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Gene: Scd2 MGI:98240

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

stearoyl-Coenzyme A desaturase 2

Synonyms:

Scd-2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Scd2 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 Scd2 (0 diseases)
Human diseases predicted to be associated with Scd2 (736 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Scd2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Abnormality of the nai...	OMIM:605389
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Hypotrichosis 11	Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Absent axillary hair, Sparse hair,...	OMIM:615059
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Sparse hair, Blepharitis, Sparse ...	OMIM:618535
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Flotch Syndrome	Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Inflammat...	ORPHA:2045
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Spar...	ORPHA:2722
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp...	OMIM:602400
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Keratitis, Scarring alopecia of scalp, Folliculitis, ...	OMIM:612843
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Olmsted Syndrome, X-Linked	Posterior blepharitis, Subungual hyperkeratosis, Blepharitis, Alopecia totalis	OMIM:300918
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Ifap Syndrome 2	Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail dystrophy, ...	OMIM:619016
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Folliculitis, Dystrophic...	OMIM:308800
Porokeratosis Plantaris Palmaris Et Disseminata	Pruritus, Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis	ORPHA:737
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Hypertrichosis Lanuginosa Congenita	Double eyebrow, Congenital, generalized hypertrichosis	OMIM:145700
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal testis morphology, Pi...	ORPHA:202
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers...	ORPHA:1008
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Atopic Keratoconjunctivitis	Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, B...	ORPHA:163934
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Perifolliculitis, Alopecia of scalp	OMIM:260910
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Lichen Planus Pemphigoides	Conjunctivitis, Abnormality of the nail, Blepharitis	ORPHA:254478
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia...	OMIM:106260
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Widow's peak, Atopic dermatitis, Sparse hair, Thick eyebrow, Ptosis	OMIM:606242
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Premature ovarian insufficiency, Thin nail, Absent eyelashes, Sparse hair, Nail d...	OMIM:618625
Aquagenic Palmoplantar Keratoderma	Edema, Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmar pruritus	ORPHA:498359
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/...	ORPHA:1818
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Aredyld	Generalized hypotrichosis	OMIM:207780
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Hidrotic Ectodermal Dysplasia, Halal Type	Absent eyebrow, Sparse scalp hair, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Trichothiodystrophy 9, Nonphotosensitive	Epicanthus, Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding	OMIM:619692
Leukonychia Totalis	Abnormal fingernail morphology, Abnormal eyelash morphology, Adenoma sebaceum, Abnormal toenail m...	ORPHA:2387
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis	OMIM:101900
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis	ORPHA:79503
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Oliver-Mcfarlane Syndrome	Alopecia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, L...	OMIM:275400
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a...	OMIM:146110
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
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Paronychia, Erythroderma, Blepharitis, Onychogryposis	OMIM:614328
Focal Facial Dermal Dysplasia 3, Setleis Type	Epicanthus, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis	OMIM:227260
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu...	OMIM:613102
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Abnormal eyelid morphology, Pustule, Paronych...	ORPHA:37
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Moynahan Syndrome	Sparse hair, Alopecia, Hypogonadism	ORPHA:2574
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Ulerythema Ophryogenesis	Miscarriage, Acne, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermatitis	ORPHA:3406
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Multiple eyelid margin cysts, Onycholysis, Nail dyst...	OMIM:224750
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule	ORPHA:464318
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform eryt...	OMIM:617571
Lactase Deficiency, Congenital	Decreased small intestinal mucosa lactase level, Dehydration	OMIM:223000
Syndromic X-Linked Intellectual Disability 7	Cryptorchidism, Hypogonadism, Sparse body hair	ORPHA:85274
Poikiloderma With Neutropenia	Skin rash, Sparse eyebrow, Recurrent pneumonia, Nasolacrimal duct obstruction, Low posterior hair...	OMIM:604173
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Allergic rhinitis, Absent facial hair, Abnormalit...	ORPHA:90368
Cortisone Reductase Deficiency 1	Alopecia, Acne, Infertility, Oligomenorrhea, Hirsutism	OMIM:604931
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow	ORPHA:79133
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Long eyelashes, ...	ORPHA:3363
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Cryptorchidism, Fine hair	ORPHA:1174
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	ORPHA:454
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Death in infancy, Dehydration	OMIM:251850
Limb-Mammary Syndrome	Absent lacrimal punctum, Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Ab...	ORPHA:69085
Harlequin Ichthyosis	Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis	ORPHA:457
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Decreased liver function, Dehydration	OMIM:602199
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ...	ORPHA:477
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Absent lacrimal punctum, Hypoplastic lacrimal duct, Cryptorchidism, Upslanted palpebral fissure, ...	OMIM:273390
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti...	ORPHA:79147
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis	ORPHA:79399
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:1006
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis	ORPHA:89838
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Dermoodontodysplasia	Sparse scalp hair, Abnormal eyelid morphology, Fingernail dysplasia, Trichodysplasia, Toenail dys...	ORPHA:1660
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Lamellar Ichthyosis	Pruritus, Erythroderma, Dehydration, Hyperkeratosis, Ichthyosis	ORPHA:313
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno...	ORPHA:129
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Lymphedema, Splenomegaly, Hyperlipidemia, Jaundice, ...	OMIM:214900
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Edema, Pruritus, Splenomegaly, Hyperkeratosis	ORPHA:2584
Cardiofaciocutaneous Syndrome 2	Absent eyebrow, Curly hair, Fine hair, Sparse hair, Ptosis	OMIM:615278
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin	ORPHA:2812
Anonychia With Flexural Pigmentation	Hyperkeratosis, Follicular hyperkeratosis	ORPHA:69125
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey...	ORPHA:294023
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Nail dystrophy, Trichodysplasia...	ORPHA:2890
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Psoriasiform dermatitis, Blepharitis	OMIM:616834
Hypotrichosis 3	Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor...	OMIM:613981
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester...	OMIM:232700
Chronic Hiccup	Dehydration	ORPHA:396
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Dehydration	OMIM:618958
Diarrhea 4, Malabsorptive, Congenital	Dehydration	OMIM:610370
Diabetes Mellitus, Transient Neonatal, 1	Dehydration	OMIM:601410
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Hepatic melanin-like lysos...	OMIM:208085
Combined Malonic And Methylmalonic Acidemia	Elevated hepatic transaminase, Dehydration	ORPHA:289504
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing...	OMIM:604536
Heyn-Sproul-Jackson Syndrome	Sparse hair, Epicanthus	OMIM:618724
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Polyhydramnios, Dehydration	OMIM:616069
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Xq27.3Q28 Duplication Syndrome	Decreased testicular size, Cryptorchidism, Hypogonadism, Sparse body hair	ORPHA:261483
Enteric Anendocrinosis	Portal hypertension, Cholestatic liver disease, Dehydration	ORPHA:83620
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Hyperkeratosis, Pruritis on ...	ORPHA:90280
Combined Malonic And Methylmalonic Aciduria	Dehydration	OMIM:614265
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617526
Blepharocheilodontic Syndrome 1	Lagophthalmos, Ectropion of lower eyelids, Euryblepharon, Small nail, Nail dysplasia, Sparse hair...	OMIM:119580
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail	ORPHA:2251
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Dehydration	ORPHA:28
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Decreased ...	OMIM:234050
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
17Q23.1Q23.2 Microdeletion Syndrome	Epicanthus, Highly arched eyebrow, Long eyelashes, Chronic otitis media, Blepharitis	ORPHA:261279
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm	ORPHA:50944
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Sea-Blue Histiocytosis	Blepharitis	ORPHA:158029
Bazex Syndrome	Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Acanthosis nigricans	ORPHA:166113
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair	ORPHA:2985
Gand Syndrome	Blepharophimosis, Narrow palpebral fissure, Sparse hair	OMIM:615074
Focal Facial Dermal Dysplasia Type Iii	Epicanthus, Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Sparse hair, Di...	ORPHA:1807
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:212140
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper...	OMIM:620014
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Lacrimal duct stenosis, Sparse axillary hair, Absence of Ste...	OMIM:604292
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Epicanthus, Sparse eyebrow, Sparse hair, Downslanted palpebral fissures, Ptosis	OMIM:619989
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Telecanthus, Sparse eyelashes, Absence of Stensen duct, Sparse axillary hair, ...	OMIM:129900
Dyskeratosis Congenita	Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, ...	ORPHA:1775
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratod...	ORPHA:312
Atrophoderma Vermiculata	Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Eec Syndrome	Entropion, Slow-growing hair, Decreased response to growth hormone stimulation test, Sparse eyebr...	ORPHA:1896
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Dehy...	OMIM:610600
Netherton Syndrome	Skin rash, Eczema, Dehydration, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ery...	ORPHA:634
Nicolaides-Baraitser Syndrome	Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, ...	ORPHA:3051
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Sparse body hair, Aplasia/Hypoplasia...	ORPHA:2850
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Sparse facial hair, Absent facial hair, Low posterior hairline, A...	ORPHA:2183
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype...	ORPHA:2199
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Abnormal fingernail morphology, Eczema, Sparse body hair	ORPHA:1810
Ichthyosis, Hystrix-Like, With Deafness	Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, Cobblestone-...	OMIM:602540
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:181
Reticular Dysgenesis	Skin rash, Dehydration	ORPHA:33355
Familial Cold Urticaria	Pruritus, Dehydration	ORPHA:47045
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on bre...	ORPHA:64745
Björnstad Syndrome	Alopecia, Brittle hair, Hypogonadism	ORPHA:123
Generalized Pseudohypoaldosteronism Type 1	Pustule, Glucocortocoid-insensitive primary hyperaldosteronism, Atopic dermatitis, Dehydration, C...	ORPHA:171876
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Entropion, Keratitis, Cryptorchidism, Ankyloblepharon, Hyp...	ORPHA:910
Bazex-Dupre-Christol Syndrome	Eczema, Trichorrhexis nodosa, Atopic dermatitis, Coarse hair, Sparse hair, Trichoepithelioma, Pil...	OMIM:301845
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma	OMIM:133200
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker...	ORPHA:2897
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Nasolacrimal duct obstruction, Hypogonadism, Hypoplastic nipples, Small nail, Sparse hair	OMIM:273400
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Low anterior hairline, Hirsutism, Upper eyelid edema, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:616819
Lessel-Kubisch Syndrome	Sparse pubic hair, Premature graying of hair, Hypogonadism	OMIM:618681
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosi...	ORPHA:79395
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Eczema, Edema, Pruritus, Cholelithiasis, Hepatic failure	OMIM:177000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm...	ORPHA:2273
Moebius Syndrome	Epicanthus, Hypogonadotropic hypogonadism, Breast aplasia, Blepharitis, Ptosis	ORPHA:570
Autosomal Agammaglobulinemia	Recurrent skin infections, Skin rash, Hepatitis, Dehydration	ORPHA:33110
Androgen Insensitivity Syndrome	Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ...	OMIM:300068
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa...	OMIM:619208
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair	ORPHA:79402
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Nail dystrophy, Nail dysplasia, Erythroderma, Sparse hair, Ectropion	OMIM:242300
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Parakeratosis, Super...	ORPHA:284426
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Ichthyosis Prematurity Syndrome	Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma	OMIM:608649
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia, Pruritus, Mi...	ORPHA:275761
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hepatomegaly, Pancreatitis, Dehydration	ORPHA:79312
Lymphatic Malformation 4	Hyperkeratosis, Pedal edema, Lymphedema	OMIM:615907
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis	OMIM:602723
Palmoplantar Keratoderma And Congenital Alopecia 2	Hyperkeratosis, Sclerodactyly, Palmoplantar hyperkeratosis	OMIM:212360
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperaldosteronism, Dehydration	OMIM:620126
Propionic Acidemia	Hepatomegaly, Eczema, Dehydration, Propionyl-CoA carboxylase deficiency, Pancreatitis	OMIM:606054
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperaldosteronism, Dehydration	OMIM:620125
Oligodontia-Colorectal Cancer Syndrome	Absent eyebrow, Sparse scalp hair, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema, Absent eyelashes, Hydrocele testis,...	ORPHA:69735
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu...	OMIM:612281
Juvenile Xanthogranuloma	Iritis, Blepharitis, Uveitis	ORPHA:158000
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Death in adolescence, Dehydration, Death in childhood	OMIM:560000
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperaldosteronism, Dehydration	OMIM:264350
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Parakeratosis, Portal hypertension, Pruritus, Splenomegaly, Jaundice, Cholestasis, ...	OMIM:607626
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair	ORPHA:59303
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Parakeratosis, Skin rash, Maculopapular exanthema, S...	ORPHA:398124
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Rhinitis, H...	OMIM:614941
Eem Syndrome	Absent eyebrow, Sparse scalp hair, Sparse body hair	ORPHA:1897
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis	ORPHA:89843
Transient Neonatal Diabetes Mellitus	Dehydration	ORPHA:99886
Early-Onset Familial Hypoaldosteronism	Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Dehydration	ORPHA:556030
Congenital Short Bowel Syndrome	Dehydration, Steatorrhea	OMIM:615237
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ...	OMIM:258360
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Cholestasis, Intrahepatic, Of Pregnancy, 1	Elevated hepatic transaminase, Pruritus, Intrahepatic cholestasis, Jaundice, Abnormal liver funct...	OMIM:147480
Lichen Planopilaris	Pruritus, Hyperkeratosis, Hepatitis	ORPHA:525
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Sparse eyelashes, Cryptorchidism, Pterygium of nails, Prematur...	OMIM:305000
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Pruritus, Intrahepatic cholestasis, Jaundice, Spleno...	OMIM:602347
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:615821
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Dehydration, Periportal fibros...	OMIM:263200
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans	ORPHA:409
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ...	OMIM:615023
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Hepatoerythropoietic Porphyria	Recurrent bacterial skin infections, Scarring alopecia of scalp, Loss of eyelashes, Keratoconjunc...	ORPHA:95159
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Biliary tract abno...	ORPHA:79301
Progeroid Syndrome, Petty Type	Epicanthus, Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in ir...	ORPHA:2963
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Dehydration	ORPHA:27
Cerebrooculofacioskeletal Syndrome 1	Dehydration, Death in childhood	OMIM:214150
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Dehydration, Abnorm...	ORPHA:1667
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Epicanthus, Synophrys, Upslanted palpebral fissure, Hydrocele testis, Blepharitis, Fair hair, Rec...	ORPHA:280633
Meige Disease	Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio...	ORPHA:90186
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperaldosteronism, Dehydration	OMIM:177735
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin	OMIM:247100
White Sponge Nevus 2	Hyperparakeratosis, Edema	OMIM:615785
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Noonan Syndrome 6	Curly hair, Epicanthus, Long eyebrows, Bilateral ptosis, Cryptorchidism, Low posterior hairline, ...	OMIM:613224
Netherton Syndrome	Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Angioedema, Congenit...	OMIM:256500
Fg Syndrome 3	Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair	OMIM:300406
Osteootohepatoenteric Syndrome	Pruritus, Microvesicular hepatic steatosis, Cholestasis, Dehydration, Portal fibrosis, Hepatic fi...	OMIM:619377
Trichothiodystrophy 8, Nonphotosensitive	Eczema, Sparse eyebrow, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:619691
Erythrokeratodermia Variabilis	Hyperkeratosis, Skin rash, Patchy palmoplantar hyperkeratosis	ORPHA:317
Trichohepatoenteric Syndrome 2	Brittle hair, Chronic hepatitis, Colitis, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexi...	OMIM:614602
Wiskott-Aldrich Syndrome	Sinusitis, Eczema, Abnormality of the menstrual cycle, Keratitis, Arthritis, Inflammation of the ...	ORPHA:906
Peeling Skin Syndrome 6	Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis	OMIM:618084
Mednik Syndrome	Hyperkeratosis, Intrahepatic cholestasis, Ichthyosis	ORPHA:171851
Lelis Syndrome	Yellow nails, Absent lower eyelashes, Upslanted palpebral fissure, Nail dystrophy, Sparse hair, A...	ORPHA:140936
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse p...	OMIM:110100
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i...	OMIM:262000
Intellectual Developmental Disorder, Autosomal Recessive 5	Telecanthus, Eczema, Synophrys, Sparse hair, Blepharophimosis, Thick eyebrow	OMIM:611091
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Dehydration, Elevated hepatic transaminase	OMIM:615453
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Curly hair, Decreased response to grow...	OMIM:615280
Central Diabetes Insipidus	Dehydration	ORPHA:178029
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ...	OMIM:300953
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Hyperkeratosis, Eczema, Ichthyosis	OMIM:612379
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Splenomegaly, Cholestasis, Hyperke...	OMIM:614576
Congenital Disorder Of Glycosylation, Type Im	Death in infancy, Inflammatory abnormality of the skin, Increased circulating free fatty acid lev...	OMIM:610768
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Fanconi Anemia, Complementation Group S	Epicanthus, Low anterior hairline, Ovarian neoplasm, Upslanted palpebral fissure, Long eyelashes,...	OMIM:617883
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Irida Syndrome	Hyperkeratosis, Intrahepatic cholestasis, Ichthyosis	ORPHA:209981
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis	OMIM:613943
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Dehydration	ORPHA:103910
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Hyperkeratosis, Lymphedema	ORPHA:79279
Filippi Syndrome	Sparse hair, Cryptorchidism, Frontal hirsutism, Hypertrichosis	OMIM:272440
Noonan Syndrome 8	Eczema, Polyhydramnios, Hyperkeratosis, Webbed neck, Pleural effusion	OMIM:615355
Secondary Short Bowel Syndrome	Cholestasis, Dehydration, Steatorrhea	ORPHA:95427
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair	OMIM:613576
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Secondary amenorrhea, Abn...	OMIM:228300
Milroy Disease	Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas	ORPHA:79452
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Superficial Epidermolytic Ichthyosis	Edema, Acantholysis, Palmoplantar keratoderma, Thin skin, Ichthyosis	ORPHA:455
Tetrasomy 12P	Telecanthus, Sparse eyebrow, Upslanted palpebral fissure, Sparse hair, Ptosis	ORPHA:884
Chromomycosis	Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato...	ORPHA:182
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr...	OMIM:604777
Bathing Suit Ichthyosis	Alopecia, Nail dystrophy, Erythroderma, Sparse hair, Ectropion	ORPHA:100976
Keratoderma Hereditarium Mutilans	Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis	ORPHA:494
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod...	OMIM:148700
Hypercalcemia, Infantile, 1	Dehydration	OMIM:143880
Chromosome Xq27.3-Q28 Duplication Syndrome	Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Sparse body hair, Decreas...	OMIM:300869
Congenital Tufting Enteropathy	Cholestatic liver disease, Dehydration, Steatorrhea	ORPHA:92050
Isovaleric Acidemia	Dehydration	OMIM:243500
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Abnormal eyelid morphology, Low anterior hairline, Thin eyebrow, Sparse hair, P...	ORPHA:1787
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Hypogonadism, Sparse hair, Downslanted palpebral fiss...	ORPHA:2316
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hydrops fetalis, Dehydration, M...	OMIM:557000
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Coarse hair, Brittle hair	ORPHA:1883
Rapp-Hodgkin Syndrome	Absent lacrimal punctum, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebro...	OMIM:129400
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Dehydration	OMIM:300200
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N...	ORPHA:251393
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Dehydration	OMIM:602722
Proteus Syndrome	Splenomegaly, Hyperkeratosis	OMIM:176920
Flynn-Aird Syndrome	Hyperkeratosis	OMIM:136300
2Q32Q33 Microdeletion Syndrome	Sparse hair, Downslanted palpebral fissures, Decreased testicular size, Fine hair	ORPHA:251019
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Dystrophic fingernails, Dystrophic toenail, Hypogonad...	ORPHA:3253
Borjeson-Forssman-Lehmann Syndrome	Cryptorchidism, Hypogonadism, Sparse hair, Blepharophimosis, Decreased testicular size, Thick eye...	ORPHA:127
Cardiocranial Syndrome, Pfeiffer Type	Sparse hair, Abnormal hair whorl, Downslanted palpebral fissures, Cryptorchidism	ORPHA:2872
Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:461
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Pancreatitis, Dehydration	OMIM:251000
Shukla-Vernon Syndrome	Sparse hair, Downslanted palpebral fissures	OMIM:301029
Cystinosis	Portal hypertension, Dehydration	ORPHA:213
Rhizomelic Chondrodysplasia Punctata	Alopecia, Epicanthus, Sparse body hair	ORPHA:177
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Pruritus, Jaundice, Acholic stools, Cholestatic liver disease, Cir...	ORPHA:65682
Lacrimal Duct Defect	Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele	OMIM:149700
Peeling Skin Syndrome 4	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:607936
Congenital Erythropoietic Porphyria	Recurrent bacterial skin infections, Scarring alopecia of scalp, Loss of eyelashes, Keratoconjunc...	ORPHA:79277
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fissure, Downslanted...	OMIM:602562
Cranioectodermal Dysplasia	Sparse hair, Epicanthus, Abnormal fingernail morphology, Abnormal toenail morphology	ORPHA:1515
Erythrokeratodermia Variabilis Et Progressiva 3	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis	OMIM:617525
Microvillus Inclusion Disease	Pruritus, Dehydration	ORPHA:2290
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Recurrent pneumonia, Inflammation of the large intestine, Colonic eosinophilia, Blepha...	OMIM:617718
Prolidase Deficiency	Hepatomegaly, Pruritus, Splenomegaly, Crusting erythematous dermatitis, Hyperkeratosis, Palmoplan...	ORPHA:742
Cornelia De Lange Syndrome	Highly arched eyebrow, Curly eyelashes, Cryptorchidism, Synophrys, Low anterior hairline, Primary...	ORPHA:199
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Upslanted palpebral fissure, Narrow palpebral fissure, Sparse hair, Hirsutism	OMIM:618087
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycystic ovaries	OMIM:268020
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec...	ORPHA:2930
Vulvovaginal Gingival Syndrome	Pruritus, Parakeratosis	ORPHA:83453
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Fine hair, Keratoconjunctivitis sicca, Fragile nails, Hypogonadism, ...	OMIM:601675
Diarrhea 1, Secretory Chloride, Congenital	Hyperaldosteronism, Polyhydramnios, Dehydration	OMIM:214700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Conjunctivitis, Erythroderma, Sparse hair, Fragile nails	OMIM:242150
Methylmalonyl-Coa Epimerase Deficiency	Dehydration	OMIM:251120
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Decreased testicular size, Hypogonadism, Decreased fertility, Sparse body hair	ORPHA:2234
Sjögren-Larsson Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:816
Even-Plus Syndrome	Sparse hair, Synophrys, Atopic dermatitis, Highly arched eyebrow	OMIM:616854
Chromosome 5P13 Duplication Syndrome	Epicanthus, Blepharophimosis, Low posterior hairline, Upslanted palpebral fissure, Sparse hair, L...	OMIM:613174
Intellectual Developmental Disorder, Autosomal Dominant 65	Synophrys, Low posterior hairline, Upslanted palpebral fissure, Narrow palpebral fissure, Thin ey...	OMIM:619320
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Lipoid Proteinosis	Pustule, Thickened skin, Hyperkeratosis, Acne	ORPHA:530
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries, Sparse hair, High anterior hairline, Downslanted palpebral fi...	ORPHA:284180
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Pruritus, Splenomegaly, Jaundice, B...	OMIM:617394
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegaly, Hepatic failure, Hepatospl...	OMIM:608013
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital bullous ichthyosiform ery...	OMIM:607602
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Edema, Jaundice, Lipid accumulat...	ORPHA:20
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Erythroderma, ...	OMIM:615508
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Epicanthus, Cryptorchidism, Fine hair, Sparse hair, Downslanted palpebral fissures	OMIM:616817
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Epicanthus, Sparse eyebrow, Synophrys, Sparse hair, Downslanted palpebral fissures	OMIM:620075
Dowling-Degos Disease	Pruritus, Hyperkeratosis, Hyperkeratotic papule, Acne inversa	ORPHA:79145
Psoriasis 14, Pustular	Pustule, Parakeratosis, Psoriasiform dermatitis, Cholangitis	OMIM:614204
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Corticosterone Methyloxidase Type I Deficiency	Dehydration	OMIM:203400
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Follicular hyperker...	OMIM:616295
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Hypergonadotropic hypogo...	ORPHA:2232
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Pruritus, Parakeratosis, Palmoplantar hyperkeratosis	ORPHA:158681
Incontinentia Pigmenti	Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Keratitis, Uveitis, Fine ha...	OMIM:308300
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Death in childhood, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis	OMIM:614457
Desbuquois Syndrome	Abnormal eyelash morphology, Sparse hair	ORPHA:1425
Anauxetic Dysplasia 2	Sparse hair, Nail dysplasia, Small nail	OMIM:617396
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Decreased methylmalonyl-CoA mutase activity, Dehydration	OMIM:251110
Glucose/Galactose Malabsorption	Hypertonic dehydration	OMIM:606824
3-Methylglutaconic Aciduria, Type Viib	Hepatic steatosis, Polyhydramnios, Dehydration	OMIM:616271
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Skin rash, Pustule, Splenomegaly, Joint swelling, Hyperkeratosis	OMIM:612852
Ichthyosis, Annular Epidermolytic, 2	Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:620148
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis	ORPHA:38
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nasolacrimal duct obst...	OMIM:103285
Generalized Eruptive Keratoacanthoma	Keratoconjunctivitis sicca, Conjunctivitis, Ectropion	ORPHA:411777
Scarf Syndrome	Epicanthus, Cryptorchidism, Low posterior hairline, Hypoplastic nipples, Sparse hair, Downslanted...	ORPHA:3134
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:79151
Braddock-Carey Syndrome 1	Sparse hair, Curly hair, Telecanthus, Downslanted palpebral fissures	OMIM:619980
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Ichthyosis, Congenital, Autosomal Recessive 3	Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth...	OMIM:606545
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun...	OMIM:607765
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Abnormal ...	ORPHA:678
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis	ORPHA:300179
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis...	OMIM:158310
Joubert Syndrome 37	Sparse hair, Cryptorchidism, Decreased testicular size, Ptosis	OMIM:619185
Leopard Syndrome 3	Hyperkeratosis, Webbed neck, Epidermal hyperkeratosis	OMIM:613707
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Dehydration, Intermittent jaund...	ORPHA:97282
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, El...	OMIM:235555
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Chronic mucocutaneous candidiasis, Inflammation of the large intestine, Sparse hair, Recu...	ORPHA:98813
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans	OMIM:618527
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Spar...	ORPHA:217346
Ectodermal Dysplasia-Blindness Syndrome	Sparse hair, Keratoconjunctivitis sicca, Abnormal fingernail morphology, Fine hair	ORPHA:1806
Complete Androgen Insensitivity Syndrome	Male infertility, Acne, Sparse axillary hair, Elevated circulating luteinizing hormone level, Spa...	ORPHA:99429
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Cryptorchidism, Sparse hair, Nail dysplasia, ...	OMIM:613026
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Webbed neck	OMIM:615279
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Skin rash, Pruritus, Abnormality of the pancreas, Pruritus on foot...	ORPHA:69665
Beta-Ketothiolase Deficiency	Hepatomegaly, Edema, Dehydration	ORPHA:134
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Upslanted palpebral fissure, Patchy alopecia, Sparse hair, Short palpebral fissure	OMIM:617763
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair, Downslanted palpebral fissures	OMIM:620001
Pearson Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hydrops fetalis, ...	ORPHA:699
Chronic Mucocutaneous Candidiasis	Pruritus, Hyperkeratosis, Skin rash, Hepatitis	ORPHA:1334
Macs Syndrome	Epicanthus, Alopecia, Palpebral edema, Hypergonadotropic hypogonadism, Sparse eyebrow, Cryptorchi...	OMIM:613075
Frontonasal Dysplasia 2	Telecanthus, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Fine h...	OMIM:613451
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Decreased methylmalonyl-CoA mutase activity, Dehydration	OMIM:251100
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Nail dystrophy	OMIM:616353
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,...	ORPHA:1010
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair, Epicanthus, Downslanted palpebral fissures	OMIM:614105
Isolated Congenital Alacrima	Keratitis, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis	ORPHA:91416
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Death in infancy, Erythroderma	OMIM:609180
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Ramon Syndrome	Hyperkeratosis	ORPHA:3019
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Epicanthus, Synophrys, Low anterior hairline, Fine hair, Sparse hair, Downslanted palpebral fissures	ORPHA:391408
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse eyebrow, Sparse eyelashes, Sparse hair	OMIM:224900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media	OMIM:601457
Scarf Syndrome	Epicanthus, Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, S...	OMIM:312830
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse facial hair, Sparse axillary hair	OMIM:608154
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration	OMIM:143860
Ichthyosis, Congenital, Autosomal Recessive 2	Hypergranulosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar keratoderma,...	OMIM:242100
46,Xy Sex Reversal 6	Dysgerminoma, Chordee, Hirsutism, Sparse axillary hair	OMIM:613762
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Dehydration	ORPHA:90791
Menkes Disease	Sparse hair, Alopecia, Brittle hair	OMIM:309400
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Pruritus, Atretic gallbladder, Splenomegaly, Jaundic...	ORPHA:30391
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa	OMIM:617337
Juvenile Temporal Arteritis	Conjunctivitis, Allergic rhinitis	ORPHA:26137
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Downslanted palpebral fissures, Sparse body hair, Hypogonadotropic hypogonadism, Ptosis	ORPHA:3068
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Absent lacrimal punctum, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow...	ORPHA:1071
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Osteoarthritis, Leukonychia, Fine hair, Thin eyebrow,...	OMIM:190350
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Fine hair, Nail ...	OMIM:257980
Cystic Fibrosis	Hepatomegaly, Biliary cirrhosis, Dehydration, Hepatosplenomegaly, Cirrhosis, Steatorrhea, Pancrea...	OMIM:219700
Shigellosis	Peritonitis, Cholestasis, Dehydration, Splenic abscess, Hepatic failure	ORPHA:810
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hypercholesterolem...	OMIM:610644
Nablus Mask-Like Facial Syndrome	Telecanthus, Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Cryptorch...	OMIM:608156
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Sparse eyelashes, Eczema, Absent nipple, Concave nail, Absent eyela...	OMIM:305100
Bartter Syndrome, Type 3	Hyperaldosteronism, Dehydration	OMIM:607364
Noonan Syndrome 14	Curly hair, Epicanthus, Lacrimal duct stenosis, Sparse eyebrow, Cryptorchidism, Low posterior hai...	OMIM:619745
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Hyperkeratosis, Malar rash	ORPHA:163525
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Acantholysis, Facial...	ORPHA:293173
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Recurrent p...	ORPHA:47
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails	ORPHA:77258
Glucose-Galactose Malabsorption	Dehydration	ORPHA:35710
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:617988
Donohue Syndrome	Cholestasis, Hyperkeratosis, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Acanthosis nigr...	OMIM:246200
Familial Renal Glucosuria	Dehydration	ORPHA:69076
Cholera	Miscarriage, Dehydration	ORPHA:173
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Elevate...	ORPHA:94093
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Epicanthus, Alopecia, Sparse eyelashes, Sparse scalp hair, Absent eyelashes, Spar...	OMIM:268400
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow	OMIM:190351
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair, Bronchiectasis, Aspiration pneumonia	OMIM:618253
Cardiofaciocutaneous Syndrome	Epicanthus, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Cryptorchidism, Low pos...	ORPHA:1340
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Myositis, Skin rash, Pustule, Nail dystrophy, Periungual erythema,...	OMIM:615934
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys...	OMIM:150400
Oculodentodigital Dysplasia, Autosomal Recessive	Telecanthus, Epicanthus, Sparse eyelashes, Fine hair, Sparse hair, Downslanted palpebral fissures...	OMIM:257850
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Skin rash, Periorbital edema, ...	OMIM:617591
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis, Erythroderma	OMIM:133190
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Hamamy Syndrome	Hypoparathyroidism, Telecanthus, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Neck pterygia,...	OMIM:611174
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pruritus, Erythema nodosum, Splenomegaly, Jaundice, ...	OMIM:613471
Bainbridge-Ropers Syndrome	Epicanthus, Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Synophrys, Hirsutism, Up...	OMIM:615485
Dend Syndrome	Dehydration	ORPHA:79134
Ruijs-Aalfs Syndrome	Premature graying of hair, Hypogonadism, Sparse hair	OMIM:616200
Aredyld Syndrome	Upslanted palpebral fissure, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Hyperconvex nail, Eczema	OMIM:619721
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Hypohidrotic Ectodermal Dysplasia	Hyperkeratosis, Xerostomia, Eczema, Thin skin	ORPHA:238468
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Upslanted palpebral fissure, Alopecia, Sparse hair, Abnormal toenail morphology	ORPHA:1005
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline, Downslanted pa...	OMIM:250410
Cerebrooculofacioskeletal Syndrome 2	Sparse hair	OMIM:610756
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Palmoplantar keratoderma	OMIM:616029
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Jaundice, Hydrops fetalis, Dehydration	ORPHA:79282
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Epicanthus, Fine hair, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow	OMIM:614091
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Follicular hyperkeratosis	OMIM:617066
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ptosis, Epicanthus, Curly hair, Lacrimal duct stenosis, Slow-growing hair, Highly arched eyebrow,...	OMIM:617506
Costello Syndrome	Acanthosis nigricans, Hyperkeratosis, Polyhydramnios	ORPHA:3071
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Increased circulating lactate dehydrogenase concentration, Peritonitis, Pancreatitis, Dehydration	ORPHA:90038
Renal Hypoplasia	Dehydration	ORPHA:93101
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Death in infancy	ORPHA:163966
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Sparse hair, Alopecia, Abnormal fingernail morphology	ORPHA:659
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Sialidosis Type 1	Splenomegaly, Hyperkeratosis	ORPHA:812
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Recurrent pneumonia, Sparse hair, Downslanted palpebral fissures, Ptosis	OMIM:616449
Familial Benign Chronic Pemphigus	Hyperkeratosis, Acantholysis	ORPHA:2841
Microsporidiosis	Cholangitis, Abnormality of the spleen, Peritonitis, Biliary tract abnormality, Hepatitis, Dehydr...	ORPHA:2552
Goldberg-Shprintzen Syndrome	Telecanthus, Highly arched eyebrow, Synophrys, Sparse hair, Downslanted palpebral fissures, Thick...	OMIM:609460
Agel Amyloidosis	Bilateral ptosis, Keratoconjunctivitis sicca, Blepharochalasis, Nail dystrophy, Sparse hair	ORPHA:85448
Short Syndrome	Sparse hair, Alopecia, Telecanthus	ORPHA:3163
Scalp-Ear-Nipple Syndrome	Epicanthus, Telecanthus, Palpebral edema, Sparse axillary hair, Sparse pubic hair, Lower eyelid c...	OMIM:181270
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair	OMIM:250250
Scalp-Ear-Nipple Syndrome	Telecanthus, Palpebral edema, Abnormal fingernail morphology, Pyelonephritis, Eyelid coloboma, Br...	ORPHA:2036
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Narrow palpebral fissure, Cryptorchidism, Fine hair	OMIM:614438
Dopamine Beta-Hydroxylase Deficiency	Dehydration	ORPHA:230
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Epicanthus, Sparse scalp hair, Eczema, Cryptorchidism, Loose anagen hair, Long eyelas...	OMIM:607721
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis	ORPHA:36386
Down Syndrome	Upslanted palpebral fissure, Epicanthus, Decreased fertility, Sparse hair	ORPHA:870
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Follicular hyperkeratosis	ORPHA:486815
Hallermann-Streiff Syndrome	Telecanthus, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchid...	ORPHA:2108
Bone Marrow Failure Syndrome 3	Epicanthus, Eczema, Pancreatic steatosis, Cryptorchidism, Nail dystrophy, Small nail, Hyperechoge...	OMIM:617052
Pyruvate Carboxylase Deficiency	Hepatomegaly, Dehydration	ORPHA:3008
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Dehydration	ORPHA:168558
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased testicular size, Hypergonadotropic hypogonadism, Dysmenorrhea, Elevated circulating lut...	ORPHA:90796
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse hair, Downslanted palpebr...	OMIM:302960
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Dehydration	ORPHA:289548
Cutis Laxa, Autosomal Recessive, Type Iiia	Sparse hair, Cryptorchidism	OMIM:219150
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypertonic dehydration	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypertonic dehydration	OMIM:304800
Acute Radiation Syndrome	Hyperkeratosis, Inflammatory abnormality of the skin	ORPHA:454831
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Splenomegaly, Atopic dermatitis, Webbed neck, Hyperkeratosis, Ichthyosis	OMIM:115150
Hawkinsinuria	Sparse hair	OMIM:140350
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:615225
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Premature graying of hair, Interstitial pneumonitis, Nail dystr...	OMIM:127550
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Dehydration, Joint swelling, Hyperaldosteronism, Hypercholesterolemia	ORPHA:534
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ...	OMIM:615726
Mosaic Variegated Aneuploidy Syndrome 2	Epicanthus, Decreased response to growth hormone stimulation test, Sparse hair, Blepharophimosis,...	OMIM:614114
Oculodentodigital Dysplasia	Epicanthus, Dry hair, Slow-growing hair, Uveitis, Fine hair, Fragile nails, Sparse hair, Blepharo...	OMIM:164200
Oligomeganephronia	Dehydration	ORPHA:2260
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Dehydration, Oligohydramnios	ORPHA:96191
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Skin rash, Maculopapular exanthema, Jaundice, Dehydration, Pancrea...	ORPHA:99826
Gapo Syndrome	Alopecia, Epicanthus, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Spar...	OMIM:230740
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Hepatomegaly, Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617388
Phosphoribosylpyrophosphate Synthetase Superactivity	Epicanthus, Cryptorchidism, Gout, Sparse hair, Downslanted palpebral fissures, Ptosis	OMIM:300661
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Generalized hyperkeratosis, Generalized ichthyosis	ORPHA:2269
Osteogenesis Imperfecta, Type Xx	Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow	OMIM:618644
Congenital Disorder Of Glycosylation, Type Iia	Hirsutism, Long eyelashes, Sparse hair, Downslanted palpebral fissures, Thick eyebrow	OMIM:212066
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Woodhouse-Sakati Syndrome	Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog...	OMIM:241080
Naxos Disease	Curly hair, Subungual hyperkeratosis, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S...	OMIM:601214
Premature Aging Syndrome, Penttinen Type	Thickened skin, Palmoplantar hyperkeratosis, Corneal stromal edema, Hyperkeratosis, Thin skin	OMIM:601812
Colchicine Poisoning	Dehydration	ORPHA:31824
Cranioectodermal Dysplasia 3	Telecanthus, Short nail, Broad nail, Fine hair, Sparse hair	OMIM:614099
Alternating Hemiplegia Of Childhood	Dehydration	ORPHA:2131
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail	OMIM:268130
Teebi-Shaltout Syndrome	Telecanthus, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Sparse hair, Ptosis	OMIM:272950
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Eczema, Cryptorchidism, Low anterior hairline, Low p...	OMIM:601358
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis	ORPHA:1028
Pachyonychia Congenita	Palmoplantar keratoderma, Linear arrays of macular hyperkeratoses in flexural areas, Follicular h...	ORPHA:2309
Bartter Syndrome Type 4	Hyperaldosteronism, Polyhydramnios, Dehydration	ORPHA:89938
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Hyperkeratosis, Recurrent bacterial skin infections, Ichthyosis	OMIM:148210
Rothmund-Thomson Syndrome	Sparse eyelashes, Skin rash, Alopecia totalis, Sparse eyebrow, Infertility, Small nail, Nail dysp...	ORPHA:2909
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Epidermal hyperkeratosis, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema	OMIM:137940
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Miscarriage, Acne, Dehydration	ORPHA:90794
Relapsing Polychondritis	Episcleritis, Pericarditis, Alopecia, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uve...	ORPHA:728
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Conjunctivitis, Nail dystrophy, Nail dysplasia	OMIM:226600
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dacryocystitis, Cryptorchidism, Fine hair, Sparse hair, Downslanted palpebral fissures, Decreased...	ORPHA:251028
Oculodentodigital Dysplasia	Curly hair, Epicanthus, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hai...	ORPHA:2710
Kaufman Oculocerebrofacial Syndrome	Epicanthus, Telecanthus, Sparse eyebrow, Upslanted palpebral fissure, Sparse hair, Blepharophimos...	OMIM:244450
Noonan Syndrome 10	Increased nuchal translucency, Hyperkeratosis, Pleural effusion, Webbed neck	OMIM:616564
Weaver Syndrome	Deep-set nails, Epicanthus, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Sparse hair, ...	OMIM:277590
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Epicanthus, Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Fine hair, Sparse hair...	OMIM:613563
Tumoral Calcinosis, Normophosphatemic, Familial	Conjunctivitis	OMIM:610455
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Nail dystrophy, Spa...	ORPHA:436252
Juvenile Nephropathic Cystinosis	Elevated alkaline phosphatase of bone origin, Dehydration	ORPHA:411634
Marshall Syndrome	Sparse eyebrow, Osteoarthritis, Sparse eyelashes, Sparse hair	ORPHA:560
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Reduced pancreatic beta cells, Dehydration	ORPHA:99885
Bartter Syndrome, Type 1, Antenatal	Hyperaldosteronism, Polyhydramnios, Dehydration	OMIM:601678
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail	ORPHA:974
Ablepharon Macrostomia Syndrome	Absent eyebrow, Ablepharon, Abnormal hair pattern, Absent eyelashes, Breast hypoplasia, Fine hair...	ORPHA:920
Xeroderma Pigmentosum, Complementation Group E	Keratitis, Entropion, Conjunctivitis, Ectropion	OMIM:278740
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Coarse hair	OMIM:118650
Mandibuloacral Dysplasia	Sparse hair, Alopecia, Hypoplastic fingernail	ORPHA:2457
Glass Syndrome	Downslanted palpebral fissures, Long eyelashes, Sparse hair, Nail dysplasia	OMIM:612313
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair	OMIM:608612
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti...	OMIM:307200
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Sparse hair, Coarse hair, Downslanted palpebral fissures, Thick hair	ORPHA:357074
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
Monosomy 22	Epicanthus, Aplasia of the thymus, Seborrheic dermatitis, Synophrys, Narrow palpebral fissure, Sp...	ORPHA:96123
Severe Generalized Junctional Epidermolysis Bullosa	Pyoderma, Recurrent skin infections, Edema, Dehydration	ORPHA:79404
Xeroderma Pigmentosum, Variant Type	Keratitis, Entropion, Conjunctivitis, Ectropion	OMIM:278750
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:28378
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Conjunctivitis, Lacrimal duct atresia, Lacrimal duct aplasia	OMIM:620192
Mycetoma	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis	ORPHA:2583
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Eczema, Toenail dysplasia, Synophrys, Nasolacrimal duct obstruction, Sparse hair, Chronic otitis ...	OMIM:300966
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Generalized hyperkeratosis	ORPHA:349
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis	ORPHA:363618
Bartter Syndrome, Type 2, Antenatal	Hyperaldosteronism, Polyhydramnios, Dehydration	OMIM:241200
Infantile Nephropathic Cystinosis	Dehydration	ORPHA:411629
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Recurrent pneumonia, Fine ha...	OMIM:234100
Lymphedema-Distichiasis Syndrome	Ectropion, Recurrent skin infections, Tubulointerstitial nephritis, Conjunctivitis, Distichiasis,...	ORPHA:33001
Werner Syndrome	Hyperkeratosis, Miscarriage	ORPHA:902
Hyperoxaluria, Primary, Type I	Dehydration	OMIM:259900
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma...	ORPHA:79501
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Insulinoma, Dehydration, Increased circulating cortisol level, Primary ...	ORPHA:652
Cystinosis, Nephropathic	Splenomegaly, Hepatomegaly, Dehydration, Exocrine pancreatic insufficiency	OMIM:219800
Biotinidase Deficiency	Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis	OMIM:253260
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Downslanted palpebral fissures, Tr...	OMIM:222470
Rothmund-Thomson Syndrome Type 1	Premature ovarian insufficiency, Alopecia totalis, Cryptorchidism, Sparse or absent eyelashes, Hy...	ORPHA:221008
Chilton-Okur-Chung Neurodevelopmental Syndrome	Sparse scalp hair, Hooded eyelid, Anterior pituitary hypoplasia, Highly arched eyebrow, Sparse ey...	OMIM:619841
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Stillbirth, Orthokeratosis	OMIM:308050
White-Sutton Syndrome	Upslanted palpebral fissure, Downslanted palpebral fissures, Sparse hair	OMIM:616364
Distal Renal Tubular Acidosis	Dehydration	ORPHA:18
Cerebellar-Facial-Dental Syndrome	Sparse eyebrow, Cryptorchidism, Fine hair, S-shaped palpebral fissures, Sparse hair	ORPHA:444072
Opitz-Kaveggia Syndrome	Epicanthus, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Downslanted palpebra...	OMIM:305450
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Oligozoospermia, Nail dysplasia, Small nail, Sparse hair, Breast hypoplasia	OMIM:614813
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Recurrent pneumonia, Cheilitis, Nail dystrophy, Sparse ha...	ORPHA:158668
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Death in infancy, Recurrent skin infections, E...	OMIM:308205
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Brittle hair, Chordee, Fine hair	OMIM:618891
Singleton-Merten Syndrome 2	Hyperkeratosis	OMIM:616298
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Polyhydramnios	ORPHA:223
Familial Keratoacanthoma	Hyperkeratosis	ORPHA:493
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:612199
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Xeroderma Pigmentosum, Complementation Group D	Entropion, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion	OMIM:278730
Noonan Syndrome 2	Hyperkeratosis, Increased nuchal translucency, Polyhydramnios	OMIM:605275
Reactive Arthritis	Pustule, Joint swelling, Hyperkeratosis	ORPHA:29207
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Entropion, Conjunctivitis, Ectropion	OMIM:278720
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Orofaciodigital Syndrome Type 1	Epicanthus, Brittle hair, Telecanthus, Alopecia, Pancreatic cysts, Coarse hair, Sparse hair, Chro...	ORPHA:2750
Ullrich Congenital Muscular Dystrophy 1	Follicular hyperkeratosis	OMIM:254090
De Barsy Syndrome	Sparse hair, Cryptorchidism, Epicanthus, Downslanted palpebral fissures	ORPHA:2962
Cranioectodermal Dysplasia 2	Unilateral ptosis, Epicanthus, Telecanthus, Sparse eyelashes, Cholangitis, Sparse eyebrow, Recurr...	OMIM:613610
Orofaciodigital Syndrome I	Epicanthus, Telecanthus, Dry hair, Alopecia, Pancreatic cysts, Ovarian cyst, Sparse hair, Downsla...	OMIM:311200
Ectodermal Dysplasia And Immunodeficiency 2	Sparse hair, Aplasia of the sweat glands, Sparse scalp hair	OMIM:612132
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Epicanthus, Telecanthus, Highly arched eyebrow, Fine hair, Hydrocele testis, Hypoplastic nipples,...	OMIM:280000
Marshall-Smith Syndrome	Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Aspirat...	OMIM:602535
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hyperkeratosis	OMIM:301220
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis, Lymphedema	ORPHA:79280
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Ablepharon, Hypoplasia of eyelid, Absent eyelashes, Hypoplastic nipples, Sparse h...	OMIM:200110
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Epicanthus, Absent nipple, Aplasia of the thymus, Sparse eyebrow, Hydrocele testis, Lacrimal duct...	OMIM:620186
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair, Epicanthus, Ptosis	OMIM:619934
Fabry Disease	Hyperkeratosis, Hyperlipidemia, Lymphedema	ORPHA:324
Short Stature, Microcephaly, And Endocrine Dysfunction	Sparse hair, Cryptorchidism	OMIM:616541
Craniolenticulosutural Dysplasia	Sparse hair, Cryptorchidism, Coarse hair, Brittle hair	OMIM:607812
Cogan Syndrome	Episcleritis, Keratitis, Uveitis, Scleritis, Conjunctivitis, Inflammatory abnormality of the eye	ORPHA:1467
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Testicular mass, Uveitis, Paralytic lagophthalmos, I...	ORPHA:548
Chime Syndrome	Epicanthus, Fine hair, Upslanted palpebral fissure, Sparse hair, Ptosis	ORPHA:3474
Menke-Hennekam Syndrome 1	Epicanthus, Telecanthus, Thick eyebrow, Cryptorchidism, Upslanted palpebral fissure, Long eyelash...	OMIM:618332
Lymphedema-Distichiasis Syndrome	Ptosis, Yellow nails, Conjunctivitis, Distichiasis, Ectropion	OMIM:153400
Cranioectodermal Dysplasia 1	Epicanthus, Telecanthus, Slow-growing hair, Short nail, Thin nail, Fine hair, Tubulointerstitial ...	OMIM:218330
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Loss of eyelashes, Conjunctivitis, Cholelithiasis, Hypertrichosis	OMIM:263700
Incontinentia Pigmenti	Hyperkeratosis, Skin rash	ORPHA:464
Lymphatic Filariasis	Hyperkeratosis, Predominantly lower limb lymphedema, Lymphedema	ORPHA:2035
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair	OMIM:615349
Rothmund-Thomson Syndrome Type 2	Alopecia totalis, Cryptorchidism, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasi...	ORPHA:221016
Mucolipidosis Ii Alpha/Beta	Epicanthus, Brittle hair, Palpebral edema, Sparse eyebrow, Recurrent pneumonia, Sparse hair, Recu...	OMIM:252500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seb...	ORPHA:83617
Primary Fanconi Renotubular Syndrome	Dehydration	ORPHA:3337
Proximal Renal Tubular Acidosis	Dehydration	ORPHA:47159
Leprechaunism	Hepatomegaly, Thickened skin, Hyperkeratosis, Hyperaldosteronism, Acanthosis nigricans	ORPHA:508
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Premature ovarian insufficiency, Abnormal hair morphology, Abno...	ORPHA:79474
Intellectual Developmental Disorder, Autosomal Dominant 54	Sparse hair, Thin nail, Eczema	OMIM:617799
Stuve-Wiedemann Syndrome 1	Sparse hair, Short palpebral fissure	OMIM:601559
Lenz-Majewski Hyperostotic Dwarfism	Lacrimal duct stenosis, Anterior pituitary hypoplasia, Cryptorchidism, Chordee, Sparse hair	OMIM:151050
Restrictive Dermopathy	Telecanthus, Entropion, Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glan...	ORPHA:1662
Renpenning Syndrome 1	Epicanthus, Brittle hair, Telecanthus, Upslanted palpebral fissure, Sparse hair, Decreased testic...	OMIM:309500
Restrictive Dermopathy 1	Polyhydramnios, Epidermal hyperkeratosis, Stillbirth, Thin skin, Neonatal death, Oligohydramnios	OMIM:275210
Kanzaki Disease	Hyperkeratosis, Lymphedema	OMIM:609242
Cartilage-Hair Hypoplasia	Sparse eyebrow, Epicanthus, Sparse hair	ORPHA:175
Myhre Syndrome	Cryptorchidism, Fine hair, Narrow palpebral fissure, Sparse hair, Blepharophimosis, Thick eyebrow	OMIM:139210
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis	OMIM:615510
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair, Osteomyelitis	ORPHA:565
Arthrogryposis And Ectodermal Dysplasia	Hyperkeratosis	OMIM:601701
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Death in childhood, Hyperkeratosis, Stillbirth, Prolonged neonatal jaundice, Ol...	OMIM:210710
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Epicanthus, Eczema, Pseudohypoparathyroidism, Sparse hair, Frontal hirsutism, Short palpebral fis...	OMIM:617157
Hermansky-Pudlak Syndrome	Hyperkeratosis, Thickened skin	ORPHA:79430
Costello Syndrome	Deep-set nails, Curly hair, Epicanthus, Thin nail, Concave nail, Sparse hair, Downslanted palpebr...	OMIM:218040
Kindler Epidermolysis Bullosa	Hyperkeratosis, Palmoplantar keratoderma, Recurrent skin infections	ORPHA:2908
Neurocardiofaciodigital Syndrome	Sparse eyebrow, Narrow palpebral fissure, Sparse hair	OMIM:619869
Lysinuric Protein Intolerance	Sparse hair, Pancreatitis, Fine hair	OMIM:222700
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Blepharophimosis, Cryptorchidism, Sparse hair	OMIM:620005
Koolen-De Vries Syndrome Due To A Point Mutation	Hyperkeratosis, Eczema, Ichthyosis	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hyperkeratosis, Eczema, Ichthyosis	ORPHA:363958
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis	OMIM:620189
Cockayne Syndrome A	Dry hair, Cryptorchidism, Irregular menstruation, Hypogonadism, Sparse hair	OMIM:216400
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Follicular hyperkeratosis, Polyhydramnios	OMIM:614557
Warburg-Cinotti Syndrome	Joint swelling, Thin skin, Follicular hyperkeratosis	OMIM:618175
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Cryptorchidism, Loss of eyelashes, Thin eyebrow, Sparse hair, Downslanted palpebral fis...	ORPHA:2636
Cockayne Syndrome B	Sparse hair, Cryptorchidism, Dry hair, Abnormal hair morphology	OMIM:133540
Mandibuloacral Dysplasia Progeroid Syndrome	Sparse eyebrow, Nail dystrophy, Sparse hair, Shallow orbits	OMIM:619127
Branchiooculofacial Syndrome	Telecanthus, Hypoplastic fingernail, Supernumerary nipple, Cryptorchidism, Nasolacrimal duct obst...	OMIM:113620
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Thin skin, Follicular hyperkeratosis	OMIM:225400
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Supernumerary nipple, Cryptorchidism, Patchy alopecia, Nail dystrophy,...	OMIM:305600
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Seborrheic dermatitis	ORPHA:276280
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Sparse scalp hair, Bilateral cryptorchidism, Recurrent pneumonia, Fragile nail...	OMIM:150230
Wrinkly Skin Syndrome	Epicanthus, Short nail, Cryptorchidism, Sparse hair, Downslanted palpebral fissures, Fragile nails	OMIM:278250
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Entropion, Recurrent skin infections, Decreased response to growth hormone sti...	ORPHA:3455
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab...	ORPHA:2968
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Sparse hair, Cryptorchidism, Nail dysplasia	OMIM:616682
De Sanctis-Cacchione Syndrome	Parakeratosis	OMIM:278800
Roberts Syndrome	Sparse hair, Cryptorchidism	ORPHA:3103
Kyphoscoliotic Ehlers-Danlos Syndrome	Thin skin, Follicular hyperkeratosis	ORPHA:536545
Wrinkly Skin Syndrome	Sparse hair, Cryptorchidism, Epicanthus, Downslanted palpebral fissures	ORPHA:2834
Primrose Syndrome	Sparse scalp hair, Epicanthus, Hypergonadotropic hypogonadism, Absent facial hair, Bilateral cryp...	OMIM:259050
6Q Terminal Deletion Syndrome	Hyperkeratosis	ORPHA:75857
Ramon Syndrome	Hyperkeratosis	OMIM:266270
Lipodystrophy, Familial Partial, Type 7	Sparse hair, Sparse scalp hair, Recurrent pancreatitis	OMIM:606721
Cowden Syndrome	Palmoplantar keratoderma, Generalized hyperkeratosis	ORPHA:201
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Orthokeratotic hyperkeratosis, Epidermal thickening, Thickened skin	ORPHA:73223
Proteus Syndrome	Splenomegaly, Thickened skin, Generalized hyperkeratosis, Lymphedema	ORPHA:744
Pallister-Killian Syndrome	Sparse scalp hair, Telecanthus, Epicanthus, Sparse eyelashes, Alopecia, Supernumerary nipple, Spa...	OMIM:601803
Roberts-Sc Phocomelia Syndrome	Cryptorchidism, Eyelid coloboma, Shallow orbits, Sparse hair, Downslanted palpebral fissures	OMIM:268300

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 Scd2

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 Scd2.

No publications found that use IMPC mice or data for Scd2.

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MGI Allele	Allele Type	Produced
Scd2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Scd2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Scd2^{tm81157(L1L2_Pgk_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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