Not currently registered for phenotyping at IMPC

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

Gene Summary

stearoyl-Coenzyme A desaturase 2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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 Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hypotrichosis 1
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... OMIM:605389
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Hypotrichosis 13
Sparse and thin eyebrow, Sparse hair, Woolly hair OMIM:615896
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Hypotrichosis 10
Sparse eyelashes, Sparse eyebrow, Sparse body hair OMIM:614238
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Hypotrichosis 7
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair OMIM:604379
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse eyelashes, Blepharitis, Sparse body hair OMIM:618535
Clouston Syndrome
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... OMIM:129500
Flotch Syndrome
Sparse eyelashes, Abnormal eyelid morphology, Inflammatory abnormality of the eye, Abnormality of... ORPHA:2045
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Witkop Syndrome
Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits OMIM:189500
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h... ORPHA:2722
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Curly hair, Pili torti, Sparse and thin eyebrow, Sparse hair, Blepharitis OMIM:602400
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair OMIM:614931
Woolly Hair, Autosomal Recessive 3
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair OMIM:616760
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyelashes, Folliculitis, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Keratitis, ... OMIM:612843
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Olmsted Syndrome, X-Linked
Posterior blepharitis, Alopecia totalis, Blepharitis, Subungual hyperkeratosis OMIM:300918
Hypotrichosis 5
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair OMIM:612841
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Folliculitis, Dystrophic fingernails, Ectropion, Scarring alopecia of scalp, Ke... OMIM:308800
Ifap Syndrome 2
Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Angular cheilitis, Keratitis, Posterior ble... OMIM:619016
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis ORPHA:737
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis OMIM:146750
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse eyelashes, Abnormal hair morphology, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sp... ORPHA:1808
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair ORPHA:505
Cerebellar Ataxia And Ectodermal Dysplasia
Alopecia, Sparse hair OMIM:212835
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Pili torti, Reduced terminal:vellus ratio, Sparse hair OMIM:601553
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Alopecia Universalis
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes ORPHA:701
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... ORPHA:3361
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Alopecia, Sparse hair OMIM:203600
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Porokeratosis Of Mibelli
Pruritus, Porokeratosis, Hyperkeratosis ORPHA:735
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... OMIM:602032
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... OMIM:614929
Hypertrichosis Lanuginosa Congenita
Double eyebrow, Congenital, generalized hypertrichosis OMIM:145700
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Hypogonadotropic hypogonadism, Sparse pubic hair, Primary amenorrhea, Sparse axillar... OMIM:146110
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Crandall Syndrome
Fine hair, Brittle hair, Alopecia, Hypogonadism, Abnormal testis morphology, Pili torti, Aplasia/... ORPHA:202
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp OMIM:610753
Hair Defect With Photosensitivity And Mental Retardation
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair OMIM:234030
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair OMIM:617294
Palmoplantar Keratoderma And Woolly Hair
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... OMIM:616099
Hypotrichosis 12
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... OMIM:615885
Tooth Agenesis, Selective, 8
Sparse hair, Sparse eyebrow OMIM:617073
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Abnormal eyelid morphology, Keratitis, Chemosis, Loss of eyelashes, B... ORPHA:163934
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Periodontitis, Alopecia universalis, Abnormal eyelash morpho... ORPHA:1008
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis, Hypergonadotropic hypogonadism ORPHA:1014
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... ORPHA:573
Angioma Serpiginosum, X-Linked
Fine hair, Nail dystrophy, Sparse hair OMIM:300652
Lichen Planus Pemphigoides
Blepharitis, Abnormality of the nail, Conjunctivitis ORPHA:254478
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Spar... ORPHA:1818
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Orthokeratotic hyperkeratosis, Edema, Palmoplantar keratoderma, Palmar pruritus ORPHA:498359
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617574
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Atopic dermatitis, Sparse hair, Ptosis, Thick eyebrow, Widow's peak OMIM:606242
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Stillbirth OMIM:265880
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Sparse body hair, Nail dystrophy, Ankyloblepharon, Absent eyelashes, Lacrimal d... OMIM:106260
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair OMIM:158000
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Sparse eyelashes, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, Generalized hypot... OMIM:257960
Rothmund-Thomson Syndrome, Type 1
Thin nail, Nail dystrophy, Absent eyebrow, Absent eyelashes, Recurrent otitis media, Male hypogon... OMIM:618625
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Generalized hypotrichosis OMIM:207780
Leukonychia Totalis
Adenoma sebaceum, Abnormal toenail morphology, Abnormal fingernail morphology, Blepharitis, Abnor... ORPHA:2387
Hypotrichosis 6
Sparse eyelashes, Brittle hair, Pili torti, Sparse and thin eyebrow, Sparse hair OMIM:607903
Cole Disease
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:615522
Hidrotic Ectodermal Dysplasia, Halal Type
Abnormal fingernail morphology, Absent eyebrow, Absent eyelashes, Abnormal toenail morphology, Na... ORPHA:1809
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis ORPHA:79503
Oliver-Mcfarlane Syndrome
Hypogonadotropic hypogonadism, Alopecia, Long eyelashes, Cryptorchidism, Decreased response to gr... OMIM:275400
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:444
Choroidal Atrophy-Alopecia Syndrome
Fine hair, Ungual fibroma, Abnormal toenail morphology, Sparse or absent eyelashes, Abnormal fing... ORPHA:1433
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent pneumonia, Blepharitis, Recurrent sinusitis, Conjunctivitis OMIM:604173
Gilbert Syndrome
Dehydration, Jaundice OMIM:143500
Focal Facial Dermal Dysplasia 3, Setleis Type
Absent lower eyelashes, Low anterior hairline, Epicanthus, Distichiasis, Sparse hair OMIM:227260
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Thickened skin, Hyperkeratosis ORPHA:1659
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Congenital ichthyosiform erythroderma, Hyperkeratosis OMIM:270220
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Pustule, Paronychia, Onychogryposis, Blepharitis OMIM:614328
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Angular cheilitis, Leukonychia, Sparse axill... OMIM:613102
Acrodermatitis Enteropathica
Pustule, Ridged nail, Cheilitis, Alopecia, Abnormal eyebrow morphology, Abnormal eyelid morpholog... ORPHA:37
Acrokeratosis Verruciformis
Acrokeratosis, Hyperkeratosis OMIM:101900
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Sparse eyelashes, Epicanthus, Sparse eyebrow, Downslanted palpebral fissures, Hypoplastic toenail... OMIM:616901
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Moynahan Syndrome
Hypogonadism, Alopecia, Sparse hair ORPHA:2574
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopa... ORPHA:79147
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Sparse hair OMIM:272980
Bazex-Dupré-Christol Syndrome
Sparse and thin eyebrow, Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse or absent eyelashe... ORPHA:113
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Candidiasis, Familial, 8
Seborrheic dermatitis, Blepharitis OMIM:615527
Lactase Deficiency, Congenital
Dehydration, Decreased small intestinal mucosa lactase level OMIM:223000
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Cryptorchidism, Sparse body hair ORPHA:85274
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Fine hair, Sparse eyelashes, Nail dysplasia, Slow-growing hair, Sparse and thin eyebrow, Sparse hair OMIM:129490
Palmoplantar Keratoderma, Nagashima Type
Hypergranulosis, Orthokeratotic hyperkeratosis OMIM:615598
Inflammatory Skin And Bowel Disease, Neonatal, 2
Edema, Dehydration, Pustule OMIM:616069
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Sparse lateral eyebrow, Absent eyelashes, Distichiasis, Sparse hair ORPHA:79133
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
Diarrhea 2, With Microvillus Atrophy
Death in infancy, Dehydration OMIM:251850
Limb-Mammary Syndrome
Psoriasiform dermatitis, Absent lacrimal punctum, Hypoplastic nipples, Alopecia, Sparse eyebrow, ... ORPHA:69085
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Acquired Ichthyosis
Pruritus, Palmoplantar keratoderma, Recurrent skin infections, Ichthyosis, Hyperkeratosis ORPHA:454
Harlequin Ichthyosis
Erythroderma, Ichthyosis, Hyperkeratosis, Dehydration, Congenital ichthyosiform erythroderma ORPHA:457
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Decreased liver function, Neonatal death, Dehydration OMIM:602199
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair OMIM:211390
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:89838
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Sparse hair OMIM:129810
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Ptosis, Fingernail dysplasia, Abnormal eyelid morphology, Sparse scalp hair, Trichodysplasia, Spa... ORPHA:1660
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Alopecia Antibody Deficiency
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Abnormal eyelash morphology ORPHA:1006
Schopf-Schulz-Passarge Syndrome
Small nail, Apocrine hidrocystoma, Onycholysis, Ridged nail, Thin nail, Narrow nail, Sparse hair,... OMIM:224750
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Alopecia, Sparse hair OMIM:616353
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Plantar hyperkeratosis, Palmar hyperkeratosis, Hyperkeratosis ORPHA:79399
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair OMIM:164680
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Cholestasis-Lymphedema Syndrome
Lymphedema, Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver dis... OMIM:214900
Classic Mycosis Fungoides
Hepatomegaly, Eczema, Pruritus, Edema, Splenomegaly, Skin rash, Hyperkeratosis ORPHA:2584
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Alopecia, Sparse eyebrow, Nail dysplasia, Leukonychia, Sparse hair OMIM:104100
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Psoriasiform dermatitis, Blepharitis OMIM:616834
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Cardiofaciocutaneous Syndrome 2
Fine hair, Ptosis, Absent eyebrow, Curly hair, Sparse hair OMIM:615278
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Giant cell hepatitis, Cholestatic liver disease, Ichthyosis, Elevated hepatic t... OMIM:208085
Anonychia With Flexural Pigmentation
Follicular hyperkeratosis, Hyperkeratosis ORPHA:69125
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Pseudopelade Of Brocq
Abnormal hair morphology, Cheilitis, Alopecia, Recurrent skin infections, Abnormality of the nail... ORPHA:129
Neonatal Inflammatory Skin And Bowel Disease
Psoriasiform dermatitis, Chronic monilial nail infection, Pustule, Chapped lip, Horizontal eyebro... ORPHA:294023
Kid Syndrome
Trichilemmoma, Sparse eyelashes, Acne inversa, Sparse hair, Conjunctivitis, Folliculitis, Recurre... ORPHA:477
Parana Hard Skin Syndrome
Thickened skin, Hyperkeratosis ORPHA:2812
Lamellar Ichthyosis
Erythroderma, Pruritus, Ichthyosis, Hyperkeratosis, Dehydration ORPHA:313
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis OMIM:617571
Pili Torti-Onychodysplasia Syndrome
Conjunctival hyperemia, Eczema, Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent ey... ORPHA:2890
Glycogen Storage Disease Vi
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... OMIM:232700
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Dehydration OMIM:618958
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Cryptorchidism, Sparse hair ORPHA:1174
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Absent lacrimal punctum, Upslanted palpebral fissure, Hypoplastic lacrimal duct, Cryptorchidism, ... OMIM:273390
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Premature ovarian insufficiency, Cryptorchidism, Decreased testicular size, Sparse ... ORPHA:261483
Heyn-Sproul-Jackson Syndrome
Sparse hair, Epicanthus OMIM:618724
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Chronic Hiccup
Dehydration ORPHA:396
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Dehydration ORPHA:289504
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... OMIM:613736
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the nail, Palpebral edema, Sparse hair... OMIM:607823
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Malar rash, Skin rash... ORPHA:90280
Trichoodontoonychial Dysplasia With Bone Deficiency
Nail dystrophy, Nail dysplasia, Sparse hair, Supernumerary nipple OMIM:275450
Trichothiodystrophy 4, Nonphotosensitive
Keratoconjunctivitis sicca, Sparse eyelashes, Small nail, Brittle hair, Epicanthus, Trichorrhexis... OMIM:234050
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:617525
Enteric Anendocrinosis
Portal hypertension, Dehydration, Cholestatic liver disease ORPHA:83620
Pseudoprogeria Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow, Sparse hair ORPHA:2985
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Ridged fingernail, Sparse hair ORPHA:2251
Bazex Syndrome
Acanthosis nigricans, Pruritus, Edema, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis ORPHA:166113
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Alopecia ORPHA:50944
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Upslanted palpebral fissure, Sparse hair, Alopecia, Short palpebral fissure OMIM:617763
17Q23.1Q23.2 Microdeletion Syndrome
Highly arched eyebrow, Chronic otitis media, Long eyelashes, Epicanthus, Blepharitis ORPHA:261279
Sea-Blue Histiocytosis
Blepharitis ORPHA:158029
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Dehydration ORPHA:28
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Epicanthus, Abnormal hair pattern, Downslanted pal... ORPHA:1807
Alopecia-Intellectual Disability Syndrome
Alopecia, Hypergonadotropic hypogonadism, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, S... ORPHA:2850
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Sparse eyelashes, Hypoplastic nipples, Sparse axillary hair, Nail dystro... OMIM:604292
Bazex Syndrome
Atopic dermatitis, Eczema, Coarse hair, Acne inversa, Trichorrhexis nodosa, Pili torti, Sparse ha... OMIM:301845
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Eec Syndrome
Fine hair, Nail dystrophy, Coarse hair, Hypoplasia of the thymus, Keratitis, Thick eyebrow, Infla... ORPHA:1896
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Ectropion, Nail dystrophy, Alopecia, Nail dysplasia, Sparse hair OMIM:242300
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Eczema, Sparse hair, Sparse body hair ORPHA:1810
Gand Syndrome
Narrow palpebral fissure, Sparse hair, Blepharophimosis OMIM:615074
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Sparse eyelashes, Hypoplastic nipples, Sparse axillary hair, Hypogonadot... OMIM:129900
X-Linked Hypohidrotic Ectodermal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair, Anterior hypopituitarism ORPHA:181
Coffin-Siris Syndrome 3
Hypertrichosis, Hirsutism, Long eyelashes, Thick eyebrow, Sparse scalp hair, Sparse hair OMIM:614608
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosif... ORPHA:312
Trichohepatoenteric Syndrome 2
Colitis, Brittle hair, Hepatitis, Trichorrhexis nodosa, Uncombable hair, Woolly hair, Sparse hair... OMIM:614602
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Dehydration, Increased circulating 18-hydroxycortison... OMIM:610600
Björnstad Syndrome
Hypogonadism, Brittle hair, Alopecia ORPHA:123
Atrophoderma Vermiculata
Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis ORPHA:79100
Pachyonychia Congenita 4
Palmoplantar keratoderma, Hyperkeratosis OMIM:615728
Netherton Syndrome
Eczema, Acanthosis nigricans, Erythroderma, Congenital nonbullous ichthyosiform erythroderma, Ski... ORPHA:634
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Absent facial hair, Hypergonadotropic hypogonadism, Low posterior hairline, Sparse f... ORPHA:2183
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Neonatal death, Hepatic cysts, Splenomegaly, Oligohydramnios, Por... OMIM:263200
Epidermolytic Palmoplantar Keratoderma
Epidermal hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Di... ORPHA:2199
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Hirsutism, Low anterior hairline, Long eyelashes, Thick eyebrow, Upper eyelid edema, Sparse hair OMIM:616819
Familial Cold Urticaria
Pruritus, Dehydration ORPHA:47045
Protoporphyria, Erythropoietic, 1
Eczema, Pruritus, Edema, Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Fine hair, Sparse hair ORPHA:2118
Reticular Dysgenesis
Dehydration, Skin rash ORPHA:33355
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Parak... ORPHA:64745
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Pustule, Cholelithiasis, Glucocortocoid-insensitive primary hyperaldosteronism... ORPHA:171876
Lessel-Kubisch Syndrome
Hypogonadism, Sparse pubic hair, Premature graying of hair OMIM:618681
Erythrokeratodermia Variabilis Et Progressiva 4
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Xeroderma Pigmentosum
Ectropion, Ankyloblepharon, Alopecia, Conjunctival telangiectasia, Keratitis, Hypogonadism, Bleph... ORPHA:910
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Small nail, Hypoplastic nipples, Nasolacrimal duct obstruction, Hypogonadism, Sparse hair OMIM:273400
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis OMIM:133200
Pityriasis Rubra Pilaris
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k... ORPHA:2897
Keratoderma Hereditarium Mutilans With Ichthyosis
Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Hypergranulosis, Congenital nonb... ORPHA:79395
Blepharocheilodontic Syndrome 1
Small nail, Distichiasis, High anterior hairline, Ectropion of lower eyelids, Sparse hair OMIM:119580
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Death in infancy, Ascites, Cirrhosis, Cholestasis, Hepatic fail... OMIM:617156
Moebius Syndrome
Ptosis, Hypogonadotropic hypogonadism, Epicanthus, Breast aplasia, Blepharitis ORPHA:570
Autosomal Agammaglobulinemia
Hepatitis, Dehydration, Skin rash, Recurrent skin infections ORPHA:33110
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Eczema, Abnormal hair morphology, Thin eyebrow, Hyperconvex fingernails, Uveitis, Sparse hair, Ab... ORPHA:2273
Ichthyosis With Confetti
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:609165
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... OMIM:601375
Dyskeratosis Congenita
White hair, Nail dystrophy, Alopecia, Neoplasm of the pancreas, Abnormal eyebrow morphology, Peri... ORPHA:1775
Olmsted Syndrome 2
Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Palmo... OMIM:619208
Intermediate Generalized Junctional Epidermolysis Bullosa
Anonychia, Nail dystrophy, Scarring alopecia of scalp, Sparse body hair ORPHA:79402
Juvenile Xanthogranuloma
Uveitis, Blepharitis, Iritis ORPHA:158000
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Dehydration OMIM:143860
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Eczema, Curly eyelashes, Alopecia, Abnormal hair pattern, Long eyelashes, ... ORPHA:3051
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Eczema, Ichthyosis, Hyperkeratosis OMIM:612379
Psoriasis 2
Hyperkeratosis, Psoriasiform dermatitis, Parakeratosis OMIM:602723
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... ORPHA:284426
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic fibrosis, Ascites, Pruritus, Fatal liver failure in inf... ORPHA:275761
Ichthyosis Prematurity Syndrome
Erythroderma, Pruritus, Polyhydramnios, Follicular hyperkeratosis, Generalized ichthyosis OMIM:608649
Oligodontia-Colorectal Cancer Syndrome
Absent eyebrow, Sparse scalp hair, Sparse axillary hair, Sparse body hair, Short eyelashes OMIM:608615
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Sparse pubic hair, Absent facial hair, P... OMIM:300068
Filippi Syndrome
Frontal hirsutism, Cryptorchidism, Sparse hair, Hypertrichosis OMIM:272440
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Dehydration, Pancreatitis, Splenomegaly ORPHA:79312
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Fine hair, Sparse eyelashes, Hypoplastic nipples, Downslanted palpebral fissures, Distichiasis, A... OMIM:211370
Palmoplantar Keratoderma And Congenital Alopecia 2
Sclerodactyly, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:212360
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Dehydration ORPHA:556030
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Rosselli-Gulienetti Syndrome
Progressive hypotrichosis, Sparse and thin eyebrow, Sparse eyelashes, Nail dysplasia OMIM:225000
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyelashes, Sparse and thin eyebrow, Scarring alopecia of scalp, Sparse scalp hair, Sparse ... ORPHA:59303
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congenital nonbullous i... OMIM:601952
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Hypercholesterolemia, Elevated circulating alkaline ... OMIM:616829
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Progressive hypotrichosis, Sparse eyelashes, Brittle hair, Abnormality of hair texture, Nail dysp... OMIM:225060
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis ORPHA:89843
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Alopecia universalis, Sparse hair OMIM:614594
Hypotrichosis Simplex Of The Scalp
Hyperkeratosis, Pruritus, Atopic dermatitis, Parakeratosis ORPHA:90368
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Palmoplantar keratoderma, Parakeratosis, Ichthyosis, Hyperkeratosis OMIM:615821
Onychotrichodysplasia And Neutropenia
Curly eyelashes, Trichorrhexis nodosa, Sparse pubic hair, Chronic irritative conjunctivitis, Curl... OMIM:258360
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma, Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Congenital nonbull... OMIM:612281
Mental Retardation, Autosomal Recessive 5
Eczema, Telecanthus, Thick eyebrow, Sparse hair, Blepharophimosis, Synophrys OMIM:611091
Neonatal Lupus Erythematosus
Hepatomegaly, Splenomegaly, Abnormality of the liver, Parakeratosis, Malar rash, Maculopapular ex... ORPHA:398124
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration, Hyperaldosteronism OMIM:264350
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Pruritus, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hep... ORPHA:79301
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Ectropion, Facial hypertrichosis, Scarring alopecia of scalp, Recurrent ... ORPHA:95159
Dyskeratosis Congenita, X-Linked
Sparse eyelashes, Split nail, Ridged nail, Nail dystrophy, Alopecia, Pterygium of nails, Blephari... OMIM:305000
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans ORPHA:409
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Erythroderma, Ichthyosis, Hyperkeratosis OMIM:602540
Frontonasal Dysplasia 2
Sparse eyelashes, Upslanted palpebral fissure, Alopecia, Short palpebral fissure, Sparse and thin... OMIM:613451
Propionic Acidemia
Hepatomegaly, Eczema, Propionyl-CoA carboxylase deficiency, Pancreatitis, Dehydration OMIM:606054
Progeroid Syndrome, Petty Type
Long eyelashes in irregular rows, Abnormal hair morphology, Brittle hair, Epicanthus, Thick eyebr... ORPHA:2963
Familial Renal Glucosuria
Dehydration ORPHA:69076
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Oligomenorrhea,... OMIM:228300
Meige Disease
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Recurrent bacter... ORPHA:90186
Lichen Planopilaris
Pruritus, Hepatitis, Hyperkeratosis ORPHA:525
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Dehydration, Pancreatitis ORPHA:27
Cholestasis, Intrahepatic, Of Pregnancy, 1
Pruritus, Abnormal liver function tests during pregnancy, Elevated hepatic transaminase, Intrahep... OMIM:147480
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Lymphatic Malformation 4
Lymphedema, Hyperkeratosis OMIM:615907
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration, Hyperaldosteronism OMIM:177735
Fanconi Anemia, Complementation Group S
Ovarian neoplasm, Low anterior hairline, Upslanted palpebral fissure, Epicanthus, Long eyelashes,... OMIM:617883
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:613943
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Portal fibrosis, Hepatic fibrosis, Pruritus, Cholestasis, Prolo... OMIM:619377
Tooth Agenesis, Selective, 4
Sparse hair, Sparse eyebrow, Short eyelashes OMIM:150400
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Palpebral edema, Sparse scalp hair, Sparse body hair,... ORPHA:69735
White Sponge Nevus 2
Edema, Hyperparakeratosis OMIM:615785
Wolcott-Rallison Syndrome
Hepatomegaly, Ascites, Abnormality of the liver, Acute hepatic failure, Elevated hepatic transami... ORPHA:1667
Juvenile Idiopathic Arthritis
Hepatomegaly, Psoriasiform dermatitis, Pericardial effusion, Thickened skin, Splenomegaly, Skin r... ORPHA:92
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Skin rash, Hyperkeratosis ORPHA:317
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Uncombable hair ORPHA:1264
Progeroid Facial Appearance With Hand Anomalies
Upslanted palpebral fissure, Sparse hair, Blepharophimosis OMIM:602249
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Inflammation of the large intestine, Chronic otitis media, Abnormality of the ... ORPHA:906
Ectodermal Dysplasia, Trichoodontoonychial Type
Absent nipple, Sparse hair OMIM:129510
Noonan Syndrome 6
Bilateral ptosis, Epicanthus, Downslanted palpebral fissures, Curly hair, Low posterior hairline,... OMIM:613224
Netherton Syndrome
Erythroderma, Angioedema, Hypernatremic dehydration, Parakeratosis, Congenital nonbullous ichthyo... OMIM:256500
Lelis Syndrome
Absent lower eyelashes, Yellow nails, Nail dystrophy, Sparse lateral eyebrow, Upslanted palpebral... ORPHA:140936
Bathing Suit Ichthyosis
Erythroderma, Ectropion, Nail dystrophy, Alopecia, Sparse hair ORPHA:100976
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyelashes, Hypoplastic nipples, Rhinitis, Sparse lateral eyebrow, Sparse scalp hair, Absen... OMIM:614941
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Death in infancy, Peau d'orange, Elevated gamma-glutamyltransferase level, Cirrhosi... OMIM:614576
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Eleva... OMIM:301045
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Orthokeratosis, Hypergranulosis, Parakeratosis OMIM:604117
Mednik Syndrome
Intrahepatic cholestasis, Ichthyosis, Hyperkeratosis ORPHA:171851
Ectodermal Dysplasia/Skin Fragility Syndrome
Sparse hair, Dystrophic fingernails OMIM:604536
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, O... OMIM:615508
Blepharophimosis, Ptosis, And Epicanthus Inversus
Highly arched eyebrow, Amenorrhea, Ptosis, Telecanthus, Sparse pubic hair, Increased circulating ... OMIM:110100
Trichothiodystrophy 7, Nonphotosensitive
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma OMIM:618546
Odontoonychodermal Dysplasia
Fine hair, Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse body hair, Sparse scalp h... OMIM:257980
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Lymphedema, Hepatomegaly, Hyperkeratosis ORPHA:79279
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:604777
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Upslanted palpebral fissure, Epicanthus, Hypoplastic fingernail, ... ORPHA:280633
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Upslanted palpebral fissure, Narrow palpebral fissure, Sparse hair, Hirsutism OMIM:618087
Shukla-Vernon Syndrome
Sparse hair, Downslanted palpebral fissures OMIM:301029
Cerebrooculofacioskeletal Syndrome 2
Sparse hair OMIM:610756
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Dehydration, Pancreatitis OMIM:251000
Milroy Disease
Lymphedema, Hyperkeratosis, Pedal edema, Erysipelas, Predominantly lower limb lymphedema ORPHA:79452
Mcdonough Syndrome
Ptosis, Upslanted palpebral fissure, Hypoplastic toenails, Cryptorchidism, Sparse hair, Synophrys OMIM:248950
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Tetrasomy 12P
Ptosis, Upslanted palpebral fissure, Telecanthus, Sparse and thin eyebrow, Sparse hair ORPHA:884
Central Diabetes Insipidus
Dehydration ORPHA:178029
Noonan Syndrome 8
Eczema, Webbed neck, Polyhydramnios, Hyperkeratosis, Pleural effusion OMIM:615355
Hyperkeratotic papule, Lymphedema, Pruritus, Edema, Hyperparakeratosis, Hyperkeratosis, Predomina... ORPHA:182
Johnson Neuroectodermal Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Downslanted palpebral fissures, Hypogonadism, Sparse ... ORPHA:2316
Cerebellofaciodental Syndrome
Fine hair, Sparse and thin eyebrow, Sparse hair OMIM:616202
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Keratoderma Hereditarium Mutilans
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:494
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse eyelashes, Alopecia, Absent eyebrow, Absent eyelashes, Epicanthus, Palpebral edema, Membra... OMIM:137940
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Sparse lateral eyebrow, Abnormal eyelid mo... ORPHA:1787
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair OMIM:613576
Secondary Short Bowel Syndrome
Steatorrhea, Cholestasis, Dehydration ORPHA:95427
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Pruritus, Elevated gamma-glutamyltransfe... OMIM:619662
Androgen Insensitivity Syndrome
Sparse axillary hair, Sparse pubic hair, Male infertility, Absent pubic hair, Cryptorchidism, Abs... ORPHA:754
Ulerythema Ophryogenesis
Hyperkeratotic papule, Follicular hyperkeratosis, Acne, Contact dermatitis ORPHA:3406
Irida Syndrome
Intrahepatic cholestasis, Ichthyosis, Hyperkeratosis ORPHA:209981
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Dehydration OMIM:560000
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Coarse hair, Sparse hair ORPHA:1883
Diarrhea 1, Secretory Chloride, Congenital
Dehydration, Hyperaldosteronism, Polyhydramnios OMIM:214700
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each fin... OMIM:148700
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Cholangitis, Sparse eyelashes, Alopecia, Thick hair, Sparse hair OMIM:607626
Superficial Epidermolytic Ichthyosis
Acantholysis, Edema, Palmoplantar keratoderma, Thin skin, Ichthyosis ORPHA:455
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Conjunctivitis OMIM:612692
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Congenital Tufting Enteropathy
Dehydration, Steatorrhea, Cholestatic liver disease ORPHA:92050
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Hypogonadism, Cryptorchidism, Decreased testicular size... OMIM:300869
Pruritus, Hyperkeratosis ORPHA:79358
Isovaleric Acidemia
Dehydration OMIM:243500
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis OMIM:173200
Rhizomelic Chondrodysplasia Punctata
Alopecia, Epicanthus, Sparse body hair ORPHA:177
Chromosome 5P13 Duplication Syndrome
Upslanted palpebral fissure, Epicanthus, Short palpebral fissure, Low posterior hairline, Sparse ... OMIM:613174
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:616449
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent nipple, Sparse hair, Absent hair OMIM:614940
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Flynn-Aird Syndrome
Hyperkeratosis OMIM:136300
Proteus Syndrome
Hyperkeratosis, Splenomegaly OMIM:176920
Localized Junctional Epidermolysis Bullosa
Atrophic, patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Scarring a... ORPHA:251393
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Pruritus, Cholelithiasis, Pancreatitis, Cholestatic liv... ORPHA:65682
Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis ORPHA:461
Microvillus Inclusion Disease
Pruritus, Dehydration ORPHA:2290
Rapp-Hodgkin Syndrome
Fine hair, Small nail, Absent lacrimal punctum, Ptosis, Recurrent otitis media, Decreased number ... OMIM:129400
Johnson Neuroectodermal Syndrome
Hypogonadotropic hypogonadism, Alopecia, Absent eyebrow, Absent eyelashes, Sparse hair, Decreased... OMIM:147770
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Ectropion, Facial hypertrichosis, Scarring alopecia of scalp, Recurrent ... ORPHA:79277
Adrenal Hypoplasia, Congenital
Dehydration, Decreased circulating cortisol level OMIM:300200
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Dystrophic fingernails, Dystrophic toenail, Sparse lateral eyebrow, Nail d... ORPHA:3253
Cranioectodermal Dysplasia
Abnormal toenail morphology, Abnormal fingernail morphology, Sparse hair, Epicanthus ORPHA:1515
Portal hypertension, Dehydration ORPHA:213
Trichothiodystrophy 1, Photosensitive
Fine hair, Keratoconjunctivitis sicca, Tiger tail banding, Small nail, Erythroderma, Brittle hair... OMIM:601675
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Pruritus, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Bili... OMIM:617394
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Pruritus, Splenomegaly, Cirrhosis, Elevat... OMIM:602347
Macs Syndrome
Bronchiectasis, Alopecia, Downslanted palpebral fissures, Palpebral edema, Hypergonadotropic hypo... OMIM:613075
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Secondary amenorrhea, Sparse hair, Hypergonadotropic hypogonadism OMIM:268020
Lacrimal Duct Defect
Sinusitis, Dacryocystocele, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis OMIM:149700
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Ichthyosis, Congenital, Autosomal Recessive 2
Palmoplantar keratoderma, Hypergranulosis, Congenital nonbullous ichthyosiform erythroderma, Hype... OMIM:242100
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Sparse hair, Downslanted palpebral fissures, Abnormal hair whorl ORPHA:2872
Cornelia De Lange Syndrome
Highly arched eyebrow, Hypoplastic nipples, Low anterior hairline, Ptosis, Curly eyelashes, Long ... ORPHA:199
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis ORPHA:83453
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea, Elevated circulati... OMIM:613812
Ichthyosis, Congenital, Autosomal Recessive 3
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Hyperkeratosis OMIM:606545
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Cronkhite-Canada Syndrome
Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Alopecia, Hypoplastic toenails, Abno... ORPHA:2930
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Ectropion, Synophrys, Recurrent otitis media, Downslanted palpebral fissures, Long palpebral fiss... OMIM:602562
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Prolidase Deficiency
Hepatomegaly, Pruritus, Palmoplantar keratoderma, Thin skin, Splenomegaly, Hyperkeratosis, Crusti... ORPHA:742
2Q32Q33 Microdeletion Syndrome
Fine hair, Sparse hair, Decreased testicular size, Downslanted palpebral fissures ORPHA:251019
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis OMIM:607936
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Aplasia/Hypoplasia of the eyebrow, Sparse hair ORPHA:261304
Psoriasis 14, Pustular
Cholangitis, Pustule, Psoriasiform dermatitis, Parakeratosis OMIM:614204
Anauxetic Dysplasia 2
Nail dysplasia, Small nail, Sparse hair OMIM:617396
Sjögren-Larsson Syndrome
Ichthyosis, Hyperkeratosis ORPHA:816
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis OMIM:616029
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Nonimmune hydrops fetalis, Ascites, Neonatal death, Polyhydramnios, Splenomegaly, H... OMIM:608013
Juvenile Temporal Arteritis
Allergic rhinitis, Conjunctivitis ORPHA:26137
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Acne inversa, Hyperkeratosis OMIM:617337
Lipoid Proteinosis
Acne, Pustule, Thickened skin, Hyperkeratosis ORPHA:530
Hereditary Mucoepithelial Dysplasia
Fine hair, Alopecia, Sparse hair ORPHA:1839
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Dehydration OMIM:251110
Nablus Mask-Like Facial Syndrome
Highly arched eyebrow, Sparse eyelashes, Hypoplastic nipples, Low anterior hairline, Short palpeb... OMIM:608156
Intellectual Developmental Disorder, Autosomal Dominant 65
Narrow palpebral fissure, Thin eyebrow, Upslanted palpebral fissure, Low posterior hairline, Spar... OMIM:619320
Isolated Congenital Alacrima
Ptosis, Lacrimal punctal atresia, Keratitis, Distichiasis, Lacrimal gland hypoplasia, Conjunctivitis ORPHA:91416
Dowling-Degos Disease
Hyperkeratotic papule, Pruritus, Acne inversa, Hyperkeratosis ORPHA:79145
Hepatomegaly, Ascites, Increased circulating cortisol level, Neoplasm of the pancreas, Neoplasm o... ORPHA:97282
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79151
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Lipid accumulation in hepatocytes, Edema, Acute pancreatitis, Elevated hepatic tran... ORPHA:20
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Alopecia of scalp, Streak ovary, Hypergonadotropic hypogonadism, Alopecia, Abnormal ... ORPHA:2232
Desbuquois Syndrome
Sparse hair, Abnormal eyelash morphology ORPHA:1425
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Dehydration OMIM:251100
Papillon-Lefèvre Syndrome
Hypertrichosis, Pustule, Chronic furunculosis, Recurrent cutaneous abscess formation, Nail dystro... ORPHA:678
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Fine hair, Epicanthus, Downslanted palpebral fissures, Cryptorchidism, Sparse hair OMIM:616817
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Alopecia, Fragile nails, Conjunctivitis OMIM:242150
Even-Plus Syndrome
Atopic dermatitis, Highly arched eyebrow, Sparse hair, Synophrys OMIM:616854
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries, Downslanted palpebral fissures, High anterior hairline, Spars... ORPHA:284180
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Parakeratosis ORPHA:158681
Trichothiodystrophy 5, Nonphotosensitive
Slow-growing hair, Brittle hair, Sparse hair, Tiger tail banding OMIM:300953
Borjeson-Forssman-Lehmann Syndrome
Ptosis, Hypogonadism, Thick eyebrow, Cryptorchidism, Sparse hair, Decreased testicular size, Blep... ORPHA:127
Adult Syndrome
Conjunctivitis, Eczema, Hypoplastic nipples, Alopecia of scalp, Sparse axillary hair, Sparse scal... OMIM:103285
Incontinentia Pigmenti
Atrophic, patchy alopecia, Fine hair, Hypoplastic nipples, Sparse hair, Ridged nail, Nail dystrop... OMIM:308300
Generalized Eruptive Keratoacanthoma
Keratoconjunctivitis sicca, Ectropion, Conjunctivitis ORPHA:411777
Normosmic Congenital Hypogonadotropic Hypogonadism
Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decrea... ORPHA:432
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Cutis Laxa, Autosomal Recessive, Type Iiib
Fine hair, Cryptorchidism, Sparse hair, Blepharophimosis OMIM:614438
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Arthritis, Otitis media, Purulent rhinitis, Conjunctivitis OMIM:601457
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Pustule, Splenomegaly, Skin rash, Hyperkeratosis, Joint swelling OMIM:612852
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, Pneumonia, Bronchiectasis, Recurrent otitis media, Crohn's disease, Recurrent pneumoni... OMIM:601495
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis ORPHA:300179
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypogonadism, Decreased testicular size, Sparse body hair, Decreased fertility ORPHA:2234
Leopard Syndrome 3
Epidermal hyperkeratosis, Webbed neck, Hyperkeratosis OMIM:613707
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis ORPHA:38
46,Xy Sex Reversal 6
Chordee, Sparse axillary hair, Hirsutism, Dysgerminoma OMIM:613762
Scarf Syndrome
Hypoplastic nipples, Ptosis, Epicanthus, Downslanted palpebral fissures, Low posterior hairline, ... ORPHA:3134
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Complete Androgen Insensitivity Syndrome
Sparse axillary hair, Acne, Sparse pubic hair, Bilateral cryptorchidism, Male infertility, Primar... ORPHA:99429
46,Xx Gonadal Dysgenesis
Abnormality of secondary sexual hair, Secondary amenorrhea, Streak ovary, Sparse pubic hair, Incr... ORPHA:243
Menkes Disease
Sparse hair OMIM:309400
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse eyelashes, Ptosis, Sparse eyebrow, Long palpebral fissure, Short palpebral fissure, Nail d... OMIM:613026
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair OMIM:224900
Porokeratosis 3, Multiple Types
Porokeratosis, Parakeratosis OMIM:175900
Palmoplantar Keratoderma, Punctate Type Ia
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis OMIM:148600
Ectodermal Dysplasia-Blindness Syndrome
Fine hair, Abnormal fingernail morphology, Sparse hair, Keratoconjunctivitis sicca ORPHA:1806
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Nodular regenerative hyperplasia of liver, Eleva... OMIM:619463
Pearson Syndrome
Hepatomegaly, Macronodular cirrhosis, Corneal stromal edema, Hydrops fetalis, Splenomegaly, Abnor... ORPHA:699
Beta-Ketothiolase Deficiency
Hepatomegaly, Edema, Dehydration ORPHA:134
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Splenomegaly, Cirrhosis,... OMIM:607765
Cardiofaciocutaneous Syndrome 3
Webbed neck, Hyperkeratosis OMIM:615279
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Steatorrhea, Elevated circulating alkaline phosphatase concentration,... OMIM:235555
Intrahepatic Cholestasis Of Pregnancy
Ascites, Pruritus, Abnormality of the pancreas, Elevated circulating alkaline phosphatase concent... ORPHA:69665
19Q13.11 Microdeletion Syndrome
Fine hair, Sparse lateral eyebrow, Nail dysplasia, Sparse or absent eyelashes, Cryptorchidism, Sp... ORPHA:217346
Congenital Disorder Of Glycosylation, Type If
Erythroderma, Hyperkeratosis OMIM:609180
Ramon Syndrome
Hyperkeratosis ORPHA:3019
Joubert Syndrome 37
Cryptorchidism, Sparse hair, Decreased testicular size, Ptosis OMIM:619185
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse axillary hair, Sparse facial hair OMIM:608154
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Fine hair, Low anterior hairline, Epicanthus, Downslanted palpebral fissures, Sparse hair, Synophrys ORPHA:391408
Chronic Mucocutaneous Candidiasis
Pruritus, Hepatitis, Skin rash, Hyperkeratosis ORPHA:1334
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Sparse eyelashes, Absent hair, Ridged nail, Nail dystrophy, Sparse eyebrow, Absent eyebrow, Trich... ORPHA:1010
Rodrigues Blindness
Fine hair, Sparse hair OMIM:268320
Hepatoportal Sclerosis
Hepatocellular carcinoma, Ascites, Pruritus, Nodular regenerative hyperplasia of liver, Abnormal ... ORPHA:64743
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Sparse hair OMIM:183849
Bartter Syndrome, Type 3
Dehydration, Hyperaldosteronism OMIM:607364
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypogonadotropic hypogonadism, Downslanted palpebral fissures, Sparse body hair, Ptosis ORPHA:3068
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Nonimmune hydrops fetalis, Neonatal death, Decreased liver function, Decreased ... OMIM:618835
Reynolds Syndrome
Hepatomegaly, Pruritus, Splenomegaly, Sclerodactyly, Steatorrhea, Elevated circulating alkaline p... OMIM:613471
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Absent lacrimal punctum, Dystrophic fingernails, Dystrophic toenail, Ankyloblep... ORPHA:1071
Scarf Syndrome
Hypoplastic nipples, Low anterior hairline, Ptosis, Epicanthus, Downslanted palpebral fissures, L... OMIM:312830
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Nonimmune hydrops fetalis, Neonatal death, Decreased liver function, Decreased ... OMIM:618839
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Scalp-Ear-Nipple Syndrome
Fine hair, Narrow palpebral fissure, Abnormal hair morphology, Epicanthus, Pyelonephritis, Nail d... OMIM:181270
Cartilage-Hair Hypoplasia
Fine hair, Sparse eyelashes, Sparse and thin eyebrow, Sparse hair, Sparse facial hair, Fair hair OMIM:250250
Trichorhinophalangeal Syndrome, Type I
Fine hair, Thin eyebrow, Sparse lateral eyebrow, Thin nail, Slow-growing hair, Osteoarthritis, Le... OMIM:190350
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Dehydration, Decreased circulating cortisol level ORPHA:90791
Splenic abscess, Peritonitis, Cholestasis, Hepatic failure, Dehydration ORPHA:810
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Ptosis, Telecanthus, Downslanted palpebral fissures, Thick eyebrow, Sparse... OMIM:609460
Syndromic Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis ORPHA:281090
Trichorhinophalangeal Syndrome Type 1 And 3
Sparse eyelashes, Fragile nails, Leukonychia, Sparse and thin eyebrow, Sparse hair ORPHA:77258
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hypercholesterolemia, Sclerodactyly, Hyp... OMIM:610644
Cystic Fibrosis
Hepatomegaly, Pancreatitis, Cirrhosis, Hepatosplenomegaly, Steatorrhea, Exocrine pancreatic insuf... OMIM:219700
Donohue Syndrome
Acanthosis nigricans, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis, Hyperkera... OMIM:246200
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
X-Linked Agammaglobulinemia
Sinusitis, Recurrent cutaneous abscess formation, Chronic otitis media, Alopecia, Hepatitis, Arth... ORPHA:47
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Rothmund-Thomson Syndrome, Type 2
Narrow palpebral fissure, Sparse eyelashes, Annular pancreas, Nail dystrophy, Alopecia, Sparse ey... OMIM:268400
Trichorhinophalangeal Syndrome, Type Iii
Sparse lateral eyebrow, Sparse hair OMIM:190351
Sting-Associated Vasculopathy, Infantile-Onset
Pustule, Myositis, Nail dystrophy, Malar rash, Nailfold capillary tortuosity, Skin rash, Pustular... OMIM:615934
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Dehydra... ORPHA:94093
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Cholelithiasis, Elevated gamma-glutamyltransferas... ORPHA:567983
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Acanthosis nigricans, Splenomegaly, Hypertriglyceridemia, Skin rash, Elevated hepat... OMIM:617591
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Ridged nail, Nail dystrophy, Alopecia, Sparse hair, Premature graying o... OMIM:127550
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis OMIM:617066
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Linear Verrucous Nevus Syndrome
Hyperkeratosis ORPHA:2611
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Aredyld Syndrome
Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:1133
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Aplasia/Hypoplastia of the eccrine sweat glands, Eczema, Sparse eyelashes, Hypoplastic nipples, R... OMIM:305100
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal toenail morphology, Sparse hair, Upslanted palpebral fissure, Alopecia ORPHA:1005
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Ichthyosis, Hyperkeratosis OMIM:614457
Pachyonychia Congenita 3
Chapped lip, Palmoplantar keratoderma, Palmar hyperkeratosis, Hyperkeratosis, Plantar hyperkeratosis OMIM:615726
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecystitis... ORPHA:131
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Palmoplantar keratoderma, Hyperkeratosis OMIM:616295
Hypohidrotic Ectodermal Dysplasia
Xerostomia, Eczema, Thin skin, Hyperkeratosis ORPHA:238468
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Small nail, Sparse eyelashes, Sparse eyebrow, Downslanted palpebral fissures, High anterior hairl... OMIM:250410
Bone Marrow Failure Syndrome 3
Eczema, Small nail, Nail dystrophy, Epicanthus, Downslanted palpebral fissures, Cryptorchidism, A... OMIM:617052
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Fine hair, Epicanthus, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Sparse hair OMIM:614091
Cardiofaciocutaneous Syndrome
Fine hair, Dystrophic fingernails, Ptosis, Brittle hair, Epicanthus, Downslanted palpebral fissur... ORPHA:1340
Bainbridge-Ropers Syndrome