Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
glycerol kinase 5
Synonyms:
C330018K18Rik,  G630067D24Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Gk5 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 Gk5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Central Centrifugal Cicatricial Alopecia
Scarring alopecia of scalp OMIM:618352
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis ORPHA:169095
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Ridged nail, Nail dystrophy, Decreased helper T cell proportion, T lymphocytopenia, Nai... OMIM:601705
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp ORPHA:79129
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
L-Ferritin Deficiency
Alopecia OMIM:615604
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Hypertrichosis, Congenital Generalized, 2
Hirsutism, Congenital, generalized hypertrichosis OMIM:307150
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy
Hypertrichosis OMIM:620470
Candidiasis, Familial, 1
Alopecia OMIM:114580
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogryposis OMIM:617756
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Palmoplantar Keratoderma, Nagashima Type
Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergran... OMIM:615598
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... OMIM:117850
Hidrotic Ectodermal Dysplasia
Thickened skin, Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, ... ORPHA:189
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Alopecia of scalp, Follicular hyperkeratosis, Anonychia, Hyperkeratosis ORPHA:69125
Kerion Celsi
Alopecia, Recurrent cutaneous abscess formation ORPHA:499
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Epidermolytic Palmoplantar Keratoderma
Interphalangeal joint contracture of finger, Hypergranulosis, Abnormal fingernail morphology, Dif... ORPHA:2199
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair ORPHA:1008
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Hyperkeratosis ORPHA:2297
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis OMIM:617574
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp ORPHA:346
Pseudopelade Of Brocq
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S... ORPHA:129
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... ORPHA:248
Parana Hard Skin Syndrome
Generalized hirsutism, Thickened skin, Hyperkeratosis ORPHA:2812
Epidermolysis Bullosa, Junctional 5A, Intermediate
Alopecia of scalp, Nail dystrophy, Onychogryposis, Absent pubic hair, Absent axillary hair, Onych... OMIM:619816
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Palmoplantar keratoderma, Abnormal fingernail morphology, Focal frictio... ORPHA:2200
Ichthyosis Hystrix Of Curth-Macklin
Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratosis ORPHA:79503
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Follicular hyperkeratosis, Hyperhidrosis, Enamel hypoplasia, Sparse hai... OMIM:613576
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Yellow nails, Palmoplantar keratoderma, Hypergranulosis, Nail dystrophy, Onycholysis, Orthokerato... OMIM:148700
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa... OMIM:614594
Palmoplantar Keratoderma And Congenital Alopecia 2
Camptodactyly of finger, Alopecia totalis, Nail dystrophy, Nail dysplasia, Palmoplantar hyperkera... OMIM:212360
Bathing Suit Ichthyosis
Thickened skin, Alopecia, Nail dystrophy, Multiple joint contractures, Ichthyosis, Parakeratosis,... ORPHA:100976
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Dystrophic toenail, Abnormal fingernail morphology, Atrophic scars, Ridged nail, Absent toenail, ... ORPHA:89838
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hyperg... ORPHA:79395
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Congenital ichthyosiform erythroderma, Sparse body hair, Curly eyelashes, Curly h... OMIM:602400
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development
Alopecia OMIM:242510
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Alopecia Totalis
Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonychia, Nail pits, Fragile nails ORPHA:700
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
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia, Nail dystrophy OMIM:618806
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair OMIM:104100
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Palmoplantar keratoderma, Small nail, Congenital ichthyosiform erythroderma, Hypergranu... OMIM:242100
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Hypotrichosis 14
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes OMIM:618275
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Palmar hyperhidrosis, Nail dystrophy, Patchy alopecia, Enamel hypoplasia... OMIM:226650
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... OMIM:129500
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to... ORPHA:2325
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Porphyria Cutanea Tarda
Alopecia, Onycholysis, Facial hypertrichosis OMIM:176100
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Patchy alopecia, Hyperkeratosis, Scarring OMIM:247100
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Alopecia, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Plantar h... ORPHA:79397
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis ORPHA:735
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair ORPHA:1882
Trichotillomania
Alopecia OMIM:613229
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Absent eyelashes, Hypothyroidism, Absent eyebrow, Thin nail, Sparse hair, Hyperke... OMIM:618625
Epidermolysis Bullosa Dystrophica, Pretibial
Atrophic scars, Hyperkeratosis, Nail dystrophy OMIM:131850
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sparse eye... OMIM:602540
Aquagenic Palmoplantar Keratoderma
Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Orthokeratotic hyperkeratosis ORPHA:498359
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs... ORPHA:2890
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Sparse hair ORPHA:2251
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Oliver-Mcfarlane Syndrome
Long eyelashes, Long eyebrows, Alopecia, Sparse hair OMIM:275400
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Congenital ichthyosiform erythroderma, Nail dystrophy, Ichthyosis, Nail dysplasia, Para... OMIM:242300
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Ichthyosis, Follicular hyperkeratosis, Brittle hair, Congenital nonbullous ic... OMIM:618546
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,... OMIM:604117
Schopf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nai... OMIM:224750
Ectodermal Dysplasia 9, Hair/Nail Type
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... OMIM:614931
Olmsted Syndrome 2
Alopecia universalis, Palmoplantar keratoderma, Perioral hyperkeratosis, Flexion contracture of d... OMIM:619208
Congenital Ichthyosiform Erythroderma
Alopecia, Palmoplantar keratoderma, Ichthyosis, Hypohidrosis, Abnormality of the nail ORPHA:79394
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Abnormal toenail morphology, Hyperke... ORPHA:494
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Honeycomb palmoplantar hyperkeratosis, Nail dystrophy, Ichthyosis, Linear arrays of macular hyper... OMIM:601952
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Systemic Lupus Erythematosus 17
Alopecia, Lymphopenia, Leukopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyebrow, Sparse eyelashes, Nail dysplasia, Hypohidrosis, Joint contracture OMIM:615704
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Palmoplantar... OMIM:300918
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp, Hyperkeratosis OMIM:136300
Recessive X-Linked Ichthyosis
Hypohidrosis, Hyperkeratosis, Ichthyosis ORPHA:461
Woolly Hair, Autosomal Dominant
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... OMIM:194300
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis ORPHA:79399
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decrease... ORPHA:169154
Pachyonychia Congenita
Onychogryposis of fingernail, Alopecia, Palmoplantar keratoderma, Onychogryposis of toenails, Fin... ORPHA:2309
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Alopecia, Increased subcutaneous truncal adipose tis... ORPHA:2457
Idiopathic Trachyonychia
Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy alopecia, Circumungu... ORPHA:79153
Erythrokeratodermia Variabilis
Alopecia, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Generalized hirsutism, Hy... ORPHA:317
Cole Disease
Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Abnormal hair m... OMIM:615522
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair ORPHA:2985
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Schöpf-Schulz-Passarge Syndrome
Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Alopecia, Sparse hair ORPHA:3363
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Orthokeratosis, Sparse lateral eyebrow, Trichorrhexis nodosa, Nail dyst... OMIM:617337
Amelo-Onycho-Hypohidrotic Syndrome
Fine hair, Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenail... ORPHA:1028
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Generalized ichthyosis,... OMIM:615024
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Hypotrichosis 6
Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, Sparse hair OMIM:607903
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Ichthyosis, Congenital, Autosomal Recessive 3
Palmoplantar keratoderma, Ichthyosis, Hypohidrosis, Anhidrosis, Hyperkeratosis, Congenital nonbul... OMIM:606545
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse body hair, Ichthyosis, Aplasia/Hypoplasia of the eyebrow, Flexion contracture, S... ORPHA:2850
Onychotrichodysplasia And Neutropenia
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, L... OMIM:258360
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Palmoplantar keratoderma, Small nail, Nail dystrophy, Orthokeratotic hyperkeratosis, Palmoplantar... OMIM:610644
Hidrotic Ectodermal Dysplasia, Halal Type
Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnormal toenail morpholo... ORPHA:1809
Odontoonychodermal Dysplasia
Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Orthokerat... OMIM:257980
Hypotrichosis Simplex Of The Scalp
Sparse scalp hair, Fine hair, Alopecia of scalp, Parakeratosis, Hyperkeratosis, Slow-growing scal... ORPHA:90368
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Fibrodysplasia Ossificans Progressiva
Anemia, Alopecia ORPHA:337
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Palmoplantar keratoderma, Parakeratosis, Hypohidrosis, Generalized ichthyosis, Hy... OMIM:612281
Dystrophic Epidermolysis Bullosa Pruriginosa
Atrophic scars, Nail dystrophy, Abnormal toenail morphology, Scarring, Hyperkeratosis ORPHA:89843
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Alopecia of scalp, Absen... ORPHA:2269
Bazex Syndrome
Yellow nails, Palmoplantar keratoderma, Nail dystrophy, Parakeratosis, Acanthosis nigricans, Lipo... ORPHA:166113
Ichthyosis With Erythrokeratoderma
Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Leukonychia, Diffuse palmoplanta... OMIM:620507
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Thickened skin, Alopecia, Palmoplantar keratoderma, Abnormal fingernail morphology, Palmoplantar ... ORPHA:659
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hypergranulosis, Hypohidrosis, Hyperkeratosis, Congenital nonbullous ichthyosifor... OMIM:615023
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Pili torti, Brittle hair, Hyperkeratosis, Sparse scalp hair ORPHA:1573
Classic Mycosis Fungoides
Alopecia, Abnormality of the nail, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Alpha-Heavy Chain Disease
Anemia, Alopecia, Splenomegaly ORPHA:100025
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Leukonychia, Nail dystrophy, Anonychia, Punctate palmoplantar hyperkeratosis, Hy... ORPHA:79151
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Abnormality of the n... OMIM:607823
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Palm... OMIM:604536
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Ichthyosis, Parakeratosis, Woolly hair, Hy... OMIM:615821
Alopecia Universalis
Alopecia universalis, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of the nail ORPHA:701
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Trichiasis, Sparse eyebrow, Elbow flexion contracture, Corneal scarring, Nail dystrophy, Knee fle... OMIM:148210
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Hyperhidrosis, Curly hair OMIM:615279
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Nail dysplasia, Scarring alopecia of ... OMIM:612843
Ulerythema Ophryogenesis
Hyperkeratotic papule, Follicular hyperkeratosis, Sparse lateral eyebrow ORPHA:3406
Ichthyosis, Annular Epidermolytic, 1
Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Ichthyosis, Palmoplantar hyperkerat... OMIM:607602
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmar hyperhidrosis, Palmoplantar hyperk... ORPHA:38
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Camptodactyly of finger, Joint contracture of the 5th finger, Brittle hair, Sparse h... ORPHA:1883
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Splenomegaly, Hyp... ORPHA:2930
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Abnormal dental enam... ORPHA:3253
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Nail dystrophy, Hyperkeratosis OMIM:607936
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Abnormal dental enamel morphology, Ichthyosis, Abnormal toenail morphology, Hypohidrosi... ORPHA:1005
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Atypical scarring of skin, Palmoplantar keratoderma, Nail dystrophy ORPHA:1366
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:617571
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Sparse scalp hair ORPHA:69735
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Increased circulating free fatty acid level, Sparse eyebrow, Ichthyosis, Sparse eyelash... OMIM:610768
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Leukonychia, Hyperkeratosis OMIM:617525
Proteus Syndrome
Cerebriform connective tissue nevus, Lipoma, Multiple lipomas, Hyperkeratosis OMIM:176920
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Acquired Ichthyosis
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis ORPHA:454
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis OMIM:614564
Ramon Syndrome
Generalized hirsutism, Hyperkeratosis, Abnormal dental enamel morphology ORPHA:3019
Syndromic Recessive X-Linked Ichthyosis
Hypohidrosis, Hyperkeratosis, Ichthyosis ORPHA:281090
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased circulating cortisol level, Dorsocervical fat pad, Primary hypercortisolism, ... OMIM:615830
Bleeding Disorder, Platelet-Type, 21
Alopecia, Thrombocytopenia, Increased mean platelet volume OMIM:617443
Localized Junctional Epidermolysis Bullosa
Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystrophy, Sparse axillary... ORPHA:251393
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Follicular... OMIM:613102
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Alopecia OMIM:203550
Hereditary Mucoepithelial Dysplasia
Alopecia, Sparse hair, Hyperkeratosis, Fine hair ORPHA:1839
Ectodermal Dysplasia-Blindness Syndrome
Fine hair, Abnormal fingernail morphology, Hypohidrosis, Sparse hair, Hyperkeratosis ORPHA:1806
Porokeratosis 3, Multiple Types
Parakeratosis, Nail dystrophy, Porokeratosis OMIM:175900
Lichen Planopilaris
Abnormal fingernail morphology, Alopecia, Hyperkeratosis, Onycholysis ORPHA:525
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Xerostomia, Breast aplasia, Trichorrhexis nodosa, Aplasia/H... ORPHA:238468
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Abnormal hair pattern, Sparse hair ORPHA:3051
Atrophoderma Vermiculata
Hyperkeratotic papule, Atrophic scars, Follicular hyperkeratosis ORPHA:79100
Acrokeratosis Verruciformis
Ridged nail, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis OMIM:101900
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Generalized lipodystrophy, Decreased adipose tissue around neck, Hyperlipidemia, Loss o... OMIM:608612
Omenn Syndrome
Alopecia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Aplasia/Hypop... ORPHA:39041
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Flexion contracture, Ichthyosis OMIM:215100
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia... OMIM:304790
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyebrow, Orthokeratosis, Ichthyosis, Sparse eyelashes, Parakeratosis, Enamel hyp... OMIM:607626
Erythrokeratodermia Variabilis Et Progressiva 6
Abnormal hair morphology, Parakeratosis OMIM:618531
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Increased mean corpuscular volume, Aplastic anemia, Premature graying of hair, Lymphope... OMIM:127550
Omenn Syndrome
Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymph... OMIM:603554
Rapp-Hodgkin Syndrome
Sparse hair, Sparse eyebrow, Palmoplantar keratoderma, Small nail, Decreased number of sweat glan... OMIM:129400
Pachyonychia Congenita 3
Palmoplantar keratoderma, Onychogryposis of toenails, Nail dystrophy, Follicular hyperkeratosis, ... OMIM:615726
Arthrogryposis And Ectodermal Dysplasia
Trichiasis, Joint contracture of the hand, Atypical scarring of skin, Arthrogryposis multiplex co... OMIM:601701
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Atrichia, Nail dystrophy, Congenital abnormal hair pattern ORPHA:1867
Sézary Syndrome
Alopecia, Abnormal lymphocyte morphology, Nail dystrophy, Splenomegaly ORPHA:3162
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Corneal scarring, Frontal upsweep of hair, Broad eyebrow, Hypohidrosis, Hyperkeratosis OMIM:301220
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis OMIM:173200
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexio... OMIM:248370
Autoimmune Polyendocrinopathy Type 1
Alopecia, Increased circulating cortisol level, Abnormal fingernail morphology, Primary adrenal i... ORPHA:3453
Trichothiodystrophy 1, Photosensitive
Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Absence of subcutaneous fat, Nai... OMIM:601675
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Palmoplantar keratoderma, Nail dystrophy, Sparse eyelashes, Dystrophic fingernail... OMIM:308800
Ectodermal Dysplasia/Short Stature Syndrome
Palmoplantar keratoderma, Nail dystrophy, Enamel hypoplasia, Anonychia, Hyperkeratosis OMIM:616029
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Nail dystrophy, Sparse eyelashes, Palmoplanta... OMIM:605676
Tyrosinemia Type 2
Abnormality of the nail, Palmoplantar keratoderma, Hyperhidrosis, Hyperkeratosis ORPHA:28378
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Hernia, Atrophic scars, Follicular hyperkeratosis ORPHA:300179
Lymphatic Malformation 4
Cellulitis, Toenail dysplasia, Hyperkeratosis OMIM:615907
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Hyperkeratosis, Ichthyosis ORPHA:816
Johnson Neuroectodermal Syndrome
Alopecia, Absent eyelashes, Hypohidrosis, Absent eyebrow, Sparse hair ORPHA:2316
Autosomal Dominant Epidermolytic Ichthyosis
Ichthyosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Hyperkeratosis ORPHA:312
Hypomelanosis Of Ito
Alopecia OMIM:300337
Rhizomelic Chondrodysplasia Punctata
Alopecia, Ichthyosis, Sparse body hair ORPHA:177
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Infantile Digital Fibromatosis
Parakeratosis, Hyperkeratosis ORPHA:199267
Centrifugal Lipodystrophy
Alopecia, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lack of facial subcut... ORPHA:90156
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Limb joint contracture, Alopecia, Central adrenal insufficiency, Reduced subcutaneous adipose tissue OMIM:612079
Ichthyosis, Congenital, Autosomal Recessive 8
Ichthyosis, Orthokeratosis, Hyperkeratosis, Hypergranulosis OMIM:613943
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Sparse hair, Nail dystrophy OMIM:616353
Lipoid Proteinosis
Thickened skin, Scarring, Alopecia of scalp, Hyperkeratosis ORPHA:530
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Lamellar Ichthyosis
Ichthyosis, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Hyperkeratosis, Abnormality of the nail ORPHA:313
Leopard Syndrome 3
Low posterior hairline, Hyperkeratosis, Epidermal hyperkeratosis, Curly hair OMIM:613707
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Alopecia universalis, Hepatosplenomegaly, D... OMIM:606367
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Onychogryposis OMIM:167200
Incontinentia Pigmenti
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged... OMIM:308300
Pachyonychia Congenita 2
Subungual hyperkeratosis, Dry hair, Sparse eyebrow, Nail dystrophy, Nail dysplasia, Palmoplantar ... OMIM:167210
Adult Syndrome
Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, H... ORPHA:978
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Nail dystrophy, Brittle hair ORPHA:75389
Ichthyosis Prematurity Syndrome
Follicular hyperkeratosis, Generalized ichthyosis, Alopecia of scalp OMIM:608649
Naxos Disease
Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Nail dystro... OMIM:601214
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alopecia, Neutropenia OMIM:615387
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Anonychia, Absent fingernail, Alopecia totalis OMIM:609638
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Reduced subcutaneous adipose tissue, Sparse eyelashes, Absent eyelashes, Absent eyebrow... OMIM:137940
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy OMIM:618373
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Palmoplantar keratoderma, Ichthyosis, Sparse hair, Fragile nails OMIM:242150
Congenital Disorder Of Glycosylation, Type Iq
Hyperkeratosis, Ichthyosis, Hypertrichosis OMIM:612379
Donohue Syndrome
Hypertrichosis, Pancreatic islet-cell hyperplasia, Adipose tissue loss, Nail dysplasia, Acanthosi... OMIM:246200
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Sparse scalp hair ORPHA:2611
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Alopecia, Flexion contracture ORPHA:88630
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Eosinophilia, Cutaneous abscess, Sterile abscess OMIM:618282
Renpenning Syndrome
Thin eyebrow, Alopecia, Abnormal hairshaft morphology ORPHA:3242
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Aplastic anemia, Fine hair, Premature graying of hair, Pancytopenia, Leukopenia, Nail d... OMIM:613990
H Syndrome
Alopecia, Hypertrichosis, Abnormal eyebrow morphology, Ichthyosis, Scleroderma, Hernia, Lipodystr... ORPHA:168569
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Premature graying of hair, Scleroderma, Absent eyelashes, Absent eyebrow, H... ORPHA:363618
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Ichthyosis, Inguinal hernia, Joint contracture, Hyperkeratosis, Congenital nonbullous ichthyosifo... OMIM:614457
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Palmoplantar hyperkeratosis, Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma ORPHA:2698
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis OMIM:133200
Fucosidosis
Generalized hyperkeratosis, Hypothyroidism, Hyperhidrosis, Lipoatrophy, Abnormality of the nail ORPHA:349
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Costello Syndrome
Abnormal hair morphology, Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypo... ORPHA:3071
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Pili torti, Fragile nails OMIM:261990
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Parakeratosis, Hyperkeratosis OMIM:618339
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Increased circulating cortisol level, Hyperaldosteronism, Dorsocervical fat pad, Hyperl... ORPHA:189427
Incontinentia Pigmenti
Alopecia, Ridged fingernail, Dystrophic toenail, Supernumerary nipple, Abnormal hair morphology, ... ORPHA:464
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Leukonychia, Onycholysis, Follicular hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acanth... OMIM:616295
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Mucoepithelial Dysplasia, Hereditary
Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Nail dysplasia, Eosinophi... OMIM:158310
X-Linked Agammaglobulinemia
Alopecia, Thrombocytopenia, Neutropenia, Anemia, Recurrent cutaneous abscess formation ORPHA:47
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Hyperlipidemia, Nail dystrophy ORPHA:90154
Cahmr Syndrome
Generalized hypertrichosis OMIM:211770
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Prolidase Deficiency
Palmoplantar keratoderma, Abnormal fingernail morphology, White forelock, Hirsutism, Generalized ... ORPHA:742
Adams-Oliver Syndrome 2
Alopecia, Small nail, Low anterior hairline OMIM:614219
Ichthyosis, Annular Epidermolytic, 2
Orthokeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Ichthyosis OMIM:620148
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Chilblain Lupus
Hyperkeratosis ORPHA:90280
Netherton Syndrome
Brittle scalp hair, Sparse eyebrow, Parakeratosis, Brittle hair, Congenital nonbullous ichthyosif... OMIM:256500
Holocarboxylase Synthetase Deficiency
Alopecia, Thrombocytopenia ORPHA:79242
Werner Syndrome
Lipoatrophy, Abnormal hair whorl, Chondrocalcinosis, Premature graying of hair, White forelock, P... ORPHA:902
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Follicular hyperkeratosis OMIM:615147
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Congenital Disorder Of Glycosylation, Type Iil
Hypohidrosis, Hyperkeratosis, Enamel hypoplasia OMIM:614576
Bresek Syndrome
Alopecia, Ichthyosis ORPHA:85284
Noonan Syndrome 8
Hyperkeratosis, Curly hair OMIM:615355
Flynn-Aird Syndrome
Alopecia, Primary adrenal insufficiency ORPHA:2047
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Xerostomia, Ichthyosis, Parakeratosis, Acanthosis nigricans, Hyperkeratosis OMIM:618527
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Variegate Porphyria, Childhood-Onset
Scarring, Epidermal hyperkeratosis OMIM:620483
Ane Syndrome
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormo... ORPHA:157954
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Breast aplasia, Abnormal eyebrow morphology, Hyperlipidemia, Absent eyelashes, Flexion ... ORPHA:90153
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Congenital nonbullous ichthyosiform erythroderma, Hypertriglyceridemia ORPHA:98907
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis OMIM:615225
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes OMIM:616367
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Alopecia, Small nail, Inguinal hernia, Ichthyosis, Absent eyelashes, Absent eyebrow ORPHA:166035
Adams-Oliver Syndrome
Alopecia, Hypoplastic fingernail, Leukopenia, Aplastic/hypoplastic toenail, Thrombocytopenia, Spa... ORPHA:974
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Alopecia OMIM:620651
Ectodermal Dysplasia-Skin Fragility Syndrome
Alopecia universalis, Palmoplantar keratoderma, Nail dystrophy, Scarring, Hypohidrosis, Follicula... ORPHA:158668
Kury-Isidor Syndrome
Alopecia, Hypertrichosis OMIM:619762
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Ichthyosis, Acantholysis, Sparse hair OMIM:615508
Psoriasis 2
Parakeratosis, Hyperkeratosis OMIM:602723
Monosomy 18P
Low posterior hairline, Alopecia, Hypothyroidism ORPHA:1598
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Nail dysplasia, Alopecia, Nail dystrophy OMIM:175500
Oculocutaneous Albinism Type 1A
Albinism, Thickened skin, Hypopigmentation of hair, Hyperkeratosis ORPHA:79431
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow, Fine hair, Epidermal hyperkeratosis OMIM:190351
Ullrich Congenital Muscular Dystrophy 1A
Flexion contracture, Follicular hyperkeratosis, Hyperhidrosis OMIM:254090
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Adrenal insufficiency, High anterior hairline, Hypohidrosis, Hyperkeratosis OMIM:615510
Harlequin Ichthyosis
Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma ORPHA:457
Poikiloderma With Neutropenia
Sparse eyebrow, Palmoplantar keratoderma, Sparse lateral eyebrow, Nail dystrophy, Low posterior h... OMIM:604173
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis, Joint contracture OMIM:617066
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Alopecia totalis, Abnormal lymphocyte morphology, Nail dystrophy, Abnormality of the pe... ORPHA:293978
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Lichen Planus Pemphigoides
Hyperkeratosis, Abnormality of the nail ORPHA:254478
Keutel Syndrome
Alopecia ORPHA:85202
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Cardiofaciocutaneous Syndrome 1
Ichthyosis, Absent eyelashes, Low posterior hairline, Absent eyebrow, Hyperhidrosis, Slow-growing... OMIM:115150
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple ORPHA:3224
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis OMIM:613736
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Hypothyroidism, Hyper... OMIM:269200
Eec Syndrome
Sparse eyebrow, Coarse hair, Xerostomia, Fine hair, Abnormal dental enamel morphology, Decreased ... ORPHA:1896
Pediatric Systemic Lupus Erythematosus
Alopecia, Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Thrombocytopenia ORPHA:93552
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Dyskeratosis Congenita
Alopecia, Palmoplantar keratoderma, White hair, Premature graying of hair, Abnormal fingernail mo... ORPHA:1775
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia universalis, Alopecia, Adrenal insufficiency, Primary adrenal insufficiency, Nail dystro... OMIM:240300
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Anemia, Nail dysplasia, Alopecia, Nail dystrophy OMIM:226600
Irida Syndrome
Hyperkeratosis, Ichthyosis ORPHA:209981
Lethal Acantholytic Erosive Disorder
Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyelashes, Camptodactyly of toe,... ORPHA:158687
Bartsocas-Papas Syndrome
Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toenails, Aplasia/Hypoplasia of the eye... ORPHA:1234
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... OMIM:604777
Cardiofaciocutaneous Syndrome
Palmoplantar keratoderma, Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashe... ORPHA:1340
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Palmoplantar keratoderma, Sparse body hair, Supernumerary nipple, Nail dystrophy, Sparse eyelashe... OMIM:106260
Hemochromatosis, Type 1
Alopecia, Splenomegaly OMIM:235200
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis ORPHA:79279
Short Syndrome
Alopecia, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy, Sparse hair ORPHA:3163
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test, Alopecia OMIM:601853
Macs Syndrome
Alopecia, Sparse eyebrow, Umbilical hernia, Ichthyosis, Sparse hair OMIM:613075
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans ORPHA:409
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, Alopecia, T lymphocytopenia, Low posterior hairline ORPHA:2959
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Alopecia, Sparse eyebrow, Small nail, Hypoplastic toenails, Sparse eyelashes, Absent eyelashes, A... ORPHA:544488
Frontonasal Dysplasia 2
Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Hypohidrosis, Sparse hair OMIM:613451
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Follicular hyperkeratosis, Multiple joint contractures ORPHA:486815
Kid Syndrome
Trichilemmoma, Sparse eyebrow, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, N... ORPHA:477
Satoyoshi Syndrome
Abnormal hair morphology, Alopecia universalis, Sparse or absent eyelashes ORPHA:3130
Vulvovaginal Gingival Syndrome
Parakeratosis, Ridged nail ORPHA:83453
Bone Marrow Failure Syndrome 3
Small nail, Exocrine pancreatic insufficiency, Nail dystrophy, Hernia, Amelogenesis imperfecta, E... OMIM:617052
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Hypothyroidism, Pancreatitis ORPHA:412057
Bethlem Muscular Dystrophy
Ankle flexion contracture, Cigarette-paper scars, Interphalangeal joint contracture of finger, Ca... ORPHA:610
Dowling-Degos Disease
Abnormal fingernail morphology, Hyperkeratotic papule, Hyperkeratosis ORPHA:79145
Chondrodysplasia Punctata, Autosomal Dominant
Hyperkeratosis with erythema, Coarse hair, Knee flexion contracture, Hip contracture, Sparse hair OMIM:118650
Sialidosis Type 1
Hernia, Hyperkeratosis ORPHA:812
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Orthokeratosis, Small nail, Congenital ichthyosiform erythroderma, Umbilical hernia, Pa... OMIM:308050
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Alopecia, Abnormal adipose tissue morphology ORPHA:93160
Lymphatic Malformation 12
Hyperkeratosis, Inguinal hernia OMIM:620014
Celiac Disease, Susceptibility To, 1
Steatorrhea, Alopecia, Enamel hypoplasia, Thyroiditis OMIM:212750
Chromomycosis
Hyperkeratotic papule, Atypical scarring of skin, Hyperkeratosis, Hyperparakeratosis ORPHA:182
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Acrodermatitis Enteropathica
Alopecia, Ridged fingernail, Abnormal eyebrow morphology, Ridged nail, Abnormality of the nail, P... ORPHA:37
Premature Aging Syndrome, Penttinen Type
Thickened skin, Keloids, Flexion contracture of finger, Palmoplantar hyperkeratosis, Joint contra... OMIM:601812
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Patchy alopecia ORPHA:85279
Dyskeratosis Congenita, Digenic
Anemia, Alopecia, Nail dystrophy, Sparse eyelashes OMIM:620040
Mogs-Cdg
Alopecia, Fair hair, Hepatosplenomegaly, Long eyelashes, Hirsutism, Thrombocytopenia ORPHA:79330
Milroy Disease
Cellulitis, Toenail dysplasia, Hyperkeratosis ORPHA:79452
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis ORPHA:36386
Adrenoleukodystrophy
Alopecia, Primary adrenal insufficiency OMIM:300100
Holocarboxylase Synthetase Deficiency
Alopecia, Thrombocytopenia OMIM:253270
Mixed Connective Tissue Disease
Alopecia, Leukopenia, Hemolytic anemia, Splenomegaly ORPHA:809
Systemic Sclerosis
Thickened skin, Alopecia, Hypohidrosis, Nail bed telangiectasia, Flexion contracture, Sclerodactyly ORPHA:90291
Porphyria, Congenital Erythropoietic
Thickened skin, Alopecia, Joint contracture of the hand, Atypical scarring of skin, Hypertrichosi... OMIM:263700
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Coarse hair, Ichthyosis, Sparse eyelashes, Patchy alopecia, Scarring alopecia of ... ORPHA:35173
Chronic Mucocutaneous Candidiasis
Abnormal fingernail morphology, Abnormal dental enamel morphology, Abnormal toenail morphology, B... ORPHA:1334
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Alopecia, Widened atrophic scar, Umbilical hernia, Inguinal hernia, Ventral hernia, H... ORPHA:536532
Leprosy
Alopecia, Sparse body hair, Loss of eyelashes, Hypohidrosis, Absent eyebrow, Hyperkeratosis ORPHA:548
Johanson-Blizzard Syndrome
Anemia, Abnormal hair pattern, Alopecia ORPHA:2315
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Autoimmune hemolytic anemia, Splenomegaly, Nail dystrophy, Iron deficiency anemia, Neut... ORPHA:37042
Oculocerebrocutaneous Syndrome
Abnormal fingernail morphology, Alopecia, Congenital diaphragmatic hernia ORPHA:1647
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Alopecia, Subungual hyperkeratosis, Atrichia, Umbilical hernia, Nail dys... OMIM:308205
Familial Benign Chronic Pemphigus
Acantholysis, Hyperkeratosis ORPHA:2841
Immunodeficiency, Common Variable, 10
Alopecia totalis, Trachyonychia OMIM:615577
Polyendocrine-Polyneuropathy Syndrome
Alopecia ORPHA:453533
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Long eyelashes, Inguinal hernia, Ichthyosis, Curly hair, Sparse hair, Hyperker... OMIM:607721
Giant Cell Arteritis
Alopecia, Hyperhidrosis ORPHA:397
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Alopecia, Hypoplastic fingernail, Abnormal hair morphology, Hyperconvex fingernails, Thin eyebrow... ORPHA:2273
Leprechaunism
Thickened skin, Facial hypertrichosis, Central hypothyroidism, Hypertrichosis, Hyperaldosteronism... ORPHA:508
Atypical Werner Syndrome
Abnormal hair whorl, Alopecia, Chondrocalcinosis, Premature graying of hair, Abnormal hair morpho... ORPHA:79474
Gapo Syndrome
Alopecia, Sparse eyebrow, Umbilical hernia, Sparse eyelashes, Early balding ORPHA:2067
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Alopecia, Leukop... ORPHA:227990
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse pubic hair, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Breast hypoplasia, Alop... ORPHA:2232
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Alopecia, Hirsutism ORPHA:90795
Peeling Skin Syndrome 6
Parakeratosis, Orthokeratosis OMIM:618084
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Ichthyosis OMIM:163200
Encephalocraniocutaneous Lipomatosis
Lipoma, Alopecia, Multiple central nervous system lipomas, Subcutaneous lipoma OMIM:613001
Neonatal Lupus Erythematosus
Parakeratosis, Hyperkeratosis ORPHA:398124
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Nail dystrophy,... ORPHA:79501
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis, Thrombocytopenia, Normochromic anemia OMIM:618775
Rothmund-Thomson Syndrome, Type 2
Alopecia, Sparse eyebrow, Premature graying of hair, Nail dystrophy, Sparse eyelashes, Absent eye... OMIM:268400
Congenital Disorder Of Glycosylation, Type If
Flexion contracture, Hyperkeratosis OMIM:609180
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Palmoplantar keratoderma, Atrophic scars, Nail dystrophy, Scarring, Enamel hypoplasia, ... ORPHA:79396
Alstrom Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Hypothyroidism, Acanthosis nigri... OMIM:203800
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hyperkeratosis OMIM:301108
Nestor-Guillermo Progeria Syndrome
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Flexion contracture, Lipoatrophy, Spa... OMIM:614008
Rothmund-Thomson Syndrome
Sparse eyebrow, Small nail, Porokeratosis, Abnormal dental enamel morphology, Alopecia totalis, S... ORPHA:2909
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis OMIM:610227
Colchicine Poisoning
Alopecia, Leukocytosis ORPHA:31824
Psoriasis 14, Pustular
Parakeratosis, Nail dystrophy OMIM:614204
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Limb-Mammary Syndrome
Alopecia, Sparse eyebrow, Absent nipple, Breast aplasia, Nail dysplasia, Hypoplastic nipples, Hyp... ORPHA:69085
Gapo Syndrome
Alopecia, Sparse eyebrow, Breast hypoplasia, Sparse eyelashes, Nail dysplasia, Hypoplastic nipple... OMIM:230740
Leigh Syndrome
Alopecia, Frontal hirsutism, Hypertrichosis, Neutropenia, Anemia ORPHA:506
Focal Dermal Hypoplasia
Alopecia, Camptodactyly of finger, Umbilical hernia, Abnormal dental enamel morphology, Congenita... ORPHA:2092
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Alopecia, Leukop... ORPHA:227982
Woodhouse-Sakati Syndrome
Alopecia, Sparse hair, Hyperlipidemia, Fine hair OMIM:241080
Dyskeratosis Congenita, X-Linked
Alopecia, Premature graying of hair, Pterygium of nails, Pancytopenia, Leukopenia, Ridged nail, N... OMIM:305000
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis ORPHA:163966
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse pubic hair, Sparse eyebrow, Xerostomia, Fair hair, Decreased response to growth hormone st... OMIM:129900
Distal Deletion 19P
Alopecia, Keloids, Umbilical hernia, Thick eyebrow, Vaginal hernia ORPHA:96129
Hallermann-Streiff Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of hair texture, Sparse... ORPHA:2108
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosifo... OMIM:608013
Hermansky-Pudlak Syndrome
Thickened skin, Abnormal dental enamel morphology, Long eyelashes, Hypopigmentation of hair, Hype... ORPHA:79430
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis, Enamel hypoplasia, Secondary hyperparathyroidism OMIM:277440
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis ORPHA:158681
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse pubic hair, Sparse eyebrow, Xerostomia, Fair hair, Decreased response to growth hormone st... OMIM:604292
Fabry Disease
Hyperlipidemia, Hypohidrosis, Hyperkeratosis ORPHA:324
Biotinidase Deficiency
Alopecia, Splenomegaly OMIM:253260
Autoinflammation With Arthritis And Dyskeratosis
Palmoplantar hyperkeratosis, Follicular hyperkeratosis, Thyroiditis OMIM:617388
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Lipoma, Hyperkeratosis, Pilomatrixoma OMIM:620189
Rothmund-Thomson Syndrome Type 1
Porokeratosis, Abnormal dental enamel morphology, Alopecia totalis, Sparse or absent eyelashes, N... ORPHA:221008
Noonan Syndrome 10
Sparse eyebrow, Hyperkeratosis, Curly hair OMIM:616564
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis OMIM:133190
Bartsocas-Papas Syndrome 1
Alopecia, Small nail, Alopecia totalis, Inguinal hernia, Absent eyelashes, Absent eyebrow, Anonyc... OMIM:263650
Scalp-Ear-Nipple Syndrome
Thickened skin, Sparse pubic hair, Fine hair, Breast aplasia, Nail dysplasia, Patchy alopecia, Hy... OMIM:181270
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia OMIM:210210
Insulin-Resistance Syndrome Type B
Alopecia, Leukopenia, Thrombocytopenia, Hirsutism ORPHA:2298
Woodhouse-Sakati Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Hyperlipidemia, Hypothyroidism, ... ORPHA:3464
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Parakeratosis ORPHA:284426
Localized Scleroderma
Thickened skin, Abnormal skin adnexa morphology, Fasciitis, Hashimoto thyroiditis, Patchy alopeci... ORPHA:90289
Kikuchi-Fujimoto Disease
Alopecia, Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:50918
Subacute Cutaneous Lupus Erythematosus
Hyperkeratosis ORPHA:163525
Autosomal Dominant Hypocalcemia
Abnormal fingernail morphology, Alopecia, Abnormality of the nail ORPHA:428
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis ORPHA:64745
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyebrow, Congenital ichthyosiform erythroderma, Sparse eyelashes, Patchy alopecia, Sparse ... OMIM:302960
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Chime Syndrome
Sparse hair, Hyperkeratosis, Ichthyosis, Fine hair ORPHA:3474
Wiedemann-Rautenstrauch Syndrome
Sparse eyebrow, Alopecia, Small nail, Alopecia of scalp, Absence of subcutaneous fat, Reduced sub... OMIM:264090
Acute Radiation Syndrome
Hyperkeratosis ORPHA:454831
Xeroderma Pigmentosum
Thickened skin, Alopecia, Hyperkeratosis ORPHA:910
Rothmund-Thomson Syndrome Type 2
Porokeratosis, Abnormal dental enamel morphology, Alopecia totalis, Sparse or absent eyelashes, N... ORPHA:221016
Familial Keratoacanthoma
Hyperkeratosis ORPHA:493
Reactive Arthritis
Dystrophic fingernails, Hyperkeratosis, Abnormality of the nail, Enthesitis ORPHA:29207
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hyperkeratosis OMIM:612852
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Fair hair, Decreased response to growth hormone stimulation test, Primary adrenal insuf... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Fair hair, Decreased response to growth hormone stimulation test, Primary adrenal insuf... ORPHA:363958
Noonan Syndrome 2
Sparse eyebrow, Arthrogryposis multiplex congenita, Low posterior hairline, Distal arthrogryposis... OMIM:605275
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Alopecia, Lipodystrophy, Multiple lipomas ORPHA:2396
Orofaciodigital Syndrome Type 1
Alopecia, Coarse hair, Abnormal dental enamel morphology, Exocrine pancreatic insufficiency, Brit... ORPHA:2750
Meige Disease
Cellulitis, Cobblestone-like hyperkeratosis, Atypical scarring of skin ORPHA:90186
Phakomatosis Pigmentokeratotica
Patchy alopecia, Hyperhidrosis ORPHA:2874
Biotinidase Deficiency
Alopecia ORPHA:79241
Autosomal Dominant Robinow Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Camptodactyly of finger, Umbilical her... ORPHA:3107
Orofaciodigital Syndrome I
Sparse hair, Alopecia, Dry hair, Enamel hypoplasia OMIM:311200
Ramon Syndrome
Hyperkeratosis, Hypertrichosis OMIM:266270
Autosomal Recessive Robinow Syndrome
Alopecia, Camptodactyly of finger, Umbilical hernia, Fingernail dysplasia, Long eyelashes, Inguin... ORPHA:1507
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Leukocytosis OMIM:619321
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Thickened skin, Thick eyebrow, Hypoplastic sweat glands, Orthokeratotic hyperkeratosis, Epidermal... ORPHA:73223
Bloom Syndrome
Abscess, Decreased proportion of CD4-positive T cells, Sparse eyelashes, Abnormal proportion of C... ORPHA:125
Mycetoma
Cobblestone-like hyperkeratosis ORPHA:2583
Linear Nevus Sebaceus Syndrome
Alopecia ORPHA:2612
Kindler Epidermolysis Bullosa
Atypical scarring of skin, Palmoplantar keratoderma, Camptodactyly of finger, Abnormal dental ena... ORPHA:2908
Steinert Myotonic Dystrophy
Alopecia, Decreased response to growth hormone stimulation test, Abnormality of thyroid physiolog... ORPHA:273
Chronic Graft Versus Host Disease
Thickened skin, Alopecia, Xerostomia, Fasciitis, Nail dystrophy, Morphea, Onycholysis, Flexion co... ORPHA:99921
Systemic Lupus Erythematosus
Alopecia, Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:536
Juvenile Dermatomyositis
Alopecia ORPHA:93672
Dermatomyositis
Cellulitis, Alopecia, Chondrocalcinosis, Palmar hyperkeratosis, Abnormal hair quantity, Abnormali...