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Gene: Scd1 MGI:98239

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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 1
Synonyms:
Scd-1,  SCD,  stearoyl-CoA desaturase

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 Scd1 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 Scd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Proliferating Trichilemmal Cyst
Skin ulcer, Sparse scalp hair, Epidermoid cyst ORPHA:492
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Dry skin, Alopecia of sc... ORPHA:2269
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hyperg... ORPHA:79395
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody... ORPHA:3361
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial erythema, Palmoplantar hyperke... OMIM:212360
Tooth Agenesis, Selective, 8
Dry skin, Sparse eyebrow, Sparse hair OMIM:617073
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Sparse scalp hair, Fine hair, Alopecia of scalp, Parakerato... ORPHA:90368
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Pruritus, Perifollicular hy... ORPHA:505
Peeling Skin Syndrome 3
Abnormal hair morphology, Erythema, White scaling skin OMIM:616265
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum, Chronic furunculosis OMIM:619986
Dermoodontodysplasia
Dry skin, Nail dysplasia, Trichodysplasia, Ectodermal dysplasia, Thin skin OMIM:125640
Keratosis Palmoplantaris Striata Ii
Abnormal hair morphology, Epidermal acanthosis, Palmoplantar keratoderma, Abnormality of the nail OMIM:612908
Ichthyosis, Annular Epidermolytic, 1
Erythema, Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Ichthyosis, Palmoplantar ... OMIM:607602
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Hyperkeratosis, Congenital nonbullous icht... OMIM:617571
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Erythema, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkeratosis, Scaling skin,... ORPHA:530838
Bathing Suit Ichthyosis
Thickened skin, Alopecia, Nail dystrophy, Ichthyosis, Parakeratosis, Hypohidrosis, Palmoplantar h... ORPHA:100976
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Scaling skin, Epidermal aca... OMIM:607936
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Abnormal fingernail morphol... ORPHA:2722
Dermoodontodysplasia
Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Dry skin, Trichodysplasia, Ectodermal ... ORPHA:1660
Peeling Skin Syndrome 5
Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:617115
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin, Ichthyosis OMIM:146700
Peeling Skin Syndrome 2
Erythema, Abnormality of the nail, Scaling skin OMIM:609796
Ichthyosis With Erythrokeratoderma
Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Leukonychia, Diffuse p... OMIM:620507
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Schopf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Dry skin, ... OMIM:224750
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Ulerythema Ophryogenesis
Hyperkeratotic papule, Sparse lateral eyebrow, Dry skin, Facial erythema, Follicular hyperkeratos... ORPHA:3406
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair... ORPHA:2890
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Hair-nail ectodermal dysplasia, Thin toenail, Dystrophic toenail, Sparse hair OMIM:614928
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair, Dry skin, Sparse eyelashes, Sl... OMIM:618535
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Congenital ichthyosiform erythroderma, Nail dystrophy, Ichthyosis, Parakeratosis, Nail ... OMIM:242300
Cole Disease
Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Abnormal hair m... OMIM:615522
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin, Ichthyosis ORPHA:2271
Odontoonychodermal Dysplasia
Erythema, Dry hair, Sparse body hair, Dry skin, Follicular hyperkeratosis, Thin nail, Epidermal a... OMIM:257980
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Atrichia With Papular Lesions
Sparse hair, Generalized papillary lesions OMIM:209500
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Scal... OMIM:604536
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Dry skin, Ridged nail, Sparse eyelashes, Ectodermal dysplasia, Slow-gr... OMIM:129490
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa... OMIM:614594
Huriez Syndrome
Palmoplantar keratoderma, Small nail, Dry skin, Lack of skin elasticity, Sclerodactyly, Abnormali... ORPHA:384
Classic Mycosis Fungoides
Erythema, Alopecia, Skin ulcer, Eczematoid dermatitis, Dry skin, Skin rash, Abnormal eyelid morph... ORPHA:2584
Olmsted Syndrome 2
Alopecia universalis, Cheilitis, Palmoplantar keratoderma, Perioral hyperkeratosis, Woolly hair, ... OMIM:619208
Keratosis, Focal Palmoplantar And Gingival
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... OMIM:148730
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,... OMIM:604117
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Hypertriglyceridemia, Increased adipose ... ORPHA:71529
Diffuse Palmoplantar Keratoderma, Bothnian Type
Erythema, Papule, Skin ulcer ORPHA:2337
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Alopecia totalis, Para... OMIM:300918
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyebrow, Orthokeratosis, Dry skin, Ichthyosis, Sclerosing cholangitis, Sparse ey... OMIM:607626
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogryposis OMIM:617756
Erythrokeratodermia Variabilis Et Progressiva 6
Abnormal hair morphology, Parakeratosis, Pruritus, Superficial dermal perivascular inflammatory i... OMIM:618531
Erythrokeratodermia Variabilis
Erythema, Alopecia, Abnormal hair morphology, Dry skin, Patchy palmoplantar hyperkeratosis, Skin ... ORPHA:317
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Palmoplantar hyperkeratosis, Epidermal acanthosis, Hyperkeratosis, Congenital nonbullou... OMIM:617526
Candidiasis, Familial, 1
Alopecia, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Bazex Syndrome
Yellow nails, Palmoplantar keratoderma, Nail dystrophy, Parakeratosis, Acanthosis nigricans, Scal... ORPHA:166113
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Ichthyosis, Parakeratosis, Pruri... OMIM:615821
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Ichthyosis, Annular Epidermolytic, 2
Erythema, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperkeratosis, Scal... OMIM:620148
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Orthokeratosis, Sparse lateral eyebrow, Eczematoid dermatitis, Acne inv... OMIM:617337
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Acral Peeling Skin Syndrome
Erythema, Skin erosion, Excessive wrinkling of palmar skin, Macule, Scaling skin, Papule ORPHA:263534
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Dry skin, Abnormal... ORPHA:248
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Hypohidrosis, Epidermal acanth... OMIM:612281
Hidrotic Ectodermal Dysplasia
Thickened skin, Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, ... ORPHA:189
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Leukonychia, Epidermal acant... OMIM:617525
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:615598
Kerion Celsi
Alopecia, Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous ab... ORPHA:499
Epidermolytic Hyperkeratosis 1
Congenital bullous ichthyosiform erythroderma, Epidermal acanthosis, Palmoplantar hyperkeratosis,... OMIM:113800
Anonychia With Flexural Pigmentation
Dry skin, Anonychia OMIM:106750
Ichthyosis-Hypotrichosis Syndrome
Sparse hair, Ichthyosis ORPHA:91132
Hypotrichosis 6
Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, ... OMIM:607903
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Erythematous papule, Skin-colored papule, Cutis laxa, Skin plaque, Epiderm... ORPHA:79148
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Dermal atrophy, Alope... OMIM:617294
Ichthyosis With Confetti
Hypertrichosis, Ichthyosis, Hypoplastic nipples, Palmoplantar hyperkeratosis, Erythroderma, Scali... OMIM:609165
Juvenile Hyaline Fibromatosis
Skin ulcer, Abnormal hair morphology, Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Papule ORPHA:2028
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Sparse hair, Anterior hypopituitarism, Premature skin wrinkling ORPHA:631
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Nail dystrophy, Linear arrays of macular hyper... OMIM:601952
Dermatofibrosarcoma Protuberans
Erythema, Subcutaneous nodule, Skin ulcer ORPHA:31112
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Blindness, Reduced visual acuity, Pili torti, Sparse hair, Abnorma... OMIM:601553
Quinquaud Folliculitis Decalvans
Erythema, Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Recurre... ORPHA:346
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Folliculitis, Palmoplantar keratoderma, Dry skin, Nail dystrophy, Sparse eyelashe... OMIM:308800
Psoriasis 2
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:602723
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Lamellar Ichthyosis
Dry skin, Renal insufficiency, Ichthyosis, Lack of skin elasticity, Erythroderma, Aplasia/Hypopla... ORPHA:313
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Plantar hyperkeratosis, Alopecia, Pruritus, Nail dystrophy OMIM:616487
Phenylketonuria
Elevated urinary gamma-glutamylphenylalanine level, Fair hair, Increased level of hippuric acid i... OMIM:261600
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Palmoplantar ery... OMIM:104100
Peeling Skin Syndrome 6
Parakeratosis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopulmonary infections, Pyoderma ... OMIM:616576
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... OMIM:613000
Netherton Syndrome
Allergic rhinitis, Brittle scalp hair, Sparse eyebrow, Eczematoid dermatitis, Angioedema, Hyperna... OMIM:256500
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Lichen Planopilaris
Alopecia, Hypopigmented skin patches, Skin ulcer, Abnormal fingernail morphology, Dermal atrophy,... ORPHA:525
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Hyperkeratosis ORPHA:2297
Chilblain Lupus 1
Skin ulcer, Abnormality of the nail OMIM:610448
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse scalp hair, Sparse body hair, Ichthyosis, Aplasia/Hypoplasia of the eyebrow, Sho... ORPHA:2850
L-Ferritin Deficiency
Alopecia OMIM:615604
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Alopecia of scalp, Follicular hyperkeratosis, Anonychia, Hyperkeratosis ORPHA:69125
Ichthyosis, Congenital, Autosomal Recessive 13
Palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis OMIM:617574
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Hair-nail ectodermal dysplasia, Sparse body hair, Cong... OMIM:602032
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis, Hyperkeratosis OMIM:615028
Acquired Ichthyosis
Erythema, Palmoplantar keratoderma, Dry skin, Ichthyosis, Hyperkeratosis ORPHA:454
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Dry skin, Leukonychia, Onycholysis, Epidermal acanthosis, Follicular hyperkeratosis, Punctate pal... OMIM:616295
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Dry skin, Alopecia of scalp, Cryptorchidism, Low posterior hairline, P... ORPHA:2617
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Large for gestational age, Increased hepatic glycogen content, Nonketot... ORPHA:293964
Acral Self-Healing Collodion Baby
Erythema, Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Lack of skin elasticity ORPHA:281127
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Psoriasiform dermatitis, Recurrent ski... OMIM:615508
Kondoh Syndrome
Atopic dermatitis, Thick eyebrow, Ptosis, Sparse hair, Widow's peak OMIM:606242
Dracunculiasis
Subcutaneous nodule, Skin ulcer, Recurrent cutaneous abscess formation ORPHA:231
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair ORPHA:1008
Dowling-Degos Disease 4
Epidermal acanthosis, Papule OMIM:615696
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hyperinsulinemia, C... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hyperinsulinemia, C... ORPHA:71526
Verrucous Hemangioma
Skin plaque, Hyperkeratotic papule, Epidermal acanthosis ORPHA:464318
Idiopathic Localized Lipodystrophy
Erythema, Scleroderma, Scaling skin, Morphea ORPHA:90158
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Psoriasiform lesion,... ORPHA:284426
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Congenital Heart Defects And Ectodermal Dysplasia
High anterior hairline, Thin skin, Dry skin, Medial flaring of the eyebrow, Sparse scalp hair, Fr... OMIM:617364
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Acrocyanosis, Abnormality of the nail OMIM:302000
Aredyld
Generalized hypotrichosis, Ectodermal dysplasia OMIM:207780
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Dry skin, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Multinodular goiter,... OMIM:618373
Aplasia Cutis-Myopia Syndrome
Meningitis, Aplasia cutis congenita, Skin ulcer ORPHA:1117
Peeling Skin Syndrome 1
Nail dystrophy, Onycholysis, Palmoplantar hyperhidrosis, Scaling skin, Brittle hair OMIM:270300
Netherton Syndrome
Aminoaciduria, Sparse eyebrow, Eczematoid dermatitis, Fine hair, Dehydration, Abnormal hair morph... ORPHA:634
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Erythroderma, Epider... OMIM:604777
Necrobiosis Lipoidica
Erythema, Indurated nodule, Skin ulcer, Skin nodule, Atrophic scars, Skin plaque, Papule, Annular... ORPHA:542592
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Parakeratosis, Pal... ORPHA:64745
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Skin vesic... OMIM:613102
Psoriasis 14, Pustular
Erythema, Psoriasiform dermatitis, Nail dystrophy, Pustule, Parakeratosis, Oligoarthritis, Cholan... OMIM:614204
Albinism, Oculocutaneous, Type Ib
Albinism, Photophobia, Hypopigmentation of hair, Visual impairment OMIM:606952
Red Skin Pigment Anomaly Of New Guinea
Abnormal hair morphology, Photophobia OMIM:266350
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Hypertr... OMIM:617885
Hyperkeratosis Lenticularis Perstans
Aplasia/Hypoplasia of the skin, Papule, Skin ulcer ORPHA:409
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Alopecia, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Skin frag... ORPHA:79397
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hypergranulosis, Hypohidrosis, Erythroderma, Ectropion, Epidermal acanthosis, Hyp... OMIM:615023
Aplasia Cutis Congenita
Erythema, Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Con... ORPHA:1114
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair,... OMIM:158000
Albinism, Oculocutaneous, Type Vi
Photophobia, Reduced visual acuity, Visual impairment, Fair hair OMIM:113750
Vulvovaginal Gingival Syndrome
Erythema, Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus ORPHA:83453
Parana Hard Skin Syndrome
Thickened skin, Growth delay, Generalized hirsutism, Short stature, Hyperkeratosis ORPHA:2812
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Leopard Syndrome 2
Webbed neck, Downslanted palpebral fissures, Dry skin, Epicanthus, Curly hair OMIM:611554
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Generalized hirsutism, Skin ulcer ORPHA:2218
Recessive X-Linked Ichthyosis
Dry skin, Hyperkeratosis, Ichthyosis ORPHA:461
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly
Sparse eyebrow, Onychogryposis of toenails, Dry skin, Long palpebral fissure, Ectodermal dysplasia OMIM:600906
Acrogeria
Skin ulcer, Fine hair, Excessive wrinkled skin, Telangiectasia of the skin, Prematurely aged appe... ORPHA:2500
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Epicanthus, Distichiasis, Aged leonine appearance, Sparse hair, Absent low... OMIM:227260
Brooke-Spiegler Syndrome
Skin ulcer, Skin appendage neoplasm, Skin-colored papule, Abnormality of the submandibular glands... ORPHA:79493
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Melanocytic nevus, Dystrophic fingernail... ORPHA:1882
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Short stature, Pr... OMIM:618625
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent viral infections, Skin ulcer, Recurrent candida infections, Recurrent sinusitis, Onycho... ORPHA:217390
Obesity And Hypopigmentation
Red hair, Polyphagia, Hyperinsulinemia OMIM:620195
Leopard Syndrome 3
Webbed neck, Palpebral thickening, Downslanted palpebral fissures, Dry skin, Low posterior hairli... OMIM:613707
Rhizomelic Chondrodysplasia Punctata
Dry skin, Alopecia, Epicanthus, Sparse body hair ORPHA:177
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Generalized hypotrichosis, Sparse eyebrow, Palmoplantar keratoderma, Absent hair, Trichorrhexis n... ORPHA:1010
Sézary Syndrome
Alopecia, Palmoplantar keratoderma, Dry skin, Nail dystrophy, Erythroderma, Ectropion, Pruritus ORPHA:3162
Porokeratosis 3, Multiple Types
Parakeratosis, Nail dystrophy, Porokeratosis OMIM:175900
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Alopecia, Short palpebral fissure, Eczematoid dermatitis, Downslanted palp... ORPHA:3051
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Epidermal acanthosis, Hyperkeratosis OMIM:613943
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular hyperkeratosis, Slow-growing ... ORPHA:573
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Atypical scarring of skin, Alopecia totalis, Nail dystrophy, Lack of skin elasticity, Aplasia/Hyp... ORPHA:1366
Moynahan Syndrome
Alopecia, Hypogonadism, Short stature, Sparse hair, Hyperkeratosis ORPHA:2574
Schöpf-Schulz-Passarge Syndrome
Alopecia, Palmoplantar keratoderma, Facial telangiectasia, Ectodermal dysplasia, Aplasia/Hypoplas... ORPHA:50944
Adult Syndrome
Absent nipple, Fair hair, Eczematoid dermatitis, Breast hypoplasia, Dry skin, Alopecia of scalp, ... OMIM:103285
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosi... OMIM:173200
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Fingernail d... ORPHA:2251
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... OMIM:129500
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... ORPHA:324575
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Xerostomia, Eczematoid dermatitis, Breast aplasia, Trichorr... ORPHA:238468
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Palmoplantar scaling skin, Nail dystrophy, Sp... OMIM:605676
Ichthyosis Hystrix Of Curth-Macklin
Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyper... ORPHA:79503
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Sparse lateral eyebrow, Periorbital wrinkles, Sparse body hair, Dry skin, Sparse e... OMIM:614941
Centrifugal Lipodystrophy
Erythema, Alopecia, Scaling skin ORPHA:90156
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... ORPHA:1808
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Downslanted palpebral fissures, Prematurely aged a... ORPHA:1807
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Hair-nail ectodermal dysplasia, Dystro... OMIM:614929
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Ichthyosis, Follicular hyperkeratosis, Brittle hair, Congenital nonbullous ic... OMIM:618546
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Ectodermal Dysplasia 9, Hair/Nail Type
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... OMIM:614931
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Abnormal fingernail morphology, Diffuse palmoplantar hyperkeratosis, Palmoplanta... ORPHA:2199
Familial Melanoma
Abnormal hair morphology, Dry skin, Neoplasm of the pancreas ORPHA:618
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Nail dystrophy, Chronic rhinitis, Parakeratosis, Follicular hyperkerato... OMIM:615225
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Dry skin, Ichthyosis, Scaling skin, Hyperkeratosis, Congenital nonbullous ichthyosiform... OMIM:614457
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Cutaneous Mastocytoma
Erythema, Skin erosion, Erythematous papule, Hypermelanotic macule, Hyperpigmented papule, Macule... ORPHA:79455
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Folliculitis, Nail dystrophy, Sparse eyelashe... OMIM:612843
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Atrophoderma Vermiculata
Hyperkeratotic papule, Erythema, Abnormal epidermal morphology, Hypoplastic pilosebaceous units, ... ORPHA:79100
Congenital Disorder Of Glycosylation, Type Iq
Eczematoid dermatitis, Hypertrichosis, Dry skin, Ichthyosis, Cutis laxa, Dysphagia, Hyperkeratosis OMIM:612379
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmar hyperhidrosis, Palmoplantar hyperk... ORPHA:38
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Albinism, Photophobia, Visual impairment OMIM:300650
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Adult Syndrome
Alopecia, Toenail dysplasia, Absent nipple, Skin ulcer, Fine hair, Breast hypoplasia, Fingernail ... ORPHA:978
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism, Oligomenorrhea, Infertility, Acne OMIM:604931
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Porphyria Cutanea Tarda
Alopecia, Facial hypertrichosis, Onycholysis, Fragile skin, Cutaneous photosensitivity OMIM:176100
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Abnormal epidermal morphology, Inflammatory abnormality of the skin, Crust... ORPHA:79147
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin OMIM:617920
Oliver-Mcfarlane Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Long eyelashes, Cryptorchidism, ... OMIM:275400
Prolidase Deficiency
Erythema, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail morphology, Dry skin, White f... ORPHA:742
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Congenital ichthyosiform erythroderma, Sparse body hair, Pruritus, Curly eyelashe... OMIM:602400
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Reduced epidermal extracellular matrix protein 1 protein expression, Aggressive b... OMIM:247100
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelas... ORPHA:1818
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Abnormal testis morphology, Apla... ORPHA:202
Complex Regional Pain Syndrome
Erythema, Slow-growing nails, Abnormality of hair growth, Dry skin ORPHA:83452
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Yellow nails, Palmoplantar keratoderma, Hypergranulosis, Nail dystrophy, Onycholysis, Orthokerato... OMIM:148700
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Abnormal epidermal morphology, Palmoplantar keratoderma, Orthokeratosis, H... ORPHA:79501
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Hyperinsulinemia ORPHA:329249
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor, Ichthyosis OMIM:603165
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Alopecia, Skin ulcer, Abnormal fingernail morphology, Palmoplantar hyperhidrosis, Skin ... ORPHA:659
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Amelo-Onycho-Hypohidrotic Syndrome
Fine hair, Abnormal fingernail morphology, Dry skin, Hypoplastic toenails, Onycholysis, Hypohidro... ORPHA:1028
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Hypogonadism, Decreased response to growth hormone stimulation test, Long eyelashes, Cr... ORPHA:3363
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair, Cutaneous photosensitivity OMIM:234030
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Excessive skin wrinkl... ORPHA:498359
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Absent toenail, Abnormal toenail... ORPHA:89838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Palmoplantar keratoderma OMIM:610476
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Nail pits, Ridged nail, Nail dystrophy OMIM:601705
Rapp-Hodgkin Syndrome
Sparse hair, Sparse eyebrow, Thin skin, Palmoplantar keratoderma, Small nail, Decreased number of... OMIM:129400
Pseudopelade Of Brocq
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Recurrent skin infections,... ORPHA:129
Buerger Disease
Hyperhidrosis, Skin ulcer ORPHA:36258
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Alopecia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocutaneous cand... OMIM:618282
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair, Thin skin ORPHA:2985
Oculocutaneous Albinism, Type Viii
Photophobia, Hypopigmentation of hair, Reduced visual acuity OMIM:619165
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Coarse hair, Downslanted palpebral fissures, Ichthyosis, Sparse eyelashes, Hydron... ORPHA:35173
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Abnormal hair whorl, Horseshoe kidney, Dry skin, Nail dystrophy, Almond-... OMIM:300860
14Q11.2 Microduplication Syndrome
Highly arched eyebrow, Epicanthus, Attention deficit hyperactivity disorder, Polyphagia, Aggressi... ORPHA:261229
Acrodermatitis Enteropathica
Erythema, Alopecia, Ridged fingernail, Blepharitis, Skin ulcer, Generalized abnormality of skin, ... ORPHA:37
Acrokeratosis Verruciformis
Ridged nail, Acrokeratosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Acantholy... OMIM:101900
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Elastoderma
Eczematoid dermatitis, Cutis laxa, Erysipelas, Premature skin wrinkling ORPHA:228240
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Noonan Syndrome 5
Webbed neck, Sparse eyebrow, Small nail, Fine hair, Downslanted palpebral fissures, Dry skin, Cry... OMIM:611553
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... ORPHA:1433
Kid Syndrome
Trichilemmoma, Posterior blepharitis, Aplastic/hypoplastic lacrimal glands, Psoriasiform dermatit... ORPHA:477
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Progeroid Syndrome, Petty Type
Abnormal hair morphology, Prematurely aged appearance, Thick eyebrow, Long eyelashes in irregular... ORPHA:2963
Infantile Digital Fibromatosis
Parakeratosis, Epidermal acanthosis, Hyperkeratosis ORPHA:199267
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent nipple, Absent hair, Dry skin, Brittle hair, Sparse hair, Hypohidrotic ectodermal dysplasia OMIM:614940
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Purpura, Skin ulcer, Thin skin ORPHA:743
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Nail dystrophy, Epicanthus, Sparse hair OMIM:619692
Erythrokeratodermia Variabilis Et Progressiva 2
Skin plaque, Erythema, Hypertrichosis OMIM:617524
Albinism, Oculocutaneous, Type V
Albinism, Photophobia OMIM:615312
Distal Duplication 6P
Fine hair, Dry skin, Ptosis, Blepharophimosis, Abnormal hair quantity, Abnormal eyelash morphology ORPHA:1745
Trichothiodystrophy 6, Nonphotosensitive
Dry skin, Tiger tail banding, Slow-growing hair, Brittle hair, Cutaneous photosensitivity OMIM:616943
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyebrow, Increased circulating free fatty acid level, Inflammatory abnormality o... OMIM:610768
Obesity Due To Sim1 Deficiency
Polyphagia, Attention deficit hyperactivity disorder, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Xerostomia, Dry skin, Ichthyosis, Parakeratosis, Acanthosis nigricans, Neurogenic bladder, Epider... OMIM:618527
Palmoplantar Keratoderma, Punctate Type Ia
Epidermal acanthosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Alopecia, Unilateral renal agenesis, Orthokeratosis, Congenital ichthyosiform erythrode... OMIM:308050
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Decreased growth ho... OMIM:609734
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly... OMIM:616099
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Sjogren-Larsson Syndrome
Color vision defect, Abnormal hair morphology, Ichthyosis, Reduced visual acuity, Short stature, ... OMIM:270200
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Mal De Meleda
Erythema, Palmoplantar keratoderma, Ichthyosis, Epidermal acanthosis, Nonepidermolytic palmoplant... ORPHA:87503
Hypotrichosis 9
Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc... OMIM:614237
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Alopecia universalis, Recurrent viral infections, Severe varicella zoster infection, Patchy alope... OMIM:606367
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sparse eye... OMIM:602540
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Skin vesicle, Erythema migrans ORPHA:158681
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Leukonychia, Nail dystrophy, Anonychia, Punctate palmoplantar hyperkeratosis, Ep... ORPHA:79151
Congenital Lethal Erythroderma
Dry skin, Ichthyosis ORPHA:1954
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Tooth Agenesis, Selective, 4
Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Dry skin, Dystrophic fin... OMIM:150400
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Hidrotic Ectodermal Dysplasia, Halal Type
Irregular menstruation, Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, A... ORPHA:1809
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
White Sponge Nevus 2
Epidermal acanthosis, Edema, Hyperparakeratosis OMIM:615785
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Hypoplastic lacrimal duct, Upslanted palpebral fissure, Cryptorchidism, Absent lacrimal punctum, ... OMIM:273390
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema, Alopecia, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Small nail, ... OMIM:242100
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Alopecia, Palmar telangiectasia, Absent eyelashes, Absent eyebro... OMIM:607823
Omenn Syndrome
Thyroiditis, Thickened skin, Alopecia, Pneumonia, Dry skin, Erythroderma, Aplasia/Hypoplasia of t... ORPHA:39041
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Skin ulcer ORPHA:139578
Basan Syndrome
Milia, Nail dystrophy, Epidermal acanthosis, Hypermelanotic macule, Palmoplantar hypohidrosis OMIM:129200
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin OMIM:612952
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Eczematoid dermatitis, Downslanted palpebral fissures, Dry skin, Long eyelashes, Elbow hypertrich... OMIM:620191
Mhc Class I Deficiency 1
Bronchiolitis, Skin ulcer, Recurrent bronchitis OMIM:604571
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Trichothiodystrophy 1, Photosensitive
Small nail, Fine hair, Trichorrhexis nodosa, Dry skin, Tiger tail banding, Nail dystrophy, Tricho... OMIM:601675
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Abnormal toenail morphology, Hypogon... ORPHA:494
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Low anterior hairline, Absent eyelashes, Distichiasis, Sparse hair ORPHA:79133
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transient neonatal diabete... ORPHA:99886
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Microphthalmia, Syndromic 8
Short palpebral fissure, Cryptorchidism, Blepharophimosis, Premature skin wrinkling OMIM:601349
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Aggressive behav... OMIM:614963
Prolonged Electroretinal Response Suppression 2
Photophobia, Reduced visual acuity, Difficulty adjusting to changes in luminance, Mildly reduced ... OMIM:620344
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Blindness, Pili torti, Brittle hair, Short stature, Hyperkeratosis, Sparse scalp hair ORPHA:1573
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Adiposis Dolorosa
Sparse pubic hair, Bruising susceptibility, Dry skin, Sparse axillary hair, Telangiectasia of the... ORPHA:36397
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Dry skin, Sparse or absent eyelashes, Cr... ORPHA:217346
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus OMIM:222100
Reticular Dysgenesis
Recurrent respiratory infections, Sepsis, Skin ulcer ORPHA:33355
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive... ORPHA:276556
Blue Cone Monochromacy
Visual impairment, Reduced visual acuity, Myopia, Blue cone monochromacy, Photophobia OMIM:303700
Sjögren-Larsson Syndrome
Erythema, Hyperkeratosis, Ichthyosis, Dry skin ORPHA:816
Flynn-Aird Syndrome
Dermal atrophy, Alopecia, Primary adrenal insufficiency, Skin ulcer ORPHA:2047
Pemphigus Foliaceus
Erythema, Skin erosion, Erythematous plaque, Skin vesicle, Scaling skin, Acantholysis, Serpiginou... ORPHA:79481
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Familial Keratoacanthoma
Subcutaneous nodule, Papule, Skin ulcer, Adenoma sebaceum ORPHA:493
Bachmann-Bupp Syndrome
Small nail, Downslanted palpebral fissures, Dry skin, Cryptorchidism, Sparse eyelashes, Ptosis, A... OMIM:619075
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Dry skin OMIM:218650
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Thick eyebrow, Upslanted palpebral fissure, Almond-shaped palpebral fis... ORPHA:171829
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia OMIM:618406
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis ORPHA:735
Short Stature Due To Ghsr Deficiency
Abnormality of body weight, Hypoglycemia, Decreased body weight ORPHA:314811
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... OMIM:611521
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Dry skin, Sparse hair, Polycystic ovaries OMIM:268020
Congenital Ichthyosiform Erythroderma
Alopecia, Palmoplantar keratoderma, Erythroderma, Ectropion, Pruritus, Abnormality of the nail ORPHA:79394
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp, Hyperkeratosis OMIM:136300
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Self-injurious behavior, Parakeratosis, Hyperkeratosis, Agitation OMIM:618339
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer, Fine hair, Abnormal fingernail morphology, Hypohidrosis, Recurrent respiratory infect... ORPHA:1806
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Highly arched eyebrow, Cryptorchidism, Generalized hirsutism, Polyphagia... ORPHA:228402
Immunodeficiency 51
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu... OMIM:613953
Tritanopia
Color vision test abnormality, Reduced visual acuity, Photophobia, Tritanomaly ORPHA:88629
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Eczematoid dermatitis, Sparse body hair, Abnormal fingernail morphology, Sparse hair, Thin skin ORPHA:1810
Ectodermal Dysplasia-Syndactyly Syndrome 2
Follicular hyperkeratosis, Palmoplantar keratoderma, Sparse hair, Ectodermal dysplasia OMIM:613576
Cone Dystrophy 4
Photophobia, Reduced visual acuity, Visual impairment, Dyschromatopsia OMIM:613093
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Onycholysis, Increased circula... OMIM:275000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Nail dystrophy, Palmar hyperkeratosis, Plantar hyperkeratosis, Pruritus, Hyperkeratosis ORPHA:79399
Corneal Dystrophy, Gelatinous Drop-Like
Photophobia, Reduced visual acuity, Visual impairment, Blurred vision OMIM:204870
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Recon Progeroid Syndrome
Progeroid facial appearance, Dry skin, Hyperconvex thumb nails, Hirsutism, Livedo reticularis, Ke... OMIM:620370
Jung Syndrome
Low posterior hairline, Dry skin, Telecanthus ORPHA:2321
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to... ORPHA:2325
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Dystrophic toenail, Decreased number of sweat glands, Dry skin, Fragile... ORPHA:69087
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Macular Dystrophy, Vitelliform, 3
Color vision defect, Metamorphopsia, Reduced visual acuity, Photophobia, Visual impairment OMIM:608161
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Amaurosis-Hypertrichosis Syndrome
Coarse hair, Visual impairment, Thick eyebrow, Abnormal eyelash morphology, High hypermetropia, P... ORPHA:1021
Hypotonia-Cystinuria Syndrome
Epicanthus, Polyphagia, Ptosis ORPHA:163690
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Recurrent bacterial infections OMIM:607624
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Isolated Agammaglobulinemia
Sepsis, Skin ulcer, Meningitis, Recurrent respiratory infections, Recurrent cutaneous abscess for... ORPHA:229717
Prolonged Electroretinal Response Suppression 1
Color vision defect, Bradyopsia, Difficulty adjusting to changes in luminance, Photophobia OMIM:608415
Cone-Rod Dystrophy 13
Color vision defect, Reduced visual acuity, Visual impairment, Photophobia OMIM:608194
Hatipoglu Immunodeficiency Syndrome
Thickened skin, Atopic dermatitis, Fair hair, Eczematoid dermatitis, Premature graying of hair, D... OMIM:620331
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Polyphagia, Decreased serum leptin OMIM:614962
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Compulsive behaviors, Fine hair, Fragile nails ORPHA:500166
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia OMIM:610947
Calciphylaxis
Secondary hyperparathyroidism, Sepsis, Skin ulcer ORPHA:280062
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Sparse body hair ORPHA:85274
Chronic Mucocutaneous Candidiasis
Erythema, Skin ulcer, Recurrent respiratory infections, Recurrent urinary tract infections, Abnor... ORPHA:1334
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Nail dysplasia OMIM:615704
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Cryptorchidism, Fine hair ORPHA:1174
Cone-Rod Synaptic Disorder, Congenital Nonprogressive
Color vision defect, Visual impairment, Photophobia, Congenital stationary night blindness OMIM:610427
Noonan Syndrome 13
Highly arched eyebrow, Webbed neck, Bruising susceptibility, Hypertrichosis, Downslanted palpebra... OMIM:619087
Ectodermal Dysplasia-Skin Fragility Syndrome
Alopecia universalis, Cheilitis, Recurrent pneumonia, Palmoplantar keratoderma, Chapped lip, Recu... ORPHA:158668
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin ORPHA:1184
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Reduced visual acuity, Nyctalopia, Myopia, Visual impairment, Photophobia OMIM:304020
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Achromatopsia
Color vision defect, Central scotoma, Reduced visual acuity, Monochromacy, Myopia, Hypermetropia,... ORPHA:49382
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Color vision defect, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia OMIM:616732
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosifor... ORPHA:312
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Skin ulcer, Recurrent gram-negative bacterial infections, Recu... OMIM:116920
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse eyebrow, Absent nipple, Eczematoid dermatitis, Fine hair, Sparse body hair, Periorbital wr... OMIM:305100
Geroderma Osteodysplasticum
Progeroid facial appearance, Premature skin wrinkling, Abnormal hair morphology, Downslanted palp... OMIM:231070
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness, Phonophobia OMIM:609634
Radio-Tartaglia Syndrome
Small nail, Dry skin, Epicanthus, Narrow palpebral fissure, Long eyebrows, Dysphagia, Motor stere... OMIM:619312
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration, Episodic hyperhidrosis OMIM:613115
Optic Atrophy 12
Abnormal Ishihara plate test, Photophobia, Reduced visual acuity, Dyschromatopsia OMIM:618977
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Sparse eyebrow, Eczematoid dermatitis, Trichorrhexis nodosa, Cutis laxa, Woolly hair OMIM:619691
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Cone-Rod Dystrophy 24
Color vision defect, Scotoma, Reduced visual acuity, Pericentral scotoma, Nyctalopia, Myopia, Pho... OMIM:620342
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Dry skin, Nail dystrophy OMIM:620502
Craniofaciofrontodigital Syndrome
Lower eyelid edema, Hypertrichosis, Premature skin wrinkling, Low anterior hairline, Palmoplantar... ORPHA:363705
Porphyria Cutanea Tarda
Cutaneous abscess, Hypertrichosis, Increased urinary porphobilinogen, Stage 5 chronic kidney dise... ORPHA:101330
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Palmoplantar keratoderma, Abnormal fingernail morphology, Focal frictio... ORPHA:2200
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Erythematous plaque, Erythematous papule, Skin ulcer ORPHA:86884
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
X-Linked Agammaglobulinemia
Alopecia, Sepsis, Recurrent pneumonia, Hypopigmented skin patches, Skin ulcer, Meningitis, Recurr... ORPHA:47
Dermatoleukodystrophy
Progeroid facial appearance, Premature skin wrinkling OMIM:221790
Arthrogryposis And Ectodermal Dysplasia
Trichiasis, Dry skin, Nail dysplasia, Trichodysplasia, Ectodermal dysplasia, Absent eyebrow, Blep... OMIM:601701
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent can... ORPHA:169154
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Optic Atrophy 15
Photophobia, Reduced visual acuity, Central scotoma, Dyschromatopsia OMIM:620583
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Ptosis, Hypopigmentation of hair ORPHA:1067
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Disabling Pansclerotic Morphea Of Childhood
Recurrent infections, Skin ulcer OMIM:620443
Myoclonic-Astatic Epilepsy
Frontal balding, Premature skin wrinkling ORPHA:1942
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Naxos Disease
Palmoplantar keratoderma, Acanthosis nigricans, Hyperhidrosis, Curly hair, Abnormality of hair te... ORPHA:34217
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Alopecia of scalp, Epidermal acanthosis, Follicular hyperkeratosis, Erythroder... OMIM:608649
Woolly Hair, Autosomal Dominant
Dry hair, Coarse hair, Abnormal eyebrow morphology, Palmoplantar hyperkeratosis, Slow-growing hai... OMIM:194300
Carvajal Syndrome
Patchy palmoplantar hyperkeratosis, Woolly hair ORPHA:65282
Heyn-Sproul-Jackson Syndrome
Epicanthus, Sparse hair OMIM:618724
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... ORPHA:113
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Fine hair, Supernumerary nipple, Downslanted palpebral fissures, Dry skin, Cryptorchidism, Epican... ORPHA:1812
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Generalized ichthyosis,... OMIM:615024
Achromatopsia 7
Photophobia, Reduced visual acuity, Achromatopsia, Central scotoma OMIM:616517
Darier Disease
Thickened skin, Palmoplantar keratoderma, Abnormal hair morphology, Subungual hyperkeratotic frag... ORPHA:218
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Hypopigmentation of hair, Hypogonadotropic hypogonadism ORPHA:177910
Prolidase Deficiency
Recurrent pneumonia, Skin ulcer, Facial hirsutism, Petechiae, Low posterior hairline, Recurrent i... OMIM:170100
Achromatopsia 4
Photophobia, Achromatopsia, Visual impairment OMIM:613856
Chilblain Lupus
Erythematous papule, Skin ulcer ORPHA:90280
Cone-Rod Dystrophy 5
Photophobia, Color vision defect, Reduced visual acuity, Central scotoma OMIM:600977
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Palmoplantar keratoderma, Ichthyosis, Erythroderma, Short stature, Myopia, Sparse hair,... OMIM:242150
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Agel Amyloidosis
Bruising susceptibility, Bilateral ptosis, Dry skin, Dermatological manifestations of systemic di... ORPHA:85448
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Dry skin, Cryptorchidism, Hirsutism, Low anterior hairline, Broad eyebrow,... OMIM:619244
Joubert Syndrome 10
Downslanted palpebral fissures, Frequent temper tantrums, Hirsutism, Epicanthus, Polyphagia OMIM:300804
Cardiofaciocutaneous Syndrome
Dry skin, Cryptorchidism, Excessive wrinkled skin, Low posterior hairline, Epicanthus, Brittle ha... ORPHA:1340
Leber Congenital Amaurosis 16
Visual field defect, Reduced visual acuity, Nyctalopia, Photophobia, Visual impairment OMIM:614186
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development
Ectropion, Alopecia OMIM:242510
Alopecia Universalis
Alopecia universalis, Atopic dermatitis, Psoriasiform dermatitis, Absent eyelashes, Patchy alopec... ORPHA:701
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Palmar telangiectasia, Sparse body hair, Cutis marmorata, Absent eyelashes, Absent eyeb... ORPHA:69735
Tangier Disease
Dry skin, Nail dystrophy, Nail dysplasia, Cicatricial ectropion, Ectropion OMIM:205400
Oculocutaneous Albinism Type 1
Thickened skin, Generalized hypopigmentation of hair, Reduced visual acuity, Amblyopia, White eye... ORPHA:352731
Congenital Disorder Of Glycosylation, Type If
Dry skin, Renal cortical cysts, Erythroderma, Scaling skin, Hyperkeratosis OMIM:609180
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse eyebrow, Short palpebral fissure, Dry skin, Cryptorchidism, Reduced subcutaneous adipose t... OMIM:613026
Woolly Hair-Skin Fragility Syndrome
Acantholysis, Woolly hair, Palmoplantar keratoderma OMIM:620415
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Hypoglycemia OMIM:262400
Barber-Say Syndrome
Sparse eyebrow, Absent nipple, Hypertrichosis, Premature skin wrinkling, Dry skin, Telecanthus, R... OMIM:209885
Cone Dystrophy 3
Photophobia, Reduced visual acuity, Progressive visual loss OMIM:602093
Noonan Syndrome 14
Webbed neck, Sparse eyebrow, Bruising susceptibility, Downslanted palpebral fissures, Dry skin, C... OMIM:619745
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Gand Syndrome
Sparse hair, Blepharophimosis, Narrow palpebral fissure OMIM:615074
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Riddle Syndrome
Dry skin OMIM:611943
Cebalid Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Thick eyebrow, Congenital diaphragmatic he... OMIM:618774
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Alopecia, Telecanthus OMIM:203550
Albinism, Oculocutaneous, Type Vii
Albinism, Photophobia, Reduced visual acuity, High hypermetropia OMIM:615179
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Trisomy 18P
Highly arched eyebrow, Bilateral cryptorchidism, Telecanthus, Upslanted palpebral fissure, Polyph... ORPHA:1715
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Schaaf-Yang Syndrome
Short palpebral fissure, Hypogonadism, Thick eyebrow, Cryptorchidism, Skin-picking, Polyphagia, C... OMIM:615547
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Facial telangiectasia in butterfly midface distribution, Alopecia, Palpebral edema, Reduced subcu... OMIM:137940
Neonatal Inflammatory Skin And Bowel Disease
Erythema, Horizontal eyebrow, Chronic monilial nail infection, Recurrent gastroenteritis, Scaling... ORPHA:294023
Hydroa Vacciniforme
Papulovesicular eruption, Eczematoid dermatitis, Malar rash, Superficial dermal perivascular infl... ORPHA:330058
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Long penis, Hypertrichosis, Dry skin, Acanthosis nigricans, Onychauxis OMIM:262190
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent infections, Recurrent pneumonia, Pyoderma gangrenosum, Chronic oral candidiasis OMIM:150550
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Prolactinoma
Decreased fertility in females, Elevated circulating growth hormone concentration, Hemianopia, Fe... ORPHA:2965
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Long eyelashes, Polyphagia, Ptosis, Neonat... OMIM:606407
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Reduced visual acuity, Central scotoma, Nyctalopia OMIM:616079
Chromomycosis
Hyperkeratotic papule, Predominantly lower limb lymphedema, Keratitis, Hyperparakeratosis, Lymphe... ORPHA:182
Acute Generalized Exanthematous Pustulosis
Facial edema, Cheilitis, Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Pustu... ORPHA:293173
Dermatoosteolysis, Kirghizian Type
Dystrophic toenail, Skin ulcer, Aplasia/Hypoplasia of the skin, Dystrophic fingernails, Abnormali... ORPHA:1657
Lipase Deficiency, Combined
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Palmoplantar Keratoderma, Epidermolytic, 2
Palmoplantar hyperkeratosis, Curly hair OMIM:620411
Cone-Rod Dystrophy 17
Photophobia, Visual impairment, Central scotoma OMIM:615163
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hypopigmentation of hair, Inappropriate laughter, Hyperactivity ORPHA:411515
Hereditary Mucoepithelial Dysplasia
Alopecia, Fine hair, Photophobia, Sparse hair, Hyperkeratosis ORPHA:1839
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia ORPHA:79402
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Leber Congenital Amaurosis 1
Blindness, Eye poking, Reduced visual acuity, Nyctalopia, Photophobia, Growth delay OMIM:204000
Nephronophthisis-Like Nephropathy 2
Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilata... OMIM:619468
Cone Rod Dystrophy
Color vision defect, Visual impairment, Photophobia, Nyctalopia ORPHA:1872
Limited Cutaneous Systemic Sclerosis
Skin ulcer, Hypopigmented skin patches ORPHA:220402
Progressive Cone Dystrophy
Color vision defect, Visual impairment, Photophobia ORPHA:1871
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Cardiofaciocutaneous Syndrome 2
Fine hair, Ptosis, Absent eyebrow, Curly hair, Sparse hair OMIM:615278
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Skin ulcer, Recurrent respiratory infections, Abnormal hair morphology, Dystrophic fingernails, S... ORPHA:2314
Cutis Laxa, Autosomal Recessive, Type Iiib
Fine hair, Cryptorchidism, Excessive wrinkled skin, Cutis laxa, Prominent superficial veins, Narr... OMIM:614438
Ramos-Arroyo Syndrome
Abnormal hair morphology, Broad eyebrow, Reduced visual acuity, Short stature, Visual impairment OMIM:122430
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections OMIM:608957
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decre... ORPHA:453533
Macular Dystrophy, Patterned, 1
Metamorphopsia, Reduced visual acuity, Photophobia, Nyctalopia OMIM:169150