf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Dry skin, ... OMIM:224750
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Anti-Ro/SS-A antibody positivity, Dermal atrophy, Anti-dsDNA antibody positiv... ORPHA:163525
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Hirsu... OMIM:617237
Ichthyosis With Erythrokeratoderma
Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Leukonychia, Diffuse p... OMIM:620507
Epidermolysis Bullosa Simplex 1C, Localized
Milia, Hyperkeratosis OMIM:131800
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci... ORPHA:2688
Erythrokeratoderma ''En Cocardes''
Papule, Hyperkeratosis, Abnormality of skin pigmentation ORPHA:315
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Paronychia, Perioral erythema, Increased circulating IgE level, Pustule, Eryth... OMIM:614328
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Severe short stature, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar ker... ORPHA:2251
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular hyperkeratosis, Slow-growing ... ORPHA:573
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair, Dry skin, Sparse eyelashes, Sl... OMIM:618535
Roifman Syndrome
Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Recurrent otitis media, Hepatosp... ORPHA:353298
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks, Eosinophilia OMIM:614323
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... ORPHA:1808
Ichthyosis, Congenital, Autosomal Recessive 13
Palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis OMIM:617574
Hyperkeratosis Lenticularis Perstans
Aplasia/Hypoplasia of the skin, Papule, Skin ulcer ORPHA:409
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... OMIM:613000
X-Linked Agammaglobulinemia
Alopecia, Recurrent pneumonia, Hypopigmented skin patches, Hepatitis, Conjunctivitis, Skin ulcer,... ORPHA:47
Bazex Syndrome
Yellow nails, Palmoplantar keratoderma, Lip hyperpigmentation, Nail dystrophy, Parakeratosis, Aca... ORPHA:166113
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Macule, Arthritis, Subcutaneou... ORPHA:3165
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hyperg... ORPHA:79395
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Erythematous papule, Panhypogamm... OMIM:602450
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Diarrhea 13
Hypoalbuminemia OMIM:620357
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Erythematous papule, Skin-colored papule, Crusting erythematous dermatitis... ORPHA:79148
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Atrophoderma Vermiculata
Hyperkeratotic papule, Erythema, Hypoplastic pilosebaceous units, Atrophic scars, Skin pit, Peria... ORPHA:79100
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Alopecia, Mottled pigmentation, Hypermelanotic macule, Milia, Nail dystrop... ORPHA:79397
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... ORPHA:3261
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Keloids, Palmoplantar keratoderma, Eczematoid dermatitis, Sparse ... ORPHA:2890
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczematoid dermatitis, Hepatosplenomegaly, Decreased circulating antibody level, Interstitial pne... OMIM:615952
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Autoimmunity ORPHA:2902
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco... ORPHA:911
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Melanocytic nevus, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebr... ORPHA:1818
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Isolated Agammaglobulinemia
Pneumonia, Skin ulcer, Abnormal lymphocyte morphology, Autoimmunity, Skin rash, Otitis media, Inf... ORPHA:229717
Sting-Associated Vasculopathy, Infantile-Onset
Erythema, Pustular rash, Rheumatoid factor positive, Lymphopenia, Leukopenia, Malar rash, Skin ra... OMIM:615934
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis, Congenital nonbu... OMIM:617571
Immunodeficiency 88
Eosinophilia OMIM:619630
Omenn Syndrome
Pneumonia, Thickened skin, Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia... OMIM:603554
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Short stature, Sparse hair, Growth de... ORPHA:2985
Aplasia Cutis Congenita
Erythema, Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Con... ORPHA:1114
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis, Macule OMIM:615537
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... OMIM:102700
Dracunculiasis
Skin ulcer, Skin rash, Arthritis, Subcutaneous nodule, Pruritus, Recurrent cutaneous abscess form... ORPHA:231
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count, Autoimmunity OMIM:131430
Quinquaud Folliculitis Decalvans
Erythema, Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Recurre... ORPHA:346
Erosive Pustular Dermatosis Of The Scalp
Erythema, Skin erosion, Abnormal hair morphology, Pustule, Scarring alopecia of scalp ORPHA:222
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Alopecia, Coarse hair, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Chronic... OMIM:158310
Reticular Dysgenesis
Skin ulcer, Leukopenia, Skin rash, Anemia, Abnormality of neutrophils, Decreased circulating anti... ORPHA:33355
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia OMIM:300988
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Kondoh Syndrome
Intrauterine growth retardation, Thick eyebrow, Short stature, Sparse hair, Widow's peak OMIM:606242
Drug Reaction With Eosinophilia And Systemic Symptoms
Erythema, Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosin... ORPHA:139402
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Pityriasis Rubra Pilaris
Thickened skin, Subungual hyperkeratosis, Irregular hyperpigmentation, Palmoplantar keratoderma, ... ORPHA:2897
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Skin ulcer, Neutropenia OMIM:620443
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Incontinentia Pigmenti
Erythema, Hypopigmented skin patches, Supernumerary nipple, Abnormal hair morphology, Abnormal to... ORPHA:464
Systemic Lupus Erythematosus 17
Alopecia, Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopen... OMIM:301080
Dermoodontodysplasia
Toenail dysplasia, Sparse body hair, Dry skin, Melanocytic nevus, Fingernail dysplasia, Trichodys... ORPHA:1660
Erythrokeratodermia Variabilis Et Progressiva 6
Abnormal hair morphology, Erythematous plaque, Superficial dermal perivascular inflammatory infil... OMIM:618531
Keratoderma Hereditarium Mutilans
Self-injurious behavior, Alopecia, Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Abnormal to... ORPHA:494
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Prolidase Deficiency
Erythema, Papule, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail morphology, Dry skin,... ORPHA:742
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Mal De Meleda
Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Ichthyosis, Superficial... ORPHA:87503
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Congenital Disorder Of Glycosylation, Type Iq
Eczematoid dermatitis, Hypertrichosis, Microcytic anemia, Dry skin, Ichthyosis, Cutis laxa, Dysph... OMIM:612379
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Oliver-Mcfarlane Syndrome
Severe short stature, Alopecia, Long eyelashes, Hypogonadotropic hypogonadism, Delayed puberty, L... OMIM:275400
Ige Responsiveness, Atopic
Allergic rhinitis, Increased circulating IgE level, Eczematoid dermatitis OMIM:147050
Hereditary Folate Malabsorption
Pancytopenia, Decreased circulating antibody level, Pallor, Eosinophilia, Megaloblastic anemia, T... ORPHA:90045
Juvenile Hyaline Fibromatosis
Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Papule, Skin ulcer ORPHA:2028
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocy... OMIM:619644
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Arthritis, Anemia, Uveitis OMIM:607115
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Erythematous papule, Hemophagocytosis, Skin ulcer, Hepatosplenomegaly, Erythematous plaque ORPHA:86884
Bathing Suit Ichthyosis
Thickened skin, Alopecia, Nail dystrophy, Ichthyosis, Parakeratosis, Erythroderma, Palmoplantar h... ORPHA:100976
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly... OMIM:616099
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Ichthyosis, Annular Epidermolytic, 1
Erythema, Skin erosion, Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Erythematou... OMIM:607602
Autoimmune Hypoparathyroidism
Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Hypocalcemic seiz... ORPHA:36913
Roifman Syndrome
Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Recurrent otitis media, Splenome... OMIM:616651
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
2P21 Microdeletion Syndrome
Hypogonadism, Hypocalcemia ORPHA:163693
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Milia, Sparse or absent eyelashes, Pili torti,... ORPHA:113
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Lamellar Ichthyosis
Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Aplasia/Hypoplasia of the eyebrow, P... ORPHA:313
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Leishmaniasis
Skin ulcer, Leukopenia, Pancytopenia, Pallor, Abnormal macrophage morphology, Splenomegaly, Skin ... ORPHA:507
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Thin eyebrow, Eosinophilia OMIM:618092
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Ichthyosis, Parakeratosis, Pruri... OMIM:615821
Eosinophilic Granulomatosis With Polyangiitis
Hypopigmented skin patches, Autoimmunity, Skin rash, Increased inflammatory response, Myositis, E... ORPHA:183
Dermoodontodysplasia
Dry skin, Trichodysplasia, Nail dysplasia, Thin skin OMIM:125640
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Skin ulcer, Systemic lupus erythematosus, Facial hirs... OMIM:170100
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Blepharitis, Congenital ichthyosiform erythroderma, Sparse body hair, Curly eyela... OMIM:602400
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Decreased proportion of CD4-positive T cell... OMIM:619374
Adamantinoma
Hypercalcemia ORPHA:55881
Olmsted Syndrome 2
Alopecia universalis, Cheilitis, Palmoplantar keratoderma, Perioral hyperkeratosis, Woolly hair, ... OMIM:619208
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Minimal change glomerulonephritis, Eczematoid dermatitis, Hepatitis, Increased circ... OMIM:620565
Aspergillosis
Pneumonia, Localized skin lesion, Keratitis, Hepatitis, Increased circulating IgE level, Osteomye... ORPHA:1163
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Dry skin, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair OMIM:129490
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:615598
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Syndromic X-Linked Intellectual Disability 7
Short stature, Hypogonadism, Sparse body hair ORPHA:85274
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Neutropenia, Chronic Familial
Periodontitis, Neutropenia, Increased circulating antibody level OMIM:162700
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Leukocyte Adhesion Deficiency Type Ii
Recurrent pneumonia, Keratitis, Microcytic anemia, Recurrent otitis media, Long eyelashes, Leukoc... ORPHA:99843
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Perifolliculitis, Alopecia of scalp OMIM:260910
C1Q Deficiency 2
Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm antibody positivity, ... OMIM:620321
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco... OMIM:618048
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Psoriasis 14, Pustular
Erythema, Psoriasiform dermatitis, Leukocytosis, Nail dystrophy, Pustule, Parakeratosis, Oligoart... OMIM:614204
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon... OMIM:619824
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Palmoplantar hyperke... OMIM:604536
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Dry skin, Alopecia of sc... ORPHA:2269
Idiopathic Trachyonychia
Atopic dermatitis, Toenail dysplasia, Fingernail dysplasia, Vitiligo, Ridged nail, Nail dystrophy... ORPHA:79153
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Congenital ichthyosiform erythroderma, Nail dystrophy, Ichthyosis, Nail dysplasia, Para... OMIM:242300
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Hypogonadism, Brittle hair, Pili torti, Aplasia/Hypoplasia... ORPHA:202
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Hypopigmentation of the skin, Skin ulcer, Lymphopenia, Derm... ORPHA:454831
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Erythroderma, Hyperkeratosis, Congenital bullou... ORPHA:312
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pallor, Chronic l... ORPHA:98849
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce... OMIM:620632
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Decreased proportion of CD8-positive T cells, Lymphopenia, R... OMIM:301000
Bazex-Dupre-Christol Syndrome
Atopic dermatitis, Coarse hair, Acne inversa, Eczematoid dermatitis, Nevus, Trichorrhexis nodosa,... OMIM:301845
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Pyoderma gangrenos... OMIM:150550
Panniculitis-Induced Localized Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Abnormal immunoglobulin level, Antinuclear antibo... ORPHA:90159
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hy... ORPHA:38
Phenylketonuria
Fair hair, Eczematoid dermatitis, Dry skin, Self-mutilation, Scleroderma, Aggressive behavior, At... OMIM:261600
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Folliculitis, Palmoplantar keratoderma, Keratitis, Dry skin, Nail dystrophy, Spar... OMIM:308800
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Malar rash, Erythematous plaque, Splenomegaly, Skin rash, Parakera... ORPHA:398124
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... 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
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Flynn-Aird Syndrome
Dermal atrophy, Alopecia, Alopecia of scalp, Hyperkeratosis OMIM:136300
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz... OMIM:615024
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Leukocytosis, Eosinophilia, Anemia, Dysphagia ORPHA:2070
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Decreased circulating IgE, Impaired memory B cell generation, He... OMIM:308230
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Er... OMIM:617526
Acral Peeling Skin Syndrome
Erythema, Skin erosion, Eczematoid dermatitis, Excessive wrinkling of palmar skin, Ichthyosis, Hy... ORPHA:263534
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Paroxysmal bursts of laughter, Motor stereotypy OMIM:618347
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa... OMIM:614594
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane... OMIM:613736
Lipoid Proteinosis
Thickened skin, Alopecia of scalp, Pustule, Hyperkeratosis, Dysphagia, Subcutaneous nodule, Papul... ORPHA:530
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Purpura, Skin ulcer, Thin skin ORPHA:743
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Esophagitis, Eosinophilic, 2
Eosinophilia, Esophagitis, Dysphagia OMIM:613412
Pseudohypoparathyroidism Type 1B
Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Hypocalcemic seiz... ORPHA:94089
Esophagitis, Eosinophilic, 1
Eosinophilia, Esophagitis, Dysphagia OMIM:610247
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyperlipidemi... ORPHA:247585
Poikiloderma With Neutropenia
Sparse eyebrow, Recurrent pneumonia, Palmoplantar keratoderma, Sparse lateral eyebrow, Recurrent ... OMIM:604173
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Idiopathic Localized Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Hypopigmentation of the skin, Morphea, Scleroderm... ORPHA:90158
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Melanocytic nevus, Pili torti, Freckling, Brittle hair, Hyperkeratosis, Sparse scalp hair ORPHA:1573
Cole Disease
Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Abnormal hair m... OMIM:615522
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Pyoderma gangrenosum, Sterile abscess, Throm... OMIM:604416
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Dry skin, Pallor, Ichthyosis, Facial... OMIM:603165
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Xq27.3Q28 Duplication Syndrome
Short stature, Intrauterine growth retardation, Hypogonadism, Sparse body hair ORPHA:261483
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cell morphology, Agammagl... OMIM:615214
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Neutropenia in pre... OMIM:619220
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat... ORPHA:530838
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Recurrent skin infections, Autoimmune thromb... OMIM:301082
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Chronic Graft Versus Host Disease
Thickened skin, Alopecia, Erythema, Skin ulcer, Urinary bladder inflammation, Fasciitis, Anorexia... ORPHA:99921
Livedoid Vasculopathy
Hyperpigmented streaks, Abnormality of complement system, Erythematous papule, Polycythemia, Skin... ORPHA:542643
Coccidioidomycosis
Indurated nodule, Urticarial plaque, Abnormality of the spleen, Morbilliform rash, Abscess, Eryth... ORPHA:228123
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia OMIM:300299
Schnitzler Syndrome
Papule, Leukocytosis, Skin rash, Splenomegaly, Macule, Arthritis, Anemia, Pruritus, Increased cir... ORPHA:37748
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Membranous nephropathy OMIM:618999
Vulvovaginal Gingival Syndrome
Erythema, Skin erosion, Abnormality of tumor necrosis factor secretion, Ridged nail, Parakeratosi... ORPHA:83453
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Petechiae, Neutropenia, Thromb... OMIM:616216
Sézary Syndrome
Alopecia, Irregular hyperpigmentation, Palmoplantar keratoderma, Dry skin, Abnormal lymphocyte mo... ORPHA:3162
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology ORPHA:98848
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Skin-colored papule, Leukonychia, Nail dystrophy, Anonychia, Punctate palmoplant... ORPHA:79151
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Alopecia totalis, Para... OMIM:300918
Coffin-Siris Syndrome 8
Self-injurious behavior, Eczematoid dermatitis, Hypertrichosis, Long eyelashes, Thick eyebrow, Ag... OMIM:618362
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Abnormal fingernail morphology, Sparse hair, Thin skin ORPHA:1810
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Comedo, Ridged nail, Sparse eyelashes, Sparse a... OMIM:278150
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Hypogonadism, Long eyelashes, Sparse hair, Growth delay ORPHA:3363
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypocalcemia, Hypergonadotropic hypogonadism OMIM:606407
Papillon-Lefèvre Syndrome
Abnormality of the nail, Palmoplantar keratoderma, Hypopigmented skin patches, Periodontitis, Spa... ORPHA:678
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
Chikungunya
Depigmentation/hyperpigmentation of skin, Erythema, Skin rash, Maculopapular exanthema, Infectiou... ORPHA:324625
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega... OMIM:619924
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Localized Junctional Epidermolysis Bullosa
Atypical scarring of skin, Sparse pubic hair, Dystrophic toenail, Milia, Atrophic, patchy alopeci... ORPHA:251393
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Abnormal fingernail morphology, Diffuse palmoplantar hyperkeratosis, Palmoplanta... ORPHA:2199
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Sjögren-Larsson Syndrome
Erythema, Dry skin, Generalized hyperpigmentation, Ichthyosis, Abnormality of retinal pigmentatio... ORPHA:816
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Psoriasiform lesion, Superficial dermal perivascula... ORPHA:284426
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre... OMIM:607271
Ectodermal Dysplasia 9, Hair/Nail Type
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... OMIM:614931
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczematoid dermatitis, Thyroiditis OMIM:618985
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Eosinophilia OMIM:253600
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Ichthyosis, Follicular hyperkeratosis, Brittle hair, Congenital nonbullous ic... OMIM:618546
Immunodeficiency 27A
Pneumonia, Rheumatoid factor positive, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, ... OMIM:209950
Focal Facial Dermal Dysplasia Type Iv
Nevus, Abnormal mast cell morphology ORPHA:398189
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Acanthosis nigr... ORPHA:411593
Fanconi Anemia, Complementation Group G
Anemia, Multiple cafe-au-lait spots, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Hypopigmented skin patches, Sparse lateral eyebrow, Redundant skin, Aplasi... ORPHA:1807
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Eczematoid dermatitis, Breast ... ORPHA:238468
Acrogeria
Aplasia/Hypoplasia of the skin, Skin ulcer, Excessive wrinkled skin, Thin skin ORPHA:2500
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyebrow, Orthokeratosis, Dry skin, Splenomegaly, Ichthyosis, Sparse eyelashes, S... OMIM:607626
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Small nail, Fine hair, Trichorrhexis nodosa, Dry skin, Tiger tai... OMIM:601675
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Erythroderma, Scaling skin, Ge... OMIM:612281
Familial Keratoacanthoma
Subcutaneous nodule, Papule, Skin ulcer ORPHA:493
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Hypotrichosis 9
Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc... OMIM:614237
Pemphigus Erythematosus
Localized skin lesion, Skin erosion, Hypopigmented skin patches, Focal dermal aplasia/hypoplasia,... ORPHA:79480
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Alopecia of scalp, Hyperpigmentation of the skin, Follicular hyperkeratosis, E... OMIM:608649
Ichthyosis Vulgaris
Ichthyosis, Dry skin, Eczematoid dermatitis OMIM:146700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Cheilitis, Dry skin, Leukonychia, Angular cheilitis, Onycholysis, Follicular hyperkeratosis, Punc... OMIM:616295
Non-Acquired Isolated Growth Hormone Deficiency
Premature skin wrinkling, Delayed puberty, Short stature, Sparse hair, Growth delay ORPHA:631
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse pubic hair, Sparse axillary hair, Hypogonadotropic hypogonadism, Primary amenorrhea, Infer... OMIM:146110
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Immunodeficiency 104
Pneumonia, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Sple... OMIM:608971
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Pneumonia, Nail dystroph... OMIM:618806
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,... OMIM:604117
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Acanthocytosis, Parakeratosis, Eryt... OMIM:604777
Papa Syndrome
Skin ulcer, Crohn's disease, Pustule, Increased inflammatory response, Myositis, Increased circul... ORPHA:69126
Chronic Mucocutaneous Candidiasis
Cheilitis, Erythema, Papule, Hepatitis, Skin ulcer, Abnormal fingernail morphology, Skin rash, Ab... ORPHA:1334
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Aredyld
Generalized hypotrichosis OMIM:207780
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati... OMIM:616050
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Low posterior hairline, Sparse facial hair, Short stature, Absent facial hair, Hyper... ORPHA:2183
Progeroid Syndrome, Petty Type
Abnormal hair morphology, Intrauterine growth retardation, Thick eyebrow, Redundant skin, Long ey... ORPHA:2963
Proteus Syndrome
Nevus, Splenomegaly, Epidermal nevus, Depigmentation/hyperpigmentation of skin, Hyperkeratosis OMIM:176920
Ectodermal Dysplasia-Syndactyly Syndrome 2
Follicular hyperkeratosis, Sparse hair, Palmoplantar keratoderma, Congenital bullous ichthyosifor... OMIM:613576
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Ichthyosis, Nail dystrophy, Sparse hair OMIM:619692
Pseudohypoparathyroidism, Type Ic
Hypogonadism, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro... ORPHA:3260
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Pachyonychia Congenita
Onychogryposis of fingernail, Alopecia, Cutaneous cyst, Palmoplantar keratoderma, Epidermoid cyst... ORPHA:2309
Tularemia
Pneumonia, Localized skin lesion, Brain abscess, Cutaneous abscess, Leukocytosis, Skin rash, Otit... ORPHA:3392
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia,... OMIM:266265
Leopard Syndrome 3
Few cafe-au-lait spots, Multiple lentigines, Dry skin, Low posterior hairline, Curly hair, Hyperk... OMIM:613707
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hepatitis, Dry skin, Vitiligo, Autoimmunity, Macrocytic anemia, Hashimoto thyr... ORPHA:199299
Beta-Thalassemia
Skin ulcer, Microcytic anemia, Pallor, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia ORPHA:848
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema, Alopecia, Palmoplantar keratoderma, Small nail, Congenital ichthyosiform erythroderma, ... OMIM:242100
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse body hair, Hypergonadotropic hypogonadism, Aplasia/Hypoplasia of the eyebrow, Sh... ORPHA:2850
Dermatomyositis
Erythema, Abnormal eosinophil morphology, Anti-transcription intermediary factor-1gamma antibody ... ORPHA:221
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha... ORPHA:64753
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Porphyria Cutanea Tarda, Type I
Addictive alcohol use, Hyperpigmentation of the skin, Eczematoid dermatitis, Hypertrichosis OMIM:176090
Recessive X-Linked Ichthyosis
Dry skin, Attention deficit hyperactivity disorder, Hyperkeratosis, Ichthyosis ORPHA:461
Chromomycosis
Hyperkeratotic papule, Atypical scarring of skin, Keratitis, Hypopigmented skin patches, Hyperpar... ORPHA:182
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Nail dystrophy, Linear arrays of macular hyper... OMIM:601952
Atelis Syndrome 1
Irregular hyperpigmentation, Eczematoid dermatitis, Decreased lymphocyte proliferation in respons... OMIM:620184
Herpes Simplex Virus Stromal Keratitis
Herpetiform vesicles ORPHA:137599
Fusariosis
Abnormality of the spleen, Lymphopenia, Neutropenia, Subcutaneous nodule, Skin detachment, Granul... ORPHA:228119
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Intrauterine growth retardation, Skin dimple, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Thi... ORPHA:261304
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Scaling skin, Hyperkeratosis OMIM:607936
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgE, Decreased circulating IgA level, Auto... OMIM:615758
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Eczematoid dermatitis, Dry skin, Leukopenia, Thrombocytopenia, Anemi... OMIM:618116
Cyclic Neutropenia
Periodontitis, Lymphopenia, Cyclic neutropenia, Otitis media, Perianal abscess, Tooth abscess, Pe... ORPHA:2686
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Pallor ORPHA:2786
Igg4-Related Kidney Disease
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Increased circulating IgE level, ... ORPHA:449395
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... ORPHA:79477
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypomagnesemia, Hypocalcemia, Anorexia OMIM:175500
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Folliculitis, Sparse eyebrow, Palmoplantar keratoderma, Keratitis, Nail dystrophy, Spar... OMIM:612843
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Irritability ORPHA:656
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Abnormal vagina morphology ORPHA:2123
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Skin ulcer ORPHA:139578
Subcorneal Pustular Dermatosis
Erythema, Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating... ORPHA:48377
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Boutonneuse Fever
Leukopenia, Skin rash, Petechiae, Macule, Thrombocytopenia, Skin nodule, Increased circulating Ig... ORPHA:83313
Thrombocytopenia 1
Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Petechiae... OMIM:313900
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Brittle hair, Short stature, Sparse hair, Hyperkeratosis ORPHA:1883
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... OMIM:617780
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Dystrophic toenail, Dermal atrophy, Milia, Erythematous plaque, Crusting erythematous d... ORPHA:158673
Heyn-Sproul-Jackson Syndrome
Severe short stature, Intrauterine growth retardation, Sparse hair OMIM:618724
Lead Poisoning
Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level... ORPHA:330015
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Kid Syndrome
Trichilemmoma, Posterior blepharitis, Psoriasiform dermatitis, Sparse eyelashes, Follicular hyper... ORPHA:477
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Juvenile Arthritis
Antinuclear antibody positivity, Leukocytosis, Skin rash, Thrombocytosis OMIM:618795
Lessel-Kubisch Syndrome
Short stature, Sparse pubic hair, Hypogonadism, Premature graying of hair OMIM:618681
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Decreased circulating antibody level, Erythroderma OMIM:617425
Alopecia Antibody Deficiency
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Short stature, Abnormal eyelash morphology, ... ORPHA:1006
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD... ORPHA:572
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Psoriasiform lesion, E... OMIM:614700
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Orthokeratosis, Acne inversa, Eczematoid dermatitis, Sparse lateral eye... OMIM:617337
Ichthyosis With Confetti
Hypertrichosis, Ichthyosis, Hypoplastic nipples, Erythroderma, Palmoplantar hyperkeratosis, Scali... OMIM:609165
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Ollier Disease
Anemia, Subcutaneous nodule, Skin ulcer ORPHA:296
Peeling Skin Syndrome 6
Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus OMIM:618084
Trichodental Dysplasia
Sparse hair, Slow-growing hair, Fine hair, Brittle hair OMIM:601453
Odontoonychodermal Dysplasia
Erythema, Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, ... OMIM:257980
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Cryptorchidism, Micropenis, Hypocalcemic seizures OMIM:241410
Pseudopelade Of Brocq
Cheilitis, Alopecia, Papule, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Recurre... ORPHA:129
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide... ORPHA:70593
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Sparse eyebrow, Eczematoid dermatitis, Trichorrhexis nodosa, Cutis laxa, Woolly hair OMIM:619691
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Leukonychia, Hyperkeratosis OMIM:617525
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Cryptorchidism, Hyponatremia, Hypertriglyceridemia OMIM:618183
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Thickened skin, Alopecia, Erythema, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail mor... ORPHA:659
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Acrokeratosis Verruciformis
Ridged nail, Verrucous papule, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis,... OMIM:101900
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... OMIM:242150
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo... ORPHA:508533
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyebrow, Dry skin, Ichthyosis, Sparse eyel... OMIM:610768
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Irritability OMIM:264700
Pemphigus Vulgaris
Atypical scarring of skin, Urticarial plaque, Autoimmunity, Alopecia of scalp, Anti-desmoglein-1 ... ORPHA:704
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Elastoderma
Eczematoid dermatitis, Erysipelas, Premature skin wrinkling, Cutis laxa, Skin nodule, Papule ORPHA:228240
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Splenomegaly, Ichthyosis, Sparse eyelashes, Scarring alopecia o... ORPHA:59303
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... ORPHA:1433
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperke... OMIM:145250
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Agammaglobulinemia, X-Linked
Recurrent otitis media, Prostatitis, Neutropenia, Epididymitis, Pyoderma, Recurrent sinusitis, An... OMIM:300755
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Anorexia ORPHA:2494
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Recurrent viral pneumonia, Increased circulating I... OMIM:619773
Cystic Echinococcosis
Peritoneal abscess, Localized skin lesion, Splenic cyst, Abscess, Increased circulating antibody ... ORPHA:400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Alopecia, Eczematoid dermatitis, Long eyelashes, Curly eyelashes, Excessiv... ORPHA:3051
Reni Syndrome
Hypoalbuminemia, Hypogonadism, Cryptorchidism, Hypertriglyceridemia, Micropenis OMIM:617575
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Pancolitis, Eosinophilic infil... OMIM:618213
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormality of the uterus, Hypocalcemia, Cryptorchidism, Abnormal fallopian tube morphology, Micr... ORPHA:1655
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Cryptorchidism OMIM:608104
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Atopic dermatitis, Inflammation of the large intestine, Pneumonia, Decreased ... ORPHA:436159
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Yellow nails, Palmoplantar keratoderma, Hypergranulosis, Nail dystrophy, Onycholysis, Orthokerato... OMIM:148700
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Hyperkeratosis, Scaling skin OMIM:602723
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Gand Syndrome
Tics, Inappropriate laughter, Sparse hair, Hyperactivity OMIM:615074
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia, Irritability OMIM:613070
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Eczematoid derma... OMIM:617052
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity, Ichthyosis, Splenomegaly, Autoimmu... OMIM:618495
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Septate vagina, Hypocalcemia, Aplasia of the uterus, Vaginal atresia, Hypocalce... ORPHA:2237
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Pressure-Induced Localized Lipoatrophy
Skin nodule, Erythema, Inflammatory abnormality of the skin ORPHA:90160
Immunodeficiency 58
Allergic rhinitis, Molluscum contagiosum, Esophagitis, Psoriasiform lesion, Dysphagia, Chronic ot... OMIM:618131
Chronic Granulomatous Disease
Eczematoid dermatitis, Skin ulcer, Splenomegaly, Otitis media, Macule, Sinusitis, Inflammatory ab... ORPHA:379
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Self-injurious behavior, Parakeratosis, Subcutaneous nodule, Hyperkeratosis, Agitation OMIM:618339
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Lupus a... OMIM:615688
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Focal Facial Dermal Dysplasia 3, Setleis Type
Distichiasis, Sparse hair, Absent lower eyelashes, Low anterior hairline OMIM:227260
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
Acrodermatitis Enteropathica
Erythema, Alopecia, Ridged fingernail, Blepharitis, Skin ulcer, Abnormal eyebrow morphology, Ridg... ORPHA:37
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... ORPHA:449432
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... ORPHA:331235
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Pneumonia, Reduced natural killer cell coun... ORPHA:276
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Irritab... OMIM:603553
Classic Phenylketonuria
Self-injurious behavior, Hypopigmentation of the skin, Eczematoid dermatitis, Lack of skin elasti... ORPHA:79254
Schöpf-Schulz-Passarge Syndrome
Alopecia, Sparse hair, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Noonan Syndrome 6
Webbed neck, Multiple lentigines, Low posterior hairline, Curly hair, Short stature, Long eyebrow... OMIM:613224
Limited Cutaneous Systemic Sclerosis
Skin ulcer, Hypopigmented skin patches, Autoimmunity, Abnormality of skin pigmentation, Dysphagia ORPHA:220402
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Ataxia-Telangiectasia
Premature graying of hair, Lymphopenia, Aplasia/Hypoplasia of the skin, Multiple cafe-au-lait spo... ORPHA:100
Variegate Porphyria, Childhood-Onset
Milia, Atopic dermatitis, Skin erosion, Epidermal hyperkeratosis OMIM:620483
Wiskott-Aldrich Syndrome 2
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati... OMIM:614493
Pachyonychia Congenita 2
Subungual hyperkeratosis, Dry hair, Folliculitis, Sparse eyebrow, Epidermoid cyst, Nail dystrophy... OMIM:167210
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Otitis media, Erythroid hypoplasia, Hy... OMIM:612541
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer, Fine hair, Abnormal fingernail morphology, Keratoconjunctivitis sicca, Abnormality of... ORPHA:1806
Glycosylphosphatidylinositol Biosynthesis Defect 25
Short stature, Coarse hair, Sparse hair OMIM:619985
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Vitiligo, Recurrent aphthous stomatitis, Decreased circulating I... ORPHA:275
Ichthyosis, Annular Epidermolytic, 2
Erythema, Skin erosion, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperk... OMIM:620148
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Ifap Syndrome 2
Ichthyosis follicularis, Atrichia, Posterior blepharitis, Keratitis, Perioral erythema, Nail dyst... OMIM:619016
Brooke-Spiegler Syndrome
Skin nodule, Skin-colored papule, Skin ulcer, Nodular changes affecting the eyelids ORPHA:79493
Isolated Follicle Stimulating Hormone Deficiency
Sparse pubic hair, Male hypogonadism, Delayed menarche, Azoospermia, Decreased female libido, Spa... ORPHA:52901
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Micropenis, Hypospadias, Hypercalcemia, Cryptorchidism OMIM:614732
Peeling Skin Syndrome 5
Hyperkeratosis, Scaling skin OMIM:617115
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Generalized hypotrichosis, Sparse eyebrow, Palmoplantar keratoderma, Absent hair, Trichorrhexis n... ORPHA:1010
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Trichorrhexis nodosa, Decreased fertility, Concave nail, Nail dystrophy, Sparse eyela... OMIM:234050
Amelo-Onycho-Hypohidrotic Syndrome
Fine hair, Abnormal fingernail morphology, Dry skin, Hypoplastic toenails, Onycholysis, Hyperkera... ORPHA:1028
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Dry skin, Short stature, Sparse hair, Secondary amenorrhea, Hypergonadotropic hypogonadism OMIM:268020
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Alopecia, Sparse body hair, Dry skin, Short stature, Growth delay ORPHA:177
Hydroa Vacciniforme
Papulovesicular eruption, Erythema, Keratitis, Eczematoid dermatitis, Malar rash, Superficial der... ORPHA:330058
Allergic Bronchopulmonary Aspergillosis
Abnormal fingernail morphology, Abnormal eosinophil morphology, Bronchiectasis ORPHA:1164
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Macro... ORPHA:3077
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Pseudohypoparathyroidism Type 1C
Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Polyphagia, Calci... ORPHA:79444
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Erythematous... OMIM:173200
Filippi Syndrome
Hypertrichosis, Postnatal growth retardation, Intrauterine growth retardation, Frontal hirsutism,... OMIM:272440
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Buerger Disease
Skin ulcer ORPHA:36258
Noonan Syndrome 8
Eczematoid dermatitis, Palmoplantar cutis laxa, Hyperpigmentation of the skin, Curly hair, Hyperk... OMIM:615355
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent otitis media, Decreased circulating antibody level, Autoimmunity, Splenomega... ORPHA:397596
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Inflammation of the large intestine, Partial absence of specif... OMIM:618108
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Cholera
Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Lymphopenia, Decrease... OMIM:616100
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Hatipoglu Immunodeficiency Syndrome
Hyperpigmented/hypopigmented macules, Atopic dermatitis, Thickened skin, Eczematoid dermatitis, F... OMIM:620331
Bullous Pemphigoid
Erythema, Eczematoid dermatitis, Anti-BP180 antibody positivity, Psoriasiform dermatitis, Autoimm... ORPHA:703
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Autosomal Dominant Hypocalcemia
Depression, Hyperphosphatemia, Hypomagnesemia, Emotional lability, Hypocalcemia ORPHA:428
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Lupus anticoagulant, Antinuclear antibody positivity, Thrombocytopenia, C... OMIM:616744
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Alopecia, Antineutrophil antibody positivity, Microangiopathic hem... ORPHA:93552
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia, Cryptorchidism OMIM:618440
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple... ORPHA:449427
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Preauricular pit, Sparse hair, Sacral dimple OMIM:273390
Rapp-Hodgkin Syndrome
Sparse hair, Sparse eyebrow, Palmoplantar keratoderma, Small nail, Decreased number of sweat glan... OMIM:129400
Interstitial Granulomatous Dermatitis With Arthritis
Papule, Erythema, Rheumatoid arthritis, Inflammatory abnormality of the skin, Rheumatoid factor p... ORPHA:79099
Hypotrichosis 14
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes OMIM:618275
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Erythema, Recurrent pneumonia, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Cutaneou... OMIM:147060
Lymphatic Filariasis
Lymphadenitis, Hypereosinophilia, Orchitis, Knee osteoarthritis, Hyperpigmentation of the skin, G... ORPHA:2035
Griscelli Syndrome
Silver-gray hair, Iris hypopigmentation, Bone marrow hypocellularity, Hypopigmented skin patches,... ORPHA:381
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Skin rash, Thrombocytopenia, Neutropenia, Anemia, Conjunctivitis OMIM:603552
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Trichothiodystrophy 3, Photosensitive
Congenital ichthyosiform erythroderma, Trichorrhexis nodosa, Lymphopenia, Tiger tail banding, Ich... OMIM:616395
Loeffler Endocarditis
Eosinophilia, Pericarditis ORPHA:75566
Cardiofaciocutaneous Syndrome 4
Multiple lentigines, Alopecia of scalp, Sparse eyelashes, Palmoplantar hyperkeratosis, Absent eye... OMIM:615280
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... ORPHA:88618
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Aicardi-Goutieres Syndrome 5
Increased circulating interferon-gamma concentration, Dry skin, Chilblains, Scaling skin, Thrombo... OMIM:612952
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Self-injurious behavior, Sparse eyebrow, Aggressive behavior, Hyposegmentation of neutrophil nucl... OMIM:620075
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Timothy Syndrome
Hypocalcemia OMIM:601005
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Skin rash, Thromb... OMIM:618963
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Hypocalcemia, Cryptorchidism, Micropenis, Hypospadias OMIM:607143
Catastrophic Antiphospholipid Syndrome
Anticardiolipin IgG antibody positivity, Skin ulcer, Microangiopathic hemolytic anemia, Systemic ... ORPHA:464343
Acrofacial Dysostosis, Palagonia Type
Sparse lateral eyebrow, Dermal atrophy, Thin eyebrow, Sparse eyelashes, Low anterior hairline, Ap... ORPHA:1787
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Anorexia, General... ORPHA:2930
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Acquired Purpura Fulminans
Macular purpura, Macule, Thrombocytopenia, Pyoderma gangrenosum, Erythematous macule ORPHA:49566
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Hypophosphatasia
Hypercalcemia, Irritability ORPHA:436
Infantile Digital Fibromatosis
Skin nodule, Parakeratosis, Hyperkeratosis ORPHA:199267
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteomyelitis, Splenomegaly, Skin rash, Abscess, Pustule, Neutrophilia, Hyperkeratosis, Stomatitis OMIM:612852
Bleeding Disorder, Platelet-Type, 21
Alopecia, Eczematoid dermatitis, Psoriasiform dermatitis, Impaired ADP-induced platelet aggregati... OMIM:617443
Reynolds Syndrome
Irregular hyperpigmentation, Skin ulcer, Skin rash, Infectious encephalitis, Keratoconjunctivitis... ORPHA:779
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulati... ORPHA:94093
Rothmund-Thomson Syndrome
Sparse eyebrow, Hypopigmentation of the skin, Aplastic anemia, Small nail, Porokeratosis, Alopeci... ORPHA:2909
Lelis Syndrome
Yellow nails, Sparse lateral eyebrow, Vitiligo, Perioral hyperpigmentation, Nail dystrophy, Abnor... ORPHA:140936
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Dry skin, Intrauterine growth retardatio... ORPHA:217346
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Q Fever
Hepatosplenomegaly, Increased circulating antibody level, Lupus anticoagulant, Antiphospholipid a... ORPHA:781
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Congenital Short Bowel Syndrome
Short stature, Sparse hair ORPHA:2301
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia ORPHA:94059
Even-Plus Syndrome
Atopic dermatitis, Highly arched eyebrow, Aplasia cutis congenita, Sparse hair, Synophrys OMIM:616854
Ramon Syndrome
Generalized hirsutism, Hyperkeratosis, Abnormality of retinal pigmentation ORPHA:3019
Alveolar Echinococcosis
Cutaneous abscess, Increased circulating antibody level, Eosinophilia, Abnormal spleen morphology... ORPHA:284
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Superficial Epidermolytic Ichthyosis
Erythema, Acantholysis, Palmoplantar keratoderma, Thin skin ORPHA:455
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased circulating interf... ORPHA:540
Takayasu Arteritis
Skin ulcer, Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis, Anor... ORPHA:3287
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Hyperkeratosis OMIM:613943
Tooth Agenesis, Selective, 4
Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Dry skin, Dystrophic fin... OMIM:150400
Adult Syndrome
Alopecia, Toenail dysplasia, Absent nipple, Skin ulcer, Fine hair, Breast hypoplasia, Melanocytic... ORPHA:978
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma, Generalized hyperkeratosis OMIM:133200
Cutaneous Small Vessel Vasculitis
Erythema, Papule, Skin rash, Subcutaneous nodule, Recurrent skin infections, Purpura ORPHA:889
Gracile Bone Dysplasia
Micropenis, Hypocalcemia OMIM:602361
Sanjad-Sakati Syndrome
Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia, Cryptorchidism ORPHA:2323
Shukla-Vernon Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Sparse hair, Motor stereotypy, Imp... OMIM:301029
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Dry skin, Ichthyosis, Scaling skin, Hyperkeratosis, Congenital nonbullous ichthyosiform... OMIM:614457
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Congenital Ichthyosiform Erythroderma
Alopecia, Palmoplantar keratoderma, Keratitis, Ichthyosis, Erythroderma, Pruritus, Abnormality of... ORPHA:79394
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612783
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Alopecia, Increased mean corpuscular volume, Aplastic anemia, Premat... OMIM:127550
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Verrucous papule, Sparse scalp hair ORPHA:2611
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Sparse lateral eyebrow, Periorbital wrinkles, Sparse body hair, Dry skin, Sparse e... OMIM:614941
Hoyeraal-Hreidarsson Syndrome
Bone marrow hypocellularity, Generalized hypopigmentation of hair, Premature graying of hair, Der... ORPHA:3322
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Hyperkeratosis OMIM:136630
Neutrophilic Dermatosis, Acute Febrile
Erythema, Increased circulating interleukin 6 concentration, Acne inversa, Panniculitis, Pyoderma... OMIM:608068
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,... OMIM:152700
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Familial Multiple Nevi Flammei
Papule, Skin ulcer, Hypermelanotic macule, Nevus flammeus ORPHA:624
Rhabdoid Tumor
Hypercalcemia, Irritability ORPHA:69077
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Hereditary Mucoepithelial Dysplasia
Alopecia, Sparse hair, Hyperkeratosis, Fine hair ORPHA:1839
Primary Sjögren Syndrome
Arteritis, Lymphopenia, Dry skin, Chronic hepatitis, Decreased proportion of CD4-positive helper ... ORPHA:289390
Acquired Hypertrichosis Lanuginosa
Thickened skin, Fine hair, Abnormal eyebrow morphology, Ichthyosis, Generalized hirsutism, Acanth... ORPHA:2221
Systemic Sclerosis
Thickened skin, Digital ulcer, Glomerulonephritis, Digital pitting scar, Recurrent skin infection... ORPHA:90291
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micropenis, Hypoproteinemia, Hypocalcemia, Cryptorchidism OMIM:235255
Costello Syndrome
Abnormal hair morphology, Abnormal fingernail morphology, Generalized hyperpigmentation, Redundan... ORPHA:3071
Macrophage Activation Syndrome
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... ORPHA:158061
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Periodontitis, Hemophagocy... OMIM:214500
Alopecia Universalis
Atopic dermatitis, Alopecia universalis, Vitiligo, Psoriasiform dermatitis, Autoimmunity, Absent ... ORPHA:701
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a... ORPHA:906
Harlequin Ichthyosis
Self-injurious behavior, Congenital ichthyosiform erythroderma, Ichthyosis, Erythroderma, Hyperke... ORPHA:457
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Hyperkeratosis, Skin ulcer, Penetrating foot ulcers ORPHA:36386
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Irritability ORPHA:289157
Autoimmune Hepatitis
Antineutrophil antibody positivity, Inflammation of the large intestine, Vitiligo, Splenomegaly, ... ORPHA:2137
Syndromic Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Acute leukemia, Hyperkeratosis, Ichthyosis ORPHA:281090
Adiposis Dolorosa
Sparse pubic hair, Dry skin, Autoimmunity, Sparse axillary hair, Arthritis, Subcutaneous nodule, ... ORPHA:36397
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia, Irritability ORPHA:292
Mitochondrial Complex I Deficiency, Nuclear Type 33
Aspiration pneumonia, Neutropenia, Sparse hair, Dysphagia, Bronchiectasis OMIM:618253
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Trichiasis, Sparse eyebrow, Keratitis, Nail dystrophy, Ichthyosis, Sparse eyelashes, Nail dysplas... OMIM:148210
Immunodeficiency 110 With Lymphoproliferation
Recurrent pneumonia, Chronic mucocutaneous candidiasis, Molluscum contagiosum, Lymphopenia, Disse... OMIM:614868
Chronic Actinic Dermatitis
Allergic rhinitis, Erythematous papule, Hypopigmented skin patches, Eczematoid dermatitis, Progre... ORPHA:330064
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Pallor, Leukocytosis, Splenomegaly, Thrombocytopenia... ORPHA:3226
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Abnormal number of dense granules, Impaired platelet aggregation, A... OMIM:614072
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Centrifugal Lipodystrophy
Erythema, Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Scaling skin ORPHA:90156
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Blepharocheilodontic Syndrome 1
High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Aplasia cutis congenita over th... OMIM:119580
Absence Of Fingerprints-Congenital Milia Syndrome
Thickened skin, Milia, Skin rash, Thin skin ORPHA:1658
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Menkes Disease
Alopecia, Intrauterine growth retardation, Cutis laxa, Brittle hair, Short stature, Sparse hair OMIM:309400
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Meige Disease
Atypical scarring of skin, Skin erosion, Skin ulcer, Cobblestone-like hyperkeratosis, Recurrent s... ORPHA:90186
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Cardiofaciocutaneous Syndrome 2
Sparse hair, Absent eyebrow, Fine hair, Curly hair OMIM:615278
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulatin... OMIM:300291
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Thickened skin, Hypopigmentation of the skin, Nevus, White hair, Ocular al... ORPHA:79435
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Impai... OMIM:614576
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Sinusitis, Neutropenia, ... ORPHA:33110
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Ecchymosis, Reticulocytopenia, Neutropenia, Thrombocyt... ORPHA:88
Kikuchi-Fujimoto Disease
Erythema, Pustule, Neutropenia, Anorexia, Skin plaque, Alopecia, Malar rash, Macule, Anemia, Papu... ORPHA:50918
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmunity, Sple... OMIM:616005
Cortisone Reductase Deficiency 1
Alopecia, Acne, Hirsutism OMIM:604931
Dermatoosteolysis, Kirghizian Type
Keratitis, Dystrophic toenail, Skin ulcer, Dystrophic fingernails, Aplasia/Hypoplasia of the skin... ORPHA:1657
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hypergranulosis, Erythroderma, Hyperkeratosis, Congenital nonbullous ichthyosifor... OMIM:615023
Juvenile Nephropathic Cystinosis
Hypouricemia, Polydipsia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... ORPHA:411634
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Microscopic Polyangiitis
Erythema, Uveitis, Skin ulcer, Autoimmunity, Episcleritis, Skin rash, Increased inflammatory resp... ORPHA:727
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Erythema, Palmoplantar keratoderma, Periodontitis... ORPHA:2908
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Acanthosis nigricans, Hypopigmentation of the skin, Polyphagia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Acanthosis nigricans, Hypopigmentation of the skin, Polyphagia ORPHA:71526
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei OMIM:260570
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Verrucous epidermal nevus, Woolly scalp hair,... ORPHA:79414
Pseudohypoparathyroidism Type 1A
Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Polyphagia, Calci... ORPHA:79443
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Thickened skin, Hypopigmentation of the skin, Ocular albinism, Partial alb... ORPHA:79430
Flynn-Aird Syndrome
Dermal atrophy, Alopecia, Skin ulcer ORPHA:2047
Intellectual Developmental Disorder, Autosomal Recessive 5
Thick eyebrow, Sparse hair, Eczematoid dermatitis, Synophrys OMIM:611091
Anauxetic Dysplasia 2
Small nail, Intrauterine growth retardation, Nail dysplasia, Short stature, Sparse hair OMIM:617396
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Antineutrophil antibody positivity,... OMIM:301078
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Inappropriate laughter, Hypocalcemia OMIM:618476
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot... OMIM:620210
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Depigmentation/hyperpigmentation of skin, Alopecia, Hypopigmentation of the skin, Palmoplantar ke... ORPHA:79396
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Johnson Neuroectodermal Syndrome
Severe short stature, Alopecia, Hypogonadism, Absent eyelashes, Multiple cafe-au-lait spots, Abse... ORPHA:2316
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Juvenile Dermatomyositis
Erythema, Alopecia, Skin ulcer, Dry skin, Autoimmunity, Skin rash, Myositis, Arthritis, Pruritus,... ORPHA:93672
Hereditary Spherocytosis
Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary... ORPHA:822
Igg4-Related Ophthalmic Disease
Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Orchitis, Antinucle... ORPHA:449563
Chromosome Xq27.3-Q28 Duplication Syndrome
Short stature, Intrauterine growth retardation, Hypogonadism, Sparse body hair OMIM:300869
Cushing Disease
Skin ulcer, Lymphopenia, Striae distensae, Leukocytosis, Hirsutism, Ecchymosis, Recurrent cutaneo... ORPHA:96253
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Mixed-Type Autoimmune Hemolytic Anemia
Systemic lupus erythematosus, Autoimmunity, Pallor, Skin rash, Autoimmune hemolytic anemia ORPHA:90036
Sarcoidosis
Alopecia, Hypopigmentation of the skin, Bronchiectasis, Skin nodule, Parotitis, Leukopenia, Skin ... ORPHA:797
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Velocardiofacial Syndrome
Aggressive behavior, Emotional lability, Cryptorchidism, Hypocalcemia OMIM:192430
Polyarteritis Nodosa
Erythema, Subcutaneous nodule, Skin ulcer ORPHA:767
Werner Syndrome
Abnormal hair whorl, Skin ulcer, Premature graying of hair, White forelock, Abnormality of retina... ORPHA:902
Trichohepatoenteric Syndrome 2
Sparse hair, Trichorrhexis nodosa, Intrauterine growth retardation, Uncombable hair, Brittle hair... OMIM:614602
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Micropenis, Self-mutilation, Irritability OMIM:619487
Zika Virus Disease
Myelitis, Retinal pigment epithelial mottling, Skin rash, Maculopapular exanthema, Infectious enc... ORPHA:448237
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Reduced hair sulfur content, Intrauterine growth retardation, Tiger tail banding,... OMIM:300953
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Mhc Class I Deficiency 1
Skin ulcer OMIM:604571
Ectodermal Dysplasia/Short Stature Syndrome
Palmoplantar keratoderma, Nail dystrophy, Anonychia, Hyperkeratosis, Dysphagia OMIM:616029
Graft Versus Host Disease
Pneumonia, Skin erosion, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute... ORPHA:39812
Cardiofaciocutaneous Syndrome
Palmoplantar keratoderma, Fine hair, Multiple lentigines, Dry skin, Aplasia/Hypoplasia of the eye... ORPHA:1340
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Thickened skin, Hypopigmentation of the skin, Ocular albinism, Freckling, ... ORPHA:79431
Nephronophthisis 9
Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Renal c... OMIM:613824
Congenital Disorder Of Glycosylation, Type If
Dry skin, Erythroderma, Hyperkeratosis, Scaling skin OMIM:609180
Vexas Syndrome
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti... OMIM:301054
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Hereditary Acrokeratotic Poikiloderma
Erythema, Irregular hyperpigmentation, Dystrophic toenail, Hypopigmented skin patches, Eczematoid... ORPHA:2907
Leprosy
Alopecia, Uveitis, Sparse body hair, Hypopigmented macule, Abnormality of the spleen, Urticarial ... ORPHA:548
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Arthritis, Erythema nodosum OMIM:611762
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
46,Xy Sex Reversal 11
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... OMIM:273250
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Atrophic scars, Follicular hyperkeratosis ORPHA:300179
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Inappropriate laughter, Polyphagia, Hyperact... ORPHA:411515
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse body hair, Dermal atrophy, Absent eyelashes, Absent eyebrow, Sparse scalp hair ORPHA:69735
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Petechiae, Anemia, ... OMIM:612840
Mixed Connective Tissue Disease
Alopecia, Leukopenia, Autoimmunity, Skin rash, Splenomegaly, Scleroderma, Myositis, Purpura, Gast... ORPHA:809
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Frontal upsweep of hair, ... OMIM:301220
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse eyelashes, Absent eyelashes, Absent eyebrow, Freckling, Membranoproliferative gl... OMIM:137940
Bullous Impetigo
Pustule, Erythema, Septic arthritis, Recurrent bacterial skin infections ORPHA:36237
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Thickened skin, Hepatitis, Psoriasiform dermatitis, Alopecia of scalp, Autoim... ORPHA:436252
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Eczematoid dermatitis, Multiple lentigines, Long eyelashes, Ichthyosis, Attent... OMIM:607721
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosifo... OMIM:606545
Ectodermal Dysplasia-Skin Fragility Syndrome
Alopecia universalis, Cheilitis, Recurrent pneumonia, Palmoplantar keratoderma, Chapped lip, Recu... ORPHA:158668
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Pustule, Synovit... ORPHA:77297
Porokeratosis 3, Multiple Types
Parakeratosis, Nail dystrophy, Porokeratosis OMIM:175900
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short stature, Hypogonadism, Decreased fertility, Sparse body hair ORPHA:2234
Cardiofaciocutaneous Syndrome 1
Atopic dermatitis, Multiple lentigines, Splenomegaly, Ichthyosis, Absent eyelashes, Low posterior... OMIM:115150
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia OMIM:617913
Cartilage-Hair Hypoplasia
Sparse eyebrow, Fair hair, Fine hair, Lymphopenia, Macrocytic anemia, Sparse eyelashes, Sparse fa... OMIM:250250
Naxos Disease
Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Nail dystro... OMIM:601214
Celiac Disease, Susceptibility To, 1
Depression, Hypocalcemia OMIM:212750
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent nipple, Absent hair, Dry skin, Brittle hair, Sparse hair OMIM:614940
Epidermolytic Hyperkeratosis 1
Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Erythroderma, Scaling... OMIM:113800
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... 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
Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo... ORPHA:35078
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
X-Linked Hypohidrotic Ectodermal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair ORPHA:181
Onychotrichodysplasia And Neutropenia
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... OMIM:258360
Beta-Thalassemia Intermedia
Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... ORPHA:231222
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse eyebrow, Absent nipple, Eczematoid dermatitis, Fine hair, Sparse body hair, Periorbital wr... OMIM:305100
Holocarboxylase Synthetase Deficiency
Perioral eczema, Alopecia, Eczematoid dermatitis, Keratoconjunctivitis, Thrombocytopenia, Anorexia ORPHA:79242
Neuropathy, Hereditary Sensory, Type If
Osteomyelitis, Hyperkeratosis OMIM:615632
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Hyperactivity, Fine hair OMIM:300406
Immunodeficiency 55
Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Dry skin, Ichthyosis, Neutropeni... OMIM:617827
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Nail dysplasia OMIM:615704
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Polyphagia, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Abnormality of the n... OMIM:607823
Cryoglobulinemic Vasculitis
Skin ulcer, Viral hepatitis, Splenomegaly, Petechiae, Cryoglobulinemia, Keratoconjunctivitis sicc... ORPHA:91138
Free Sialic Acid Storage Disease
Splenomegaly, Skin ulcer ORPHA:834
Toxic Epidermal Necrolysis
Erythema, Polydipsia, Skin ulcer, Pancreatitis, Macule, Thrombocytopenia, Neutropenia, Anemia, Co... ORPHA:537
Mucopolysaccharidosis-Plus Syndrome
Thickened skin, Bone marrow hypocellularity, Coarse hair, Nephritis, Recurrent pneumonia, Leukope... OMIM:617303
Auriculocondylar Syndrome 2B
Postnatal growth retardation, Sparse hair, Preauricular skin tag, Synophrys OMIM:620458
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly, Increased circulating antibody level ORPHA:100024
Chondrodysplasia Punctata, Autosomal Dominant
Hyperkeratosis with erythema, Sparse hair, Moderate postnatal growth retardation, Coarse hair OMIM:118650
Majeed Syndrome
Inflammatory abnormality of the skin, Microcytic anemia, Osteomyelitis, Hepatosplenomegaly, Eryth... OMIM:609628
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
2Q32Q33 Microdeletion Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Sparse hair, Fine hair ORPHA:251019
Cardiocranial Syndrome, Pfeiffer Type
Abnormal hair whorl, Intrauterine growth retardation, Short stature, Sparse hair, Growth delay ORPHA:2872
Ethylene Glycol Poisoning
Addictive alcohol use, Euphoria, Hyperkalemia, Hypocalcemia ORPHA:31826
Adult Syndrome
Absent nipple, Eczematoid dermatitis, Fair hair, Breast hypoplasia, Dry skin, Dermal atrophy, Alo... OMIM:103285
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Skin rash, Increased proportion of CD4-positive T cells, Increased circulating IgA ... OMIM:617099
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Familial Peripheral Male-Limited Precocious Puberty
Abnormal hair morphology, Attention deficit hyperactivity disorder, Acne ORPHA:3000
Irida Syndrome
Hyperkeratosis, Ichthyosis, Pallor ORPHA:209981
Simple Cryoglobulinemia
Nephritis, Monoclonal immunoglobulin M proteinemia, Localized skin lesion, Rheumatoid factor posi... ORPHA:91139
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Skin rash, Splenomegaly, Increased circulating antibody level, Myositis, Sinusitis, ... OMIM:617591
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Granuloma, Eczematoid dermatitis, Lymphadenitis, Lymphop... OMIM:618935
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair OMIM:615279
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Seborrheic dermatitis, Thrombocytopenia, Anemia, ... OMIM:274000
Mycosis Fungoides
Erythema, Eczematoid dermatitis, Psoriasiform dermatitis, Skin plaque, Pruritus OMIM:254400
Darier-White Disease
Palmar pits, Plantar pits, Hypermelanotic macule, Ridged nail, Subungual hyperkeratotic fragments... OMIM:124200
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Severe short stature, Alopecia, Moderate postnatal growth retardation, Intrauterine growth retard... ORPHA:1005
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Hypogonadism, Nail d... ORPHA:3253
Chromosome 19Q13.11 Deletion Syndrome, Distal
Aplasia cutis congenita of scalp, Sparse eyebrow, Postnatal growth retardation, Intrauterine grow... OMIM:613026
Intellectual Developmental Disorder, Autosomal Dominant 54
Eczematoid dermatitis, Dry skin, Bruxism, Aggressive behavior, Thin nail, Neutropenia, Sparse hair OMIM:617799
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Leukopenia... OMIM:613989
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Cutis Laxa, Autosomal Recessive, Type Iiib
Fine hair, Intrauterine growth retardation, Excessive wrinkled skin, Cutis laxa, Dermal transluce... OMIM:614438
Rothmund-Thomson Syndrome Type 1
Hypopigmentation of the skin, Aplastic anemia, Porokeratosis, Alopecia totalis, Dermal atrophy, S... ORPHA:221008
Hereditary Elliptocytosis
Stomatocytosis, Skin ulcer, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Reticul... ORPHA:288
Protoporphyria, Erythropoietic, 1
Erythema, Pruritus, Hemolytic anemia, Eczematoid dermatitis OMIM:177000
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Abnormal circulating porphyrin concentration, Hyponat... ORPHA:100924
Autoinflammatory-Pancytopenia Syndrome
Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Chilblains, Intestinal inflammatio... OMIM:619858
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia, Irritability OMIM:259720
Alg12-Cdg
Hypoalbuminemia, Hypocholesterolemia, Cryptorchidism, Hyponatremia, Micropenis, Hypospadias ORPHA:79324
Eem Syndrome
Absent eyebrow, Sparse scalp hair, Sparse body hair ORPHA:1897
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Short stature, Sparse axillary hair, Intrauterine growth retardation, Sparse facial hair OMIM:608154
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Hyperactivity, Cryptorchidism OMIM:235510
Fixed Drug Eruption
Erythema, Skin detachment, Skin erosion, Erythematous plaque, Crusting erythematous dermatitis, H... ORPHA:293812
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... OMIM:300835
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Alopecia, Decreased circulating complement factor B concentration, Systemic... ORPHA:2298
Garg-Mishra Progeroid Syndrome
Small nail, Postnatal growth retardation, Short stature, Sparse hair, Cafe-au-lait spot OMIM:620601
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism, Leukopenia, Abnormal platelet aggregation, Thrombo... OMIM:614171
Intellectual Developmental Disorder, Autosomal Dominant 65
Thin eyebrow, Low posterior hairline, Aggressive behavior, Attention deficit hyperactivity disord... OMIM:619320
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Irritability, Anorexia OMIM:241500
Desbuquois Syndrome
Severe short stature, Abnormal eyelash morphology, Sparse hair, Disproportionate short-limb short... ORPHA:1425
Obesity And Hypopigmentation
Red hair, Polyphagia OMIM:620195
Granulomatosis With Polyangiitis
Keratitis, Skin ulcer, Episcleritis, Cytoplasmic antineutrophil antibody positivity, Granulomatos... OMIM:608710
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Autosomal Erythropoietic Protoporphyria
Microcytic anemia, Erythema, Pruritus, Eczematoid dermatitis ORPHA:79278
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Malar rash, Psoria... ORPHA:85436
Kaposi Sarcoma
Papule, Skin nodule, Abnormality of the spleen, Skin rash, Macule, Skin plaque, Hypermelanotic ma... ORPHA:33276
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Depression, Hypercalcemia OMIM:600740
Immunodeficiency 96
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... OMIM:619774
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Eczematoid dermatitis, Dry skin, Long eyelashes, Elbow hypertrichosis, Aggressive behavior, Pica OMIM:620191
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Agel Amyloidosis
Diffuse skin atrophy, Dry skin, Nail dystrophy, Abnormal spleen morphology, Keratoconjunctivitis ... ORPHA:85448
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Granuloma, Interface hepatitis, Sclerosing cholangitis, Anti... ORPHA:562639
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Atopic dermatitis, Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Palmop... OMIM:225060
Eec Syndrome
Sparse eyebrow, Coarse hair, Blepharitis, Keratitis, Fine hair, Nevus, Dry skin, Thick eyebrow, N... ORPHA:1896
Pseudohypoparathyroidism, Type Ia
Hypogonadism, Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Infantile Myofibromatosis
Abnormal hair morphology, Subcutaneous nodule, Irregular hyperpigmentation, Skin ulcer ORPHA:2591
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Long eyelashes, Thick eyebrow, Hirsutism, Low anterior hairline, Sparse hair OMIM:616819
Cutis Laxa, Autosomal Recessive, Type Iiia
Intrauterine growth retardation, Cutis laxa, Short stature, Sparse hair, Thin skin OMIM:219150
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Lymphatic Malformation 4
Toenail dysplasia, Hyperkeratosis OMIM:615907
Trichorhinophalangeal Syndrome, Type Iii
Sparse lateral eyebrow, Fine hair, Short stature, Sparse hair, Epidermal hyperkeratosis OMIM:190351
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration, Dysphagia ORPHA:85443
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Donohue Syndrome
Hypertrichosis, Nail dysplasia, Acanthosis nigricans, Hypermelanotic macule, Hyperkeratosis OMIM:246200
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Dry skin, Ichthyosis, Parakeratosis, Acanthosis nigricans, Hyperkeratosis OMIM:618527
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Dry skin, Attention deficit hyperactivity disorder, Motor stereotypy, Nail dystrophy OMIM:620502
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Skin ulcer, Osteomyelitis, Leukocytosis, Rectal... OMIM:116920
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Decreased circula... OMIM:301081
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Fine hair, Intrauterine growth retardation, Delayed puberty, Short stature, Sparse hair, Growth d... OMIM:616817
Hermansky-Pudlak Syndrome 2
Albinism, Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged platele... OMIM:608233
Igg4-Related Thyroid Disease
Dysphagia, Hypocalcemia ORPHA:64744
Adult-Onset Still Disease
Bone marrow hypocellularity, Erythema, Hepatitis, Leukocytosis, Skin rash, Splenomegaly, Intersti... ORPHA:829
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Cutaneous Collagenous Vasculopathy
Erythema, Petechiae, Skin rash, Macule, Pruritus ORPHA:280779
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Hypergonadotropic hypogonadism OMIM:212065
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Fine hair, Intrauterine growth retardation, Proportionate short stature, Low anterior hairline, S... ORPHA:391408
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Autoimmune hemo... ORPHA:100026
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Highly arched eyebrow, Eczematoid dermatitis, Stereotypical hand wringin... OMIM:600430
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Familial Benign Copper Deficiency
Anemia, Early balding, Acne ORPHA:1551
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi... ORPHA:35858
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Dysphagia OMIM:254900
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Abnormality of iro... OMIM:222470
Pneumocystosis
Interstitial pneumonitis, Increased circulating antibody level, Acute infectious pneumonia, Abnor... ORPHA:723
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Palmoplantar hyperkeratosis, Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma ORPHA:2698
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hydrocele testis, Hyperlipidemia ORPHA:567546
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Trichinellosis
Increased circulating IgE level, Conjunctivitis, Dysphagia, Skin rash ORPHA:863
Hyper-Igd Syndrome
Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, ... OMIM:260920
Letterer-Siwe Disease
Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia OMIM:246400
Mandibuloacral Dysplasia
Alopecia, Hypoplastic fingernail, Postnatal growth retardation, Sparse hair, Thin skin ORPHA:2457
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia OMIM:618329
Cranioectodermal Dysplasia
Abnormal fingernail morphology, Rhizomelia, Sparse hair, Abnormal toenail morphology ORPHA:1515
Xeroderma Pigmentosum
Thickened skin, Alopecia, Erythema, Keratitis, Hypopigmented skin patches, Dry skin, Melanocytic ... ORPHA:910
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Coarse hair, Postnatal growth retardation, Intrauterine growth retardation, Redundant skin, Redun... ORPHA:357074
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia, Polydipsia OMIM:617994
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Anorexia... ORPHA:1304
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Thickened skin, Erysipelas, Skin ulcer, Abnormal hair morphology, Dry skin, Leukonychia, Abnormal... ORPHA:2526
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Thickened skin, Generalized hypopigmentation of hair, White eyebrow, White... ORPHA:352731
Revesz Syndrome
Bone marrow hypocellularity, Ridged fingernail, Aplastic anemia, Fine hair, Nail dystrophy, Macro... OMIM:268130
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Sparse pubic hair, Male hypogonadism, Azoospermia, Sparse axillary hair, Hypogonadotropic hypogon... OMIM:228300
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia OMIM:314000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Pelger-Huet Anomaly
Giant platelets, Eczematoid dermatitis, Recurrent otitis media, Hyposegmentation of neutrophil nu... OMIM:169400
Rothmund-Thomson Syndrome Type 2
Erythema, Hypopigmentation of the skin, Aplastic anemia, Porokeratosis, Alopecia totalis, Dermal ... ORPHA:221016
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypogonadism, Hypoplastic nipples, Sparse hair, Small nail OMIM:273400
Milroy Disease
Toenail dysplasia, Hyperkeratosis, Erysipelas ORPHA:79452
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Adams-Oliver Syndrome
Alopecia, Hypoplastic fingernail, Leukopenia, Aplasia/Hypoplasia of the skin, Aplastic/hypoplasti... ORPHA:974
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Highly arched eyebrow, Generalized hirsutism, Polyphagia, Paroxysmal bur... ORPHA:228402
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis OMIM:120100
Macs Syndrome
Alopecia, Sparse eyebrow, Recurrent aphthous stomatitis, Redundant skin, Ichthyosis, Cutis laxa, ... OMIM:613075
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Oral-pharyngeal dysphagia, Neutropenia, Anorexia, Atypical ... ORPHA:95455
Nicolaides-Baraitser Syndrome
Preauricular skin tag, Dry hair, Eczematoid dermatitis, Periorbital wrinkles, Sparse medial eyebr... OMIM:601358
Systemic Lupus Erythematosus
Discoid lupus rash, Antineutrophil antibody positivity, Alopecia, Anorexia, Decreased circulating... ORPHA:536
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Polydipsia, H... OMIM:248250
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Onychogryposis OMIM:167200
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Uncombable hair ORPHA:1264
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Postnatal growth retardation, Intrauterine growth retardati... OMIM:612199
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Low posterior hairline, Compulsive behaviors, Sparse hair, Motor stereotypy OMIM:613174
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis ORPHA:486815
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr... OMIM:619693
Arthrogryposis And Ectodermal Dysplasia
Trichiasis, Atypical scarring of skin, Dry skin, Nail dysplasia, Trichodysplasia, Absent eyebrow,... OMIM:601701
Epidermodysplasia Verruciformis
Papule, Hypopigmented skin patches, Pustule, Seborrheic dermatitis, Multiple cafe-au-lait spots, ... ORPHA:302
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Inappropriate laughter, Abnormal eating beha... ORPHA:411511
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent aphthous stomatitis, Comple... OMIM:615468
American Trypanosomiasis
Localized skin lesion, Pallor, Skin rash, Splenomegaly, Infectious encephalitis, Myocarditis, Aut... ORPHA:3386
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Ebola Hemorrhagic Fever
Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Dysphagia, Thrombocytop... ORPHA:319218
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Small scrotum, Fixated interests, Emotional lability, Hypocalcemia, Hair... OMIM:620330
Chédiak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Hypopigmentation ... ORPHA:167
Viss Syndrome
Atopic dermatitis, Alopecia, Eczematoid dermatitis, Increased circulating IgE level, Chronic gast... OMIM:619472
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... ORPHA:90797
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Intrauterine growth retardation, Sparse hair, Nail dystrophy OMIM:616353
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Thickened skin, Hypopigmentation of the skin, Melanocytic nevus, Abnormali... ORPHA:79434
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Nail dystrophy, Chronic rhinitis, Parakeratosis, Follicular hyperkeratosis OMIM:615225
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer ORPHA:424019
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Proteasome-Associated Autoinflammatory Syndrome 1
Erythema, Increased circulating interleukin 8 concentration, Premature graying of hair, Microcyti... OMIM:256040
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Eczematoid dermatitis, Hyperconvex nail OMIM:619721
Poems Syndrome
Thickened skin, Abnormality of skin physiology, Polycythemia, Hypertrichosis, Leukonychia, Spleno... ORPHA:2905
Blau Syndrome
Posterior uveitis, Erythema, Keratitis, Skin ulcer, Dry skin, Skin rash, Splenomegaly, Ichthyosis... ORPHA:90340
Calciphylaxis
Skin ulcer ORPHA:280062
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Ichthyosis, Petechiae, Purpura, Dysphagia, Thrombocytopenia, An... OMIM:608013
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia, Cryptorchidism, Micropenis, Hypospadias ORPHA:163979
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Hypopigmentation of the skin, Chronic mucocuta... OMIM:242840
Rodrigues Blindness
Short stature, Sparse hair, Fine hair OMIM:268320
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Fanconi Anemia, Complementation Group S
Anemia, Long eyelashes, Sparse hair, Low anterior hairline OMIM:617883
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Aggressive behavior, Hyperactivity, Motor stereotypy, Synophrys ORPHA:391307
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Precocious puberty, Small scrotum, Bifid scrotum, Hypocholesterolemia, Septate v... OMIM:270400
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Skin ulcer, Hepa... ORPHA:231226
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Trichothiodystrophy
Dry skin, Neutropenia, Brittle hair, Split nail, Eczematoid dermatitis, Panhypogammaglobulinemia,... ORPHA:33364
Craniofacioskeletal Syndrome
Hypospadias, Hypocalcemia, Cryptorchidism OMIM:300712
Braddock-Carey Syndrome 1
Sparse hair, Thrombocytopenia, Curly hair OMIM:619980
Noonan Syndrome 14
Sparse eyebrow, Lymphopenia, Dry skin, Low posterior hairline, Curly hair, Sparse hair OMIM:619745
Immunodeficiency 59 And Hypoglycemia
High anterior hairline, Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous ... OMIM:233600
Syndromic Diarrhea
Panhypogammaglobulinemia, Trichorrhexis nodosa, Lymphopenia, Dry skin, Brittle hair, Splenomegaly... ORPHA:84064
Pachydermoperiostosis
Thickened skin, Palmoplantar keratoderma, Eczematoid dermatitis, Abnormal fingernail morphology, ... ORPHA:2796
Chime Syndrome
Erythema, Acute leukemia, Skin ulcer, Fine hair, Ichthyosis, Sparse hair, Hyperkeratosis ORPHA:3474
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Sparse body hair, Breast hypoplasia, Non-obstructive azoospermia, Azoospermia,... ORPHA:432
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
C3 Glomerulopathy
Paraproteinemia, Autoimmunity, Decreased circulating complement C4 concentration, Membranoprolife... ORPHA:329918
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse pubic hair, Alopecia, Sparse eyebrow, Impotence, Abnormal eyebrow morphology, Breast hypop... ORPHA:2232
Rat-Bite Fever
Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, O... ORPHA:31205
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Co... ORPHA:476126
Autoerythrocyte Sensitization Syndrome
Self-injurious behavior, Impaired platelet adhesion, Abnormal erythrocyte morphology, Erythematou... ORPHA:324636
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Polydipsia, Calcinosis OMIM:239200
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyebrow, Periorbital wrinkles, Sparse eyelashes, Periorbital hyperpigmentation, Sparse hair OMIM:224900
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
Granulomatosis With Polyangiitis
Skin ulcer, Autoimmunity, Skin rash, Otitis media, Increased inflammatory response, Prostatitis, ... ORPHA:900
Immunoglobulin A Vasculitis
Erythema, Skin ulcer, Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Macule... ORPHA:761
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Inflammatory abnormality of t... ORPHA:48435
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Sparse hair, Growth delay OMIM:610756
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Hypopigmentation of the skin, Ocular albinism, Melanocytic n... OMIM:203300
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Scleromyxedema
Thickened skin, Papule, Paraproteinemia, Skin-colored papule, Dysphagia, Pruritus, Sclerodactyly ORPHA:167635
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Mycetoma
Cutaneous cyst, Osteomyelitis, Cobblestone-like hyperkeratosis, Subcutaneous nodule, Recurrent ba... ORPHA:2583
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Dysphagia ORPHA:70472
Hypocomplementemic Urticarial Vasculitis
Irregular hyperpigmentation, Reduced circulating complement concentration, Autoimmunity, Episcler... ORPHA:36412
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Alopecia, Orthokeratosis, Small nail, Congenital ichthyosiform erythroderma, Nevus, Par... OMIM:308050
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Osteomyelitis, Nail dystrophy, Acral ulceration, Self-mutilation, Nail dysplasia, Hype... OMIM:256800
Bloom Syndrome
Pneumonia, Cheilitis, Uveitis, Hypopigmentation of the skin, Decreased circulating IgG level, Dec... ORPHA:125
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Small scrotum OMIM:613658
Monosomy 22
Thickened skin, Hepatosplenomegaly, Scleroderma, Aplasia of the thymus, Seborrheic dermatitis, Hy... ORPHA:96123
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ... OMIM:612260
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Eczematoid dermatitis, Lymphopenia, Leukopenia, Dry skin, Reticulocy... ORPHA:508542
Xp22.13P22.2 Duplication Syndrome
Attention deficit hyperactivity disorder, High anterior hairline, Sparse hair ORPHA:284180
Premature Aging Syndrome, Penttinen Type
Thickened skin, Keloids, Dermal atrophy, Palmoplantar hyperkeratosis, Skin nodule, Sparse hair, H... OMIM:601812
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Malakoplakia
Papule, Inflammatory abnormality of the skin, Skin ulcer, Urinary bladder inflammation, Skin rash... ORPHA:556
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Blue irides, Hyperactivity OMIM:614613
Blue Rubber Bleb Nevus
Microcytic anemia, Subcutaneous nodule, Skin rash ORPHA:1059
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyebrow, Congenital ichthyosiform erythroderma, Sparse eyelashes, Patchy alopecia, Erythro... OMIM:302960
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair, Dysphagia OMIM:620001
Reactive Arthritis
Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stomatitis, Pustule, Dystr... ORPHA:29207
Pearson Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia, Dysphagia ORPHA:699
Neonatal Inflammatory Skin And Bowel Disease
Erythema, Blepharitis, Horizontal eyebrow, Chapped lip, Chronic monilial nail infection, Psoriasi... ORPHA:294023
Autoinflammatory Disease, Systemic, With Vasculitis
Erythema, Hepatosplenomegaly, Abnormal circulating IgG level, Anti-Sm antibody positivity, Lupus ... OMIM:620376
Brittle Cornea Syndrome 1
Red hair, Atypical scarring of skin, Molluscoid pseudotumors, Palmoplantar cutis laxa OMIM:229200
Tetrasomy 12P
Short stature, Sparse eyebrow, Sparse hair ORPHA:884
Gitelman Syndrome
Hypermagnesemia, Polydipsia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Salt craving ORPHA:358
Ruijs-Aalfs Syndrome
Short stature, Hypogonadism, Sparse hair, Premature graying of hair OMIM:616200
Borjeson-Forssman-Lehmann Syndrome
Short stature, Sparse hair, Thick eyebrow, Hypogonadism ORPHA:127
Antisynthetase Syndrome
Autoimmunity, Skin rash, Lack of skin elasticity, Myositis, Keratoconjunctivitis sicca, Arthritis... ORPHA:81
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenomegaly OMIM:618541
Beta-Thalassemia Major
Skin ulcer, Reduced hemoglobin A, Persistence of hemoglobin F, Extramedullary hematopoiesis, Hepa... ORPHA:231214
Pilarowski-Bjornsson Syndrome
Broad eyebrow, Long eyelashes, Dermal translucency, Motor stereotypy OMIM:617682
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Inappropriate laughter, Abnormal eating beha... ORPHA:98794
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Dermal translucency, Thick eyebrow, Motor stereotypy ORPHA:529965
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Alopecia, Subungual hyperkeratosis, Atrichia, Eczematoid dermatitis, Ker... OMIM:308205
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Immunodeficiency 17
Abnormal B cell morphology, Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, ... OMIM:615607
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hyperbilirubinemia, Increased circulating copper concentration, Hi... OMIM:277900
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Cushing Syndrome Due To Ectopic Acth Secretion
Skin ulcer, Lymphopenia, Striae distensae, Leukocytosis, Hirsutism, Ecchymosis, Recurrent cutaneo... ORPHA:99889
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Pachyonychia Congenita 3
Palmoplantar keratoderma, Chapped lip, Onychogryposis of toenails, Nail dystrophy, Follicular hyp... OMIM:615726
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Enterocolitis, Hyperkeratosis OMIM:301108
Scarf Syndrome
Webbed neck, Low posterior hairline, Hypoplastic nipples, Cutis laxa, Sparse hair ORPHA:3134
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Noonan Syndrome 2
Sparse eyebrow, Nevus, Hypermelanotic macule, Melanocytic nevus, Redundant neck skin, Low posteri... OMIM:605275
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Auto... ORPHA:83471
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypocholesterolemia, Reduced circulating transferrin concentration, Decreased ci... ORPHA:90363
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Erythema, Abnormal hair morphology, Scleritis, Absent eyebrow, Sparse hair, Hyperkeratosis, Abnor... ORPHA:2273
Squalene Synthase Deficiency
Dry skin, Abnormality of hair pigmentation OMIM:618156
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Skin rash, Splenomegaly, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, An... ORPHA:85414
Lysinuric Protein Intolerance
Hemophagocytosis, Fine hair, Leukopenia, Splenomegaly, Cutis laxa, Pancreatitis, Thrombocytopenia... OMIM:222700
Cranioectodermal Dysplasia 3
Rhizomelia, Short nail, Fine hair, Dry skin, Cutis laxa, Broad nail, Short stature, Sparse hair OMIM:614099
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... OMIM:202010
Oligodontia-Colorectal Cancer Syndrome
Short eyelashes, Sparse body hair, Sparse axillary hair, Absent eyebrow, Sparse scalp hair OMIM:608615
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Sinusitis, T lymph... OMIM:242860
22Q11.2 Deletion Syndrome
Depression, Abnormality of the uterus, Hypocalcemia, Cryptorchidism, Attention deficit hyperactiv... ORPHA:567
Diffuse Cutaneous Systemic Sclerosis
Autoimmunity, Dysphagia, Skin ulcer, Arthritis ORPHA:220393
Blau Syndrome
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Skin ulcer, Synovitis, Intermittent gen... OMIM:186580
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, High anterior hairline, Coarse hair, Webbed neck, Sparse lateral eyebrow, ... OMIM:617506
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Ablepharon Macrostomia Syndrome
Fine hair, Dry skin, Breast hypoplasia, Redundant skin, Excessive wrinkled skin, Absent eyelashes... ORPHA:920
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Intellectual Developmental Disorder, Autosomal Dominant 34
Coarse hair, Bruxism, Curly hair, Motor stereotypy, Synophrys OMIM:616351
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hyperch... ORPHA:186
Dengue Fever
Leukopenia, Petechiae, Skin rash, Thrombocytopenia, Pruritus ORPHA:99828
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Sex reversal, Clitoral hypertrophy, Abnormal circulating cholesterol concen... ORPHA:168558
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, H... ORPHA:391487
Giant Cell Arteritis
Alopecia, Skin ulcer, Arthritis, Anorexia, Pericarditis ORPHA:397
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Liver Disease, Severe Congenital
Hypospadias, Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hype... OMIM:619991
Trichorhinophalangeal Syndrome Type 1
Sparse eyebrow, Leukonychia, Sparse eyelashes, Short stature, Sparse hair, Fragile nails ORPHA:77258
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria... ORPHA:90793
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Erythema, Uveitis, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Myosit... ORPHA:32960
Sialidosis Type 1
Hyperkeratosis, Splenomegaly ORPHA:812
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Tongue thrusting, Hypopigmentation of hair, ... ORPHA:98795
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Short stature, Patchy alopecia, Sparse hair OMIM:617763
Spondyloenchondrodysplasia
Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Pa... ORPHA:1855
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis ORPHA:79279
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Sex reversal, Clitoral hypertrophy, Abnormal circulating cholesterol concen... ORPHA:289548
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Hirsutism OMIM:618087
De Barsy Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Excessive wrinkled skin, Cutis lax... ORPHA:2962
B4Galt1-Cdg
Inflammatory abnormality of the skin, Splenomegaly, Redundant neck skin ORPHA:79332
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyebrow, High anterior hairline, Small nail, Sparse eyelashes, Short stature, Sparse hair,... OMIM:250410
Congenital Disorder Of Glycosylation, Type Iia
Long eyelashes, Thick eyebrow, Self-mutilation, Hirsutism, Stereotypical hand wringing, Aggressiv... OMIM:212066
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Frontonasal Dysplasia 2
Sparse eyebrow, Nevus, Fine hair, Alopecia totalis, Intrauterine growth retardation, Sparse eyela... OMIM:613451
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Recurrent otitis media, Autoimmunity, Recurren... ORPHA:449291
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Facial hirsutism, Thick eyebrow, Hirsutism, Acne, Synophrys ORPHA:247768
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Glass Syndrome
Restlessness, Long eyelashes, Frequent temper tantrums, Nail dysplasia, Aggressive behavior, Hype... OMIM:612313
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Unusual skin infection, Granuloma, Skin ulcer, Restles... ORPHA:68
Simpson-Golabi-Behmel Syndrome
Small nail, Polysplenia, Supernumerary nipple, Increased circulating IgE level, Splenomegaly, Nai... ORPHA:373
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Toenail dysplasia, Eczematoid dermatitis, Oral-pharyngeal dysphagia, Hirsutism, Attention deficit... OMIM:300966
Noonan Syndrome 10
Sparse eyebrow, Palmoplantar cutis laxa, Hyperpigmentation of the skin, Hyperkeratosis, Curly hai... OMIM:616564
Tempi Syndrome
Increased hematocrit, Facial erythema, Polycythemia, Increased circulating IgG level ORPHA:284227
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Acute Adrenal Insufficiency
Hyperuricemia, Hyponatremia, Salt craving, Anorexia, Hyperkalemia, Hypercalcemia, Increased circu... ORPHA:95409
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Freckled genitalia ORPHA:79076
Rothmund-Thomson Syndrome, Type 2
Alopecia, Sparse eyebrow, Premature graying of hair, Hypogonadism, Dermal atrophy, Nail dystrophy... OMIM:268400
Scarf Syndrome
Webbed neck, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Cutis laxa, Spar... OMIM:312830
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Epidermoid cyst, Intrauterine growth retardation, Severe intrauterine growth retardat... OMIM:614114
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Dermal atrophy, Brittle hair, Sparse hair, Growth delay OMIM:608612
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Leukocytosis, Splenome... OMIM:615895
Joubert Syndrome 37
Short stature, Sparse hair OMIM:619185
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Palmoplantar keratoderma, Supernumerary nipple, Sparse body hair, Nail dystrophy, Sparse eyelashe... OMIM:106260
Short Syndrome
Severe short stature, Alopecia, Sparse hair, Excessive wrinkled skin ORPHA:3163
Bainbridge-Ropers Syndrome
Self-injurious behavior, Highly arched eyebrow, Supernumerary nipple, Thin eyebrow, Long eyelashe... OMIM:615485
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Nail dystrophy,... ORPHA:79501
Mevalonic Aciduria
Fluctuating splenomegaly, Morbilliform rash, Hepatosplenomegaly, Leukocytosis, Skin rash, Thrombo... OMIM:610377
Say-Barber-Miller Syndrome
Highly arched eyebrow, Sparse eyebrow, Decreased circulating IgG level, Eczematoid dermatitis, Ab... ORPHA:3132
Zinc Deficiency, Transient Neonatal
Alopecia, Eczematoid dermatitis OMIM:608118
Good Syndrome
Decreased circulating antibody level, Abnormal leukocyte morphology, Thrombocytopenia, Sinusitis,... ORPHA:169105
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Atrophic scars, Cutis laxa, Short stature, Dermal translucency, Sparse hair OMIM:615349
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Anorexia, Postauricular p... OMIM:619381
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse pubic hair, Sparse eyebrow, Blepharitis, Fair hair, Sparse eyelashes, Nail dysplasia, Hypo... OMIM:129900
Jaberi-Elahi Syndrome
Sparse eyebrow, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:617988
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypomagnesemia, Bruxism, Stereotypical body rocking, Low frustration tolerance, Hypocalcemia, Cry... OMIM:619503
Inflammatory Pseudotumor Of The Liver
Autoimmune antibody positivity, Increased hepatitis B virus antibody level ORPHA:90003
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair, Retinal pigment epithelial mottling OMIM:614105
Adult-Onset Nemaline Myopathy
Paraproteinemia, Neuromuscular dysphagia ORPHA:171442
Carney Complex, Type 1
Nevus, Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Recurrent aphthous stomatitis, Peritonitis, Increased circulating IgA level, Arthritis,... ORPHA:343
Ectodermal Dysplasia And Immunodeficiency 2
Dry skin, Splenomegaly, Defective production of NFKB1-dependent cytokines, Aplasia of the sweat g... OMIM:612132
Koolen-De Vries Syndrome
Dry skin, Ichthyosis, Overfriendliness, Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Infantile Systemic Hyalinosis
Thickened skin, Subcutaneous nodule, Hyperpigmentation of the skin, Skin ulcer ORPHA:2176
Singleton-Merten Syndrome 2
Psoriasiform lesion, Hyperkeratosis OMIM:616298
Hamamy Syndrome
Preauricular skin tag, Sparse eyebrow, Hypochromic anemia, Sparse lateral eyebrow, Microcytic ane... OMIM:611174
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Plague
Localized skin lesion, Inflammation of the large intestine, Lymphadenitis, Skin ulcer, Chapped li... ORPHA:707
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Lymphopenia, Acanthosis nigricans, Sparse hair OMIM:616541
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Primary Sclerosing Cholangitis
Hypoalbuminemia, Depression ORPHA:171
Tyrosinemia Type 2
Palmoplantar keratoderma, Abnormality of the nail, Hyperkeratosis ORPHA:28378
Hajdu-Cheney Syndrome
Thickened skin, Coarse hair, Periodontitis, Skin ulcer, Abnormal fingernail morphology, Dry skin,... ORPHA:955
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Acral ulceration OMIM:162400
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Aredyld Syndrome
Short stature, Intrauterine growth retardation, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:1133
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Premature graying of hair, Premature skin wrinkling, Scleroderma, Absent ey... ORPHA:363618
Behcet Syndrome
Erythema, Patchy alopecia, Iridocyclitis, Arthritis, Erythema nodosum, Epididymitis, Iritis OMIM:109650
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Shwachman-Diamond Syndrome
Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Neutropeni... ORPHA:811
Atypical Werner Syndrome
Abnormal hair whorl, Alopecia, Thin skin, Skin ulcer, Premature graying of hair, Abnormal hair mo... ORPHA:79474
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Dubowitz Syndrome
Eczematoid dermatitis, Sparse lateral eyebrow, Fine hair, Abnormal fingernail morphology, Dry ski... ORPHA:235
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
White-Sutton Syndrome
Self-injurious behavior, Overfriendliness, Aggressive behavior, Hyperactivity, Tics, Sparse hair,... OMIM:616364
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coarse hair, Eczematoid dermatitis, Superficial dermal perivascular inflammatory infiltrate, Para... ORPHA:83617
Kawasaki Disease
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Irritability ORPHA:2331
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Webbed neck, Fine hair, Postnatal growth retardation, Low posterior hairli... OMIM:613563
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Gapo Syndrome
Alopecia, Sparse eyebrow, Epidermoid cyst, Breast hypoplasia, Redundant skin, Sparse eyelashes, N... OMIM:230740
Addison Disease
Hyperuricemia, Hyponatremia, Salt craving, Anorexia, Primary testicular failure, Hyperkalemia, Hy... ORPHA:85138
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypercalcemia, Hypophosphatemia, Testicular neoplasm, Dysphagia, Uterine leiomyoma ORPHA:99880
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Hypopigmentation of the skin, Fair hair, Eczematoid dermatitis, Recurrent otitis media,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Hypopigmentation of the skin, Fair hair, Eczematoid dermatitis, Recurrent otitis media,... ORPHA:363958
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Decreased testicular size ORPHA:93325
Hallermann-Streiff Syndrome
Sparse eyebrow, Recurrent pneumonia, Fine hair, Dry skin, Dermal atrophy, Sparse eyelashes, Hyper... OMIM:234100
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyebrow, Coarse hair, Palmoplantar keratoderma, Dystrophic toenail, Supernumerary nipple, ... ORPHA:1071
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Staphylococcal Necrotizing Pneumonia
Pneumonia, Leukopenia, Leukocytosis, Addictive alcohol use, Acute infectious pneumonia, Neutrophilia ORPHA:36238
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
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Short stature, Hypogonadotropic hypogonadism, Sparse body hair ORPHA:3068
Parathyroid Carcinoma
Polydipsia, Hypercalcemia, Hypophosphatemia, Testicular neoplasm, Dysphagia, Uterine leiomyoma ORPHA:143
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Scalp-Ear-Nipple Syndrome
Thickened skin, Sparse pubic hair, Fine hair, Breast aplasia, Dry skin, Pyelonephritis, Nail dysp... OMIM:181270
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse pubic hair, Sparse eyebrow, Blepharitis, Fair hair, Facial hirsutism, Nail dystrophy, Spar... OMIM:604292
Reynolds Syndrome
Anti-centromere antibody positivity, Lymphopenia, Splenomegaly, Scleroderma, Antinuclear antibody... OMIM:613471
Weaver Syndrome
Fine hair, Melanocytic nevus, Polyphagia, Cutis laxa, Thin nail, Deep-set nails, Sparse hair OMIM:277590
Biotinidase Deficiency
Alopecia, Skin rash, Splenomegaly, Seborrheic dermatitis, Conjunctivitis, Recurrent skin infections OMIM:253260
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... ORPHA:3214
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Sparse lateral eyebrow, Fine hair, Violent behavior, Dry skin, Acute lymph... OMIM:280000
Trichotillomania
Compulsive behaviors, Alopecia, Hair-pulling OMIM:613229
Familial Tumoral Calcinosis
Erythema, Hypopigmented skin patches, Skin rash, Periarticular subcutaneous nodules, Splenomegaly... ORPHA:53715
Osteogenesis Imperfecta, Type Xx
Highly arched eyebrow, Disproportionate short-limb short stature, Sparse lateral eyebrow, Intraut... OMIM:618644
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Erythema, Eczematoid dermatitis, Redundant skin, Seborrheic dermatitis, Palmoplantar hyperkeratos... OMIM:259100
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Antineutrophil antibody positivity, Rheumatoid arthritis, Systemic lupus eryth... ORPHA:49041
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia, Irritability OMIM:277440
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Fine hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Short stature, Sparse hair OMIM:614091
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... OMIM:278850
Fibrous Dysplasia Of Bone
Precocious puberty in females, Ovarian cyst, Hypophosphatemia, Testicular neoplasm, Hypercalcemia ORPHA:249
ERI1-related disease
Intrauterine growth retardation, Low anterior hairline, Anonychia, Short stature, Sparse hair OMIM:608739
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Thickened skin, Abnormal temper tantrums, Thick eyebrow, Hypoplastic sweat glands, Aggressive beh... ORPHA:73223
Immunodeficiency 31C
Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Decreased lymphocyte proliferation in r... OMIM:614162
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneumonia, Skin ra... OMIM:617718
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Sparse hair, Nevus flammeus of the forehead OMIM:616449
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas... OMIM:620005
Cryptogenic Organizing Pneumonia
Anorexia, Leukocytosis, Neutrophilia ORPHA:1302
Menkes Disease
Sparse hair, Thickened skin, Atypical scarring of skin, Osteomyelitis, Dry skin, Hypopigmentation... ORPHA:565
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Fine hair, Intrauterine growth retardation, Chordee, Delayed puberty, Brittle hair, Short stature... OMIM:618891
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Gaucher Disease Type 1
Splenic infarction, Anorexia, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukopenia, Spleno... ORPHA:77259
Relapsing Fever
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia ORPHA:91547
Listeriosis
Arteritis, Abscess, Pustule, Endocarditis, Unusual skin infection, Osteomyelitis, Peritonitis, He... ORPHA:533
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, ... OMIM:617321
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Atypical scarring of skin, Periodontitis, Skin ulcer, Fine hair, Attenti... ORPHA:534
Hallermann-Streiff Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Dermal atrophy, Sparse eyelashes, Proportionate short... ORPHA:2108
Rift Valley Fever
Hepatitis, Skin rash, Infectious encephalitis, Thrombocytopenia, Anorexia, Anemia, Increased circ... ORPHA:319251
Down Syndrome
Polycythemia, Acute megakaryocytic leukemia, Thrombocytopenia, Neutrophilia, Leukemia, Sparse hai... ORPHA:870
Holocarboxylase Synthetase Deficiency
Alopecia, Skin rash, Thrombocytopenia OMIM:253270
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Fine hair, Self-mutilation, Polyphagia, Aggressive behavior, Sparse hair ORPHA:251028
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Sparse pubic hair, Sparse body hair, Decreased fertility, Dysmenorrhea, Sparse axillary hair, Dec... ORPHA:90796
Opitz-Kaveggia Syndrome
Fine hair, Facial wrinkling, Skin tags, Frontal upsweep of hair, Attention deficit hyperactivity ... OMIM:305450
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Oculodentodigital Dysplasia
Palmoplantar keratoderma, Fine hair, Abnormal fingernail morphology, Curly hair, Slow-growing hai... ORPHA:2710
Lymphatic Malformation 12
Hyperkeratosis OMIM:620014
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Pancytopenia, Erythema nodosum, Anorexia, Neutrophilia, Purpura, Epididymitis,... ORPHA:99827
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Brain abscess, Liver abscess, Neutrophilia ORPHA:54251
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Palmoplantar keratoderma, Small nail, Nail dystrophy, Orthokeratotic hyperkeratosis, Sclerodactyly OMIM:610644
Restrictive Dermopathy
Webbed neck, Skin erosion, Sparse eyebrow, Short nail, Generalized hyperkeratosis, Dermal atrophy... ORPHA:1662
Charge Syndrome
Hypoplastic male external genitalia, External genital hypoplasia, Cryptorchidism, Hypocalcemia, S... OMIM:214800
Herpes Simplex Virus Encephalitis
Addictive alcohol use, Leukocytosis, Neutrophilia ORPHA:1930
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis, Nevus, Pilomatrixoma OMIM:620189
Ramon Syndrome
Juvenile rheumatoid arthritis, Pigmentary retinopathy, Hyperkeratosis, Hypertrichosis OMIM:266270
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Late-Onset Junctional Epidermolysis Bullosa
Localized skin lesion, Anonychia, Nail dystrophy ORPHA:79406
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Folliculitis, Enterocolitis, Pancolitis OMIM:612567
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Granuloma, Eczematoid dermatitis, Lymphadenitis, Osteomy... OMIM:306400
Digeorge Syndrome
Attention deficit hyperactivity disorder, Hydrocele testis, Hypocalcemia, Ovarian cyst OMIM:188400
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Johanson-Blizzard Syndrome
Hypospadias, Clitoral hypertrophy, Septate vagina, Hypocalcemia, Cryptorchidism, Increased VLDL c... OMIM:243800
Bethlem Muscular Dystrophy
Cigarette-paper scars, Hyperkeratosis ORPHA:610
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Eosinophilia, Autoimmune antibody positivity, ... ORPHA:75565
Complement Factor I Deficiency
Decreased circulating complement factor B concentration, Recurrent otitis media, Decreased circul... OMIM:610984
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Preauricular skin tag, Abnormal temper tantrums, Hypopigmentation of the s... ORPHA:177907
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
High anterior hairline, Hyperkeratosis, Dysphagia OMIM:615510
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis ORPHA:163966
Kaufman Oculocerebrofacial Syndrome
Preauricular skin tag, Sparse eyebrow, Short stature, Sparse hair, Thin skin OMIM:244450
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Oculodentodigital Dysplasia, Autosomal Recessive
Short stature, Sparse hair, Fine hair, Sparse eyelashes OMIM:257850
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Stuve-Wiedemann Syndrome 1
Premature skin wrinkling, Milia, Intrauterine growth retardation, Short stature, Sparse hair, Thi... OMIM:601559
Hydroxykynureninuria
Dry skin, Stomatitis, Motor stereotypy ORPHA:79155
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Rhizomelia, Small nail, Breast hypoplasia, Nail dysplasia, Oligozoospermia, Sparse hair, Growth d... OMIM:614813
Marshall Syndrome
Sparse eyebrow, Sparse hair, Osteoarthritis, Sparse eyelashes ORPHA:560
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Abnormal fear-induced behavior, Emotional lability OMIM:219090
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Ocular albinism, Anemia, Hypopigmentation of hair, Thin skin ORPHA:2719
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Atopic dermatitis, Pneumonia, Hepatitis, Pancytopenia, Splenomegaly, Chilblai... OMIM:615846
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Acral ulceration OMIM:201300
Hawkinsinuria
Sparse hair, Restlessness OMIM:140350
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... OMIM:601678
Degcags Syndrome
Oral-pharyngeal dysphagia, Premature graying of hair, Hepatosplenomegaly, Pancytopenia, Low poste... OMIM:619488
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Lenz-Majewski Hyperostotic Dwarfism
Intrauterine growth retardation, Chordee, Cutis laxa, Short stature, Sparse hair, Thin skin OMIM:151050
Familial Mediterranean Fever
Erysipelas, Leukocytosis, Splenomegaly, Crohn's disease, Orchitis, Peritonitis, Arthritis, Neutro... OMIM:249100
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Pheochromocytoma
Hypercalcemia OMIM:171300
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Zygomycosis
Nephritis, Unusual skin infection, Brain abscess, Hepatitis, Fasciitis, Skin plaque, Infectious e... ORPHA:73263
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Polyphagia OMIM:609734
Cockayne Syndrome B
Pigmentary retinopathy, Dry hair, Atypical scarring of skin, Abnormal hair morphology, Dry skin, ... OMIM:133540
Craniolenticulosutural Dysplasia
Coarse hair, Hyperpigmentation of the skin, Abnormality of skin pigmentation, Brittle hair, Spars... ORPHA:50814
Caffey Disease
Increased circulating antibody level ORPHA:1310
Japanese Encephalitis
Neutrophilia, Infectious encephalitis, Increased circulating antibody level, Anorexia, Increased ... ORPHA:79139
Fucosidosis
Abnormality of the nail, Generalized hyperkeratosis ORPHA:349
Cockayne Syndrome A
Irregular menstruation, Atypical scarring of skin, Dry hair, Hypogonadism, Dry skin, Intrauterine... OMIM:216400
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Ablepharon-Macrostomia Syndrome
Premature skin wrinkling, Hypoplastic fingernail, Dry skin, Redundant skin, Absent eyelashes, Hyp... OMIM:200110
Orofaciodigital Syndrome Type 1
Alopecia, Coarse hair, Lip pit, Dry skin, Milia, Brittle hair, Sparse hair, Chronic otitis media ORPHA:2750
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Facial wrinkling, Dry skin, Recurrent pancreatitis, Acanthosis nigricans,... OMIM:606721
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Acral ulceration OMIM:256840
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Hemophagocytosis, Reduced circulating complement concentration, ... ORPHA:470
Tick-Borne Encephalitis
Myelitis, Leukopenia, Leukocytosis, Abnormal circulating cytokine concentration, Thrombocytopenia... ORPHA:297
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig... ORPHA:90794
Nablus Mask-Like Facial Syndrome
Highly arched eyebrow, Sparse eyebrow, Frontal upsweep of hair, Sparse eyelashes, Absent eyelashe... OMIM:608156
Familial Mediterranean Fever
Erythema, Erysipelas, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Peritonitis, Pancreatitis,... ORPHA:342
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Seborrheic dermatitis, Compuls... ORPHA:488618
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Self-injurious behavior, Abnormal temper tantrums, Hypopigmentation of the... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Self-injurious behavior, Abnormal temper tantrums, Hypopigmentation of the... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Self-injurious behavior, Abnormal temper tantrums, Hypopigmentation of the... ORPHA:177901
Myeloma, Multiple
Paraproteinemia OMIM:254500
Parkes Weber Syndrome
Capillary malformation, Erythematous plaque, Skin ulcer, Scaling skin ORPHA:90307
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Fabry Disease
Arthritis, Anorexia, Anemia, Subcutaneous nodule, Hyperkeratosis ORPHA:324
Prader-Willi Syndrome
Hypopigmentation of the skin, Periodontitis, Erysipelas, Polyphagia, Attention deficit hyperactiv... ORPHA:739
Ullrich Congenital Muscular Dystrophy 1A
Follicular hyperkeratosis OMIM:254090
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody positivity, M... ORPHA:79078
Teebi-Shaltout Syndrome
Highly arched eyebrow, Low anterior hairline, Slow-growing hair, Short stature, Sparse hair OMIM:272950
Neuropathy, Hereditary Sensory And Autonomic, Type V
Acral ulceration OMIM:608654
Oculodentodigital Dysplasia
Uveitis, Dry hair, Fine hair, Slow-growing hair, Sparse hair, Fragile nails OMIM:164200
De Sanctis-Cacchione Syndrome
Keratitis, Dermal atrophy, Parakeratosis, Conjunctivitis, Hypermelanotic macule OMIM:278800
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Self-injurious behavior, Abnormal temper tantrums, Hypopigmentation of the... ORPHA:98754
Woodhouse-Sakati Syndrome
Alopecia, Fine hair, Hypogonadotropic hypogonadism, Premature ovarian insufficiency, Sparse hair,... OMIM:241080
Marshall-Smith Syndrome
Highly arched eyebrow, Hypertrichosis, Aspiration pneumonia, Melanocytic nevus, Thick eyebrow, Br... OMIM:602535
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Hypopigmentation of the skin, Polyphagia, Skin-picking, Compulsive beha... ORPHA:398069
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Hypopigmentation of the skin, Polyphagia, Skin-picking, Hypopigmentatio... ORPHA:398079
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Abnormal temper tantrums, Skin ulcer, Abnormality of the spleen, Hepatosp... ORPHA:2072
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Hypopigmentation of the skin, Recurrent pneumonia, Recurrent otitis media, Spleno... OMIM:252500
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina OMIM:146255
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:793
Vipoma
Hypokalemia, Hypercalcemia, Anorexia ORPHA:97282
Cranioectodermal Dysplasia 2
Sparse eyebrow, Recurrent pneumonia, Polysplenia, Splenomegaly, Sparse eyelashes, Cutis laxa, Cho... OMIM:613610
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Splenomegaly,... ORPHA:163746
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Alopecia, Skin erosion, Pyoderma, Nail dystrophy, Skin plaque, Anonychia, Aplasia cuti... ORPHA:79404
Gaucher Disease
Splenic infarction, Hepatitis, Osteomyelitis, Pancytopenia, Leukopenia, Splenomegaly, Ichthyosis,... ORPHA:355
Cerebellar-Facial-Dental Syndrome
Severe short stature, Infancy onset short-trunk short stature, Sparse eyebrow, Fine hair, Sparse ... ORPHA:444072
Glucagonoma
Depression, Hypercalcemia, Anorexia ORPHA:97280
Ppoma
Hypercalcemia, Anorexia ORPHA:97278
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Sparse hair, Thick eyebrow, Synophrys OMIM:609460
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Reduced hematocrit, A... ORPHA:91500
Costello Syndrome
Nevus, Curly hair, Redundant neck skin, Deep-set nails, Hyperpigmentation of the skin, Acanthosis... OMIM:218040
Multiple Endocrine Neoplasia Type 4
Cervix cancer, Hypercalcemia, Testicular neoplasm ORPHA:276152
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Preauricular skin tag, Eczematoid dermatitis, Redundant neck skin, Frontal hirsutism, Sparse hair... OMIM:617157
Craniolenticulosutural Dysplasia
Short stature, Sparse hair, Coarse hair, Brittle hair OMIM:607812
Leprechaunism
Thickened skin, Facial hypertrichosis, Hypertrichosis, Acanthosis nigricans, Hyperkeratosis ORPHA:508
Orofaciodigital Syndrome I
Alopecia, Dry hair, Milia, Short stature, Sparse hair OMIM:311200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse eyebrow, Disproportionate short stature, Fine hair, Dry skin, Intrauterine growth retardat... OMIM:210710
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Subcutaneous nodule, Papule, Hyperkeratosis ORPHA:79280
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Kanzaki Disease
Dry skin, Hyperkeratosis, Petechiae OMIM:609242
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Recurrent pneumonia, Molluscoid pseudotumors, Excessive wrinkled skin, Palmoplantar cutis laxa, F... OMIM:225400
Branchiooculofacial Syndrome
Dermoid cyst, Atypical scarring of skin, Premature graying of hair, Supernumerary nipple, Postnat... OMIM:113620
Monosomy 22Q13.3
Bruxism, Long eyelashes, Thick eyebrow, Recurrent pyelonephritis, Hypoplastic toenails, Hair-pull... ORPHA:48652
Somatostatinoma
Hypercalcemia, Anorexia ORPHA:97283
Cowden Syndrome
Palmoplantar keratoderma, Hypopigmented skin patches, Generalized hyperkeratosis, Melanocytic nev... ORPHA:201
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse eyebrow, Nail dystrophy, Palmoplantar hyperkeratosis, Elevated hemoglobin A1c, Sparse hair OMIM:619127
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Cervical neoplasm ORPHA:653
Lassa Fever
Conjunctivitis, Increased circulating IgM level, Dysphagia ORPHA:99824
Grfoma
Hypercalcemia, Anorexia ORPHA:97261
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Restrictive Dermopathy 1
Sparse eyebrow, Short nail, Skin erosion, Thin skin, Sparse eyelashes, Absent eyelashes, Scaling ... OMIM:275210
Chilton-Okur-Chung Neurodevelopmental Syndrome
Self-injurious behavior, Highly arched eyebrow, Sparse eyebrow, Sparse lateral eyebrow, Recurrent... OMIM:619841
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... OMIM:258040
Charcot-Marie-Tooth Disease Type 4B2
Penetrating foot ulcers ORPHA:99956
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Nevus, Hyperparakeratosis ORPHA:276280
Trichorhinophalangeal Syndrome, Type Ii
Recurrent pneumonia, Nevus, Recurrent otitis media, Chronic gastritis, Dry skin, Thick eyebrow, A... OMIM:150230
Wiedemann-Rautenstrauch Syndrome
Aplasia/Hypoplasia of the nails, Sparse hair, Pigmentary retinopathy, Thin skin, Premature skin w... ORPHA:3455
Epidermolysis Bullosa, Junctional 4, Intermediate
Dystrophic fingernails, Scarring alopecia of scalp, Nail dystrophy, Macular hyperpigmented dermop... OMIM:619787
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Sparse eyebrow, Absent nipple, Small nail, Preauricular pit, Nail dystrophy, Aplasia of the thymu... OMIM:620186
Phosphoribosylpyrophosphate Synthetase Superactivity
Sparse hair, Gout OMIM:300661
Adenocarcinoma Of The Anal Canal
Skin ulcer ORPHA:424016
Williams Syndrome
Precocious puberty, Depression, Abnormal circulating lipid concentration, Cryptorchidism, Overfri... ORPHA:904
Encephalitis Lethargica
Autoimmunity, Increased circulating antibody level ORPHA:83600
Proteus Syndrome
Thickened skin, Irregular hyperpigmentation, Thymus hyperplasia, Central heterochromia, Generaliz... ORPHA:744
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Nail dysplasia, Sparse hair, Motor stereotypy, Preauricular skin tag OMIM:616682
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Pancytopenia, Abnormality of T cell physiology, Splenomegaly... OMIM:181000
Wrinkly Skin Syndrome
Sparse hair, Postnatal growth retardation, Intrauterine growth retardation, Excessive wrinkled sk... ORPHA:2834
Yellow Fever
Leukocytosis, Skin rash, Thrombocytopenia, Neutrophilia, Increased circulating interleukin 6 conc... ORPHA:99829
6Q Terminal Deletion Syndrome
Highly arched eyebrow, Hyperkeratosis, Low anterior hairline ORPHA:75857
Focal Dermal Hypoplasia
Hypopigmentation of the skin, Focal dermal aplasia/hypoplasia, Supernumerary nipple, Dermal atrop... OMIM:305600
Warburg-Cinotti Syndrome
Erythema, Follicular hyperkeratosis, Sterile abscess, Thin skin OMIM:618175
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Atrophic scars, Cutis laxa, 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
Kyphoscoliotic Ehlers-Danlos Syndrome
Atypical scarring of skin, Thin skin, Follicular hyperkeratosis, Synophrys ORPHA:536545
Choreoacanthocytosis
Self-injurious behavior, Phonic tics, Head-banging, Bruxism, Acanthocytosis, Splenomegaly, Hair-p... ORPHA:2388
Myhre Syndrome
Thickened skin, Sparse hair, Thick eyebrow, Fine hair OMIM:139210
Multiple Endocrine Neoplasia Type 1
Depression, Hypercalcemia, Anorexia ORPHA:652
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Scalp-Ear-Nipple Syndrome
Breast aplasia, Abnormal fingernail morphology, Sparse hair, Pyelonephritis ORPHA:2036
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Pica OMIM:614527
Wrinkly Skin Syndrome
Short nail, Intrauterine growth retardation, Redundant skin, Neonatal wrinkled skin of hands and ... OMIM:278250
Roberts Syndrome
Sparse hair, Thrombocytopenia ORPHA:3103
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Dysphagia, Hyperactivity, Motor stereotypy, Synophrys ORPHA:447997
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair ORPHA:1974
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Motor stereotypy OMIM:616393
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Hyperactivity, 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
Pmm2-Cdg
Hypoalbuminemia, Hyperplastic labia majora, Decreased testicular size, Aplasia of the ovary, Redu... ORPHA:79318
Primary Triglyceride Deposit Cardiomyovasculopathy
Vacuolated lymphocytes, Inflammatory abnormality of the skin, Pancreatitis, Splenomegaly ORPHA:565612
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia ORPHA:77261
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Cornelia De Lange Syndrome 6
Highly arched eyebrow, Sparse eyebrow, Frontal upsweep of hair, Hair-pulling, Compulsive behavior... OMIM:620568
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus, Attention deficit hyperactivity disorder OMIM:614083
Neurocardiofaciodigital Syndrome
Short stature, Sparse eyebrow, Sparse hair OMIM:619869
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Polydipsia, Retinal pigment epithelial mott... OMIM:219800
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Severe short stature, Alopecia, Thin eyebrow, Intrauterine growth retardation, Loss of eyelashes,... ORPHA:2636
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Cryptor... ORPHA:353281
Smith-Lemli-Opitz Syndrome
Self-injurious behavior, Abnormal eyelash morphology, Hypopigmentation of hair, Attention deficit... ORPHA:818
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Renpenning Syndrome 1
Short stature, Sparse hair, Sparse lateral eyebrow, Brittle hair OMIM:309500
Sotos Syndrome
Hypercalcemia, Cryptorchidism, Phimosis, Aggressive behavior, Attention deficit hyperactivity dis... ORPHA:821
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dysphagia, Increased circulating antibody level OMIM:606002
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Cysticercosis
Increased anti-parasite IgE antibody level, Iridocyclitis, Increased circulating antibody level, ... ORPHA:1560
Williams-Beuren Syndrome
Micropenis, Attention deficit hyperactivity disorder, Hypercalcemia, Obsessive-compulsive trait OMIM:194050
Primrose Syndrome
Self-injurious behavior, Sparse body hair, Tics, Dystrophic fingernails, Aggressive behavior, Att... OMIM:259050
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
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
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Cryptor... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Cryptor... ORPHA:353277
Cardiac-Urogenital Syndrome
Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Penoscrotal hypospadia... OMIM:618280
Pallister-Killian Syndrome
Webbed neck, Rhizomelia, Sparse eyebrow, Sparse scalp hair, Alopecia, Supernumerary nipple, Spars... OMIM:601803
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Exstrophy-Epispadias Complex
Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Bifid uterus, A... ORPHA:322
Roberts-Sc Phocomelia Syndrome
Postnatal growth retardation, Severe intrauterine growth retardation, Stillbirth, Sparse hair, Ca... OMIM:268300
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Aggressive behavior, Aplasia of the uterus, Compulsive beha... OMIM:135900
Menke-Hennekam Syndrome 1
Long eyelashes, Sparse hair, Thick eyebrow OMIM:618332
Norrie Disease
Self-injurious behavior, Uterine rupture, Cryptorchidism, Irritability, Attention deficit hyperac... ORPHA:649
Wolf-Hirschhorn Syndrome
Precocious puberty, Cryptorchidism, Motor stereotypy, Aplasia of the uterus, Hypospadias OMIM:194190
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency OMIM:130050
Hydrolethalus Syndrome 1
Bifid uterus, Hypospadias, Abnormal vagina morphology OMIM:236680
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypospadias OMIM:276820
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Townes-Brocks Syndrome 1
Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa... OMIM:107480
Okamoto Syndrome
Bifid uterus ORPHA:2729
Vascular Ehlers-Danlos Syndrome
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypokalemia, Hypospadias 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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