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Gene: Grhl1 MGI:2182540

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

grainyhead like transcription factor 1

Synonyms:

Tcfcp2l2, LBP-32, p61 MGR, p70 MGR

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 Grhl1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Grhl1 (0 diseases)
Human diseases predicted to be associated with Grhl1 (757 diseases)

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

The table below shows human diseases predicted to be associated to Grhl1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis	ORPHA:505
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Ichthyosis-Hypotrichosis Syndrome	Sparse hair, Ichthyosis	ORPHA:91132
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair, Growth delay	OMIM:246500
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hirsutism, Delayed puberty	ORPHA:2297
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera...	ORPHA:2722
Hypotrichosis 2	Sparse scalp hair	OMIM:146520
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa...	OMIM:617294
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Parana Hard Skin Syndrome	Short stature, Thickened skin, Growth delay, Hyperkeratosis, Generalized hirsutism	ORPHA:2812
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ridged nail, Acrokeratosis	OMIM:101900
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Anonychia With Flexural Pigmentation	Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia	ORPHA:69125
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia, Short stature	ORPHA:2574
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Thumb Deformity And Alopecia	Alopecia, Short stature	OMIM:188150
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Acrokeratosis, Sparse eyebrow	OMIM:620199
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Nail dystrophy, Ichthyosis	ORPHA:79503
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Nail dysplasia, Sc...	OMIM:212360
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair, Pili torti	OMIM:607903
L-Ferritin Deficiency	Alopecia	OMIM:615604
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Alopecia, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyp...	ORPHA:79395
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey...	OMIM:601952
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll...	OMIM:616099
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis, Nail dystrophy	OMIM:131850
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera...	OMIM:300918
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar...	OMIM:619208
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Short stature, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Spars...	OMIM:618625
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma	OMIM:244850
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Bullous Dystrophy, Hereditary Macular Type	Severe short stature, Alopecia totalis, Abnormality of the nail	OMIM:302000
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Severe short stature, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onyc...	ORPHA:2251
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Alopecia, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Spar...	OMIM:242300
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Abnormality of...	ORPHA:90368
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker...	ORPHA:79397
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi...	OMIM:224750
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis	ORPHA:737
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Short stature, Fine hair, Hyperkeratosis, Pili torti	ORPHA:1573
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Porokeratosis Of Mibelli	Hyperkeratosis, Porokeratosis	ORPHA:735
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp...	ORPHA:2200
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Follicula...	OMIM:613102
Kerion Celsi	Alopecia	ORPHA:499
Aredyld	Generalized hypotrichosis	OMIM:207780
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin, Patchy alopecia	OMIM:247100
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia, Ichthyosis	OMIM:242510
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifor...	OMIM:613576
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Generalized keratosis follicularis, Pal...	ORPHA:2890
Porphyria Cutanea Tarda	Facial hypertrichosis, Scleroderma, Alopecia, Onycholysis	OMIM:176100
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Palmop...	OMIM:614594
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Abnorma...	ORPHA:89838
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Short stature, Widow's peak, Sparse hair, Intrauterine growth retardation, Thick eyebrow	OMIM:606242
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor...	ORPHA:494
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa...	OMIM:129500
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop...	OMIM:148700
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Growth delay, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Sp...	ORPHA:79402
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Alopecia of scalp, Trichodysplasia	ORPHA:79129
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Nail dystrophy, Ichthyosis, Sparse hair, Tiger tail banding	OMIM:619692
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hyperkeratosis, Cong...	OMIM:602400
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital...	OMIM:607602
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Epidermolytic Palmoplantar Keratoderma	Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar h...	ORPHA:2199
Erythrokeratodermia Variabilis Et Progressiva 2	Palmoplantar keratoderma, Hypertrichosis	OMIM:617524
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Oliver-Mcfarlane Syndrome	Alopecia, Severe short stature, Long eyebrows, Long eyelashes, Delayed puberty, Sparse hair	OMIM:275400
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Short stature, Growth delay, Ichthyosis, Sparse body hair, Aplasia/H...	ORPHA:2850
Peeling Skin Syndrome 4	Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis	OMIM:607936
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp	OMIM:136300
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Short stature, Hyperkeratosis, Coarse hair, Sparse hair	ORPHA:1883
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair, Alope...	OMIM:604536
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617526
Bathing Suit Ichthyosis	Parakeratosis, Alopecia, Thickened skin, Palmoplantar hyperkeratosis, Nail dystrophy, Congenital ...	ORPHA:100976
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hyperkeratosis, Plantar hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis	ORPHA:79399
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri...	OMIM:117850
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Growth delay, Hyperkeratosis, Con...	OMIM:242100
Erythrokeratodermia Variabilis	Alopecia, Short stature, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Generalize...	ORPHA:317
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/...	ORPHA:1818
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Palmoplantar keratoderma, Sparse hair, Sp...	OMIM:618535
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dy...	ORPHA:1882
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Congenital Ichthyosiform Erythroderma	Alopecia, Short stature, Palmoplantar keratoderma, Ichthyosis, Abnormality of the nail	ORPHA:79394
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis,...	OMIM:615821
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Sparse hair	ORPHA:2985
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ...	ORPHA:79151
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Pachyonychia Congenita 1	Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:167200
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Syndromic X-Linked Intellectual Disability 7	Short stature, Sparse body hair	ORPHA:85274
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Alopecia Antibody Deficiency	Short stature, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of ...	ORPHA:1006
Rhizomelic Chondrodysplasia Punctata	Alopecia, Rhizomelia, Short stature, Growth delay, Ichthyosis, Sparse body hair	ORPHA:177
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Alopecia, Growth delay, Long eyelashes	ORPHA:3363
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis	ORPHA:1366
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Severe postnatal growth retardation, Alopecia, Severe short stature	OMIM:203550
Ulerythema Ophryogenesis	Hyperkeratotic papule, Follicular hyperkeratosis, Sparse lateral eyebrow	ORPHA:3406
Trichothiodystrophy 2, Photosensitive	Short stature, Coarse hair, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Tiger t...	OMIM:616390
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair, Short stature	OMIM:619985
Heyn-Sproul-Jackson Syndrome	Sparse hair, Intrauterine growth retardation, Severe short stature	OMIM:618724
Lichen Planopilaris	Hyperkeratosis, Alopecia, Onycholysis, Abnormal fingernail morphology	ORPHA:525
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Ichthyosis, Acan...	ORPHA:59303
Ichthyosis, Congenital, Autosomal Recessive 14	Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:617571
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Bazex Syndrome	Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Acanthosis...	ORPHA:166113
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Palmoplantar keratoderma,...	OMIM:612843
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex...	ORPHA:2309
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant...	OMIM:194300
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow	ORPHA:79133
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Congenital Short Bowel Syndrome	Sparse hair, Short stature	ORPHA:2301
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Xq27.3Q28 Duplication Syndrome	Intrauterine growth retardation, Short stature, Sparse body hair	ORPHA:261483
Epidermolysis Bullosa, Junctional 5A, Intermediate	Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope...	OMIM:619816
Focal Facial Dermal Dysplasia 3, Setleis Type	Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes	OMIM:227260
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Ichthyosis	OMIM:618840
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Nail dysplasia, Delayed puberty	OMIM:615704
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Generalized ichthyosis, Absent ax...	ORPHA:2269
Darier Disease	Acrokeratosis, Abnormal hair morphology, Thickened skin, Palmoplantar keratoderma, Abnormality of...	ORPHA:218
Lamellar Ichthyosis	Short stature, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormality of the nail, Aplasia/Hypoplas...	ORPHA:313
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis	OMIM:613943
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Ectodermal Dysplasia/Short Stature Syndrome	Short stature, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia	OMIM:616029
Dystrophic Epidermolysis Bullosa Pruriginosa	Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy	ORPHA:89843
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Classic Mycosis Fungoides	Hyperkeratosis, Alopecia, Abnormality of the nail	ORPHA:2584
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Hyperkeratosis with erythema, Coarse hair, Moderate postnatal growth retardation	OMIM:118650
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Dermatopathia Pigmentosa Reticularis	Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis	OMIM:125595
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma	ORPHA:498359
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant...	OMIM:605676
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dystrophy, O...	OMIM:617337
Ramon Syndrome	Hyperkeratosis, Generalized hirsutism	ORPHA:3019
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Lessel-Kubisch Syndrome	Sparse pubic hair, Premature graying of hair, Short stature	OMIM:618681
Ichthyosis Prematurity Syndrome	Alopecia of scalp, Generalized ichthyosis, Follicular hyperkeratosis	OMIM:608649
Lymphatic Malformation 4	Hyperkeratosis, Toenail dysplasia	OMIM:615907
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Severe short stature, Rhizomelia, Ichthyosis	OMIM:215100
Lelis Syndrome	Yellow nails, Absent lower eyelashes, Palmoplantar hyperkeratosis, Sparse hair, Nail dystrophy, A...	ORPHA:140936
Alpha-Heavy Chain Disease	Growth delay, Alopecia	ORPHA:100025
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Short stature, Palmoplantar keratoderma, Ichthyosis, Sparse hair, Fragile nails	OMIM:242150
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Short stature, Low posterior hairline	ORPHA:2183
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Severe short stature, Moderate postnatal growth retardation, Hyperkeratosis, Ichthyosis...	ORPHA:1005
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Intrauterine growth retardation, Alopecia, Brittle hair, Short stature	ORPHA:50812
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis	OMIM:609638
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dyst...	OMIM:308800
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair, Ichthyosis, O...	OMIM:607626
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Thin nail, Hypergranulosis, Sho...	OMIM:257980
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Fibrodysplasia Ossificans Progressiva	Alopecia	ORPHA:337
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Leopard Syndrome 3	Curly hair, Short stature, Epidermal hyperkeratosis, Low posterior hairline, Growth delay, Hyperk...	OMIM:613707
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis	OMIM:133200
Acquired Ichthyosis	Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	ORPHA:454
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis	ORPHA:1028
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Autosomal Dominant Epidermolytic Ichthyosis	Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma	ORPHA:312
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Curly hair, Short stature	OMIM:615279
Filippi Syndrome	Postnatal growth retardation, Sparse hair, Intrauterine growth retardation, Frontal hirsutism, Hy...	OMIM:272440
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Short stature, Growth delay, Nail dystrophy, Atrichia	ORPHA:1867
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia of scalp, Alopecia, Palmoplantar keratoderma, Nail dystrophy	OMIM:618373
Dermoodontodysplasia	Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair	ORPHA:1660
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Abnormal fingernail morphology, Sparse body hair	ORPHA:1810
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypergranulosis, Acantholysis, Growth delay, Palmoplantar keratoderma, Sparse hair, Ichthyosis, O...	OMIM:615508
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Intrauterine growth retardation, Alopecia, Nail dystrophy	OMIM:616353
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Short stature, Fine hair, Hyperkeratosis, Sparse hair	ORPHA:1806
Ifap Syndrome 2	Ichthyosis follicularis, Sparse hair, Nail dystrophy, Atrichia	OMIM:619016
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Thickened skin, Palmoplantar keratoderma, Sparse hair	ORPHA:659
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu...	OMIM:612281
Naxos Disease	Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker...	OMIM:601214
Ichthyosis, Annular Epidermolytic, 2	Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:620148
Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:461
Nicolaides-Baraitser Syndrome	Alopecia, Severe short stature, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Lo...	ORPHA:3051
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:181
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A...	OMIM:607823
Hypotrichosis 3	Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor...	OMIM:613981
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia, Short stature, Delayed puberty	OMIM:612079
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Trichotillomania	Alopecia	OMIM:613229
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Progeroid Syndrome, Petty Type	Brittle hair, Short stature, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in...	ORPHA:2963
Satoyoshi Syndrome	Alopecia, Short stature, Alopecia universalis	OMIM:600705
Menkes Disease	Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation	OMIM:309400
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec...	ORPHA:2930
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma	OMIM:146590
Lipoid Proteinosis	Hyperkeratosis, Thickened skin, Alopecia of scalp	ORPHA:530
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair	ORPHA:1897
Trichohepatoenteric Syndrome 2	Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa, Intrauterine growt...	OMIM:614602
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis, Ichthyosis	OMIM:610768
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Short stature, Coarse hair, Nail dystrophy, Intrauterine growth retardation	ORPHA:75389
Gand Syndrome	Sparse hair	OMIM:615074
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Onycholysis, Fol...	OMIM:616295
Lichen Planus Pemphigoides	Hyperkeratosis, Abnormality of the nail	ORPHA:254478
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Growth delay, Nail dys...	OMIM:234050
Anauxetic Dysplasia 2	Short stature, Nail dysplasia, Small nail, Sparse hair, Intrauterine growth retardation	OMIM:617396
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Short stature, Palmoplantar hyperkeratosis, Sparse ...	OMIM:615280
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Short stature, Fine hair, Hyperkeratosis, Fragile nails, Nail dystro...	OMIM:601675
Chanarin-Dorfman Syndrome	Alopecia, Congenital nonbullous ichthyosiform erythroderma	OMIM:275630
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse hair, Short stature, Sparse eyebrow	OMIM:619989
Pachyonychia Congenita 2	Subungual hyperkeratosis, Dry hair, Sparse scalp hair, Sparse eyebrow, Palmoplantar hyperkeratosi...	OMIM:167210
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis	OMIM:136630
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N...	ORPHA:251393
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Sparse scalp hair	ORPHA:2611
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis	ORPHA:38
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Thickened skin, Palmoplantar keratoderma, Ichthyosis, Abnormality of th...	ORPHA:2897
Bazex-Dupre-Christol Syndrome	Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa	OMIM:301845
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Acanthosis nigricans, Short stature, Sparse hair	OMIM:268020
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Hypergranulosis	OMIM:615023
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Short stature, Sparse eyebrow, Reduced hair sulfur content, Spar...	OMIM:300953
Intellectual Developmental Disorder, Autosomal Recessive 5	Short stature, Postnatal growth retardation, Synophrys, Sparse hair, Thick eyebrow	OMIM:611091
Bresek Syndrome	Growth delay, Intrauterine growth retardation, Alopecia, Ichthyosis	ORPHA:85284
Congenital Disorder Of Glycosylation, Type Iq	Hyperkeratosis, Hypertrichosis, Ichthyosis	OMIM:612379
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ...	ORPHA:1807
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:616819
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Donohue Syndrome	Postnatal growth retardation, Hyperkeratosis, Nail dysplasia, Acanthosis nigricans, Intrauterine ...	OMIM:246200
Sjögren-Larsson Syndrome	Hyperkeratosis, Short stature, Ichthyosis	ORPHA:816
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair	OMIM:273390
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Sparse pubic hair, Sparse axillary hair	OMIM:146110
Rodrigues Blindness	Sparse hair, Short stature, Fine hair	OMIM:268320
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Pachyonychia Congenita 3	Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail dystrophy, Fol...	OMIM:615726
Atrophoderma Vermiculata	Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis	ORPHA:158681
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Dystrophic toenail, Nail...	ORPHA:3253
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Short stature	ORPHA:88630
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Trichorrhexis n...	ORPHA:1010
Sézary Syndrome	Alopecia, Palmoplantar keratoderma, Nail dystrophy	ORPHA:3162
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism	ORPHA:79431
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic hair, Hyperkeratosis, Ichthyosis, Nail...	OMIM:148210
Ichthyosis, Congenital, Autosomal Recessive 3	Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth...	OMIM:606545
Psoriasis 2	Hyperkeratosis, Parakeratosis	OMIM:602723
Incontinentia Pigmenti	Ridged nail, Alopecia, Short stature, Supernumerary nipple, Nail pits, Fine hair, Hyperkeratosis,...	OMIM:308300
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Netherton Syndrome	Sparse scalp hair, Parakeratosis, Brittle hair, Brittle scalp hair, Sparse eyebrow, Congenital no...	OMIM:256500
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epidermal hyperkeratosis, Absent e...	OMIM:137940
Blepharocheilodontic Syndrome 1	Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis	OMIM:119580
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Intrauterine growth retardation, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo...	ORPHA:158687
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Severe short stature, Growth delay, Thin eyebrow	ORPHA:3242
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short stature, Sparse eyebrow, Fine ha...	OMIM:129400
Chromosome Xq27.3-Q28 Duplication Syndrome	Intrauterine growth retardation, Short stature, Sparse body hair	OMIM:300869
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Intrauterine growth retardation, Short stature, Sparse facial hair, Sparse axillary hair	OMIM:608154
Cardiocranial Syndrome, Pfeiffer Type	Short stature, Abnormal hair whorl, Growth delay, Sparse hair, Intrauterine growth retardation	ORPHA:2872
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Systemic Lupus Erythematosus 17	Alopecia	OMIM:301080
Desbuquois Syndrome	Sparse hair, Severe short stature, Disproportionate short-limb short stature, Abnormal eyelash mo...	ORPHA:1425
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa	OMIM:619691
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis	OMIM:615225
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Sparse hair	ORPHA:2316
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis	OMIM:618531
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis	ORPHA:83453
Noonan Syndrome 8	Hyperkeratosis, Curly hair, Short stature	OMIM:615355
Hutchinson-Gilford Progeria Syndrome	Growth delay, Alopecia	OMIM:176670
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Follicular hyperkeratosis, Sparse hair, Ch...	OMIM:158310
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt...	OMIM:604777
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
2Q32Q33 Microdeletion Syndrome	Sparse hair, Growth delay, Short stature, Fine hair	ORPHA:251019
Costello Syndrome	Deep-set nails, Abnormal fingernail morphology, Short stature, Concave nail, Hypoplastic toenails...	ORPHA:3071
Irida Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:209981
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Short stature, Ichthyosis	ORPHA:281090
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia	OMIM:616576
Mandibuloacral Dysplasia	Alopecia, Postnatal growth retardation, Sparse hair, Acanthosis nigricans, Hypoplastic fingernail	ORPHA:2457
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Short stature, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sp...	ORPHA:1787
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Hyperkeratosis, Aplasia/Hypoplasia of the eyebrow, Bre...	ORPHA:238468
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic...	OMIM:614941
Cerebrooculofacioskeletal Syndrome 2	Sparse hair, Intrauterine growth retardation, Growth delay	OMIM:610756
Even-Plus Syndrome	Sparse hair, Synophrys, Severe short stature, Highly arched eyebrow	OMIM:616854
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Follicular hyperkeratosis	OMIM:613736
Noonan Syndrome 6	Curly hair, Short stature, Long eyebrows, Low posterior hairline, Growth delay, Sparse hair	OMIM:613224
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
Cranioectodermal Dysplasia	Sparse hair, Rhizomelia, Abnormal toenail morphology, Abnormal fingernail morphology	ORPHA:1515
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Autoimmune Polyendocrinopathy Type 2	Alopecia	ORPHA:3143
Prolidase Deficiency	Abnormal fingernail morphology, Low anterior hairline, Hyperkeratosis, Palmoplantar keratoderma, ...	ORPHA:742
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Short stature, Sparse eyebrow, Low posterior hairline, Growth delay, Hype...	OMIM:604173
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Palmar hyperkeratosis, Dystrophic fingernails...	OMIM:150400
Androgen Insensitivity Syndrome	Sparse pubic hair, Absent facial hair, Sparse axillary hair	OMIM:300068
Proteus Syndrome	Hyperkeratosis	OMIM:176920
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Growth delay, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis	OMIM:614457
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Small nail, Ichthyosis, Intrauterine g...	ORPHA:166035
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d...	ORPHA:978
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Short stature, Fine hair, Growth delay, Delayed puberty, Sparse hair, Intrauterine growth retarda...	OMIM:616817
Keutel Syndrome	Alopecia, Short stature	ORPHA:85202
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Alopecia	ORPHA:453533
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Familial Benign Chronic Pemphigus	Hyperkeratosis, Acantholysis	ORPHA:2841
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Hypoplastic nipples, Small nail	OMIM:273400
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Generalized hirsutism, Palmoplantar hyperkeratosis, Palmoplantar ...	ORPHA:678
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Intrauterine growth retardation, Alopecia, Fine hair	ORPHA:228390
Holocarboxylase Synthetase Deficiency	Growth delay, Alopecia	ORPHA:79242
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	ORPHA:409
Schimmelpenning-Feuerstein-Mims Syndrome	Growth delay, Alopecia, Short stature, Ichthyosis	OMIM:163200
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:28378
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis	ORPHA:300179
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis	OMIM:610227
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Proportionate short stature, Synophrys, Low anterior hairline, Fine hair, Severe postnatal growth...	ORPHA:391408
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Follicular hyperkeratosis	OMIM:615147
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Palmoplantar keratode...	OMIM:106260
Kury-Isidor Syndrome	Growth delay, Alopecia, Hypertrichosis	OMIM:619762
Tetrasomy 12P	Sparse hair, Short stature, Sparse eyebrow	ORPHA:884
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow	OMIM:261990
Monosomy 18P	Alopecia, Short stature, Low posterior hairline	ORPHA:1598
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short stature, Sparse body hair	ORPHA:2234
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Short stature, Fine hair, Premature graying of hair, Growth delay, Nail dysplasia, Intr...	OMIM:613990
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail	OMIM:614219
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Short stature, Alopecia universalis	ORPHA:3130
Flynn-Aird Syndrome	Alopecia	ORPHA:2047
Omenn Syndrome	Thickened skin, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:39041
Chilblain Lupus	Hyperkeratosis	ORPHA:90280
Fanconi Anemia, Complementation Group S	Sparse hair, Long eyelashes, Low anterior hairline, Short stature	OMIM:617883
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Short stature, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal...	ORPHA:35173
Peeling Skin Syndrome 6	Orthokeratosis, Parakeratosis	OMIM:618084
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Patchy alopecia, Short stature	ORPHA:85279
Xp22.13P22.2 Duplication Syndrome	Sparse hair, High anterior hairline, Short stature	ORPHA:284180
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Rhizomelia, Sparse eyebrow, Postnatal growth retardation, Congenital ichthyosif...	OMIM:302960
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Hirsutism	OMIM:615830
Harlequin Ichthyosis	Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis	ORPHA:457
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Short stature, Trichiasis, Hyperkeratosis, Nail dysplasia, Trichodysplasia	OMIM:601701
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Fine hair, Growth delay, Sparse or absent eyelashes, Nail dysplasia, Sparse...	ORPHA:217346
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Sclerodactyly	OMIM:610644
Gomez-Lopez-Hernandez Syndrome	Alopecia, Short stature	OMIM:601853
Dowling-Degos Disease	Hyperkeratosis, Hyperkeratotic papule, Abnormal fingernail morphology	ORPHA:79145
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hyperkeratosis, Frontal upsweep of hair, Broad eyebrow	OMIM:301220
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Short stature, Abnormal eyelash morphology, Low posterior hairli...	ORPHA:1340
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Growth delay, Anonychia, Palmoplantar keratoderma, Nail dystrophy...	ORPHA:79410
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Short stature, Sparse lateral eyebrow	OMIM:190351
Macs Syndrome	Alopecia, Short stature, Sparse eyebrow, Ichthyosis, Sparse hair	OMIM:613075
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Short stature, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails	ORPHA:77258
Braddock-Carey Syndrome 1	Sparse hair, Curly hair, Growth delay	OMIM:619980
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia, Short stature	OMIM:617763
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Short stature, Concave nail, Leukonychia, Fine hair, Growth delay, ...	OMIM:190350
Chromosome 19Q13.11 Deletion Syndrome, Distal	Short stature, Sparse eyelashes, Sparse eyebrow, Postnatal growth retardation, Growth delay, Nail...	OMIM:613026
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple	ORPHA:3224
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Hirsutism	OMIM:618087
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Growth delay, Alopecia, Nail dystrophy, Nail dysplasia	OMIM:226600
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Alopecia, Short stature, Hyperkeratosis, Congenital ichthyosiform erythroderma, Mi...	OMIM:308050
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology	ORPHA:3453
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Short stature, Nail dystrophy, Intrauterine growth retardation	OMIM:620040
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Acanthosis nigricans, Hyperkeratosis, Parakeratosis, Ichthyosis	OMIM:618527
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia	OMIM:615559
Werner Syndrome	Sparse scalp hair, Short stature, Abnormal hair whorl, Premature graying of hair, Hyperkeratosis,...	ORPHA:902
Intellectual Developmental Disorder, Autosomal Dominant 65	Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline	OMIM:619320
Ectodermal Dysplasia-Skin Fragility Syndrome	Short stature, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Sparse hair, ...	ORPHA:158668
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Short stature, Thickened skin, Loss of eyelashes, Scleroderma, Hypertri...	OMIM:263700
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Rhizomelia, Short stature, Intrauterine growth retardation	ORPHA:163966
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Paronychia, Ridged fingernail,...	ORPHA:37
Ramon Syndrome	Hyperkeratosis, Short stature, Hypertrichosis	OMIM:266270
Ane Syndrome	Alopecia, Short stature, Delayed puberty	ORPHA:157954
Joubert Syndrome 37	Sparse hair, Short stature	OMIM:619185
Ruijs-Aalfs Syndrome	Premature graying of hair, Short stature, Sparse hair	OMIM:616200
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse hair, Sparse eyelashes, Sparse eyebrow	OMIM:224900
Psoriasis 14, Pustular	Parakeratosis, Nail dystrophy	OMIM:614204
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Ridged finger...	OMIM:268130
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse hair, Curly hair, Synophrys, Sparse eyebrow	OMIM:620075
Short Syndrome	Sparse hair, Alopecia, Severe short stature	ORPHA:3163
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Short stature, Hyperconvex nail	OMIM:619721
Punctate Palmoplantar Keratoderma Type 1	Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Orthokera...	ORPHA:79501
X-Linked Agammaglobulinemia	Alopecia, Short stature	ORPHA:47
Darier-White Disease	Ridged nail, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis	OMIM:124200
Milroy Disease	Hyperkeratosis, Toenail dysplasia	ORPHA:79452
Aredyld Syndrome	Intrauterine growth retardation, Short stature, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Short stature, Abnormal hair morphology, Nail dystrophy, Delayed puberty	ORPHA:90154
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair, Intrauterine growth retardation	OMIM:618253
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails...	ORPHA:1071
Borjeson-Forssman-Lehmann Syndrome	Sparse hair, Short stature, Thick eyebrow	ORPHA:127
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Short stature, Hyperkeratosis, Loose anagen hair, Long eyelashes, ...	OMIM:607721
Onychotrichodysplasia And Neutropenia	Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo...	OMIM:258360
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair, Growth delay	OMIM:608612
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair	OMIM:620001
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Sparse hair, Growth delay, Nail dystrophy	ORPHA:98813
Bartsocas-Papas Syndrome	Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Short stature, Supernumerary nipple, Abnormal hair morp...	ORPHA:464
Singleton-Merten Syndrome 2	Hyperkeratosis, Short stature	OMIM:616298
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Gro...	ORPHA:2232
Omenn Syndrome	Thickened skin, Alopecia	OMIM:603554
Johanson-Blizzard Syndrome	Intrauterine growth retardation, Alopecia, Short stature, Abnormal hair pattern	ORPHA:2315
H Syndrome	Abnormal eyebrow morphology, Alopecia, Short stature, Ichthyosis, Scleroderma, Delayed puberty, H...	ORPHA:168569
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Nail dystrophy, Nail dysplasia	OMIM:175500
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia	OMIM:618282
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Mandibuloacral Dysplasia With Type A Lipodystrophy	Sparse scalp hair, Alopecia, Postnatal growth retardation, Growth delay, Acanthosis nigricans, On...	OMIM:248370
Bone Marrow Failure Syndrome 3	Short stature, Hyperkeratosis, Nail dystrophy, Small nail, Sparse hair, Intrauterine growth retar...	OMIM:617052
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Kid Syndrome	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Postnatal growth retardation, Trich...	ORPHA:477
Hawkinsinuria	Sparse hair	OMIM:140350
Rothmund-Thomson Syndrome	Plantar hyperkeratosis, Porokeratosis, Sparse eyelashes, Alopecia totalis, Short stature, Sparse ...	ORPHA:2909
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Follicular hyperkeratosis, Delayed puberty	ORPHA:486815
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Short stature, Congenital nonbullous ichthyosiform erythroderma	ORPHA:98907
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Hemochromatosis, Type 1	Alopecia	OMIM:235200
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Short stature, Abnormal ey...	ORPHA:1775
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela...	ORPHA:544488
Gapo Syndrome	Alopecia, Sparse eyelashes, Short stature, Sparse eyebrow, Early balding, Growth delay	ORPHA:2067
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:617988
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Short stature	ORPHA:93160
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Chronic Mucocutaneous Candidiasis	Abnormal fingernail morphology, Broad nail, Hyperkeratosis, Abnormal toenail morphology, Abnormal...	ORPHA:1334
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Delayed menarche, Alopecia	ORPHA:412057
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Absent pubertal growth spurt, Sparse eyebrow, Fine hair, Ne...	OMIM:250250
Cutis Laxa, Autosomal Recessive, Type Iiia	Sparse hair, Intrauterine growth retardation, Short stature	OMIM:219150
Osteogenesis Imperfecta, Type Xx	Highly arched eyebrow, Disproportionate short-limb short stature, Sparse hair, Intrauterine growt...	OMIM:618644
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Intrauterine growth retardation, Nail dystrophy	OMIM:615190
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Short stature, Absent eyelashes, Low posterior hai...	OMIM:115150
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair	OMIM:127550
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Follicular hyperkeratosis	OMIM:617066
Adrenoleukodystrophy	Alopecia	OMIM:300100
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Breast aplasia	ORPHA:90153
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Short stature, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline	OMIM:250410
Alstrom Syndrome	Acanthosis nigricans, Alopecia, Short stature	OMIM:203800
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail	ORPHA:974
Sialidosis Type 1	Hyperkeratosis, Short stature	ORPHA:812
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Short stature, Postnatal growth retardation, Fine hair, Premature graying of hair, Nail dystrophy...	OMIM:612199
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair	OMIM:614105
Celiac Disease, Susceptibility To, 1	Postnatal growth retardation, Alopecia, Short stature, Delayed puberty	OMIM:212750
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Short stature, Absent eyelashes, S...	OMIM:268400
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair, Intrauterine growth r...	OMIM:613451
Immunodeficiency, Common Variable, 10	Trachyonychia, Alopecia totalis	OMIM:615577
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short stature, Fine hair, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow	OMIM:614091
Chromosome 5P13 Duplication Syndrome	Sparse hair, Low posterior hairline	OMIM:613174
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Scleroderma, Alopecia u...	ORPHA:363618
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology	ORPHA:1647
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Short stature, Thick hair, Postnatal growth retardation, Coarse hair, Sparse hair, Intrauterine g...	ORPHA:357074
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Hypoplastic nipples, Nail dysplasia, Sp...	OMIM:230740
Congenital Disorder Of Glycosylation, Type Iia	Short stature, Postnatal growth retardation, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:212066
Noonan Syndrome 10	Sparse eyebrow, Hyperkeratosis, Curly hair, Short stature	OMIM:616564
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Thickened skin, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Alo...	ORPHA:436252
Lymphatic Malformation 12	Hyperkeratosis	OMIM:620014
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Short stature, Delayed puberty, Low posterior hairline	ORPHA:2959
Congenital Disorder Of Glycosylation, Type Iil	Growth delay, Hyperkeratosis, Intrauterine growth retardation	OMIM:614576
46,Xy Sex Reversal 6	Hirsutism, Sparse axillary hair	OMIM:613762
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Growth delay, Palmoplantar keratoderma, Nail dystrophy, Onychogryposis	ORPHA:79396
Noonan Syndrome 2	Curly hair, Short stature, Sparse eyebrow, Low posterior hairline, Hyperkeratosis	OMIM:605275
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis	ORPHA:36386
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Nail dystrophy, Alopecia universalis	OMIM:240300
Cranioectodermal Dysplasia 3	Short stature, Short nail, Rhizomelia, Broad nail, Fine hair, Sparse hair	OMIM:614099
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Short stature, Sparse eyebrow, Growth delay, Nail ...	OMIM:614008
Eec Syndrome	Slow-growing hair, Short stature, Sparse eyebrow, Nail pits, Fine hair, Hyperkeratosis, Coarse ha...	ORPHA:1896
Chromomycosis	Hyperkeratosis, Hyperparakeratosis, Hyperkeratotic papule	ORPHA:182
Familial Keratoacanthoma	Hyperkeratosis	ORPHA:493
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Short stature, Sparse body hair	ORPHA:3068
Short Stature, Microcephaly, And Endocrine Dysfunction	Short stature, Disproportionate short-limb short stature, Sparse hair, Acanthosis nigricans, Intr...	OMIM:616541
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Intrauterine growth retardation, Alopecia totalis	OMIM:618775
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia	OMIM:304790
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb...	ORPHA:2108
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia	ORPHA:169154
Noonan Syndrome 14	Curly hair, Short stature, Sparse eyebrow, Low posterior hairline, Sparse hair	OMIM:619745
Holocarboxylase Synthetase Deficiency	Alopecia	OMIM:253270
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp...	OMIM:305100
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Porokeratosis, Short stature, Alopecia totalis, Growth delay, Sparse or a...	ORPHA:221008
Mixed Connective Tissue Disease	Scleroderma, Alopecia	ORPHA:809
Premature Aging Syndrome, Penttinen Type	Hyperkeratosis, Thickened skin, Sparse hair, Palmoplantar hyperkeratosis	OMIM:601812
Leprechaunism	Facial hypertrichosis, Postnatal growth retardation, Thickened skin, Hyperkeratosis, Severe intra...	ORPHA:508
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Intrauterine growth retardation, Fine hair	OMIM:614438
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair, Short stature	ORPHA:50814
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Alopecia, Absent eyebrow, Sparse scalp hair, S...	OMIM:308205
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Brittle hair, Short stature, Fine hair, Delayed puberty, Sparse hair, Intrauterine growth retarda...	OMIM:618891
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Short stature, Low anterior hairline, Low posterior ...	OMIM:601358
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Short stature, Growth delay, Severe intrauterine growth retardation, Sparse hair, Int...	OMIM:614114
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Growth delay, Long eyelashes, ...	OMIM:615485
Mogs-Cdg	Alopecia, Fair hair, Long eyelashes, Hirsutism	ORPHA:79330
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Sparse eyelashes, Short stature, Fine hair	OMIM:257850
Neonatal Lupus Erythematosus	Hyperkeratosis, Parakeratosis	ORPHA:398124
Autoinflammation With Arthritis And Dyskeratosis	Growth delay, Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617388
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Short stature, Hirsutism	ORPHA:90795
Sting-Associated Vasculopathy, Infantile-Onset	Sparse hair, Nailfold capillary tortuosity, Nail dystrophy, Periungual erythema	OMIM:615934
Scarf Syndrome	Sparse hair, Hypoplastic nipples, Low posterior hairline	ORPHA:3134
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Porokeratosis, Short stature, Alopecia totalis, Growth delay, Sparse or a...	ORPHA:221016
Immunodeficiency 7	Patchy alopecia	OMIM:615387
Vitamin D-Dependent Rickets, Type 2A	Growth delay, Alopecia universalis	OMIM:277440
Marshall Syndrome	Sparse hair, Short stature, Sparse eyelashes, Sparse eyebrow	ORPHA:560
Hermansky-Pudlak Syndrome	Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Long eyelashes	ORPHA:79430
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Palmoplan...	ORPHA:2710
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai...	OMIM:604292
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Hyperkeratosis, Sparse body hair	ORPHA:548
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, High anterior hairline	OMIM:615510
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia	OMIM:210210
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Xeroderma Pigmentosum	Hyperkeratosis, Thickened skin, Alopecia, Short stature	ORPHA:910
Chime Syndrome	Sparse hair, Hyperkeratosis, Fine hair, Ichthyosis	ORPHA:3474
Linear Nevus Sebaceus Syndrome	Growth delay, Alopecia	ORPHA:2612
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai...	OMIM:129900
Monosomy 22	Sparse hair, Thickened skin, Synophrys, Scleroderma	ORPHA:96123
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Pilomatrixoma	OMIM:620189
Leigh Syndrome	Alopecia, Growth delay, Intrauterine growth retardation, Frontal hirsutism, Hypertrichosis	ORPHA:506
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Severe short stature, Abnormal eyelash morphology, Abn...	ORPHA:2273
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis	OMIM:133190
Gaucher Disease, Perinatal Lethal	Hyperkeratosis, Intrauterine growth retardation, Congenital nonbullous ichthyosiform erythroderma...	OMIM:608013
Glass Syndrome	Sparse hair, Short stature, Long eyelashes, Nail dysplasia	OMIM:612313
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis	OMIM:609180
Fucosidosis	Generalized hyperkeratosis, Abnormality of the nail	ORPHA:349
Scalp-Ear-Nipple Syndrome	Short stature, Sparse axillary hair, Sparse pubic hair, Thickened skin, Fine hair, Patchy alopeci...	OMIM:181270
Biotinidase Deficiency	Alopecia	OMIM:253260
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Rhizomelia, Growth delay, Nail dysplasia, Small nail, Sparse hair, Breast hypoplasia	OMIM:614813
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Short stature, Fine hair, Sparse hair, Woolly hair, Trichorrhexis nodos...	OMIM:222470
Teebi-Shaltout Syndrome	Short stature, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Sparse hair	OMIM:272950
Pediatric Systemic Lupus Erythematosus	Alopecia	ORPHA:93552
Scarf Syndrome	Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline	OMIM:312830
Encephalocraniocutaneous Lipomatosis	Alopecia	OMIM:613001
Nablus Mask-Like Facial Syndrome	Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,...	OMIM:608156
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Postnatal growth retardation, Synophrys, Sparse hair, Intrauterine growth retardation, Toenail dy...	OMIM:300966
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair, Short stature	OMIM:615349
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Patchy alopecia, Alopecia universalis	OMIM:606367
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Sparse hair, Postnatal growth retardation, Fine hair	ORPHA:251028
Subacute Cutaneous Lupus Erythematosus	Hyperkeratosis	ORPHA:163525
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Short stature, Abnormal hair morphology, Abnormal hair whorl, D...	ORPHA:79474
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Slow-growing hair, Short stature, Highly arched eyebrow, Low posterior hairline, Coar...	OMIM:617506
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Abnormality of the nail	ORPHA:428
Hamamy Syndrome	Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh...	OMIM:611174
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Short stature, Highly arched eyebrow, Postnatal growth retardation, Fine hair, Low posterior hair...	OMIM:613563
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Hirsutism	ORPHA:189427
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis	ORPHA:64745
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Nail dystrophy, Alopecia, Abnormality of the periungual region, Alopecia totalis	ORPHA:293978
Systemic Sclerosis	Thickened skin, Alopecia, Nail bed telangiectasia, Sclerodactyly	ORPHA:90291
White-Sutton Syndrome	Sparse hair, Intrauterine growth retardation, Short stature	OMIM:616364
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Parakeratosis	ORPHA:284426
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Small nail, Intr...	OMIM:263650
Giant Cell Arteritis	Alopecia	ORPHA:397
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse hair	OMIM:616449
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick...	ORPHA:73223
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair, Short stature	OMIM:607812
Reactive Arthritis	Hyperkeratosis, Dystrophic fingernails, Abnormality of the nail	ORPHA:29207
De Barsy Syndrome	Sparse hair, Intrauterine growth retardation, Postnatal growth retardation, Short stature	ORPHA:2962
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia	OMIM:269200
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Sparse eyebrow, Fine hair, Sparse ...	ORPHA:444072
Ablepharon Macrostomia Syndrome	Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Growth delay, Sparse hair, Br...	ORPHA:920
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Proportionate short stature, Sparse eyebrow, Fine hair, Spar...	OMIM:234100
Insulin-Resistance Syndrome Type B	Acanthosis nigricans, Alopecia, Hirsutism	ORPHA:2298
Ectodermal Dysplasia And Immunodeficiency 2	Sparse hair, Aplasia of the sweat glands, Sparse scalp hair	OMIM:612132
Acute Radiation Syndrome	Hyperkeratosis	ORPHA:454831
Limb-Mammary Syndrome	Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic...	ORPHA:69085
Goldberg-Shprintzen Syndrome	Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow	OMIM:609460
Down Syndrome	Sparse hair	ORPHA:870
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Sparse eyelashes, Short stature, Pterygium of nails, Premature...	OMIM:305000
Menkes Disease	Hypopigmentation of hair, Thickened skin, Woolly hair, Sparse hair, Intrauterine growth retardation	ORPHA:565
Mandibuloacral Dysplasia Progeroid Syndrome	Short stature, Sparse eyebrow, Postnatal growth retardation, Palmoplantar hyperkeratosis, Nail dy...	OMIM:619127
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Ullrich Congenital Muscular Dystrophy 1	Follicular hyperkeratosis	OMIM:254090
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair, Short stature	OMIM:311200
Biotinidase Deficiency	Alopecia	ORPHA:79241
Colchicine Poisoning	Alopecia	ORPHA:31824
Intellectual Developmental Disorder, Autosomal Dominant 54	Sparse hair, Growth delay, Short stature, Thin nail	OMIM:617799
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Postnatal growth retardation, Hyperkeratosis, Ichthyosis, Fair hair	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Postnatal growth retardation, Hyperkeratosis, Ichthyosis, Fair hair	ORPHA:363958
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hyperkeratosis	OMIM:612852
Agel Amyloidosis	Sparse hair, Nail dystrophy	ORPHA:85448
Weaver Syndrome	Sparse hair, Thin nail, Deep-set nails, Fine hair	OMIM:277590
Opitz-Kaveggia Syndrome	Sparse hair, Frontal upsweep of hair, Short stature, Fine hair	OMIM:305450
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails	OMIM:164200
Normosmic Congenital Hypogonadotropic Hypogonadism	Sparse body hair, Breast hypoplasia, Delayed puberty	ORPHA:432
Phosphoribosylpyrophosphate Synthetase Superactivity	Sparse hair, Short stature	OMIM:300661
Kaufman Oculocerebrofacial Syndrome	Sparse hair, Short stature, Sparse eyebrow	OMIM:244450
Focal Dermal Hypoplasia	Alopecia, Abnormality of the nail	ORPHA:2092
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Disproportionate short stature, Fine hair, H...	OMIM:210710
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Patchy alopecia, Short stature, Thick eyebrow	OMIM:300534
Orofaciodigital Syndrome Type 1	Sparse hair, Alopecia, Coarse hair, Brittle hair	ORPHA:2750
Juvenile Dermatomyositis	Alopecia	ORPHA:93672
Restrictive Dermopathy	Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl...	ORPHA:1662
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Palmoplantar hyperkeratosis, Fine hair, Hypoplastic nipples, Ichthyosis, S...	OMIM:280000
Autosomal Dominant Robinow Syndrome	Alopecia, Severe short stature, Short stature, Curly eyelashes, Long eyelashes, Fingernail dyspla...	ORPHA:3107
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Nail dystrophy	ORPHA:37042
Myhre Syndrome	Short stature, Thickened skin, Fine hair, Birth length less than 3rd percentile, Sparse hair, Int...	OMIM:139210
Mycetoma	Cobblestone-like hyperkeratosis	ORPHA:2583
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair, Intrauterine growth retardation	OMIM:619934
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia	ORPHA:536532
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intrauterine growth retardation, Alopecia, Short stature	OMIM:619321
Autosomal Recessive Robinow Syndrome	Disproportionate short-limb short stature, Alopecia, Long eyelashes, Fingernail dysplasia	ORPHA:1507
Mucolipidosis Ii Alpha/Beta	Brittle hair, Sparse eyebrow, Growth delay, Severe postnatal growth retardation, Sparse hair	OMIM:252500
Woodhouse-Sakati Syndrome	Growth delay, Alopecia, Aplasia/Hypoplasia of the eyebrow, Delayed puberty	ORPHA:3464
Lysinuric Protein Intolerance	Sparse hair, Short stature, Fine hair	OMIM:222700
Localized Scleroderma	Thickened skin, Abnormal skin adnexa morphology, Patchy alopecia	ORPHA:90289
Marshall-Smith Syndrome	Brittle hair, Short stature, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Hypert...	OMIM:602535
Cockayne Syndrome B	Dry hair, Severe short stature, Postnatal growth retardation, Abnormal hair morphology, Sparse ha...	OMIM:133540
Sympathetic Ophthalmia	Alopecia, Poliosis	ORPHA:79098
Stuve-Wiedemann Syndrome 1	Sparse hair, Short stature	OMIM:601559
Scalp-Ear-Nipple Syndrome	Sparse hair, Breast aplasia, Abnormal fingernail morphology	ORPHA:2036
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia	ORPHA:2396
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Sparse hair, Severe postnatal growth retardation, Intrauterine growth retardation	OMIM:620005
6Q Terminal Deletion Syndrome	Hyperkeratosis, Low anterior hairline, Highly arched eyebrow	ORPHA:75857
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Severe short stature, Loss of eyelashes, Thin eyebrow, Sparse hair, Intrauterine growth...	ORPHA:2636
Cartilage-Hair Hypoplasia	Sparse hair, Rhizomelia, Disproportionate short-limb short stature, Sparse eyebrow	ORPHA:175
Cranioectodermal Dysplasia 1	Slow-growing hair, Short nail, Thin nail, Rhizomelia, Fine hair, Sparse hair	OMIM:218330
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Paronychia, Growth delay, Nail dystrophy, Anonychia, Abnormality of the nail	ORPHA:79404
Autoimmune Polyendocrinopathy Type 4	Alopecia	ORPHA:227990
Costello Syndrome	Deep-set nails, Curly hair, Short stature, Thin nail, Concave nail, Sparse hair, Acanthosis nigri...	OMIM:218040
Cockayne Syndrome A	Dry hair, Short stature, Severe postnatal growth retardation, Sparse hair, Intrauterine growth re...	OMIM:216400
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Short stature, Absent eyelashes, S...	OMIM:264090
Neurocardiofaciodigital Syndrome	Sparse hair, Short stature, Sparse eyebrow	OMIM:619869
Roberts Syndrome	Sparse hair, Postnatal growth retardation, Severe intrauterine growth retardation	ORPHA:3103
Meige Disease	Cobblestone-like hyperkeratosis	ORPHA:90186
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Parakeratosis, Coarse hair	ORPHA:83617
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Short stature, Sparse axillary hair, Sparse pubic hair, Delayed puberty, Sparse body hair	ORPHA:90796
Autoimmune Polyendocrinopathy Type 3	Alopecia	ORPHA:227982
Lenz-Majewski Hyperostotic Dwarfism	Sparse hair, Intrauterine growth retardation, Short stature	OMIM:151050
Kindler Epidermolysis Bullosa	Hyperkeratosis, Abnormal toenail morphology, Palmoplantar keratoderma	ORPHA:2908
Behcet Syndrome	Patchy alopecia	OMIM:109650
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Short stature, Sparse eyebrow, Hypoplastic nipples, Small nail, Nail dystrophy, Sp...	OMIM:620186
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Abnormal fingernail morphology, Short stature, Hypoplastic toenails, Postnatal growth r...	ORPHA:99413
Turner Syndrome	Alopecia, Abnormal fingernail morphology, Short stature, Hypoplastic toenails, Postnatal growth r...	ORPHA:881
Mosaic Monosomy X	Alopecia, Abnormal fingernail morphology, Short stature, Hypoplastic toenails, Postnatal growth r...	ORPHA:99228
Monosomy X	Alopecia, Abnormal fingernail morphology, Short stature, Hypoplastic toenails, Postnatal growth r...	ORPHA:99226
Chilton-Okur-Chung Neurodevelopmental Syndrome	Sparse scalp hair, Short stature, Highly arched eyebrow, Sparse eyebrow, Synophrys, Low anterior ...	OMIM:619841
Bloom Syndrome	Sparse eyelashes, Paronychia, Growth delay, Severe postnatal growth retardation, Patchy alopecia,...	ORPHA:125
Chronic Graft Versus Host Disease	Alopecia, Thickened skin, Onycholysis, Nail dystrophy, Morphea	ORPHA:99921
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Small nail	OMIM:100300
Ring Chromosome 13 Syndrome	Growth delay, Alopecia	ORPHA:96176
De Sanctis-Cacchione Syndrome	Parakeratosis, Severe short stature	OMIM:278800
Cranioectodermal Dysplasia 2	Rhizomelia, Short stature, Sparse eyelashes, Sparse eyebrow, Sparse hair	OMIM:613610
Restrictive Dermopathy 1	Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Absent eyelashes, Sparse eyebrow, Intraut...	OMIM:275210
Kyphoscoliotic Ehlers-Danlos Syndrome	Synophrys, Short stature, Follicular hyperkeratosis	ORPHA:536545
Fabry Disease	Hyperkeratosis, Short stature, Delayed puberty	ORPHA:324
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis	ORPHA:79280
Systemic Lupus Erythematosus	Alopecia	ORPHA:536
Phakomatosis Pigmentokeratotica	Patchy alopecia	ORPHA:2874
Relapsing Polychondritis	Alopecia	ORPHA:728
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sparse hair, Intrauterine growth retardation, Frontal hirsutism, Short stature	OMIM:617157
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Short stature, Supernumerary nipple, Patchy alopecia, Nail dystrophy, ...	OMIM:305600
Renpenning Syndrome 1	Sparse hair, Brittle hair, Short stature, Sparse lateral eyebrow	OMIM:309500
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail	OMIM:200110
Lipodystrophy, Familial Partial, Type 7	Acanthosis nigricans, Sparse scalp hair, Sparse hair	OMIM:606721
Wrinkly Skin Syndrome	Sparse hair, Intrauterine growth retardation, Postnatal growth retardation, Short stature	ORPHA:2834
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Thick eyebrow, Mild postnatal growth retardation, Growth delay, Sparse hair, A...	OMIM:150230
Lymphatic Filariasis	Hyperkeratosis	ORPHA:2035
Steinert Myotonic Dystrophy	Early balding, Alopecia	ORPHA:273
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Sparse hair, Nail dysplasia	OMIM:616682
Wrinkly Skin Syndrome	Short stature, Short nail, Sparse hair, Intrauterine growth retardation, Fragile nails	OMIM:278250
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Short stature, Synophrys, Growth delay, Sparse hair, Severe intrauterine growt...	ORPHA:3455
Kikuchi-Fujimoto Disease	Alopecia	ORPHA:50918
Kanzaki Disease	Hyperkeratosis	OMIM:609242
Branchiooculofacial Syndrome	Supernumerary nipple, Postnatal growth retardation, Low posterior hairline, Premature graying of ...	OMIM:113620
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Alopecia totalis, Loss of eyelashes, Patchy alopecia, Delayed menarche, Dystrophi...	ORPHA:740
Cowden Syndrome	Palmoplantar keratoderma, Generalized hyperkeratosis, Short stature	ORPHA:201
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Follicular hyperkeratosis	OMIM:614557
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Follicular hyperkeratosis	OMIM:225400
Viss Syndrome	Sparse scalp hair, Alopecia, Short stature, Hirsutism	OMIM:619472
Proteus Syndrome	Thickened skin, Generalized hyperkeratosis, Abnormality of the nail, Generalized hirsutism	ORPHA:744
Menke-Hennekam Syndrome 1	Sparse hair, Long eyelashes, Thick eyebrow	OMIM:618332
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis	ORPHA:276280
Sarcoidosis	Alopecia	ORPHA:797
African Trypanosomiasis	Alopecia	ORPHA:3385
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Rhizomelia, Supernumerary nipple, Mesomelic/rhizom...	OMIM:601803
Primrose Syndrome	Sparse scalp hair, Short stature, Absent facial hair, Synophrys, Delayed puberty, Absent axillary...	OMIM:259050
Vascular Ehlers-Danlos Syndrome	Alopecia, Short stature, Abnormality of hair texture, Abnormal eyelash morphology, Aplasia/Hypopl...	ORPHA:286
Warburg-Cinotti Syndrome	Follicular hyperkeratosis	OMIM:618175
Roberts-Sc Phocomelia Syndrome	Sparse hair, Postnatal growth retardation, Severe intrauterine growth retardation	OMIM:268300

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Grhl1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Grhl1.

No publications found that use IMPC mice or data for Grhl1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Grhl1^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Grhl1^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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