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Gene: Col17a1 MGI:88450

Gene Summary

Name:

collagen, type XVII, alpha 1

Synonyms:

BPAg2, Bpag2, Bpag, BP180

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal skin morphology	Col17a1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased circulating serum albumin level	Col17a1^em1(IMPC)Mbp	HOM	Early adult	2.68×10^-05
decreased circulating calcium level	Col17a1^em1(IMPC)Mbp	HOM	Early adult	4.38×10^-08
hydrometra	Col17a1^em1(IMPC)Mbp	HOM	Early adult	0.00
increased freezing behavior	Col17a1^em1(IMPC)Mbp	HOM	Early adult	5.69×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

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.

Human diseases associated with Col17a1 (6 diseases)
Human diseases predicted to be associated with Col17a1 (1492 diseases)

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

Disease	Matching phenotypes	Source
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Growth delay, Atrophic scars, Palmoplantar keratoderma, Nail dystroph...	ORPHA:79402
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, A...	ORPHA:251393
Late-Onset Junctional Epidermolysis Bullosa	Localized skin lesion, Gastrointestinal inflammation, Atrophic scars, Palmoplantar keratoderma, N...	ORPHA:79406
Epidermolysis Bullosa, Junctional 4, Intermediate	Macular hyperpigmented dermopathy, Scarring alopecia of scalp, Dystrophic fingernails, Nail dystr...	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	Matching phenotypes	Source
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc...	ORPHA:555905
Darier Disease	Macule, Acrokeratosis, Hypermelanotic macule, Pruritus, Thickened skin, Abnormal hair morphology,...	ORPHA:218
Erythema Elevatum Diutinum	Skin vesicle, Skin nodule, Increased circulating antibody level	ORPHA:90000
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha...	OMIM:613102
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Allergic rhinitis, Absent facial h...	ORPHA:90368
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Increased circulating IgE level, Subcutaneous nodule, Hyperkeratosis, Atrophic scars, N...	ORPHA:89843
Pruritic Urticarial Papules And Plaques Of Pregnancy	Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythem...	ORPHA:64745
Dowling-Degos Disease	Hypopigmented macule, Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpi...	ORPHA:79145
Wells Syndrome	Skin vesicle, Eosinophilia	ORPHA:901
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Pruritus, Skin erosion, Localized skin lesion, Gastrointestinal i...	ORPHA:79410
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid...	ORPHA:90280
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Increased cir...	OMIM:618282
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Peeling Skin Syndrome 1	Brittle hair, Eosinophilia, Pruritus, Increased circulating IgE level, Onycholysis, Nail dystroph...	OMIM:270300
Pemphigoid Gestationis	Skin vesicle	ORPHA:63275
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, ...	ORPHA:158681
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Aplasia cutis congenita on trunk or limbs, Abnormal fingernail morphology, Hyperpigm...	ORPHA:89838
Proliferating Trichilemmal Cyst	Epidermoid cyst, Skin ulcer	ORPHA:492
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Eosinophilia, Pruritus, Abnormal hair morphology, Paronychia, I...	ORPHA:2314
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Acantholysis, Pruritus,...	ORPHA:293173
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Generalized Eruptive Histiocytosis	Erythematous macule, Maculopapular exanthema, Pruritus, Hypereosinophilia, Spotty hyperpigmentati...	ORPHA:157991
Pyoderma Gangrenosum	Skin ulcer, Atrophic scars, Increased circulating antibody level, Skin vesicle, Myeloid leukemia,...	ORPHA:48104
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Psoriasiform lesion, Eosinophilia, Increased circulating IgA level, Autoimmune thromboc...	ORPHA:169154
Porokeratosis Plantaris Palmaris Et Disseminata	Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin plaque, Annular cutaneous lesion, Hype...	ORPHA:737
Pemphigus Foliaceus	Psoriasiform dermatitis, Autoimmunity, Acantholysis, Pruritus, Pustule, Crusting erythematous der...	ORPHA:79481
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Autoimmunity, Abnormal immunoglobulin level, Increased T cell count, Increased circulatin...	ORPHA:98813
Familial Benign Chronic Pemphigus	Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion	ORPHA:2841
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Netherton Syndrome	Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Eczema, Allergic rhini...	OMIM:256500
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Pruritus, Splenomegaly, Erythema, Hypopigmented skin patches, Skin u...	ORPHA:2584
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:603909
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Dermal atrophy, Alopec...	OMIM:617294
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo...	OMIM:601859
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera...	ORPHA:2722
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Growth delay, Sparse hair	OMIM:246500
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Necrobiosis Lipoidica	Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atrophic scars, Granuloma, Annular cutaneous...	ORPHA:542592
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Hypopigmented streaks, Conjunctivitis, Skin vesicle, Blepharitis, Abnor...	ORPHA:254478
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Non-Epidermolytic Palmoplantar Keratoderma	Papule, Erythema, Skin ulcer	ORPHA:2337
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce...	OMIM:617638
Omenn Syndrome	Alopecia, Pneumonia, Eosinophilia, Autoimmunity, Pruritus, Thickened skin, Leukocytosis, Splenome...	ORPHA:39041
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Erythema, Hypermelanotic macule	OMIM:154800
Aquagenic Palmoplantar Keratoderma	Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Systemic lupus erythe...	ORPHA:498359
Insulin-Resistance Syndrome Type A	Subcutaneous nodule, Hyperkeratosis, Generalized hyperpigmentation, Generalized hirsutism	ORPHA:2297
Dermatitis Herpetiformis	Macule, Autoimmunity, Eczema, Microcytic anemia, Pruritus, Erythema, Skin vesicle	ORPHA:1656
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Increased circulating IgE lev...	OMIM:212050
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis	ORPHA:505
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Pru...	ORPHA:79399
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ...	ORPHA:3243
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p...	ORPHA:277
Dissecting Cellulitis Of The Scalp	Pruritus, Subcutaneous nodule, Recurrent skin infections, Abnormal hair morphology	ORPHA:345
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Erythema, Chronic ...	OMIM:147060
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis, Skin nodule, Verrucous papule	ORPHA:139414
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ...	OMIM:619281
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Monocyto...	OMIM:614470
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Netherton Syndrome	Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology,...	ORPHA:634
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig...	ORPHA:69125
Palmoplantar Keratoderma, Norrbotten Recessive Type	Papule, Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono...	OMIM:616871
Ulerythema Ophryogenesis	Acne, Dry skin, Facial erythema, Erythematous papule, Dermal atrophy, Follicular hyperkeratosis, ...	ORPHA:3406
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Premature ovarian insufficiency, Short stature, Thin nail, Absent eyelashes, Hype...	OMIM:618625
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Anti...	ORPHA:486
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Acrokeratosis Verruciformis	Ridged nail, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Hyperkeratosis	OMIM:101900
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Papule, Histiocytosis	ORPHA:157997
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia...	OMIM:304790
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia...	ORPHA:331206
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis, Aplasia/Hypoplasia of the skin	ORPHA:735
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocyte physiology, Pustule, Chronic mu...	OMIM:613953
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Lymphopenia, Pneumonia, Anorexia, Eosinophilia, Recurrent pneumonia, He...	ORPHA:169160
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern...	ORPHA:79147
Immunodeficiency 7	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophilia, Neutropenia, Patchy a...	OMIM:615387
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Acquired Ichthyosis	Recurrent skin infections, Autoimmunity, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratod...	ORPHA:454
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of CD4+...	OMIM:606367
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody positivity, Sp...	OMIM:617388
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Aplasia/Hypoplasia of the skin, Hyperconvex fingernails, Dermal atrophy, Skin vesicle, ...	ORPHA:257
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Dermatofibrosarcoma Protuberans	Subcutaneous nodule, Erythema, Skin ulcer	ORPHA:31112
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma...	ORPHA:2688
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Growth delay, Atrophic scars, Palmoplantar keratoderma, Nail dystroph...	ORPHA:79402
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ...	ORPHA:443811
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Hypoparathyroidism, Familial Isolated, 1	Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Moynahan Syndrome	Alopecia, Short stature, Hyperkeratosis, Hypogonadism, Sparse hair	ORPHA:2574
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Increased circulating IgE level...	OMIM:243700
Palmoplantar Keratoderma, Epidermolytic, 1	Plantar hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hype...	OMIM:144200
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
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	Eczema, Eosinophilia, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otiti...	OMIM:618523
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro...	OMIM:619752
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Thickened skin, Lymphopenia, Eosinophilia, Arthritis	ORPHA:2582
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sparse hair,...	OMIM:607903
Kerion Celsi	Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ...	ORPHA:499
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Bronchiectasis, Ulcer...	OMIM:618394
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N...	OMIM:212360
Erythrokeratodermia Variabilis	Macule, Alopecia, Skin rash, Hypermelanotic macule, Abnormal hair morphology, Erythema, Patchy pa...	ORPHA:317
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613737
Linear Atrophoderma Of Moulin	Pruritus, Scleroderma, Inflammatory abnormality of the skin, Linear hyperpigmentation	ORPHA:140933
Hypereosinophilic Syndrome, Idiopathic	Pruritus, Splenomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I...	ORPHA:79503
Lipoid Proteinosis Of Urbach And Wiethe	Aggressive behavior, Thickened skin, Hyperkeratosis, Patchy alopecia, Skin erosion, Skin plaque, ...	OMIM:247100
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Hyperkeratosis, Irregular hyperpigmentation, Papule	ORPHA:1336
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule, Skin plaque	ORPHA:464318
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Juvenile Temporal Arteritis	Eosinophilia, Allergic rhinitis, Skin nodule, Leukocytosis, Conjunctivitis	ORPHA:26137
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Premature graying of hair, Periodontitis, Skin vesicle, S...	ORPHA:1775
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ...	OMIM:617241
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin, Generalized hyperpigmentation, Generalized hirsutism	ORPHA:2812
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Atrophic scars, Nail dystrophy	OMIM:131850
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn...	OMIM:617585
Chilblain Lupus 1	Antinuclear antibody positivity, Skin ulcer, Chilblains, Abnormality of the nail	OMIM:610448
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural...	OMIM:300400
Dowling-Degos Disease 2	Reticular hyperpigmentation, Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis	OMIM:615327
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Skin dimple, Atrophic scars, Sp...	ORPHA:79133
Hennekam-Beemer Syndrome	Macule, Generalized hyperpigmentation, Pneumonia, Pruritus, Thickened skin, Subcutaneous nodule, ...	ORPHA:2135
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Incontinentia Pigmenti	Ridged nail, Uveitis, Abnormality of skin pigmentation, Coarse hair, Pallor, Sparse hair, Atrophi...	OMIM:308300
Immunodeficiency 23	Hemolytic anemia, Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Eczema, A...	OMIM:615816
Tooth Agenesis, Selective, 8	Sparse eyebrow, Dry skin, Sparse hair	OMIM:617073
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni...	ORPHA:1008
Roifman Syndrome	Eczema, Eosinophilia, Hyperconvex nail, Recurrent pneumonia, Prominent eyelashes, Decreased circu...	ORPHA:353298
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi...	OMIM:607624
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Alopecia, Recurrent p...	OMIM:616576
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi...	OMIM:224750
Immunodeficiency 32B	Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,...	OMIM:226990
Porphyria Variegata	Hyperpigmentation of the skin, Thickened skin, Localized skin lesion, Skin vesicle, Skin erosion,...	ORPHA:79473
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Increased circulating IgE level, Recurrent pneumonia, Long eyelashes, Papule	OMIM:616069
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial nephritis, Iron deficie...	ORPHA:37042
Ichthyosis-Hypotrichosis Syndrome	Sparse hair, Ichthyosis	ORPHA:91132
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Hypopigmented skin patches, Skin u...	ORPHA:525
Subacute Cutaneous Lupus Erythematosus	Antiphospholipid antibody positivity, Rheumatoid factor positive, Psoriasiform lesion, Anti-histo...	ORPHA:163525
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Igg4-Related Aortitis	Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Antinuclear anti...	ORPHA:449400
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis, Milia	OMIM:131800
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Eosinophilic i...	OMIM:615508
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation, Hyperkeratosis, Papule	ORPHA:315
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Severe short stature, Hypopigmented skin patches, Palmoplantar keratoderma, Fingernail ...	ORPHA:2251
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Paronychia, Increased circulating IgE level, Perioral erythema, Eryth...	OMIM:614328
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Inflammat...	OMIM:615767
Hyperkeratosis Lenticularis Perstans	Papule, Aplasia/Hypoplasia of the skin, Skin ulcer	ORPHA:409
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks, Eosinophilia	OMIM:614323
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Palmoplantar keratoderm...	OMIM:618535
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increased circulating IgE level, Er...	OMIM:602450
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Autoimmunit...	ORPHA:47
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Bazex Syndrome	Parakeratosis, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, ...	ORPHA:166113
Immunodeficiency 88	Eosinophilia	OMIM:619630
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia	OMIM:613752
Eosinophilic Fasciitis	Macule, Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Subcutaneous nodule, A...	ORPHA:3165
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Elastosis Perforans Serpiginosa	Skin-colored papule, Crusting erythematous dermatitis, Cutis laxa, Hyperkeratotic papule, Erythem...	ORPHA:79148
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the...	ORPHA:79397
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Generalized keratosis follicula...	ORPHA:2890
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Pruritus, Erythema, Periauricular skin pits, Atrophic scars, Ski...	ORPHA:79100
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism, Neutropenia	ORPHA:90023
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil...	ORPHA:229717
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Alopecia, Scaling skin on fingertip, Hypergranulosis, Honeycomb palmoplantar hyper...	ORPHA:79395
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc...	ORPHA:3261
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Melanocytic nevus, Sparse hair, Abnormal toenail morphology, Sparse ...	ORPHA:1818
Omenn Syndrome	Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Thickened skin, Splenomegaly, Thromb...	OMIM:603554
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Thin ski...	ORPHA:2985
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Lymphopenia, Myositis, Antiphospholipid antibody positivity, Skin ...	OMIM:615934
Reticulate Acropigmentation Of Kitamura	Macule, Hyperkeratosis	OMIM:615537
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Pruritus, Subcutaneous nodule, Skin ulcer, Arth...	ORPHA:231
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Erythematous macule, Increased ...	OMIM:615559
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn...	OMIM:102700
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythem...	ORPHA:346
Erosive Pustular Dermatosis Of The Scalp	Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythema, Skin erosion	ORPHA:222
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Eosinophilopenia	Decreased eosinophil count, Autoimmunity, Allergic rhinitis	OMIM:131430
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Atopic dermatitis	ORPHA:2902
Lupus Erythematosus Tumidus	Urticarial plaque, Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positiv...	ORPHA:90283
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Skin ulcer, Decreased circulating antibody level, Leukopen...	ORPHA:33355
Oliver-Mcfarlane Syndrome	Alopecia, Severe short stature, Hypogonadotropic hypogonadism, Long eyebrows, Cryptorchidism, Lon...	OMIM:275400
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k...	ORPHA:2897
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerato...	OMIM:158310
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Short stature, Widow's peak, Sparse hair, Intrauterine growth retardation, Thick eyebrow	OMIM:606242
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Drug Reaction With Eosinophilia And Systemic Symptoms	Macule, Skin rash, Eosinophilia, Pustule, Myocarditis, Erythema, Hepatitis, Thyroiditis, Tubuloin...	ORPHA:139402
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Self-injurious behavior, Ichthyo...	ORPHA:494
Dermoodontodysplasia	Sparse scalp hair, Melanocytic nevus, Fingernail dysplasia, Thin skin, Trichodysplasia, Dry skin,...	ORPHA:1660
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Incontinentia Pigmenti	Uveitis, Abnormality of skin pigmentation, Abnormal toenail morphology, Infectious encephalitis, ...	ORPHA:464
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Systemic Lupus Erythematosus 17	Lymphopenia, Alopecia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Thrombocytop...	OMIM:301080
Prolidase Deficiency	Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the skin, Abnormal fingernail morpholo...	ORPHA:742
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency 50	Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level	OMIM:300988
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Microcytic anemia, Dysphagia, Cutis laxa, Abnormality of skin pigmentation, Hyperkeratosi...	OMIM:612379
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No...	ORPHA:87503
Bathing Suit Ichthyosis	Parakeratosis, Alopecia, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Palmoplantar ...	ORPHA:100976
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Syndromic X-Linked Intellectual Disability 7	Hypogonadism, Cryptorchidism, Short stature, Sparse body hair	ORPHA:85274
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumo...	OMIM:619644
Juvenile Hyaline Fibromatosis	Subcutaneous nodule, Papule, Aplasia/Hypoplasia of the skin, Skin ulcer	ORPHA:2028
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Arthritis, Anemia	OMIM:607115
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Cheilitis, Decreased circulating anti...	ORPHA:90045
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, ...	OMIM:607602
Roifman Syndrome	Eosinophilia, Eczema, Splenomegaly, Recurrent pneumonia, Prominent eyelashes, Recurrent otitis media	OMIM:616651
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Sparse hair, Erythroderma, Chronic...	ORPHA:313
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Hepatosplenomegaly, Erythematous plaque, Hemophagocytosis, Erythematous papule	ORPHA:86884
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll...	OMIM:616099
Autoimmune Hypoparathyroidism	Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seiz...	ORPHA:36913
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
2P21 Microdeletion Syndrome	Hypogonadism, Hypocalcemia	ORPHA:163693
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Subcutaneous nodule, Sparse or absent eyelashes, Coarse hair, ...	ORPHA:113
Aplasia Cutis Congenita	Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin	ORPHA:1114
Dermoodontodysplasia	Dry skin, Thin skin, Nail dysplasia, Trichodysplasia	OMIM:125640
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal testis morphology, Pi...	ORPHA:202
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy...	OMIM:615821
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke...	OMIM:619208
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Thin eyebrow, Abnormally low T cell receptor excision circle level	OMIM:618092
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Skin ulcer, Anemia,...	ORPHA:507
Adamantinoma	Hypercalcemia	ORPHA:55881
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Autoimmunity, Myoc...	ORPHA:183
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry skin	OMIM:129490
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Leukocyte Adhesion Deficiency Type Ii	Broad eyebrow, Neutrophilia, Severe periodontitis, Microcytic anemia, Keratitis, Leukocytosis, Re...	ORPHA:99843
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ...	OMIM:618048
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Perifolliculitis, Alopecia of scalp	OMIM:260910
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur...	OMIM:619824
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Antinucl...	OMIM:620321
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hyperkerat...	OMIM:602400
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Erythem...	OMIM:614204
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Scaling skin, Nail dystrophy, Spar...	OMIM:604536
Idiopathic Trachyonychia	Ridged nail, Thin nail, Autoimmune thrombocytopenia, Concave nail, Atopic dermatitis, Nail pits, ...	ORPHA:79153
Phenylketonuria	Hyperactivity, Eczema, Aggressive behavior, Blue irides, Dry skin, Attention deficit hyperactivit...	OMIM:261600
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Alopecia, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform eryt...	OMIM:242300
Prolidase Deficiency	Petechiae, Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting erythematous der...	OMIM:170100
Xq27.3Q28 Duplication Syndrome	Short stature, Cryptorchidism, Hypogonadism, Sparse body hair, Intrauterine growth retardation, D...	ORPHA:261483
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Localized skin lesion, Increased ci...	ORPHA:1163
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla...	ORPHA:312
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Hyperpigmentation of the skin, Skin ulcer, Hyperkeratosis, ...	ORPHA:454831
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Pruritus, Splenomegaly, Le...	ORPHA:98849
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, Neutropenia, B lymphocytopen...	OMIM:150550
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Eczema, Oligoarthritis, Decreased circulating total IgM, T lymphocytopenia, Decrease...	OMIM:619510
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Acrokeratoelastoidosis Of Costa	Yellow papule, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Skin plaqu...	ORPHA:38
Bazex-Dupre-Christol Syndrome	Hyperpigmentation of the skin, Eczema, Trichorrhexis nodosa, Atopic dermatitis, Coarse hair, Mili...	OMIM:301845
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Abnormal immunoglobulin level, Antinuclear antibody positiv...	ORPHA:90159
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythema, Follicu...	OMIM:308800
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Galloway-Mowat Syndrome 6	Abnormal repetitive mannerisms, Hypoalbuminemia, Paroxysmal bursts of laughter	OMIM:618347
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp, Dermal atrophy	OMIM:136300
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula...	OMIM:308230
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker...	OMIM:617526
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Neonatal Lupus Erythematosus	Hemolytic anemia, Parakeratosis, Pancytopenia, Skin rash, Maculopapular exanthema, Aplastic anemi...	ORPHA:398124
Acral Peeling Skin Syndrome	Macule, Eczema, Erythema, Papule, Scaling skin, Ichthyosis, Skin erosion, Hyperpigmentation of th...	ORPHA:263534
Lipoid Proteinosis	Acne, Pustule, Thickened skin, Subcutaneous nodule, Hyperkeratosis, Dysphagia, Alopecia of scalp,...	ORPHA:530
Eosinophilic Gastroenteritis	Allergic rhinitis, Eosinophilia, Leukocytosis, Atopic dermatitis, Dysphagia, Anemia	ORPHA:2070
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit...	ORPHA:247585
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
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, Thin skin, Skin ulcer, Purpura	ORPHA:743
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a...	OMIM:146110
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Hyperkeratosis, Freckling, Pili torti	ORPHA:1573
Esophagitis, Eosinophilic, 2	Eosinophilia, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Esophagitis, Dysphagia	OMIM:610247
Idiopathic Localized Lipodystrophy	Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea, Hyp...	ORPHA:90158
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Pyoderma gangrenosum, Sterile arthritis, H...	OMIM:604416
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P...	OMIM:301082
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Reticular h...	OMIM:604173
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi...	OMIM:619220
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Cryptorchidism, Growth delay, Hypogonadism, Long eyelashes, Sparse hair	ORPHA:3363
Dermatitis, Atopic	Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Facial erythem...	OMIM:603165
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, ...	ORPHA:530838
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,...	ORPHA:542643
Schnitzler Syndrome	Macule, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Increased circulating IgM level, Arthrit...	ORPHA:37748
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Coffin-Siris Syndrome 8	Sparse scalp hair, Hyperactivity, Eczema, Aggressive behavior, Self-injurious behavior, Long eyel...	OMIM:618362
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, Colonic eosinophilia	OMIM:618999
Sézary Syndrome	Alopecia, Abnormal immunoglobulin level, Pruritus, Splenomegaly, Dry skin, Palmoplantar keratoder...	ORPHA:3162
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Pruritus, Erythema, Skin erosion, Abnormality of tumor necrosis facto...	ORPHA:83453
Coccidioidomycosis	Urticarial plaque, Abnormality of the spleen, Verrucous papule, Increased circulating IgG level, ...	ORPHA:228123
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy...	OMIM:300918
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Abnormal fingernail morphology, Thin skin, Sparse body hair	ORPHA:1810
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Buerger Disease	Skin ulcer	ORPHA:36258
Thrombocytopenia 5	Petechiae, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N...	OMIM:616216
Hypotonia-Cystinuria Syndrome	Polyphagia, Hypergonadotropic hypogonadism, Hypocalcemia	OMIM:606407
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect...	ORPHA:678
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Chikungunya	Macule, Maculopapular exanthema, Skin rash, Pruritus, Erythema nodosum, Crusting erythematous der...	ORPHA:324625
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Generalized...	ORPHA:2269
Indolent Systemic Mastocytosis	Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology	ORPHA:98848
Chronic Graft Versus Host Disease	Fasciitis, Pancytopenia, Alopecia, Anorexia, Thickened skin, Urinary bladder inflammation, Erythe...	ORPHA:99921
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, A...	ORPHA:251393
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Erythema, Hyperkeratosis, Ich...	ORPHA:816
Angiostrongyliasis	Increased circulating IgA level, Pruritus, Hypereosinophilia, Increased circulating specific IgE ...	ORPHA:74
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, Splenomegaly, H...	OMIM:300635
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Epidermolytic Palmoplantar Keratoderma	Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar h...	ORPHA:2199
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Multiple cafe-au-lait spots, Leukemia, Thrombocytopenia	OMIM:614082
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Myositis, Eosinophilia	OMIM:253600
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm...	OMIM:615214
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,...	ORPHA:411593
Acrogeria	Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer	ORPHA:2500
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology, Nevus	ORPHA:398189
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Pruritus, Splenomegaly, Sparse eyebrow, Sc...	OMIM:607626
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro...	ORPHA:75564
Immunodeficiency 27A	Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Anorexia, Splenomegaly, L...	OMIM:209950
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu...	OMIM:612281
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Familial Keratoacanthoma	Papule, Subcutaneous nodule, Skin ulcer	ORPHA:493
Immunodeficiency 104	Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med...	OMIM:608971
Focal Facial Dermal Dysplasia Type Iii	Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Redundant skin, Highly arched eyebrow, Ab...	ORPHA:1807
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor e...	OMIM:618806
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Hyperkeratosis, Keratoconjunctiviti...	ORPHA:238468
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt...	OMIM:604777
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Freckling, Dry skin, Fine hair, Hyperkeratosis, Keratoconjunctivitis...	OMIM:601675
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Monocytopenia, Lymphopenia, Pancytopenia, D...	OMIM:618986
Pemphigus Erythematosus	Autoimmunity, Focal dermal aplasia/hypoplasia, Acantholysis, Antinuclear antibody positivity, Ant...	ORPHA:79480
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Leuko...	OMIM:616295
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Erythematous pl...	OMIM:618531
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma, Alo...	OMIM:608649
Proteus Syndrome	Epidermal nevus, Splenomegaly, Depigmentation/hyperpigmentation of skin, Hyperkeratosis, Nevus	OMIM:176920
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr...	OMIM:616050
Aredyld	Generalized hypotrichosis	OMIM:207780
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Arthritis, Increased circul...	ORPHA:69126
Progeroid Syndrome, Petty Type	Brittle hair, Short stature, Redundant skin, Abnormal hair morphology, Cutis laxa, Abnormality of...	ORPHA:2963
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifor...	OMIM:613576
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Nail dystrophy, Ichthyosis, Sparse hair, Tiger tail banding	OMIM:619692
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Widow's peak, Periodontitis, Compulsive behaviors, Reduction of neutroph...	OMIM:266265
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Short stature, Absent facial hair, Sparse facial hair, Low poster...	ORPHA:2183
Pachyonychia Congenita	Alopecia, Epidermoid cyst, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arra...	ORPHA:2309
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Localized ...	ORPHA:3392
Leopard Syndrome 3	Few cafe-au-lait spots, Curly hair, Numerous nevi, Epidermal hyperkeratosis, Low posterior hairli...	OMIM:613707
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism, Hypocalcemia	OMIM:612462
Chronic Mucocutaneous Candidiasis	Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, Cheilitis, Hepatitis, Broad nail, ...	ORPHA:1334
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, Hyperkeratosis, Congeni...	OMIM:242100
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Enteroco...	ORPHA:2686
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Chromomycosis	Erythematous macule, Pruritus, Keratitis, Hyperparakeratosis, Subcutaneous nodule, Hypopigmented ...	ORPHA:182
Idiopathic Hypereosinophilic Syndrome	Cholangitis, Colitis, Pallor, Papule, Neutrophilia, Leukocytosis, Chronic hepatitis, Hepatospleno...	ORPHA:3260
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey...	OMIM:601952
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Cryptorchidism, Fine hair	ORPHA:1174
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Short stature, Growth delay, Sparse ...	ORPHA:2850
Immunodeficiency 22	Pericarditis, Abscess, Autoimmunity, Thrombocytopenia, Decreased circulating total IgM, Panniculi...	OMIM:615758
Peeling Skin Syndrome 4	Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Ichthyosis, Orthokeratosis	OMIM:607936
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Skin ulcer, Pallor, Anemia	ORPHA:848
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Skin dimple, Thin skin, Sparse hair, Intrauterine growth retardation, Aplasia/Hypoplasia of the e...	ORPHA:261304
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Paronychia, Subcutaneous nodule, Neutr...	ORPHA:228119
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin, Attention deficit hyperactivity disorder, Ichthyosis	ORPHA:461
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Eosinophilia, Anorexia, Autoimmunity, Hepatitis, Dry skin, ...	ORPHA:199299
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Anorexia, Hypomagnesemia	OMIM:175500
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Genetic Steroid-Resistant Nephrotic Syndrome	Irritability, Hypoalbuminemia	ORPHA:656
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyperker...	ORPHA:79151
Subcorneal Pustular Dermatosis	Autoimmunity, Pruritus, Pustule, Erythema, Systemic lupus erythematosus, Increased circulating an...	ORPHA:48377
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Increased ci...	OMIM:615513
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Diffuse Neonatal Hemangiomatosis	Abnormal vagina morphology, Hypercalcemia	ORPHA:2123
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythem...	OMIM:612843
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Pallor, Albinism	ORPHA:2786
Thrombocytopenia 1	Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet...	OMIM:313900
Mast Cell Sarcoma	Mastocytosis, Splenomegaly	ORPHA:66661
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Pseudohypoparathyroidism Type 1B	Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc...	ORPHA:94089
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ...	ORPHA:477
Atelis Syndrome 1	Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Thrombocytopenia, Bronchiecta...	OMIM:620184
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Short stature, Hyperkeratosis, Coarse hair, Sparse hair	ORPHA:1883
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Lymphopenia, Erythroderma, Decreased circulating antibody level	OMIM:617425
Alopecia Antibody Deficiency	Short stature, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of ...	ORPHA:1006
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune...	ORPHA:572
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Griscelli Syndrome Type 2	Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair...	ORPHA:79477
Lead Poisoning	Skin rash, Anorexia, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T...	ORPHA:330015
Heyn-Sproul-Jackson Syndrome	Sparse hair, Intrauterine growth retardation, Severe short stature	OMIM:618724
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s...	OMIM:617337
Juvenile Arthritis	Antinuclear antibody positivity, Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Ichthyosis With Confetti	Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Hypoplastic nipples, Congenital nonbullous ich...	OMIM:609165
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Recurrent loss of toenails and fingernails, Crusting erythematous dermatitis, Erythema, Palmoplan...	ORPHA:158673
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Ollier Disease	Anemia, Subcutaneous nodule, Skin ulcer	ORPHA:296
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia	OMIM:618805
Boutonneuse Fever	Macule, Skin rash, Maculopapular exanthema, Petechiae, Skin nodule, Increased circulating IgG lev...	ORPHA:83313
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Thin nail, Hypergranulosis, Sho...	OMIM:257980
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Papu...	ORPHA:129
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ...	OMIM:619773
Trichothiodystrophy 8, Nonphotosensitive	Eczema, Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:619691
Lessel-Kubisch Syndrome	Hypogonadism, Premature graying of hair, Short stature, Sparse pubic hair	OMIM:618681
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Immunodeficiency 67	Transient neutropenia, Increased circulating IgE level, Liver abscess	OMIM:607676
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Noonan Syndrome 6	Curly hair, Short stature, Long eyebrows, Cryptorchidism, Low posterior hairline, Growth delay, M...	OMIM:613224
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Palmoplantar kera...	ORPHA:659
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Bone Marrow Failure Syndrome 4	Eczema, Thrombocytopenia, Decreased circulating antibody level, Leukopenia, Bone marrow hypocellu...	OMIM:618116
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Sacral dimple, Decreased proportion of CD8-positive T cells, Increased circulating I...	ORPHA:508533
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy...	OMIM:242150
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Preauricular pit, Cryptorchidism, Sacral dimple, Sparse hair	OMIM:273390
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis,...	OMIM:610768
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea...	OMIM:614700
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Micropenis, Hypocalcemic seizures	OMIM:241410
Elastoderma	Eczema, Skin nodule, Cutis laxa, Premature skin wrinkling, Erysipelas, Papule	ORPHA:228240
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Anorexia	ORPHA:2494
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Splenomegaly, Scarring alopecia of scalp, Ic...	ORPHA:59303
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Filippi Syndrome	Postnatal growth retardation, Cryptorchidism, Sparse hair, Intrauterine growth retardation, Front...	OMIM:272440
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Igg4-Related Kidney Disease	Rheumatoid factor positive, Lymphadenitis, Increased circulating IgG level, Tubulointerstitial ne...	ORPHA:449395
Cystic Echinococcosis	Abscess, Eosinophilia, Localized skin lesion, Membranous nephropathy, Increased circulating antib...	ORPHA:400
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis,...	OMIM:145250
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Nicolaides-Baraitser Syndrome	Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Excessive wrinkl...	ORPHA:3051
Reni Syndrome	Hypertriglyceridemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Micropenis	OMIM:617575
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Pure...	ORPHA:436159
Liver Failure, Infantile, Transient	Irritability, Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Autoimmunity, Splenomegaly, Incr...	OMIM:618495
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Eczema, Thrombocytopenia, P...	OMIM:617052
Gand Syndrome	Sparse hair, Hyperactivity, Tics, Inappropriate laughter	OMIM:615074
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin	OMIM:602723
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop...	OMIM:148700
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Septate vagina, Uterus didelphys, Hypocalcemia, Aplasia of the uterus, Vaginal atresia, Hypocalce...	ORPHA:2237
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Urticarial plaque, Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Leukocytosis, Skin ulc...	OMIM:615688
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Skin ulcer	ORPHA:2218
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Subcutaneous nodule, Hyperkeratosis, Self-injurious behavior, Agitation	OMIM:618339
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Cryptorchidism, Abnormality of the uterus, Hypocalcemia, Abnormal fallopian tube morphology, Micr...	ORPHA:1655
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Pressure-Induced Localized Lipoatrophy	Skin nodule, Inflammatory abnormality of the skin, Erythema	ORPHA:90160
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Vitiligo, Recurrent aphthous stomatitis, Otitis media, Chronic oral cand...	ORPHA:275
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Igg4-Related Submandibular Gland Disease	Cholangitis, Increased circulating IgG4 level, Eosinophilia, Autoimmunity, Increased circulating ...	ORPHA:449432
Immunodeficiency 58	Colitis, Scaling skin, Chronic otitis media, Recurrent cutaneous abscess formation, Psoriasiform ...	OMIM:618131
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno...	OMIM:308240
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Focal Facial Dermal Dysplasia 3, Setleis Type	Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes	OMIM:227260
Chronic Granulomatous Disease	Macule, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Hypermelanotic macule, Sple...	ORPHA:379
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Anorexia, Pustule, Paronychia, Erythema, Chei...	ORPHA:37
Congenital Disorder Of Glycosylation, Type Ih	Cryptorchidism, Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Intermediate Osteopetrosis	Hypocalcemia	ORPHA:210110
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Irritability, H...	OMIM:603553
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor...	ORPHA:98850
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea...	ORPHA:276
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Wiskott-Aldrich Syndrome 2	Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec...	OMIM:614493
Ataxia-Telangiectasia	Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Decreased circulating antibody level, P...	ORPHA:100
Limited Cutaneous Systemic Sclerosis	Autoimmunity, Hypopigmented skin patches, Skin ulcer, Abnormality of skin pigmentation, Dysphagia	ORPHA:220402
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Skin ulcer, Fine hair, Abnormality of skin pigmentation, Hyperker...	ORPHA:1806
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Classic Phenylketonuria	Hypopigmentation of hair, Eczema, Lack of skin elasticity, Self-injurious behavior, Attention def...	ORPHA:79254
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair, Short stature	OMIM:619985
Ifap Syndrome 2	Ichthyosis follicularis, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctiviti...	OMIM:619016
Brooke-Spiegler Syndrome	Skin-colored papule, Skin nodule, Skin ulcer, Nodular changes affecting the eyelids	ORPHA:79493
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypergonadotropic hypogonadism, Depression, Irritability, Hyperphosphatemia, Hypocalc...	ORPHA:79444
Pachyonychia Congenita 2	Subungual hyperkeratosis, Sparse scalp hair, Dry hair, Epidermoid cyst, Angular cheilitis, Sparse...	OMIM:167210
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Aplasia cutis congenita, Cryptorchidism, Fine hair, Growth delay, Sparse or...	ORPHA:217346
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry...	ORPHA:1028
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Facial erythema...	ORPHA:1010
Peeling Skin Syndrome 5	Hyperkeratosis, Scaling skin	OMIM:617115
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Rhizomelic Chondrodysplasia Punctata	Alopecia, Rhizomelia, Short stature, Growth delay, Dry skin, Sparse body hair	ORPHA:177
Activated Pi3K-Delta Syndrome	Pneumonia, Autoimmunity, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Incr...	ORPHA:397596
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Erythematous plaque, Palmoplantar kerat...	OMIM:173200
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Decreased fertility, G...	OMIM:234050
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au...	OMIM:616100
Porphyria Cutanea Tarda, Type I	Eczema, Hyperpigmentation of the skin, Hypertrichosis	OMIM:176090
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Abnormal fingernail morphology, Bronchiectasis	ORPHA:1164
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Noonan Syndrome 8	Curly hair, Eczema, Hyperkeratosis, Palmoplantar cutis laxa, Hyperpigmentation of the skin	OMIM:615355
Cholera	Hyponatremia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalcemia	ORPHA:173
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Cryptorchidism, Micropenis, Hypospadias, Hypercalcemia	OMIM:614732
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l...	OMIM:618108
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Autosomal Dominant Hypocalcemia	Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability	ORPHA:428
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid factor positive, Pruritus, Erythema, Rheumatoid ...	ORPHA:79099
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Dysphagia, Complement d...	ORPHA:449427
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Erythema, Malar rash,...	ORPHA:330058
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Rapp-Hodgkin Syndrome	Decreased number of sweat glands, Short stature, Sparse eyelashes, Supernumerary nipple, Slow-gro...	OMIM:129400
Griscelli Syndrome	Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morphology, Splenomegal...	ORPHA:381
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Antinuclear antibody positivity, Colitis, Lupus an...	OMIM:616744
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro...	ORPHA:3077
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Hypergonadotropic hypogonadism, Short stature, Secondary amenorrhea, Sparse hair, Dry skin	OMIM:268020
Aicardi-Goutieres Syndrome 5	Chilblains, Increased circulating interferon-gamma concentration, Scaling skin, Dry skin, Thrombo...	OMIM:612952
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Petechiae, Eczema, Hyperpigmented/hypopigmented macules, Thickened skin, Atopic der...	OMIM:620331
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Myositis, Antiphospholipid antibody positivity, Skin rash, Alopecia, Discoid lupus r...	ORPHA:93552
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Trichothiodystrophy 3, Photosensitive	Brittle hair, Increased circulating IgA level, Ichthyosis, Congenital ichthyosiform erythroderma,...	OMIM:616395
Rothmund-Thomson Syndrome	Plantar hyperkeratosis, Porokeratosis, Skin rash, Aplastic anemia, Sparse eyelashes, Alopecia tot...	ORPHA:2909
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Hypocalcemic Vitamin D-Dependent Rickets	Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Hemophagocytic Lymphohistiocytosis, Familial, 4	Skin rash, Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Loeffler Endocarditis	Pericarditis, Eosinophilia	ORPHA:75566
Hypophosphatasia	Irritability, Hypercalcemia	ORPHA:436
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Short stature, Sparse eyelashes, Palmoplantar hyperkeratosis, Alopeci...	OMIM:615280
Cronkhite-Canada Syndrome	Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Anorexia, Hypoplastic to...	ORPHA:2930
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Hyperactivity, Aggressive behavior, Sparse eyebrow, Synophrys, Hyposegmentation of ne...	OMIM:620075
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis, Skin nodule	ORPHA:199267
Catastrophic Antiphospholipid Syndrome	Antiphospholipid antibody positivity, Anticardiolipin IgG antibody positivity, Myocarditis, Skin ...	ORPHA:464343
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen	ORPHA:94059
Piebald Trait-Neurologic Defects Syndrome	Macule, Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypop...	ORPHA:2885
Reynolds Syndrome	Skin rash, Pruritus, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Dysphagia, Irregular hype...	ORPHA:779
Acquired Purpura Fulminans	Macule, Erythematous macule, Pyoderma gangrenosum, Macular purpura, Thrombocytopenia	ORPHA:49566
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Lymphatic Filariasis	Glomerulonephritis, Circulating immune complexes, Lymphadenitis, Orchitis, Knee osteoarthritis, E...	ORPHA:2035
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Petechiae,...	ORPHA:540
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Neutrophilia, Abscess, Pustule, Splenomegaly, Hyperkeratosis, Stomatitis	OMIM:612852
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced p...	OMIM:617443
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Neutrophilic Dermatosis, Acute Febrile	Increased circulating interleukin 6 concentration, Erythema, Pyoderma gangrenosum, Panniculitis, ...	OMIM:608068
Congenital Disorder Of Glycosylation, Type Ig	Small scrotum, Hypospadias, Cryptorchidism, Hypocalcemia, Micropenis	OMIM:607143
Takayasu Arteritis	Increased inflammatory response, Anorexia, Subcutaneous nodule, Skin ulcer, Arthritis, Inflammato...	ORPHA:3287
Congenital Short Bowel Syndrome	Sparse hair, Short stature	ORPHA:2301
Acrofacial Dysostosis, Palagonia Type	Aplasia/Hypoplasia of the skin, Short stature, Sparse eyelashes, Low anterior hairline, Dermal at...	ORPHA:1787
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Dysphagia, Hyperp...	ORPHA:94093
Ramon Syndrome	Hyperkeratosis, Abnormality of retinal pigmentation, Generalized hirsutism	ORPHA:3019
Ichthyosis, Congenital, Autosomal Recessive 8	Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Chromosome Xq27.3-Q28 Duplication Syndrome	Short stature, Cryptorchidism, Hypogonadism, Sparse body hair, Intrauterine growth retardation, D...	OMIM:300869
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Timothy Syndrome	Hypocalcemia	OMIM:601005
Superficial Epidermolytic Ichthyosis	Erythema, Palmoplantar keratoderma, Thin skin, Acantholysis	ORPHA:455
Cutaneous Small Vessel Vasculitis	Recurrent skin infections, Skin rash, Erythema, Subcutaneous nodule, Papule, Purpura	ORPHA:889
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Melanocytic nevus, Fine...	ORPHA:978
Rhabdoid Tumor	Irritability, Hypercalcemia	ORPHA:69077
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Thin skin, Short eyelashes, Palmar hyperkeratosis, Dry skin, D...	OMIM:150400
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma	OMIM:133200
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia, Cryptorchidism	OMIM:618440
Q Fever	Rheumatoid factor positive, Anorexia, Cholecystitis, Lupus anticoagulant, Infectious encephalitis...	ORPHA:781
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Periorbital...	OMIM:614941
Alveolar Echinococcosis	Liver abscess, Cholangitis, Eosinophilia, Abnormal spleen morphology, Increased circulating antib...	ORPHA:284
Gracile Bone Dysplasia	Micropenis, Hypocalcemia	OMIM:602361
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Pruritus, Ichthyosis, Palmoplantar keratoderma, Erythroderma, Abnormality of...	ORPHA:79394
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280785
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Verrucous papule, Sparse scalp hair	ORPHA:2611
Even-Plus Syndrome	Highly arched eyebrow, Synophrys, Atopic dermatitis, Sparse hair, Aplasia cutis congenita	OMIM:616854
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Sanjad-Sakati Syndrome	Cryptorchidism, Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo...	OMIM:614457
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Shukla-Vernon Syndrome	Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Sparse hair, Abnormal...	OMIM:301029
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Premature grayin...	ORPHA:3322
Familial Multiple Nevi Flammei	Nevus flammeus, Skin ulcer, Hypermelanotic macule, Papule	ORPHA:624
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Nail pits, Reticular hyperpigmentation,...	OMIM:127550
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hypopigmentation ...	OMIM:214500
Cole Disease	Hypopigmented macule, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:615522
Lelis Syndrome	Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Palmoplantar hyperkeratosis, Sp...	ORPHA:140936
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Fine hair, Ichthyosis, Aca...	ORPHA:2221
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Glomerulonephritis, Autoimmunity, Synovitis, Arthritis, Decreased circulating compleme...	ORPHA:567544
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Harlequin Ichthyosis	Hyperkeratosis, Self-injurious behavior, Congenital ichthyosiform erythroderma, Ichthyosis, Eryth...	ORPHA:457
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Dermal atrophy, ...	ORPHA:69735
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Congenital Enterovirus Infection	Irritability, Hypoalbuminemia, Hyperammonemia	ORPHA:292
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Autoimmune Hepatitis	Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Glomerulonephritis, Antinucle...	ORPHA:2137
Costello Syndrome	Deep-set nails, Generalized hyperpigmentation, Abnormal fingernail morphology, Redundant skin, Co...	ORPHA:3071
Adiposis Dolorosa	Recurrent skin infections, Autoimmunity, Sparse axillary hair, Sparse pubic hair, Subcutaneous no...	ORPHA:36397
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Short stature, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Spar...	OMIM:300953
Mitochondrial Complex I Deficiency, Nuclear Type 33	Bronchiectasis, Dysphagia, Aspiration pneumonia, Neutropenia, Sparse hair	OMIM:618253
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Cryptorchidism, Micropenis, Hypoproteinemia, Hypocalcemia	OMIM:235255
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Acute leukemia, Attention deficit hyperactivity disorder, Ichthyosis	ORPHA:281090
Centrifugal Lipodystrophy	Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Erythema, Scaling skin	ORPHA:90156
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Progressive hyperpigmentation, Eczema, Allergic rhinitis, Pruritus,...	ORPHA:330064
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Abs...	OMIM:148210
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Albinism, Impaired platelet aggregation, Hypopigmentation of the skin, ...	OMIM:614072
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Osteomyelitis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Atypical scarring of ...	ORPHA:90186
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Menkes Disease	Alopecia, Brittle hair, Short stature, Cutis laxa, Sparse hair, Intrauterine growth retardation	OMIM:309400
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Thickened skin, Skin rash, Thin skin	ORPHA:1658
Blepharocheilodontic Syndrome 1	Nail dysplasia, Small nail, Sparse hair, Aplasia cutis congenita over the scalp vertex, High ante...	OMIM:119580
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Dysphagia, Depression, Decreased serum zinc, Hypoalbuminemia, Decreased cir...	ORPHA:89842
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro...	OMIM:614868
Systemic Sclerosis	Acral ulceration, Alopecia, Digital pitting scar, Thickened skin, Digital ulcer, Sclerodactyly, P...	ORPHA:90291
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Autoimmunity, Splenomegaly, Bronchiectasis, Chronic lymphatic leukemia, Increased ci...	OMIM:616005
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H...	OMIM:607823
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypergonadotropic hypogonadism, Depression, Irritability, Hyperphosphatemia, Hypocalc...	ORPHA:79443
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti...	OMIM:614576
Dermatoosteolysis, Kirghizian Type	Aplasia/Hypoplasia of the skin, Keratitis, Osteoarthritis, Skin ulcer, Dystrophic fingernails, Ab...	ORPHA:1657
Adult-Onset Still Disease	Pericarditis, Neutrophilia, Skin rash, Pruritus, Myocarditis, Leukocytosis, Splenomegaly, Erythem...	ORPHA:829
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:1667
Kikuchi-Fujimoto Disease	Erythematous macule, Anorexia, Leukopenia, Lymphocytosis, Neutropenia, Papule, Macule, Alopecia, ...	ORPHA:50918
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ...	OMIM:615023
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Thickened skin, White ha...	ORPHA:79435
Cortisone Reductase Deficiency 1	Alopecia, Acne, Hirsutism	OMIM:604931
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Bare Lymphocyte Syndrome, Type I	Skin ulcer	OMIM:604571
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia	OMIM:617021
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ...	ORPHA:727
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma...	ORPHA:33110
Flynn-Aird Syndrome	Alopecia, Dermal atrophy, Skin ulcer	ORPHA:2047
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Inappropriate laughter, Hypocalcemia	OMIM:618476
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Cutaneous mastocytosis	OMIM:248910
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Increased circulating IgG4 level, Eosinophilia, Keratitis, Orchitis, Anti...	ORPHA:449563
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis	OMIM:260570
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Obesity Due To Prohormone Convertase I Deficiency	Acanthosis nigricans, Hypopigmentation of the skin, Polyphagia, Red hair	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Acanthosis nigricans, Hypopigmentation of the skin, Polyphagia, Red hair	ORPHA:71526
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Antineutrophil antibody positivity, Splenomegaly, Neutropenia, B lym...	OMIM:301078
Intellectual Developmental Disorder, Autosomal Recessive 5	Sparse hair, Synophrys, Eczema, Thick eyebrow	OMIM:611091
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Kindler Epidermolysis Bullosa	Aplasia/Hypoplasia of the skin, Recurrent skin infections, Erythema, Cheilitis, Abnormality of sk...	ORPHA:2908
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Recurrent skin infections, Splenomegaly, Decreased circulating total IgM, Leukopenia...	OMIM:620210
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Autoimmunity, Alopecia, Pruritus, Erythema, Skin ulcer, Arthri...	ORPHA:93672
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Aplasia cutis congenita on trunk or limbs, Recurrent skin infections, Hyperpigmentation...	ORPHA:79396
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth...	ORPHA:822
Cushing Disease	Sparse scalp hair, Striae distensae, Acne, Hyperpigmentation of the skin, Leukocytosis, Recurrent...	ORPHA:96253
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia	OMIM:617093
Aicardi-Goutieres Syndrome 9	Irritability, Micropenis, Hypoalbuminemia, Self-mutilation	OMIM:619487
Erythema Nodosum, Familial	Erythema nodosum, Erythema	OMIM:132990
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Anorexia, Thickened skin, Ocular albinism, Melanocyti...	ORPHA:79430
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Hypogonadism, Sparse hair, Mult...	ORPHA:2316
Polyarteritis Nodosa	Erythema, Subcutaneous nodule, Skin ulcer	ORPHA:767
Cardiocranial Syndrome, Pfeiffer Type	Short stature, Abnormal hair whorl, Cryptorchidism, Growth delay, Sparse hair, Intrauterine growt...	ORPHA:2872
Anauxetic Dysplasia 2	Short stature, Nail dysplasia, Small nail, Sparse hair, Intrauterine growth retardation	OMIM:617396
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia	OMIM:602579
Zika Virus Disease	Maculopapular exanthema, Skin rash, Pruritus, Thrombocytopenia, Retinal pigment epithelial mottli...	ORPHA:448237
Dermatomyositis	Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Aplasia/Hypoplasia of the s...	ORPHA:221
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Cu...	ORPHA:39812
Trichohepatoenteric Syndrome 2	Brittle hair, Woolly hair, Uncombable hair, Sparse hair, Intrauterine growth retardation, Trichor...	OMIM:614602
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Sarcoidosis	Hemolytic anemia, Alopecia, Maculopapular exanthema, Eosinophilia, Hyperpigmentation of the skin,...	ORPHA:797
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Arthritis, Recurrent aphthous stomatitis	OMIM:611762
Avian Influenza	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react...	ORPHA:454836
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short stature, Decreased fertility, Hypogonadism, Sparse body hair, Decreased testicular size	ORPHA:2234
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus, Pallor	ORPHA:90036
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:289390
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Werner Syndrome	Abnormality of retinal pigmentation, Sparse scalp hair, Aplasia/Hypoplasia of the skin, Abnormal ...	ORPHA:902
Cardiofaciocutaneous Syndrome	Brittle hair, Generalized hyperpigmentation, Slow-growing hair, Redundant skin, Abnormal eyelash ...	ORPHA:1340
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Dry skin, Scaling skin, Erythroderma	OMIM:609180
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Recurrent pneumonia, Bronchiectasis, Reticular...	OMIM:301220
Leprosy	Urticarial plaque, Absent eyebrow, Alopecia, Hypopigmented macule, Abnormality of the spleen, Ski...	ORPHA:548
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Thickened skin, Ocular albinism, Hyperkeratosis, Freckling, H...	ORPHA:79431
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Atrophic scars, Follicular hyperkeratosis	ORPHA:300179
Velocardiofacial Syndrome	Cryptorchidism, Hypocalcemia, Aggressive behavior, Emotional lability	OMIM:192430
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Recurrent skin infections, Petechiae, Splenomegaly, Leukocytosis, S...	OMIM:612840
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ...	OMIM:608106
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Ecch...	ORPHA:88
Mixed Connective Tissue Disease	Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Autoimmunity, Alopecia, Myocardit...	ORPHA:809
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Dysphagia, Anonychia	OMIM:616029
Hereditary Acrokeratotic Poikiloderma	Eczema, Pustule, Erythema, Hypopigmented skin patches, Palmoplantar hyperkeratosis, Keratoconjunc...	ORPHA:2907
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Hypopigmentation of hair, Polyphagia, Inappropriate laughter, Hypopigmentation of ...	ORPHA:411515
Cutis Laxa, Autosomal Recessive, Type Iiib	Cryptorchidism, Cutis laxa, Fine hair, Excessive wrinkled skin, Thin skin, Sparse hair, Intrauter...	OMIM:614438
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in pr...	OMIM:615952
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Hyperactivity, Sparse scalp hair, Eczema, Hyperkeratosis, Loose anagen hair, Long eye...	OMIM:607721
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Chromosome 19Q13.11 Deletion Syndrome, Distal	Short stature, Sparse eyelashes, Postnatal growth retardation, Cryptorchidism, Sparse eyebrow, Gr...	OMIM:613026
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Thickened ski...	ORPHA:436252
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Erythema, Septic arthritis	ORPHA:36237
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Membranoproliferative glomerulonephritis, Sparse eyelashes, Sparse scal...	OMIM:137940
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia	OMIM:259700
Celiac Disease, Susceptibility To, 1	Hypocalcemia, Depression	OMIM:212750
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke...	ORPHA:158668
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Numerous nevi, Slow-growing hair, Absent eyelashes, Splenomegaly, Ton...	OMIM:115150
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia, Dysphagia	OMIM:617913
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
2Q32Q33 Microdeletion Syndrome	Short stature, Fine hair, Growth delay, Sparse hair, Decreased testicular size	ORPHA:251019
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair	OMIM:614940
Fg Syndrome 3	Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair	OMIM:300406
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration	OMIM:613115
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Epidermolytic Hyperkeratosis 1	Scaling skin, Erythroderma, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythro...	OMIM:113800
Naxos Disease	Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker...	OMIM:601214
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail...	OMIM:258360
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Eczema, Sparse eyelashes, Concave nail, Absent eyela...	OMIM:305100
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps...	ORPHA:183675
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:181
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic anemia, Pustule...	ORPHA:77297
Holocarboxylase Synthetase Deficiency	Alopecia, Eczema, Anorexia, Keratoconjunctivitis, Thrombocytopenia, Perioral eczema	ORPHA:79242
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Neutropenia, Dry skin, Ichthyosis...	OMIM:617827
Cryoglobulinemic Vasculitis	Viral hepatitis, Circulating immune complexes, Splenomegaly, Skin ulcer, Arthritis, Keratoconjunc...	ORPHA:91138
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia	ORPHA:367
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Free Sialic Acid Storage Disease	Splenomegaly, Skin ulcer	ORPHA:834
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ...	OMIM:250250
Mucopolysaccharidosis-Plus Syndrome	Thickened skin, Thrombocytopenia, Recurrent pneumonia, Splenomegaly, Synophrys, Low anterior hair...	OMIM:617303
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Rheumatoid factor positi...	ORPHA:91139
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia	ORPHA:100024
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse hair, Short stature, Sparse eyebrow	OMIM:619989
Ethylene Glycol Poisoning	Addictive alcohol use, Hyperkalemia, Hypocalcemia, Euphoria	ORPHA:31826
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of the skin, Hypopigmentation of hair, Polyphagia, Iris hypopigmentation	ORPHA:177910
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Hyperpigmentation of the skin, Alopecia t...	ORPHA:221008
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Hyperkeratosis with erythema, Coarse hair, Moderate postnatal growth retardation	OMIM:118650
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Seborrheic dermatitis, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Decrease...	OMIM:274000
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nail pits, Dry skin, C...	OMIM:103285
Bullous Pemphigoid	Macule, Psoriasiform dermatitis, Autoimmunity, Eczema, Erythema	ORPHA:703
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Irida Syndrome	Hyperkeratosis, Pallor, Ichthyosis	ORPHA:209981
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Erysipelas	OMIM:615704
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Increased circulating IgM...	OMIM:617099
Cutis Laxa, Autosomal Recessive, Type Iiia	Short stature, Cryptorchidism, Cutis laxa, Thin skin, Sparse hair, Intrauterine growth retardation	OMIM:219150
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Perianal absce...	OMIM:618935
Familial Peripheral Male-Limited Precocious Puberty	Abnormal hair morphology, Acne, Attention deficit hyperactivity disorder	ORPHA:3000
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Arthritis, Panniculitis, Conjunct...	OMIM:617591
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Short stature, Cryptorchidism, Fine hair, Growth delay, Delayed puberty, Sparse hair, Intrauterin...	OMIM:616817
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Curly hair	OMIM:615279
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear-induced b...	ORPHA:100924
Piebaldism	Macule, Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigm...	ORPHA:2884
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Severe short stature, Moderate postnatal growth retardation, Hyperkeratosis, Sparse hai...	ORPHA:1005
Darier-White Disease	Ridged nail, Acrokeratosis, Hypermelanotic macule, Acantholysis, Pruritus, Palmar pits, Plantar p...	OMIM:124200
Toxic Epidermal Necrolysis	Macule, Acantholysis, Thrombocytopenia, Erythema, Neutropenia, Skin ulcer, Conjunctivitis, Dyspha...	ORPHA:537
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Secondary amenorrhea, Abn...	OMIM:228300
Mycosis Fungoides	Psoriasiform dermatitis, Eczema, Pruritus, Erythema, Skin plaque	OMIM:254400
Intellectual Developmental Disorder, Autosomal Dominant 54	Eczema, Thin nail, Aggressive behavior, Bruxism, Neutropenia, Sparse hair, Dry skin	OMIM:617799
Osteopetrosis, Autosomal Recessive 5	Irritability, Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Palmoplantar hyperkeratosis, Premat...	OMIM:613989
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia	OMIM:251880
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair	ORPHA:1897
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Fixed Drug Eruption	Erythema, Crusting erythematous dermatitis, Erythematous plaque, Stomatitis, Skin erosion, Skin d...	ORPHA:293812
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepa...	OMIM:619858
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Intrauterine growth retardation, Short stature, Sparse facial hair, Sparse axillary hair	OMIM:608154
Hypophosphatasia, Infantile	Irritability, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia	OMIM:241500
Alg12-Cdg	Hyponatremia, Hypospadias, Cryptorchidism, Hypoalbuminemia, Hypocholesterolemia, Micropenis	ORPHA:79324
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Insulin-Resistance Syndrome Type B	Alopecia, Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increase...	ORPHA:2298
Intellectual Developmental Disorder, Autosomal Dominant 65	Aggressive behavior, Synophrys, Low posterior hairline, Attention deficit hyperactivity disorder,...	OMIM:619320
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Blue nevus, Absent skin pigmentation, Blue irides, Red...	ORPHA:79433
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Dystrophic toenail, Hypo...	ORPHA:3253
Protoporphyria, Erythropoietic, 1	Pruritus, Hemolytic anemia, Erythema, Eczema	OMIM:177000
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Cytoplasmic antineutrophil antibody positivity, Uveitis, Skin...	OMIM:608710
Hypocalciuric Hypercalcemia, Familial, Type Iii	Depression, Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Psoriasiform lesion, Pruritus...	ORPHA:85436
Hermansky-Pudlak Syndrome 9	Recurrent skin infections, Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmen...	OMIM:614171
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Elbow hypertrichosis, Eczema, Aggressive behavior, Pica, Long eyelashes, Dry skin	OMIM:620191
Desbuquois Syndrome	Sparse hair, Severe short stature, Disproportionate short-limb short stature, Abnormal eyelash mo...	ORPHA:1425
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Autosomal Erythropoietic Protoporphyria	Pruritus, Erythema, Eczema, Microcytic anemia	ORPHA:79278
Obesity And Hypopigmentation	Red hair, Polyphagia	OMIM:620195
Kaposi Sarcoma	Macule, Skin rash, Hypermelanotic macule, Abnormality of the spleen, Skin nodule, Skin plaque, Pa...	ORPHA:33276
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Pruritus, Antinuclear antibody positivity, Ant...	ORPHA:562639
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Cryptorchidism, Hyperactivity, Hypoalbuminemia	OMIM:235510
Eec Syndrome	Aplasia/Hypoplasia of the skin, Slow-growing hair, Keratitis, Sparse eyebrow, Nail pits, Fine hai...	ORPHA:1896
Infantile Myofibromatosis	Abnormal hair morphology, Irregular hyperpigmentation, Subcutaneous nodule, Skin ulcer	ORPHA:2591
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:616819
Agel Amyloidosis	Pruritus, Cutis laxa, Keratoconjunctivitis sicca, Abnormal spleen morphology, Nail dystrophy, Spa...	ORPHA:85448
Donohue Syndrome	Hypermelanotic macule, Hyperkeratosis, Nail dysplasia, Acanthosis nigricans, Hypertrichosis	OMIM:246200
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism	OMIM:103580
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Macrocytic anemia, Antiphospholipid antibody positivity, Autoimmunity, Alopec...	ORPHA:227990
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin	OMIM:618527
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia	ORPHA:746
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Immunodeficiency 96	Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T...	OMIM:619774
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Leukocytosis, Chronic mucocutaneous candidiasis, Skin ulcer, Rectal abscess, Perio...	OMIM:116920
Lymphatic Malformation 4	Hyperkeratosis, Toenail dysplasia	OMIM:615907
Al Amyloidosis	Increased circulating NT-proBNP concentration, Hypoalbuminemia, Dysphagia	ORPHA:85443
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Congenital Disorder Of Glycosylation, Type Ia	Hypergonadotropic hypogonadism, Hypoalbuminemia, Hypocholesterolemia	OMIM:212065
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Eczema, Highly arched eyebrow, Aggressive behavior, Self-injurious behavior, Skin-...	OMIM:600430
Familial Benign Copper Deficiency	Early balding, Acne, Anemia	ORPHA:1551
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Hyperpigmentation of the skin, Alopecia t...	ORPHA:221016
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Absent platelet dense granules, Fair hair, Reduced natural killer...	OMIM:608233
Trichinellosis	Skin rash, Increased circulating IgE level, Conjunctivitis, Dysphagia	ORPHA:863
Igg4-Related Thyroid Disease	Hypocalcemia, Dysphagia	ORPHA:64744
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Proportionate short stature, Synophrys, Low anterior hairline, Fine hair, Severe postnatal growth...	ORPHA:391408
Brucellosis	Liver abscess, Rheumatoid factor positive, Anorexia, Knee osteoarthritis, Increased circulating I...	ORPHA:1304
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypoalbuminemia	OMIM:618329
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega...	OMIM:260920
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Short stature, Postnatal growth retardation, Fine hair, Premature graying of hair, Thin skin, Nai...	OMIM:612199
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Mandibuloacral Dysplasia	Alopecia, Postnatal growth retardation, Thin skin, Sparse hair, Hypoplastic fingernail	ORPHA:2457
Xeroderma Pigmentosum	Macule, Alopecia, Hypermelanotic macule, Keratitis, Thickened skin, Erythema, Hypopigmented skin ...	ORPHA:910
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop...	OMIM:277900
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormality of retinal pigmentation, Abnormal eyelash morphology, Thickened skin, A...	ORPHA:2526
Pneumocystosis	Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul...	ORPHA:723
Noonan Syndrome 2	Curly hair, Sparse eyebrow, Low posterior hairline, Hyperkeratosis, Nevus, Palmoplantar cutis lax...	OMIM:605275
Cranioectodermal Dysplasia	Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology, Rhizomelia	ORPHA:1515
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer	OMIM:613640
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Macrocytic anemia, Antiphospholipid antibody positivity, Autoimmunity, Alopec...	ORPHA:227982
Cutaneous Collagenous Vasculopathy	Macule, Skin rash, Pruritus, Erythema, Petechiae	ORPHA:280779
Late-Onset Junctional Epidermolysis Bullosa	Localized skin lesion, Gastrointestinal inflammation, Atrophic scars, Palmoplantar keratoderma, N...	ORPHA:79406
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Thickened skin, Blue irides, Iris transill...	ORPHA:352731
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Milroy Disease	Toenail dysplasia, Hyperkeratosis, Erysipelas	ORPHA:79452
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Dysphagia	OMIM:254900
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Adams-Oliver Syndrome	Alopecia, Aplasia/Hypoplasia of the skin, Aplastic/hypoplastic toenail, Leukopenia, Absent finger...	ORPHA:974
Pelger-Huet Anomaly	Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr...	OMIM:169400
Epidermodysplasia Verruciformis	Recurrent skin infections, Seborrheic dermatitis, Pustule, Hypopigmented skin patches, Multiple c...	ORPHA:302
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Pachyonychia Congenita 1	Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:167200
2Q23.1 Microdeletion Syndrome	Hyperactivity, Highly arched eyebrow, Abnormal repetitive mannerisms, Synophrys, Generalized hirs...	ORPHA:228402
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Lupus nephritis, Discoid lupus rash, Antinuclear antibody positivity,...	ORPHA:536
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo...	ORPHA:167
Trichohepatoenteric Syndrome 1	Hypospadias, Increased serum iron, Hypoalbuminemia, Hypermethioninemia, Abnormality of iron homeo...	OMIM:222470
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Immunodeficiency 12	Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count,...	OMIM:615468
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis	OMIM:120100
Macs Syndrome	Alopecia, Redundant skin, Sparse eyebrow, Bronchiectasis, Cutis laxa, Recurrent aphthous stomatit...	OMIM:613075
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Poems Syndrome	Thickened skin, Abnormality of skin physiology, Leukonychia, Increased circulating antibody level...	ORPHA:2905
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Trichiasis, Atypical scarring of skin, Hyperkeratosis, Nail dysplasia, Trichodysp...	OMIM:601701
Chromosome 5P13 Duplication Syndrome	Low posterior hairline, Self-injurious behavior, Compulsive behaviors, Sparse hair, Abnormal repe...	OMIM:613174
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Follicular hyperkeratosis	ORPHA:486815
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Hypogonadism, Hypoplastic nipples, Small nail	OMIM:273400
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Inappropriate laughter, Dys...	ORPHA:411511
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Chronic rhinitis, Follicular hyperkeratosis	OMIM:615225
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Oral-pharyngeal dysphagia, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, ...	ORPHA:95455
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Intrauterine growth retardation, Alopecia, Nail dystrophy	OMIM:616353
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Palmoplantar keratode...	OMIM:106260
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Microcytic anemia, Increased circulating inter...	OMIM:256040
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Eczema, Aggressive behavior, Low anterior hairline, ...	OMIM:601358
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Short stature, Redundant skin, Thick hair, Postnatal growth retardation, Cut...	ORPHA:357074
Noonan Syndrome 14	Curly hair, Short stature, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Webbed neck, S...	OMIM:619745
Calciphylaxis	Skin ulcer	ORPHA:280062
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hydrocele testis, Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Blau Syndrome	Pericarditis, Skin rash, Hyperpigmentation of the skin, Keratitis, Retrobulbar optic neuritis, Er...	ORPHA:90340
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Thickened skin, Melanocy...	ORPHA:79434
American Trypanosomiasis	Skin rash, Myocarditis, Splenomegaly, Autoimmune antibody positivity, Localized skin lesion, Pall...	ORPHA:3386
Gaucher Disease, Perinatal Lethal	Petechiae, Thrombocytopenia, Splenomegaly, Dysphagia, Hepatosplenomegaly, Hyperkeratosis, Congeni...	OMIM:608013
Hyperparathyroidism, Neonatal Severe	Calcinosis, Polydipsia, Hypercalcemia, Hypophosphatemia	OMIM:239200
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Small scrotum, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavio...	OMIM:620330
Borjeson-Forssman-Lehmann Syndrome	Short stature, Cryptorchidism, Hypogonadism, Sparse hair, Decreased testicular size, Thick eyebrow	ORPHA:127
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Hyperactivity, Small scrotum, Hypospadias, Septate vagina, Aggressive behavior, Pr...	OMIM:270400
Fanconi Anemia, Complementation Group S	Sparse hair, Long eyelashes, Low anterior hairline, Anemia	OMIM:617883
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia...	ORPHA:14
Rodrigues Blindness	Sparse hair, Short stature, Fine hair	OMIM:268320
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod...	ORPHA:319218
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Aggressive behavior, Synophrys, Lymphopenia, Abnormal repetitive mannerisms	ORPHA:391307
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, High anterior hairline, Short stature, Sparse hair	ORPHA:284180
Scarf Syndrome	Cryptorchidism, Low posterior hairline, Cutis laxa, Hypoplastic nipples, Webbed neck, Sparse hair	ORPHA:3134
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Hyperconvex nail, Eczema	OMIM:619721
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Streak ovary, Hypergonadotropic hypogonadism, Sparse facia...	ORPHA:2232
Viss Syndrome	Chronic gastritis, Sparse scalp hair, Alopecia, Eczema, Increased circulating IgE level, Hypereos...	OMIM:619472
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Cryptorchidism, Hypocalcemia, Hyperbilirubinemia, Micropenis	ORPHA:163979
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Hypopigmentation of hair, Albinism, Decreased T cel...	OMIM:242840
Braddock-Carey Syndrome 1	Sparse hair, Curly hair, Thrombocytopenia	OMIM:619980
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hyperpigmentat...	ORPHA:231226
Trichothiodystrophy	Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Conjunctivitis, Neutropenia, Tige...	ORPHA:33364
Chime Syndrome	Erythema, Skin ulcer, Fine hair, Acute leukemia, Hyperkeratosis, Ichthyosis, Sparse hair	ORPHA:3474
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Pachydermoperiostosis	Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnormal hair patter...	ORPHA:2796
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Gastritis, Increased mean platelet volume, Splenomegaly, ...	ORPHA:84064
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Aggressive behavior, Compulsive behaviors, Attention deficit hyperactivity disorde...	ORPHA:476126
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Autoimmunity, Paraproteinemia, Decreased circulating co...	ORPHA:329918
Craniofacioskeletal Syndrome	Cryptorchidism, Hypospadias, Hypocalcemia	OMIM:300712
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse eyelashes, Sparse eyebrow, Periorbital wrinkles, Sparse hair, Periorbital hyperpigmentation	OMIM:224900
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia	ORPHA:67
Cerebrooculofacioskeletal Syndrome 2	Growth delay, Intrauterine growth retardation, Sparse hair	OMIM:610756
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Alopecia, Absent eyebrow, Recurrent skin infec...	OMIM:308205
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, Skin ulcer, In...	ORPHA:900
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Autoerythrocyte Sensitization Syndrome	Superficial dermal perivascular inflammatory infiltrate, Autoimmune thrombocytopenia, Pruritus, A...	ORPHA:324636
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Xfe Progeroid Syndrome	Hypoalbuminemia	OMIM:610965
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Pneumonia, Absce...	ORPHA:125
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Alopecia, Epidermal nevus, Erythema, Hyperkeratosis, Congenital ichthyosiform eryt...	OMIM:308050
Immunoglobulin A Vasculitis	Episcleritis, Macule, Skin rash, Anorexia, Pustule, Orchitis, Erythema, Skin ulcer, Arthritis, In...	ORPHA:761
Joubert Syndrome 37	Sparse hair, Cryptorchidism, Short stature, Decreased testicular size	OMIM:619185
Mycetoma	Recurrent bacterial skin infections, Osteomyelitis, Subcutaneous nodule, Cobblestone-like hyperke...	ORPHA:2583
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Dysphagia	ORPHA:70472
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Thickened skin, Synophrys, Hypochromic microcytic a...	ORPHA:96123
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Hyperactivity, Osteomyelitis, Keratitis, Nail dystrophy, Nail dysplasia, Acral...	OMIM:256800
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Scleromyxedema	Pruritus, Thickened skin, Skin-colored papule, Paraproteinemia, Papule, Dysphagia, Sclerodactyly	ORPHA:167635
Blue Rubber Bleb Nevus	Subcutaneous nodule, Skin rash, Microcytic anemia	ORPHA:1059
Reactive Arthritis	Pericarditis, Osteomyelitis, Pustule, Enthesitis, Hyperkeratosis, Inflammation of the large intes...	ORPHA:29207
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Congenital ichthyosiform erythroderma, Patchy alopecia, Congeni...	OMIM:302960
Pearson Syndrome	Hypomagnesemia, Dysphagia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia	ORPHA:699
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Arthritis, Inflammation of the...	ORPHA:324964
Premature Aging Syndrome, Penttinen Type	Thickened skin, Skin nodule, Palmoplantar hyperkeratosis, Hyperkeratosis, Thin skin, Dermal atrop...	OMIM:601812
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair, Dysphagia	OMIM:620001
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor...	ORPHA:294023
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Preauricular pit, Curly hair, Short stature, Slow-growing hair, Highly arched eyebrow, Cryptorchi...	OMIM:617506
Tetrasomy 12P	Sparse hair, Short stature, Sparse eyebrow	ORPHA:884
Gitelman Syndrome	Salt craving, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Polydipsia	ORPHA:358
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Inappropriat...	ORPHA:98794
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Squalene Synthase Deficiency	Dry skin, Abnormality of hair pigmentation	OMIM:618156
Rajab Interstitial Lung Disease With Brain Calcifications 1	Small scrotum, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Paternal Uniparental Disomy Of Chromosome 1	Polyphagia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Eczema, Thrombocytopenia, Subcutaneous nodule, Reticulocytopenia, Dry skin, Leukopenia, Panniculi...	ORPHA:508542
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Hyperactivity, Fair hair, Blue irides	OMIM:614613
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Trichorhinophalangeal Syndrome, Type I	Short stature, Thin nail, Slow-growing hair, Concave nail, Leukonychia, Fine hair, Growth delay, ...	OMIM:190350
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation...	ORPHA:556
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d...	OMIM:615726
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Orchitis, Aggressi...	ORPHA:99826
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Antiphospholipid antibody posi...	ORPHA:391487
Brittle Cornea Syndrome 1	Red hair, Palmoplantar cutis laxa, Molluscoid pseudotumors, Atypical scarring of skin	OMIM:229200
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Striae distensae, Acne, Hyperpigmentation of the skin, Anorexia, Leukocytosis,...	ORPHA:99889
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Ruijs-Aalfs Syndrome	Hypogonadism, Premature graying of hair, Short stature, Sparse hair	OMIM:616200
Scarf Syndrome	Cryptorchidism, Low anterior hairline, Cutis laxa, Low posterior hairline, Hypoplastic nipples, W...	OMIM:312830
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
Antisynthetase Syndrome	Myositis, Skin rash, Autoimmunity, Pruritus, Myocarditis, Lack of skin elasticity, Keratoconjunct...	ORPHA:81
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Nevus, S...	OMIM:613451
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Papule, A...	ORPHA:2273
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc...	ORPHA:90363
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Reduced...	OMIM:242860
Lysinuric Protein Intolerance	Splenomegaly, Fine hair, Anemia, Leukopenia, Cutis laxa, Hemophagocytosis, Sparse hair, Pancreati...	OMIM:222700
Cranioectodermal Dysplasia 3	Rhizomelia, Short stature, Short nail, Broad nail, Cutis laxa, Fine hair, Sparse hair, Dry skin	OMIM:614099
22Q11.2 Deletion Syndrome	Hypospadias, Cryptorchidism, Depression, Abnormality of the uterus, Hypocalcemia, Attention defic...	ORPHA:567
Cartilage-Hair Hypoplasia	Hypocalcemia	ORPHA:175
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Macule, Fasciitis, Pericarditis, Myositis, Skin rash, Hypermelanotic macule, Orchitis, Splenomega...	ORPHA:32960
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Intermittent generalized erythe...	OMIM:186580
De Barsy Syndrome	Short stature, Postnatal growth retardation, Cryptorchidism, Cutis laxa, Excessive wrinkled skin,...	ORPHA:2962
Ablepharon Macrostomia Syndrome	Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fine hair, Growth delay,...	ORPHA:920
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea...	OMIM:615607
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Dengue Fever	Skin rash, Pruritus, Thrombocytopenia, Leukopenia, Petechiae	ORPHA:99828
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Splenomegaly, Juvenile rheumatoid arthritis	ORPHA:85414
Sialidosis Type 1	Splenomegaly, Hyperkeratosis	ORPHA:812
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Autoimmunity, Skin ulcer, Dysphagia	ORPHA:220393
Giant Cell Arteritis	Alopecia, Pericarditis, Anorexia, Skin ulcer, Arthritis	ORPHA:397
Pilarowski-Bjornsson Syndrome	Long eyelashes, Abnormal repetitive mannerisms, Broad eyebrow, Dermal translucency	OMIM:617682
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Synophrys, Coarse hair, Bruxism, Abnormal repetitive mannerisms	OMIM:616351
Amoebiasis Due To Free-Living Amoebae	Restlessness, Unusual skin infection, Sinusitis, Pneumonia, Pustule, Subcutaneous nodule, Skin ul...	ORPHA:68
Liver Disease, Severe Congenital	Hyponatremia, Hypospadias, Elevated circulating alpha-fetoprotein concentration, Increased circul...	OMIM:619991
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombo...	ORPHA:1855
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms, Thick eyebrow, Dermal translucency	ORPHA:529965
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst...	ORPHA:90793
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Tongue thrusting, Dysphagia, Hypopigmentation of the skin, Iris hypopig...	ORPHA:98795
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Hirsutism	OMIM:618087
Revesz Syndrome	Aplastic anemia, Nail pits, Fine hair, Bone marrow hypocellularity, Nail dystrophy, Sparse hair, ...	OMIM:268130
Trichorhinophalangeal Syndrome Type 1	Short stature, Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails	ORPHA:77258
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the...	OMIM:158330
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia, Short stature	OMIM:617763
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male ...	ORPHA:168558
Congenital Disorder Of Glycosylation, Type Iia	Thick eyebrow, Aggressive behavior, Hirsutism, Long eyelashes, Sparse hair, Abnormal repetitive m...	OMIM:212066
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Autoimmunity, Aggressive behavior, Self-injurious behavior, Thin skin, Abnormal te...	ORPHA:449291
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Short stature, Sparse eyelashes, Absent eyelashes, C...	OMIM:268400
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Simpson-Golabi-Behmel Syndrome	Supernumerary nipple, Splenomegaly, Increased circulating IgE level, Small nail, Polysplenia, Nai...	ORPHA:373
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia	ORPHA:505248
B4Galt1-Cdg	Splenomegaly, Inflammatory abnormality of the skin, Redundant neck skin	ORPHA:79332
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Acne, Frontal balding, Synophrys, Facial hirsutism, High anterior hairline, Hirsutism	ORPHA:247768
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short stature, Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline,...	OMIM:250410
Acute Adrenal Insufficiency	Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le...	ORPHA:95409
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male ...	ORPHA:289548
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Eczema, Oral-pharyngeal dysphagia, Synophrys, Sparse hair, Attention deficit hyper...	OMIM:300966
Glass Syndrome	Restlessness, Hyperactivity, Aggressive behavior, Long eyelashes, Thin skin, Nail dysplasia, Spar...	OMIM:612313
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer	OMIM:245660
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Autoimmunity, Pruritus, Splenomegaly, Hepatitis, Ulcerative colit...	ORPHA:171
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia, Facial erythema	ORPHA:284227
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Short stature, Sparse lateral eyebrow	OMIM:190351
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Growth delay, Dermal atrophy, Sparse hair	OMIM:608612
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Inflammation of the large intestine, Nail dyst...	OMIM:615895
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Freckled genitalia	ORPHA:79076
Noonan Syndrome 10	Curly hair, Sparse eyebrow, Hyperkeratosis, Palmoplantar cutis laxa, Cafe-au-lait spot, Hyperpigm...	OMIM:616564
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Short stature, Epidermoid cyst, Growth delay, Severe intrauterine growth retardation,...	OMIM:614114
Punctate Palmoplantar Keratoderma Type 1	Hypergranulosis, Verrucous papule, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Nail dy...	ORPHA:79501
Bainbridge-Ropers Syndrome	Thick eyebrow, Highly arched eyebrow, Supernumerary nipple, Synophrys, Self-injurious behavior, L...	OMIM:615485
Short Syndrome	Sparse hair, Excessive wrinkled skin, Alopecia, Severe short stature	ORPHA:3163
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Short stature, Highly arched eyebrow, Postnatal growth retardation, Cryptorchidism, Low posterior...	OMIM:613563
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair, Retinal pigment epithelial mottling	OMIM:614105
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:617988
Say-Barber-Miller Syndrome	Eczema, Highly arched eyebrow, Abnormality of the hairline, Erythema nodosum, Sparse eyebrow, Tra...	ORPHA:3132
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level, Peritonitis, Erythema, Arthritis, Recurrent aphthous stomatitis,...	ORPHA:343
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Short stature, Cutis laxa, Atrophic scars, Sparse hair, Dermal translucency	OMIM:615349
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Anorexia, Postauricular pit, T lymphocytopenia, Colitis, P...	OMIM:619381
Mevalonic Aciduria	Normocytic hypoplastic anemia, Skin rash, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosi...	OMIM:610377
Zinc Deficiency, Transient Neonatal	Alopecia, Eczema	OMIM:608118
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Thrombocytopenia, Bronchiect...	ORPHA:169105
Carney Complex, Type 1	Multiple lentigines, Nevus, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Adult-Onset Nemaline Myopathy	Paraproteinemia, Neuromuscular dysphagia	ORPHA:171442
Hamamy Syndrome	Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Low posterior hairline, Hypochromic anemia, ...	OMIM:611174
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu...	OMIM:129900
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture, Ichthyosis, Dry skin, Overfriendliness	ORPHA:96169
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Splenomegaly, Defective production of NFKB1-dependent cytokines, Aplasia of th...	OMIM:612132
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Skin rash, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abno...	OMIM:617600
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Impulsivity, Cryptorchidism, Bruxism, Dysphagia, Stereotypical body rocking, Hypocalcemia, Low fr...	OMIM:619503
Infantile Systemic Hyalinosis	Thickened skin, Subcutaneous nodule, Skin ulcer, Hyperpigmentation of the skin	ORPHA:2176
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:28378
Short Stature, Microcephaly, And Endocrine Dysfunction	Acanthosis nigricans, Lymphopenia, Sparse hair, Anemia	OMIM:616541
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Leukopenia, Neutropenia, Ic...	ORPHA:811
Atypical Werner Syndrome	Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Aplasia/Hypoplasia of the ...	ORPHA:79474
Osteopetrosis With Renal Tubular Acidosis	Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:2785
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Acral ulceration	OMIM:162400
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio...	ORPHA:999
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Scleroderma, Premature ...	ORPHA:363618
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Arthritis, Patchy alopecia, Iritis	OMIM:109650
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopenia,...	ORPHA:83617
Aredyld Syndrome	Intrauterine growth retardation, Short stature, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Self-injurious behavior, Tics, Sparse hair, Abnormal repetiti...	OMIM:616364
Hajdu-Cheney Syndrome	Abnormal fingernail morphology, Splenomegaly, Thickened skin, Synophrys, Low anterior hairline, S...	ORPHA:955
Gapo Syndrome	Alopecia, Epidermoid cyst, Redundant skin, Sparse eyelashes, Sparse eyebrow, Growth delay, Hypopl...	OMIM:230740
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Gaucher Disease Type 1	Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenomegaly, Leukopenia...	ORPHA:77259
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Fair hair, Numerous nevi, Eczema, Sacral dimple, Hyperkeratosis, Inappropriate laughter...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Fair hair, Numerous nevi, Eczema, Sacral dimple, Hyperkeratosis, Inappropriate laughter...	ORPHA:363958
Plague	Chapped lip, Skin rash, Anorexia, Erythema nodosum, Lymphadenitis, Splenomegaly, Localized skin l...	ORPHA:707
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Testicular neoplasm, Hypophosphatemia, Uterine leiomyoma, Dysphagia, Polydipsia	ORPHA:99880
Addison Disease	Hyponatremia, Primary testicular failure, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, In...	ORPHA:85138
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Hallermann-Streiff Syndrome	Sparse scalp hair, Hyperactivity, Sparse eyelashes, Sparse eyebrow, Recurrent pneumonia, Fine hai...	OMIM:234100
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Biotinidase Deficiency	Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunctivitis	OMIM:253260
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Generalized hyperpigmentation, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse e...	ORPHA:1071
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Pneumonia, Leukocytosis, Acute infectious pneumonia, Leukopenia, Addictive alcohol use	ORPHA:36238
Parathyroid Carcinoma	Hypercalcemia, Testicular neoplasm, Hypophosphatemia, Uterine leiomyoma, Dysphagia, Polydipsia	ORPHA:143
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Short stature, Sparse body hair, Hypogonadotropic hypogonadism	ORPHA:3068
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Decreased testicular size, Hypocalcemic seizures	ORPHA:93325
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Thickened skin, Pyelonephritis, Fine hair, Patchy alopec...	OMIM:181270
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb...	ORPHA:2108
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu...	OMIM:604292
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Short stature, Dysmenorrhea, Hypergonadotropic hypogonadism, Decreased fertility in females, Spar...	ORPHA:90796
Familial Tumoral Calcinosis	Skin rash, Splenomegaly, Erythema, Subcutaneous nodule, Hypopigmented skin patches, Periarticular...	ORPHA:53715
Weaver Syndrome	Deep-set nails, Thin nail, Melanocytic nevus, Fine hair, Cutis laxa, Sparse hair, Polyphagia	OMIM:277590
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Rhe...	ORPHA:49041
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Palmoplantar hyperkeratosis, Fine hair, Acute lymphoblastic leukemia, Hypo...	OMIM:280000
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Vitamin D-Dependent Rickets, Type 2A	Irritability, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Impulsivity, Aggressive behavior, Abnormality of hair texture, Thickened skin, Synophrys, Abnorma...	ORPHA:73223
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Perianal abscess...	OMIM:301074
Trichotillomania	Hair-pulling, Alopecia, Compulsive behaviors	OMIM:613229
Reynolds Syndrome	Pruritus, Erythema nodosum, Splenomegaly, Antinuclear antibody positivity, Anti-centromere antibo...	OMIM:613471
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short stature, Fine hair, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow	OMIM:614091
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Antinuclear antibody positivity, Recurrent pneumonia, Decreased mean platelet volume, ...	OMIM:617718
Fibrous Dysplasia Of Bone	Precocious puberty in females, Hypercalcemia, Testicular neoplasm, Ovarian cyst, Hypophosphatemia	ORPHA:249
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse hair, Recurrent pneumonia, Nevus flammeus of the forehead	OMIM:616449
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp...	ORPHA:3214
Osteogenesis Imperfecta, Type Xx	Highly arched eyebrow, Disproportionate short-limb short stature, Sparse hair, Intrauterine growt...	OMIM:618644
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Cheilitis, Skin ulcer, Fine hair, Anemia, Self-injurious behavior, Arthritis, ...	ORPHA:534
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash, Thrombocytopenia	OMIM:253270
Listeriosis	Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec...	ORPHA:533
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Brittle hair, Short stature, Fine hair, Chordee, Delayed puberty, Sparse hair, Intrauterine growt...	OMIM:618891
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Anorexia	ORPHA:1302
Menkes Disease	Hypopigmentation of hair, Osteomyelitis, Thickened skin, Atypical scarring of skin, Sparse hair, ...	ORPHA:565
Intrahepatic Cholestasis Of Pregnancy	Skin rash, Autoimmunity, Pruritus, Pruritus on foot, Abnormal circulating interleukin concentrati...	ORPHA:69665
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Decreased circulating ...	OMIM:620005
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Aggressive behavior, Fine hair, Sparse hair, Polyphagia, Self-mutilation	ORPHA:251028
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane...	OMIM:614162
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Opitz-Kaveggia Syndrome	Skin tags, Sacral dimple, Facial wrinkling, Fine hair, Frontal upsweep of hair, Attention deficit...	OMIM:305450
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Anemia	ORPHA:54251
Rift Valley Fever	Skin rash, Anorexia, Thrombocytopenia, Hepatitis, Uveitis, Increased circulating IgG level, Incre...	ORPHA:319251
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Palmoplan...	ORPHA:2710
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Sclerodactyly	OMIM:610644
Lymphatic Malformation 12	Hyperkeratosis	OMIM:620014
Crimean-Congo Hemorrhagic Fever	Anorexia, Increased circulating IgG level, Leukopenia, Conjunctivitis, Cholecystitis, Morbillifor...	ORPHA:99827
Restrictive Dermopathy	Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Skin erosion, Aplasia/Hypoplastia of the ec...	ORPHA:1662
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Charge Syndrome	Hypogonadotropic hypogonadism, External genital hypoplasia, Cryptorchidism, Dysphagia, Hypocalcem...	OMIM:214800
Ramon Syndrome	Hyperkeratosis, Juvenile rheumatoid arthritis, Pigmentary retinopathy, Hypertrichosis	OMIM:266270
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Pancolitis, Folliculitis, Enterocolitis	OMIM:612567
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca	OMIM:617321
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Down Syndrome	Sparse hair, Acute megakaryocytic leukemia	ORPHA:870
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Tropical Endomyocardial Fibrosis	Splenomegaly, Increased circulating interleukin 6 concentration, Autoimmune antibody positivity, ...	ORPHA:75565
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia, Addictive alcohol use	ORPHA:1930
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Pilomatrixoma, Nevus	OMIM:620189
Bethlem Myopathy	Hyperkeratosis, Cigarette-paper scars	ORPHA:610
Johanson-Blizzard Syndrome	Hypospadias, Increased VLDL cholesterol concentration, Septate vagina, Conjugated hyperbilirubine...	OMIM:243800
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, High anterior hairline, Dysphagia	OMIM:615510
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Digeorge Syndrome	Hydrocele testis, Ovarian cyst, Hypocalcemia, Attention deficit hyperactivity disorder	OMIM:188400
Kawasaki Disease	Pericarditis, Abnormality of nail color, Skin rash, Myocarditis, Leukocytosis, Hepatitis, Cheilit...	ORPHA:2331
Kaufman Oculocerebrofacial Syndrome	Short stature, Sparse eyebrow, Thin skin, Sparse hair, Preauricular skin tag	OMIM:244450
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of the skin, Hypopigmentation of hair, Preauricular skin tag, Head-banging, Abno...	ORPHA:177907
Complement Factor I Deficiency	Recurrent skin infections, Glomerulonephritis, Decreased circulating complement factor B concentr...	OMIM:610984
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Sparse eyelashes, Short stature, Fine hair	OMIM:257850
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Stuve-Wiedemann Syndrome 1	Blotching pigmentation of the skin, Thin skin, Dysphagia, Sparse hair, Premature skin wrinkling, ...	OMIM:601559
Marshall Syndrome	Sparse hair, Osteoarthritis, Sparse eyelashes, Sparse eyebrow	ORPHA:560
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Rhizomelia, Oligozoospermia, Growth delay, Small nail, Nail dysplasia, Sparse hair, Breast hypopl...	OMIM:614813
Lenz-Majewski Hyperostotic Dwarfism	Short stature, Cryptorchidism, Cutis laxa, Chordee, Thin skin, Sparse hair, Intrauterine growth r...	OMIM:151050
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Precocious puberty, Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration	OMIM:201300
Hawkinsinuria	Sparse hair, Restlessness	OMIM:140350
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Ocular albinism, Thin skin, Anemia, Iris hypopigmentation	ORPHA:2719
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arthritis, Crohn's...	OMIM:249100
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Thrombocyto...	OMIM:615846
Nablus Mask-Like Facial Syndrome	Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorchidism, Sparse eyebrow, Low an...	OMIM:608156
Pheochromocytoma	Hypercalcemia	OMIM:171300
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Degcags Syndrome	Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Le...	OMIM:619488
Cockayne Syndrome B	Dry hair, Severe short stature, Postnatal growth retardation, Cryptorchidism, Abnormal hair morph...	OMIM:133540
Craniolenticulosutural Dysplasia	Brittle hair, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperpigmentation of th...	ORPHA:50814
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Acral ulceration	OMIM:256840
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Lip pit, Coarse hair, Sparse hair, Chronic otitis media, Dry skin, Milia	ORPHA:2750
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Polyphagia	OMIM:609734
Japanese Encephalitis	Neutrophilia, Anorexia, Increased circulating IgM level, Increased circulating antibody level, In...	ORPHA:79139
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Redundant skin, Absent eyelashes, Thin skin, Hypoplastic nipples, Sparse hair, Pr...	OMIM:200110
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Cockayne Syndrome A	Dry hair, Short stature, Cryptorchidism, Irregular menstruation, Atypical scarring of skin, Sever...	OMIM:216400
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Lysinuric Protein Intolerance	Glomerulonephritis, Antinuclear antibody positivity, Thrombocytopenia, Decreased circulating anti...	ORPHA:470
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Tick-Borne Encephalitis	Anorexia, Thrombocytopenia, Leukocytosis, Increased circulating IgG level, Increased circulating ...	ORPHA:297
Transketolase Deficiency	Seborrheic dermatitis, Uveitis, Self-injurious behavior, Conjunctivitis, Attention deficit hypera...	ORPHA:488618
Fucosidosis	Generalized hyperkeratosis, Abnormality of the nail	ORPHA:349
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Facial wrinkling, Pigmentary retinopathy, Recurrent pancreatitis, Sparse hair,...	OMIM:606721
Woodhouse-Sakati Syndrome	Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog...	OMIM:241080
Fabry Disease	Anorexia, Subcutaneous nodule, Hyperkeratosis, Arthritis, Anemia	ORPHA:324
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of the skin, Hypopigmentation of hair, Bulimia, Self-injurious behavior, Abnorma...	ORPHA:98793
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Pre...	ORPHA:90794
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu...	ORPHA:79078
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of the skin, Hypopigmentation of hair, Bulimia, Self-injurious behavior, Abnorma...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of the skin, Hypopigmentation of hair, Bulimia, Self-injurious behavior, Abnorma...	ORPHA:177901
Ullrich Congenital Muscular Dystrophy 1	Follicular hyperkeratosis	OMIM:254090
Neuropathy, Hereditary Sensory And Autonomic, Type V	Acral ulceration	OMIM:608654
Teebi-Shaltout Syndrome	Short stature, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Sparse hair	OMIM:272950
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Sparse eyebrow, Cryptorchidism, Fi...	ORPHA:444072
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
De Sanctis-Cacchione Syndrome	Parakeratosis, Hypermelanotic macule, Keratitis, Conjunctivitis, Dermal atrophy	OMIM:278800
Parkes Weber Syndrome	Erythematous plaque, Capillary malformation, Scaling skin, Skin ulcer	ORPHA:90307
Prader-Willi Syndrome	Hypopigmentation of hair, Erysipelas, Polyphagia, Periodontitis, Attention deficit hyperactivity ...	ORPHA:739
Craniolenticulosutural Dysplasia	Brittle hair, Short stature, Cryptorchidism, Coarse hair, Sparse hair	OMIM:607812
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Skin ulcer, Hepatospleno...	ORPHA:2072
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno...	ORPHA:793
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Impulsivity, Abnormal temper tantrums, Co...	ORPHA:398069
Marshall-Smith Syndrome	Brittle hair, Short stature, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Syn...	OMIM:602535
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of the skin, Hypopigmentation of hair, Bulimia, Self-injurious behavior, Abnorma...	ORPHA:98754
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Polyphagia, Skin-picking, Abnormal temper tantrums, Hypopigmentation of...	ORPHA:398079
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina	OMIM:146255
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Uveitis, Fine hair, Sparse hair, Fragile nails	OMIM:164200
Prader-Willi Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Self-injurious behavior, Frontal upsweep ...	OMIM:176270
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Splenomegaly, Hypopigmented skin patches, ...	ORPHA:163746
Mucolipidosis Ii Alpha/Beta	Brittle hair, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Sparse hair, Recurrent otitis me...	OMIM:252500
Vipoma	Hypokalemia, Hypercalcemia, Anorexia	ORPHA:97282
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Disproportionate short statu...	OMIM:210710
Cranioectodermal Dysplasia 2	Sparse eyelashes, Cholangitis, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Cutis laxa, Pol...	OMIM:613610
Branchiooculofacial Syndrome	Preauricular pit, Supernumerary nipple, Aplasia cutis congenita, Postnatal growth retardation, Cr...	OMIM:113620
Ppoma	Hypercalcemia, Anorexia	ORPHA:97278
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Glucagonoma	Hypercalcemia, Anorexia, Depression	ORPHA:97280
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Recurrent skin infections, Pneumonia, Skin erosion, Paronychia, Gastrointestinal inflam...	ORPHA:79404
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Recurrent skin infections, Glomerulonephritis, Gastrointestinal inflammation, Iron deficiency ane...	ORPHA:79408
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Abnormality of retinal pigmentatio...	ORPHA:91500
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Costello Syndrome	Deep-set nails, Curly hair, Redundant neck skin, Thin nail, Concave nail, Fragile nails, Sparse h...	OMIM:218040
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sacral dimple, Redundant neck skin, Eczema, Sparse hair, Preauricular skin tag, Frontal hirsutism	OMIM:617157
Leprechaunism	Facial hypertrichosis, Thickened skin, Hyperkeratosis, Acanthosis nigricans, Hypertrichosis	ORPHA:508
Multiple Endocrine Neoplasia Type 4	Cervix cancer, Hypercalcemia, Testicular neoplasm	ORPHA:276152
Goldberg-Shprintzen Syndrome	Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow	OMIM:609460
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Recurrent pneumonia, Excessive wrinkled skin, Thin skin, Follicular hyperkeratosis, Molluscoid ps...	OMIM:225400
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Autoimmune antibody positivity	ORPHA:90003
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Splenomegaly, Vacuolated lymphocytes, Ichthyosis, Pancreatitis	ORPHA:565612
Somatostatinoma	Hypercalcemia, Anorexia	ORPHA:97283
Orofaciodigital Syndrome I	Alopecia, Dry hair, Short stature, Sparse hair, Milia	OMIM:311200
Cowden Syndrome	Macule, Subcutaneous nodule, Hypopigmented skin patches, Melanocytic nevus, Palmoplantar keratode...	ORPHA:201
Gaucher Disease	Pancytopenia, Osteomyelitis, Thrombocytopenia, Osteoarthritis, Splenomegaly, Hepatitis, Dysphagia...	ORPHA:355
Monosomy 22Q13.3	Hyperactivity, Sacral dimple, Recurrent skin infections, Hypoplastic toenails, Hair-pulling, Long...	ORPHA:48652
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis, Subcutaneous nodule, Papule	ORPHA:79280
Multiple Endocrine Neoplasia Type 2	Cervical neoplasm, Hypercalcemia	ORPHA:653
Grfoma	Hypercalcemia, Anorexia	ORPHA:97261
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hemoglobin A1c, Sparse eyebrow, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair	OMIM:619127
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Kanzaki Disease	Hyperkeratosis, Dry skin, Petechiae	OMIM:609242
Lassa Fever	Increased circulating IgM level, Conjunctivitis, Dysphagia	ORPHA:99824
Phosphoribosylpyrophosphate Synthetase Superactivity	Sparse hair, Cryptorchidism, Short stature	OMIM:300661
Chilton-Okur-Chung Neurodevelopmental Syndrome	Sparse scalp hair, Highly arched eyebrow, Aggressive behavior, Sparse eyebrow, Synophrys, Low ant...	OMIM:619841
Restrictive Dermopathy 1	Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Absent eyelashes, Sparse eyebrow, Scaling...	OMIM:275210
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Preauricular pit, Absent nipple, Short stature, Sparse eyebrow, Hydrocele testis, Hypoplastic nip...	OMIM:620186
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Mild postnatal growth retardation, Bilateral cryptorchidism, Redundant skin in...	OMIM:150230
Wrinkly Skin Syndrome	Short stature, Postnatal growth retardation, Cryptorchidism, Excessive skin wrinkling on dorsum o...	ORPHA:2834
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Nevus, Seborrheic dermatitis	ORPHA:276280
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Epidermolysis Bullosa, Junctional 4, Intermediate	Macular hyperpigmented dermopathy, Scarring alopecia of scalp, Dystrophic fingernails, Nail dystr...	OMIM:619787
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Generalized hyperpigmentation, Central h...	ORPHA:744
Encephalitis Lethargica	Increased circulating antibody level, Autoimmunity	ORPHA:83600
Oeis Complex	Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb...	OMIM:258040
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Dermal translucency, Recurrent skin infections, Synophrys, Synovitis, Pigmenta...	ORPHA:3455
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Sparse hair, Preauricular skin tag, Abnormal repetitive mannerisms, Nail dysplasia	OMIM:616682
Yellow Fever	Increased circulating interleukin 6 concentration, Neutrophilia, Skin rash, Acute pancreatitis, L...	ORPHA:99829
Williams Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypercalcemia, Elevated circulating creatine ...	ORPHA:904
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Atrophic scars, Follicular hyperkeratosis, Cutis laxa	OMIM:614557
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis	ORPHA:2483
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Pancytopenia, Anorexia, Iridocyclitis, Splenomegaly, Bronchiect...	OMIM:181000
Wrinkly Skin Syndrome	Short stature, Redundant skin, Short nail, Cryptorchidism, Neonatal wrinkled skin of hands and fe...	OMIM:278250
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Short stature, Focal dermal aplasia/hypoplasia, Supernumerary nipple, ...	OMIM:305600
Myhre Syndrome	Short stature, Cryptorchidism, Fine hair, Birth length less than 3rd percentile, Sparse hair, Int...	OMIM:139210
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair, Attention deficit hyperactivity disorder	OMIM:619934
Roberts Syndrome	Postnatal growth retardation, Cryptorchidism, Sparse hair, Severe intrauterine growth retardation	ORPHA:3103
Kyphoscoliotic Ehlers-Danlos Syndrome	Atypical scarring of skin, Synophrys, Thin skin, Follicular hyperkeratosis	ORPHA:536545
Warburg-Cinotti Syndrome	Erythema, Thin skin, Follicular hyperkeratosis, Sterile abscess	OMIM:618175
6Q Terminal Deletion Syndrome	Hyperkeratosis, Low anterior hairline, Highly arched eyebrow	ORPHA:75857
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi...	ORPHA:2388
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Anorexia, Depression	ORPHA:652
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Scalp-Ear-Nipple Syndrome	Sparse hair, Breast aplasia, Abnormal fingernail morphology, Pyelonephritis	ORPHA:2036
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Pica, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Synophrys, Dysphagia, Abnormal repetitive mannerisms	ORPHA:447997
Meckel Syndrome 14	Ambiguous genitalia, Aplasia of the uterus	OMIM:619879
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Aplasia of the vagina, Aplasia of the uterus	ORPHA:457284
Intellectual Developmental Disorder, Autosomal Dominant 38	Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms	OMIM:616393
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Pmm2-Cdg	Hypogonadotropic hypogonadism, Reduced thyroxin-binding globulin, Hyperplastic labia majora, Hypo...	ORPHA:79318
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia	ORPHA:77261
Cystinosis, Nephropathic	Hypopigmentation of hair, Oral-pharyngeal dysphagia, Splenomegaly, Retinal pigment epithelial mot...	OMIM:219800
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Severe short stature, Cryptorchidism, Loss of eyelashes, Thin eyebrow, Sparse hair, Int...	ORPHA:2636
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus	ORPHA:3320
Fanconi Anemia, Complementation Group L	Micropenis, Aplasia of the uterus, Attention deficit hyperactivity disorder	OMIM:614083
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Renpenning Syndrome 1	Brittle hair, Short stature, Sparse hair, Decreased testicular size, Sparse lateral eyebrow	OMIM:309500
Split Cord Malformation	Tufted hairs, Penetrating foot ulcers, Skin dimple, Hyperpigmentation of the skin, Hypertrichosis	ORPHA:573278
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry...	ORPHA:353281
Williams-Beuren Syndrome	Micropenis, Obsessive-compulsive trait, Hypercalcemia, Attention deficit hyperactivity disorder	OMIM:194050
Smith-Lemli-Opitz Syndrome	Abnormal eyelash morphology, Self-injurious behavior, Hypopigmentation of hair, Attention deficit...	ORPHA:818
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level, Dysphagia	OMIM:606002
Neurocardiofaciodigital Syndrome	Sparse hair, Short stature, Sparse eyebrow	OMIM:619869
Sotos Syndrome	Hypospadias, Hypercalcemia, Phimosis, Aggressive behavior, Cryptorchidism, Hydrocele testis, Atte...	ORPHA:821
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Primrose Syndrome	Restlessness, Sparse scalp hair, Absent facial hair, Aggressive behavior, Synophrys, Self-injurio...	OMIM:259050
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures	OMIM:612301
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus	ORPHA:1521
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Osteomyelitis leading to amputation due to slow healing fractures, Acral ulceration	OMIM:256810
Cysticercosis	Iridocyclitis, Increased circulating antibody level, Infectious encephalitis	ORPHA:1560
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc...	ORPHA:353277
Roberts-Sc Phocomelia Syndrome	Postnatal growth retardation, Cryptorchidism, Stillbirth, Severe intrauterine growth retardation,...	OMIM:268300
Pallister-Killian Syndrome	Sparse scalp hair, Sacral dimple, Alopecia, Rhizomelia, Sparse eyelashes, Supernumerary nipple, M...	OMIM:601803
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab...	ORPHA:322
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Coffin-Siris Syndrome 1	Hypospadias, Aggressive behavior, Cryptorchidism, Compulsive behaviors, Aplasia of the uterus, Cl...	OMIM:135900
Cardiac-Urogenital Syndrome	Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita...	OMIM:618280
Menke-Hennekam Syndrome 1	Sparse hair, Long eyelashes, Thick eyebrow	OMIM:618332
Norrie Disease	Cryptorchidism, Self-injurious behavior, Irritability, Attention deficit hyperactivity disorder, ...	ORPHA:649
Wolf-Hirschhorn Syndrome	Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus, Abnormal repetitive manne...	OMIM:194190
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse	OMIM:130050
Hydrolethalus Syndrome 1	Abnormal vagina morphology, Hypospadias, Bifid uterus	OMIM:236680
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus	OMIM:276820
Neu-Laxova Syndrome 1	Cryptorchidism, Bifid uterus	OMIM:256520
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis...	OMIM:107480
Okamoto Syndrome	Bifid uterus	ORPHA:2729
Vascular Ehlers-Danlos Syndrome	Hypospadias, Cryptorchidism, Cystocele, Hypokalemia, Uterine rupture, Uterine prolapse	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

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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
Col17a1^em1(IMPC)Mbp	Intra-exon deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Col17a1 MGI:88450

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Col17a1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data