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Gene: Cd109 MGI:2445221

Gene Summary

Name:

CD109 antigen

Synonyms:

9930012E15Rik, Gov platelet alloantigens

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
eye hemorrhage		Cd109^{tm1.1(KOMP)Vlcg}	HOM		Early adult	1.52×10^-06
absent vibrissae		Cd109^{tm1.1(KOMP)Vlcg}	HOM		Early adult	6.69×10^-05

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Viewing: all phenotypes

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 Cd109 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 Cd109 (1 diseases)
Human diseases predicted to be associated with Cd109 (596 diseases)

The table below shows human diseases associated to Cd109 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Fetal And Neonatal Alloimmune Thrombocytopenia		Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr...	ORPHA:853

The table below shows human diseases predicted to be associated to Cd109 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Hypotrichosis 2	Sparse scalp hair	OMIM:146520
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Pili Gemini	Abnormal hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1...	ORPHA:79492
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
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
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratos...	ORPHA:505
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera...	ORPHA:2722
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Hypertrichosis, Congenital Generalized	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Dissecting Cellulitis Of The Scalp	Abnormal hair morphology, Recurrent skin infections, Pruritus	ORPHA:345
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Follicular hyperkeratosis, Sparse hair,...	OMIM:607903
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Aredyld	Generalized hypotrichosis	OMIM:207780
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Ectodermal Dysplasia 5, Hair/Nail Type	Sparse scalp hair, Dystrophic fingernails, Absent toenail	OMIM:614927
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse eyebrow, Sparse scalp hair, Absent eyebrow, Sparse eyelashes	OMIM:620199
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Nail dystrophy	ORPHA:79503
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
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
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Kerion Celsi	Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Alopecia, Recurrent ...	ORPHA:499
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Allergic rhini...	ORPHA:90368
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Recurrent otitis media, Nail dystrop...	OMIM:618625
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia	ORPHA:2574
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri...	OMIM:117850
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern...	ORPHA:79147
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Plantar hyperkeratosis, Nail dystrophy, Pruritus	OMIM:616487
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke...	OMIM:619208
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule	ORPHA:464318
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Palmoplantar keratoderm...	OMIM:618535
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi...	OMIM:224750
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu...	OMIM:613102
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Ulerythema Ophryogenesis	Acne, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermatitis, Sparse lateral eyebrow	ORPHA:3406
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Patchy ...	ORPHA:346
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hyperkerat...	OMIM:602400
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/...	ORPHA:1818
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Sparse hair, Widow's peak, Atopic dermatitis, Thick eyebrow	OMIM:606242
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna...	ORPHA:2251
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:613576
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Erythroderm...	OMIM:242300
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613737
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Palmoplantar keratoderma, Nail ...	ORPHA:2890
Erosive Pustular Dermatosis Of The Scalp	Abnormal hair morphology, Scarring alopecia of scalp, Pustule	ORPHA:222
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre...	OMIM:613953
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Sparse body hair	ORPHA:79402
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair, Alope...	OMIM:604536
Retinopathy Of Prematurity	Vitreous hemorrhage	ORPHA:90050
Erythrokeratodermia Variabilis Et Progressiva 2	Palmoplantar keratoderma, Hypertrichosis	OMIM:617524
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop...	ORPHA:79153
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy	OMIM:619692
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dyst...	OMIM:617337
Proliferating Trichilemmal Cyst	Sparse scalp hair	ORPHA:492
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Hyperkeratosis...	ORPHA:317
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair	ORPHA:1883
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Pruritus, Hyperkeratosis, Abnormality of the nail	ORPHA:2584
Hypotrichosis 3	Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor...	OMIM:613981
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno...	ORPHA:129
Lamellar Ichthyosis	Pruritus, Hyperkeratosis, Abnormality of the nail, Erythroderma, Sparse hair, Chronic otitis medi...	ORPHA:313
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:1006
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Erythroderma, Sparse hair	ORPHA:100976
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Palmoplantar keratoderma, Erythroderma, Abno...	ORPHA:2897
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Brittle hair, Follicular hyperkeratosis	OMIM:618546
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Palmar pruritus, Palmoplantar keratoderma, Atopic dermatitis	ORPHA:498359
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, Palmoplant...	OMIM:308800
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, ...	OMIM:612843
Pachyonychia Congenita 2	Subungual hyperkeratosis, Dry hair, Sparse scalp hair, Angular cheilitis, Sparse eyebrow, Palmopl...	OMIM:167210
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Focal Facial Dermal Dysplasia 3, Setleis Type	Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes	OMIM:227260
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy...	OMIM:300918
Bazex-Dupre-Christol Syndrome	Eczema, Trichorrhexis nodosa, Atopic dermatitis, Coarse hair, Sparse hair, Trichoepithelioma, Pil...	OMIM:301845
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow	ORPHA:79133
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Oliver-Mcfarlane Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Long eyebrows, Cryptorchidism, L...	OMIM:275400
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Anterior cervical hypertrichosis	OMIM:239840
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti	ORPHA:1573
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Hyperkeratosis, Pruritis on ...	ORPHA:90280
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Retinal Capillary Malformation	Vitreous hemorrhage, Hyphema	ORPHA:71213
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Pruritus, Follicular hyperkeratosis, Erythroderma, Alopecia of scalp	OMIM:608649
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Abnormal ...	ORPHA:678
Syndromic X-Linked Intellectual Disability 7	Cryptorchidism, Sparse body hair	ORPHA:85274
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Pruritus, Palmoplantar keratoderma, Erythroderma, Abnormality of the nail	ORPHA:79394
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Abnormal fingernail morphology, Eczema, Sparse body hair	ORPHA:1810
Porphyria Cutanea Tarda, Type I	Eczema, Hypertrichosis	OMIM:176090
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A...	OMIM:615508
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Cortisone Reductase Deficiency 1	Alopecia, Acne, Hirsutism	OMIM:604931
Mal De Meleda	Inflammatory abnormality of the skin, Nonepidermolytic palmoplantar hyperkeratosis, Superficial d...	ORPHA:87503
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Coffin-Siris Syndrome 8	Sparse scalp hair, Eczema, Cryptorchidism, Long eyelashes, Thick eyebrow, Hypertrichosis	OMIM:618362
Netherton Syndrome	Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Brittle scalp hair, Ec...	OMIM:256500
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Pruritus, Sclerosing chola...	OMIM:607626
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Long eyelashes, ...	ORPHA:3363
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Ichthyosis With Confetti	Pruritus, Palmoplantar hyperkeratosis, Hypoplastic nipples, Erythroderma, Hypertrichosis	OMIM:609165
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization	OMIM:193235
Acquired Ichthyosis	Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Recurrent skin infections	ORPHA:454
Retinoschisis 1, X-Linked, Juvenile	Vitreous hemorrhage	OMIM:312700
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair	ORPHA:2985
Lelis Syndrome	Yellow nails, Absent lower eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair, A...	ORPHA:140936
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Hyperkeratosis, Onycholysis	ORPHA:525
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Dermoodontodysplasia	Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair	ORPHA:1660
Xq27.3Q28 Duplication Syndrome	Decreased testicular size, Cryptorchidism, Sparse body hair	ORPHA:261483
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, Nail dystrophy	OMIM:618806
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Sparse hair, Fragile nails	OMIM:242150
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis	ORPHA:79148
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Nail dystrophy	OMIM:614204
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Ichthyosis, Congenital, Autosomal Recessive 10	Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma	OMIM:615024
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Lipoid Proteinosis	Pustule, Hyperkeratosis, Alopecia of scalp, Acne	ORPHA:530
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Short nail, Thin nail, Sparse e...	OMIM:257980
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Fine hair, Hyperkeratosis, Keratoconjunctivitis sicca, Sparse hair	ORPHA:1806
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Trichothiodystrophy 8, Nonphotosensitive	Eczema, Sparse eyebrow, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:619691
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:181
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Fine hair, Hyperkeratosis, Keratoconjunctivitis sicca, Fragile nails...	OMIM:601675
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis...	OMIM:158310
Retinal Arteries, Tortuosity Of	Retinal hemorrhage	OMIM:180000
Lessel-Kubisch Syndrome	Sparse pubic hair, Premature graying of hair	OMIM:618681
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Hyperkeratosis with erythema, Coarse hair	OMIM:118650
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronch...	OMIM:618282
Nicolaides-Baraitser Syndrome	Alopecia, Eczema, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Cryptorchidism, ...	ORPHA:3051
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair	ORPHA:59303
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Hyperkeratosis, Aplasia/Hypoplasia ...	ORPHA:238468
Incontinentia Pigmenti	Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Keratitis, Uveitis, Fine ha...	OMIM:308300
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair	ORPHA:1897
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr...	OMIM:261900
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Sparse pubic hair, Sparse axillary hair	OMIM:146110
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis	OMIM:610768
Gand Syndrome	Sparse hair	OMIM:615074
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, N...	ORPHA:79151
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma	OMIM:133200
Kid Syndrome	Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Recurrent cutaneous fungal ...	ORPHA:477
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Low posterior hairline	ORPHA:2183
Ifap Syndrome 2	Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail dystrophy, ...	OMIM:619016
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te...	OMIM:615280
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Recurrent loss of toenails and fingernails, Crusting erythematous dermatitis, Palmoplantar hyperk...	ORPHA:158673
Trichohepatoenteric Syndrome 2	Brittle hair, Chronic hepatitis, Uncombable hair, Colitis, Sparse hair, Woolly hair, Trichorrhexi...	OMIM:614602
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Erysipelas	OMIM:615704
Familial Peripheral Male-Limited Precocious Puberty	Abnormal hair morphology, Macroorchidism, Acne	ORPHA:3000
Naxos Disease	Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker...	OMIM:601214
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N...	ORPHA:251393
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Acne, Hirsutism	OMIM:612847
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair, Cryptorchidism	OMIM:273390
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
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke...	ORPHA:158668
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Keratoconjunctivitis s...	OMIM:234050
Fg Syndrome 3	Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair	OMIM:300406
Peeling Skin Syndrome 4	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy	OMIM:607936
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Rec...	OMIM:616576
Congenital Disorder Of Glycosylation, Type Iq	Hyperkeratosis, Eczema, Hypertrichosis	OMIM:612379
Intellectual Developmental Disorder, Autosomal Recessive 5	Sparse hair, Synophrys, Eczema, Thick eyebrow	OMIM:611091
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Sparse hair, Alopecia, Palmoplantar keratoderma, Abnormal fingernail morphology	ORPHA:659
Central Precocious Puberty In Male	Pituitary microadenoma, Acne, Abnormality of secondary sexual hair, Abnormality of the testis size	ORPHA:649929
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on bre...	ORPHA:64745
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Dystrophic toenail, Nail...	ORPHA:3253
Sézary Syndrome	Alopecia, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Erythroderma	ORPHA:3162
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Palmoplantar keratode...	OMIM:106260
Filippi Syndrome	Sparse hair, Cryptorchidism, Frontal hirsutism, Hypertrichosis	OMIM:272440
Even-Plus Syndrome	Sparse hair, Synophrys, Atopic dermatitis, Highly arched eyebrow	OMIM:616854
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Leuko...	OMIM:616295
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Palmoplantar ke...	ORPHA:1010
Zinc Deficiency, Transient Neonatal	Alopecia, Eczema	OMIM:608118
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
Blepharocheilodontic Syndrome 1	Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis	OMIM:119580
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Rhinitis, H...	OMIM:614941
Prolidase Deficiency	Abnormal fingernail morphology, Pruritus, Crusting erythematous dermatitis, Low anterior hairline...	ORPHA:742
Exudative Vitreoretinopathy 4	Vitreous hemorrhage	OMIM:601813
Progeroid Syndrome, Petty Type	Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows...	ORPHA:2963
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper...	ORPHA:99827
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin...	ORPHA:464321
Androgen Insensitivity Syndrome	Sparse pubic hair, Absent facial hair, Sparse axillary hair	OMIM:300068
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Sparse hair, Hyperkeratosis, Alopecia, Abnormal toenail morphology	ORPHA:1005
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ...	OMIM:300953
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Chronic mucocutaneous candidiasis, Inflammation of the large intestine, Recurrent otitis ...	ORPHA:98813
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Subconjunctival hemorrhage, Ecchymosis, Bruisi...	ORPHA:464329
Peeling Skin Syndrome 6	Orthokeratosis, Parakeratosis, Atopic dermatitis, Pruritus	OMIM:618084
Noonan Syndrome 8	Hyperkeratosis, Curly hair, Eczema, Cryptorchidism	OMIM:615355
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Palmar hyperkeratosis, Dystrophic fingernails...	OMIM:150400
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Sparse eyebrow, Recurrent pneumonia, Low posterior hairline, H...	OMIM:604173
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse hair, Sparse eyebrow	OMIM:619989
Anauxetic Dysplasia 2	Sparse hair, Nail dysplasia, Small nail	OMIM:617396
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Abnormal hair morphology,...	ORPHA:634
Centrifugal Lipodystrophy	Inflammatory abnormality of the skin, Lymphadenitis, Alopecia	ORPHA:90156
Trichotillomania	Alopecia	OMIM:613229
Autosomal Dominant Epidermolytic Ichthyosis	Hyperkeratosis, Palmoplantar keratoderma, Erythroderma	ORPHA:312
Peeling Skin Syndrome 1	Brittle hair, Pruritus, Onycholysis, Nail dystrophy, Erythroderma	OMIM:270300
Lujo Hemorrhagic Fever	Shock, Excessive bleeding after a venipuncture, Myocarditis, Subconjunctival hemorrhage, Bradycar...	ORPHA:319213
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype...	ORPHA:340
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Myositis, Skin rash, Pustule, Nail dystrophy, Periungual erythema,...	OMIM:615934
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema	OMIM:617443
Cahmr Syndrome	Generalized hypertrichosis	OMIM:211770
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage	OMIM:264420
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec...	ORPHA:2930
Eales Disease	Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vitreous hemorrhage,...	ORPHA:40923
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Hypoplastic nipples, Small nail	OMIM:273400
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Chilblain Lupus 1	Chilblains, Abnormality of the nail	OMIM:610448
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Nail dystrophy	OMIM:616353
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis	OMIM:602723
Cranioectodermal Dysplasia	Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology	ORPHA:1515
Onychotrichodysplasia And Neutropenia	Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo...	OMIM:258360
Milroy Disease	Hydrocele testis, Hyperkeratosis, Toenail dysplasia, Erysipelas	ORPHA:79452
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke	OMIM:611773
2Q32Q33 Microdeletion Syndrome	Sparse hair, Decreased testicular size, Fine hair	ORPHA:251019
Chronic Mucocutaneous Candidiasis	Skin rash, Abnormal fingernail morphology, Pruritus, Cheilitis, Hepatitis, Broad nail, Hyperkerat...	ORPHA:1334
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Desbuquois Syndrome	Sparse hair, Abnormal eyelash morphology	ORPHA:1425
Iga Pemphigus	Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Ulcerative colitis, Cutan...	ORPHA:555905
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Acne, Frontal balding, Synophrys, Facial hirsutism, High anterior hairline, Abnorm...	ORPHA:247768
Cardiocranial Syndrome, Pfeiffer Type	Sparse hair, Abnormal hair whorl, Cryptorchidism	ORPHA:2872
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey...	ORPHA:1787
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Exudative Vitreoretinopathy 1	Vitreous hemorrhage, Retinal neovascularization	OMIM:133780
Familial Benign Copper Deficiency	Early balding, Acne	ORPHA:1551
Chromosome Xq27.3-Q28 Duplication Syndrome	Decreased testicular size, Cryptorchidism, Increased circulating gonadotropin level, Sparse body ...	OMIM:300869
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth...	ORPHA:79481
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails...	ORPHA:1071
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse facial hair, Sparse axillary hair	OMIM:608154
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Erythroderma	OMIM:604777
Macular Degeneration, Age-Related, 1	Macular hemorrhage	OMIM:603075
Juvenile Xanthogranuloma	Hyphema	ORPHA:158000
Noonan Syndrome 6	Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairline, Sparse hair	OMIM:613224
Menkes Disease	Sparse hair, Alopecia, Brittle hair	OMIM:309400
Dermatitis, Atopic	Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Conjunctivitis	OMIM:603165
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Hyperconvex nail, Eczema	OMIM:619721
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair	ORPHA:177
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Hematochezia, Vasculitis, Subconjunctival hemorrhage, Vasculitis in the skin	OMIM:617718
Vitreoretinochoroidopathy	Vitreous hemorrhage, Retinal neovascularization	OMIM:193220
Bone Marrow Failure Syndrome 3	Eczema, Pancreatic steatosis, Cryptorchidism, Hyperkeratosis, Nail dystrophy, Small nail, Hyperec...	OMIM:617052
Reactive Arthritis	Pericarditis, Osteomyelitis, Pustule, Enthesitis, Hyperkeratosis, Inflammation of the large intes...	ORPHA:29207
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Hirsutism	OMIM:618087
Uveal Melanoma	Vitreous hemorrhage	ORPHA:39044
Rothmund-Thomson Syndrome	Plantar hyperkeratosis, Sparse eyelashes, Alopecia totalis, Skin rash, Sparse eyebrow, Small nail...	ORPHA:2909
Intellectual Developmental Disorder, Autosomal Dominant 65	Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline	OMIM:619320
Xp22.13P22.2 Duplication Syndrome	Sparse hair, High anterior hairline, Macroorchidism, Polycystic ovaries	ORPHA:284180
Familial Exudative Vitreoretinopathy	Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization	ORPHA:891
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis	OMIM:612281
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Eczema, Cryptorchidism, Hyperkeratosis, Loose anagen hair, Long ey...	OMIM:607721
Lymphoproliferative Syndrome, X-Linked, 2	Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l...	OMIM:300635
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair, Bronchiectasis, Aspiration pneumonia	OMIM:618253
Fanconi Anemia, Complementation Group S	Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Sparse hair	OMIM:617883
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Recurrent p...	ORPHA:47
Holocarboxylase Synthetase Deficiency	Perioral eczema, Alopecia, Eczema, Keratoconjunctivitis	ORPHA:79242
Marburg Hemorrhagic Fever	Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp...	ORPHA:99826
Pachydermoperiostosis	Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnormal hair patter...	ORPHA:2796
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hyperkeratosis, Erythroderma	OMIM:615023
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Recurrent pneumonia, Long eyelashes	OMIM:616069
Tetrasomy 12P	Sparse hair, Sparse eyebrow	ORPHA:884
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sparse hair, Cryptorchidism, Fine hair	OMIM:616817
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Osteoarthritis, Leukonychia, Fine hair, Thin eyebrow,...	OMIM:190350
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse hair, Curly hair, Synophrys, Sparse eyebrow	OMIM:620075
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, Absent eyela...	OMIM:305100
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair	OMIM:620001
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Adrenal hyperplasia, Acne, Hirsutism	OMIM:615830
Johnson Neuroectodermal Syndrome	Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes	ORPHA:2316
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Cryptorchidism, Low posterior hairl...	ORPHA:1340
Cerebrooculofacioskeletal Syndrome 2	Sparse hair	OMIM:610756
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Spar...	ORPHA:217346
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Polycystic ovaries	OMIM:268020
Psoriasis 15, Pustular, Susceptibility To	Psoriasiform dermatitis, Nail dystrophy	OMIM:616106
Idiopathic Aplastic Anemia	Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding	ORPHA:88
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse hair, Sparse eyelashes, Sparse eyebrow	OMIM:224900
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nail pits, Conjunctivi...	OMIM:103285
Braddock-Carey Syndrome 1	Sparse hair, Curly hair	OMIM:619980
Adiposis Dolorosa	Sparse pubic hair, Arthritis, Recurrent skin infections, Sparse axillary hair	ORPHA:36397
Joubert Syndrome 37	Sparse hair, Cryptorchidism, Decreased testicular size	OMIM:619185
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Decreased testicular size, Sparse body hair	ORPHA:2234
Hawkinsinuria	Sparse hair	OMIM:140350
Persistent Hyperplastic Primary Vitreous	Hemorrhage of the eye	ORPHA:91495
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Sparse hair, Synophrys, Low anterior hairline, Fine hair	ORPHA:391408
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:617988
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails	ORPHA:77258
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Molluscum contagiosum, Aplasia of the eccrine sweat glands	OMIM:300291
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia	OMIM:617763
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow	OMIM:190351
Retinoblastoma	Vitreous hemorrhage, Hyphema, Subretinal pigment epithelium hemorrhage	ORPHA:790
Borjeson-Forssman-Lehmann Syndrome	Sparse hair, Cryptorchidism, Decreased testicular size, Thick eyebrow	ORPHA:127
Complete Androgen Insensitivity Syndrome	Acne, Sparse axillary hair, Elevated circulating luteinizing hormone level, Sparse pubic hair, Bi...	ORPHA:99429
Morgagni-Stewart-Morel Syndrome	Osteoarthritis, Acne, Hirsutism	ORPHA:77296
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Atopic dermatitis, Low posterior...	OMIM:115150
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Abnormal hair morphology, Pruritus, Paronychia, Chronic otitis ...	ORPHA:2314
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin	ORPHA:90160
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair	OMIM:614105
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Abnormality of the ovary, Hirsutism, Polycystic ovaries	ORPHA:2795
Incontinentia Pigmenti	Alopecia, Skin rash, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morpholo...	ORPHA:464
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Myositis, Psoriasiform dermatitis, Eczema, Pneumonia, Osteomyelitis, Recurrent skin inf...	ORPHA:37042
Classic Phenylketonuria	Hypopigmentation of hair, Eczema	ORPHA:79254
46,Xy Sex Reversal 6	Hirsutism, Sparse axillary hair	OMIM:613762
Dyskeratosis Congenita	Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, ...	ORPHA:1775
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Cheilitis, Eosinop...	ORPHA:293173
Chromosome 5P13 Duplication Syndrome	Sparse hair, Low posterior hairline	OMIM:613174
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma	OMIM:304790
Neonatal Lupus Erythematosus	Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash	ORPHA:398124
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Hyphema	OMIM:221900
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Leptospirosis	Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage...	ORPHA:509
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey...	ORPHA:294023
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Cheilitis, Conjunctiviti...	ORPHA:37
Ruijs-Aalfs Syndrome	Premature graying of hair, Sparse hair	OMIM:616200
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma	ORPHA:330064
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Absence of Stensen duct, Sparse axillary hair, Decreased res...	OMIM:129900
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Premature graying of hair, Interstitial pneumonitis, Nail dystr...	OMIM:127550
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin	ORPHA:90159
Prolidase Deficiency	Eczema, Crusting erythematous dermatitis, Recurrent pneumonia, Low posterior hairline, Facial hir...	OMIM:170100
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse hair	OMIM:302960
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Paronychia, Erythroderma, Blepharitis, Onychogryposis	OMIM:614328
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Absent eyebrow, Alopecia, Thin fingernail, Eczema, Abnormal eyelash morphology, Abn...	ORPHA:2273
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Patchy alopecia, Iritis	OMIM:109650
Macs Syndrome	Alopecia, Sparse eyebrow, Cryptorchidism, Bronchiectasis, Recurrent aphthous stomatitis, Sparse hair	OMIM:613075
Cutis Laxa, Autosomal Recessive, Type Iiia	Sparse hair, Cryptorchidism	OMIM:219150
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Psoriasiform dermatitis, Eczema, Erythroderma, Thyroiditis, Patchy alopecia, Chronic oral candidi...	OMIM:606367
Scarf Syndrome	Sparse hair, Cryptorchidism, Hypoplastic nipples, Low posterior hairline	ORPHA:3134
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr...	OMIM:192315
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Pustule, Hyperkeratosis, Stomatitis	OMIM:612852
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Nail dystrophy, Spa...	ORPHA:436252
Acute Radiation Syndrome	Hyperkeratosis, Inflammatory abnormality of the skin, Interstitial pneumonitis	ORPHA:454831
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail	OMIM:268130
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hair, Palmoplan...	ORPHA:2710
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair	OMIM:250250
Aredyld Syndrome	Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Nail dysplasia, Sparse hair	OMIM:613026
Biotinidase Deficiency	Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis	OMIM:253260
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Sparse hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Fine hair	OMIM:614091
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
Premature Aging Syndrome, Penttinen Type	Sparse hair, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:601812
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Fine hair, Sparse hair	OMIM:613451
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline	OMIM:250410
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Testicular mass, Uveitis, Hyperkeratosis, Iritis, Sp...	ORPHA:548
Hatipoglu Immunodeficiency Syndrome	Eczema, Cryptorchidism, Atopic dermatitis, Premature graying of hair, Recurrent otitis media, Fai...	OMIM:620331
Mandibuloacral Dysplasia	Sparse hair, Alopecia, Hypoplastic fingernail	ORPHA:2457
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail	ORPHA:974
Noonan Syndrome 14	Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Sparse hair	OMIM:619745
Idiopathic Localized Lipodystrophy	Pruritus, Inflammatory abnormality of the skin	ORPHA:90158
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair	OMIM:608612
Short Syndrome	Sparse hair, Alopecia	ORPHA:3163
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage	OMIM:177850
Scarf Syndrome	Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Sparse hair	OMIM:312830
Agel Amyloidosis	Sparse hair, Keratoconjunctivitis sicca, Nail dystrophy, Pruritus	ORPHA:85448
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Synophrys, Hirsutism, Long eyelashes...	OMIM:615485
Marshall Syndrome	Sparse hair, Osteoarthritis, Sparse eyelashes, Sparse eyebrow	ORPHA:560
Atelis Syndrome 2	Vitreous hemorrhage, Pulmonic stenosis, Supravalvar pulmonary stenosis	OMIM:620185
Osteogenesis Imperfecta, Type Xx	Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow	OMIM:618644
Nablus Mask-Like Facial Syndrome	Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Cryptorchidism, Low an...	OMIM:608156
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Alopecia totalis, Cryptorchidism, Sparse or absent eyelashes, Nail dyspla...	ORPHA:221008
Chime Syndrome	Sparse hair, Hyperkeratosis, Fine hair	ORPHA:3474
Ring Chromosome 12 Syndrome	Acne, Cryptorchidism, Hirsutism, Breast hypoplasia, Dystrophic toenail	ORPHA:1439
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent otitis media, Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia	ORPHA:277
Mullerian Aplasia And Hyperandrogenism	Acne, Hirsutism	OMIM:158330
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Sparse p...	ORPHA:2232
Estrogen Resistance Syndrome	Acne, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotro...	ORPHA:785
Central Retinal Vein Occlusion	Intraretinal hemorrhage, Retinal neovascularization	ORPHA:411527
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse hair, Recurrent pneumonia	OMIM:616449
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:268400
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Cryptorchidism, Fine hair	OMIM:614438
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair	ORPHA:3068
Hamamy Syndrome	Hypoparathyroidism, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Spa...	OMIM:611174
Phacoanaphylactic Uveitis	Hyphema, Retinal arteritis	ORPHA:209959
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Uveitis,...	ORPHA:2108
Congenital Disorder Of Glycosylation, Type Iia	Sparse hair, Thick eyebrow, Long eyelashes, Hirsutism	OMIM:212066
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Sparse eyelashes, Fine hair	OMIM:257850
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Eczema, Synophrys, Sparse hair, Toenail dysplasia, Chronic otitis media, Hirsutism	OMIM:300966
Meige Disease	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Recurrent skin infections	ORPHA:90186
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre...	OMIM:230740
Mixed Connective Tissue Disease	Alopecia, Pericarditis, Skin rash, Myositis, Gastritis, Myocarditis, Arthritis, Keratoconjunctivi...	ORPHA:809
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Alopecia totalis, Cryptorchidism, Sparse or absent eyelashes, Nail dyspla...	ORPHA:221016
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Palmoplantar keratoderma, Nail dystrophy, Onychogryposis	ORPHA:79396
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Cranioectodermal Dysplasia 3	Sparse hair, Broad nail, Short nail, Fine hair	OMIM:614099
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash	OMIM:253270
Monosomy 22	Sparse hair, Synophrys, Aplasia of the thymus, Seborrheic dermatitis	ORPHA:96123
Refractory Anemia With Excess Blasts	Abnormal bleeding, Palpitations, Retinal hemorrhage	ORPHA:86839
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:612199
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Eczema, Cryptorchidism, Low anterior hairline, Low p...	OMIM:601358
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Subungual hyperkeratosis, Alopecia, Absent eyebrow, Sparse scalp hair, Eczema, Recurrent skin inf...	OMIM:308205
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Sparse hair, Coarse hair, Thick hair	ORPHA:357074
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca	OMIM:617321
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,...	ORPHA:33226
Glass Syndrome	Sparse hair, Long eyelashes, Nail dysplasia	OMIM:612313
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Uveitis, Fine hair, Sparse hair, Fragile nails	OMIM:164200
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Coa...	OMIM:617506
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr...	ORPHA:853
Hereditary Acrokeratotic Poikiloderma	Eczema, Pustule, Palmoplantar hyperkeratosis, Keratoconjunctivitis, Nail dystrophy, Dystrophic fi...	ORPHA:2907
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash	OMIM:609628
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail	OMIM:614813
Immunodeficiency 59 And Hypoglycemia	Recurrent skin infections, Herpes simplex encephalitis, Arteritis, Recurrent aphthous stomatitis,...	OMIM:233600
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Sparse hair, Cryptorchidism, Decreased testicular size, Fine hair	ORPHA:251028
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis	ORPHA:79099
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Recurrent pneumonia, Fine ha...	OMIM:234100
Estrogen Resistance	Breast aplasia, Acne, Polycystic ovaries	OMIM:615363
Down Syndrome	Sparse hair	ORPHA:870
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis	ORPHA:363618
Teebi-Shaltout Syndrome	Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair	OMIM:272950
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:222470
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv...	ORPHA:85436
Weaver Syndrome	Deep-set nails, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Sparse hair	OMIM:277590
Intellectual Developmental Disorder, Autosomal Dominant 54	Sparse hair, Thin nail, Eczema	OMIM:617799
Goldberg-Shprintzen Syndrome	Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow	OMIM:609460
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga...	ORPHA:39812
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Brittle hair, Fine hair	OMIM:618891
Ectodermal Dysplasia And Immunodeficiency 2	Sparse hair, Aplasia of the sweat glands, Sparse scalp hair	OMIM:612132
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair	OMIM:615349
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Fine hair, Pyelonephritis, Patchy alopecia, Breast aplas...	OMIM:181270
Scalp-Ear-Nipple Syndrome	Sparse hair, Abnormal fingernail morphology, Breast aplasia, Pyelonephritis	ORPHA:2036
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat...	ORPHA:83617
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Pustule, Synovitis, Abnormal inflammat...	ORPHA:77297
White-Sutton Syndrome	Sparse hair	OMIM:616364
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Palmoplantar hyperkeratosis, Fine hair, Hydrocele testis, Hypoplastic nipp...	OMIM:280000
Short Stature, Microcephaly, And Endocrine Dysfunction	Sparse hair, Cryptorchidism	OMIM:616541
Normosmic Congenital Hypogonadotropic Hypogonadism	Cryptorchidism, Breast hypoplasia, Hypoplasia of the ovary, Sparse body hair, Decreased testicula...	ORPHA:432
Craniolenticulosutural Dysplasia	Sparse hair, Cryptorchidism, Coarse hair, Brittle hair	OMIM:607812
Ablepharon Macrostomia Syndrome	Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia	ORPHA:920
Retinoblastoma	Vitreous hemorrhage	OMIM:180200
Restrictive Dermopathy	Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl...	ORPHA:1662
Mosaic Variegated Aneuploidy Syndrome 2	Sparse hair, Decreased response to growth hormone stimulation test	OMIM:614114
Kindler Epidermolysis Bullosa	Recurrent skin infections, Cheilitis, Hyperkeratosis, Inflammation of the large intestine, Palmop...	ORPHA:2908
Phosphoribosylpyrophosphate Synthetase Superactivity	Sparse hair, Cryptorchidism, Gout	OMIM:300661
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno...	ORPHA:793
Necrobiosis Lipoidica	Inflammatory abnormality of the skin	ORPHA:542592
Cerebellar-Facial-Dental Syndrome	Sparse hair, Cryptorchidism, Sparse eyebrow, Fine hair	ORPHA:444072
Familial Drusen	Macular hemorrhage	ORPHA:75376
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Acne, Testicular adrenal rest tumor, Polycystic ovaries, Hirsutism	ORPHA:90795
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Opitz-Kaveggia Syndrome	Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair	OMIM:305450
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Eczema, Abnormality of the nail	ORPHA:428
Mandibuloacral Dysplasia Progeroid Syndrome	Sparse hair, Sparse eyebrow, Nail dystrophy, Palmoplantar hyperkeratosis	OMIM:619127
Marshall-Smith Syndrome	Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Aspirat...	OMIM:602535
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Abnormal hair morphology, Abnormal hair whorl, Ovarian neoplasm...	ORPHA:79474
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Trichiasis, Acantho...	ORPHA:95455
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Highly arched eyebrow, Cryptorchidism, Fine hair, Low posterior hairline, Sparse hair	OMIM:613563
Lysinuric Protein Intolerance	Sparse hair, Pancreatitis, Fine hair	OMIM:222700
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Pancreatic cysts, Coarse hair, Sparse hair, Chronic otitis media	ORPHA:2750
Kaufman Oculocerebrofacial Syndrome	Sparse hair, Sparse eyebrow	OMIM:244450
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair, Osteomyelitis	ORPHA:565
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Decreased testicular size, Fine hair	OMIM:241080
De Barsy Syndrome	Sparse hair, Cryptorchidism	ORPHA:2962
Cranioectodermal Dysplasia 1	Slow-growing hair, Short nail, Thin nail, Fine hair, Tubulointerstitial nephritis, Sparse hair	OMIM:218330
B4Galt1-Cdg	Inflammatory abnormality of the skin	ORPHA:79332
Mucolipidosis Ii Alpha/Beta	Brittle hair, Sparse eyebrow, Recurrent pneumonia, Sparse hair, Recurrent otitis media	OMIM:252500
Rift Valley Fever	Abnormal bleeding, Hematemesis, Retinal hemorrhage, Melena, Gingival bleeding	ORPHA:319251
Granulomatosis With Polyangiitis	Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage	OMIM:608710
Orofaciodigital Syndrome I	Alopecia, Dry hair, Pancreatic cysts, Ovarian cyst, Sparse hair	OMIM:311200
Generalized Glucocorticoid Resistance Syndrome	Frontal balding, Adrenal hyperplasia, Acne, Hirsutism	ORPHA:786
Glutaryl-Coa Dehydrogenase Deficiency	Subdural hemorrhage, Retinal hemorrhage	ORPHA:25
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Highly arched eyebrow, Hyphema, Pulmonic stenosis, Aortic valve stenosis, Broad eyebrow	ORPHA:261552
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Hyperkeratosis, S...	OMIM:210710
Stuve-Wiedemann Syndrome 1	Sparse hair	OMIM:601559
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair	OMIM:619934
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Sparse eyebrow, Hydrocele testis, Nail dystrophy, Hypoplast...	OMIM:620186
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased testicular size, Elevated circulating luteinizing hormone level, Sparse axillary hair, ...	ORPHA:90796
Cartilage-Hair Hypoplasia	Sparse hair, Sparse eyebrow	ORPHA:175
Chilton-Okur-Chung Neurodevelopmental Syndrome	Sparse scalp hair, Anterior pituitary hypoplasia, Highly arched eyebrow, Sparse eyebrow, Cryptorc...	OMIM:619841
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urinary bladder inflammation, Recurrent skin infections, Nail dystrophy	ORPHA:79403
Cranioectodermal Dysplasia 2	Sparse eyelashes, Cholangitis, Sparse eyebrow, Recurrent pneumonia, Bile duct proliferation, Spar...	OMIM:613610
Kawasaki Disease	Abnormality of nail color, Pericarditis, Skin rash, Myocarditis, Hepatitis, Cheilitis, Arthritis,...	ORPHA:2331
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sparse hair, Frontal hirsutism, Eczema, Pseudohypoparathyroidism	OMIM:617157
Cockayne Syndrome B	Sparse hair, Cryptorchidism, Dry hair, Abnormal hair morphology	OMIM:133540
Lenz-Majewski Hyperostotic Dwarfism	Sparse hair, Cryptorchidism, Anterior pituitary hypoplasia	OMIM:151050
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail	OMIM:200110
Uremic Pruritus	Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections	ORPHA:94059
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Aplasia of the thymus, Rec...	OMIM:102700
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Sparse hair, Cryptorchidism	OMIM:620005
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis	ORPHA:2483
Myhre Syndrome	Sparse hair, Cryptorchidism, Thick eyebrow, Fine hair	OMIM:139210
Cockayne Syndrome A	Sparse hair, Cryptorchidism, Dry hair	OMIM:216400
Neurocardiofaciodigital Syndrome	Sparse hair, Sparse eyebrow	OMIM:619869
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Supernumerary nipple, Cryptorchidism, Patchy alopecia, Nail dystrophy,...	OMIM:305600
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Sparse hair, Cryptorchidism, Nail dysplasia	OMIM:616682
Cockayne Syndrome Type 3	Dry hair, Subdural hemorrhage, Retinal hemorrhage, Premature graying of hair, Cardiomyopathy, Inc...	ORPHA:90324
Costello Syndrome	Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Fragile nails	OMIM:218040
Roberts Syndrome	Sparse hair, Cryptorchidism	ORPHA:3103
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab...	ORPHA:2968
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation	ORPHA:556
Renpenning Syndrome 1	Sparse hair, Brittle hair, Decreased testicular size, Sparse lateral eyebrow	OMIM:309500
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Chronic gastritis, Bilateral cryptorchidism, Recurrent pneumonia, Fragile nail...	OMIM:150230
Tubulointerstitial Nephritis And Uveitis Syndrome	Vitreous hemorrhage	ORPHA:91500
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Cryptorchidism, Loss of eyelashes, Thin eyebrow, Sparse hair	ORPHA:2636
Refractory Celiac Disease	Inflammatory abnormality of the skin	ORPHA:398063
Lipodystrophy, Familial Partial, Type 7	Sparse hair, Sparse scalp hair, Recurrent pancreatitis	OMIM:606721
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Inflammatory abnormality of the skin, Pneumonia	ORPHA:26793
Trichinellosis	Retinal hemorrhage	ORPHA:863
Sympathetic Ophthalmia	Alopecia, Retinal hemorrhage, Poliosis	ORPHA:79098
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Eczema, Cholangitis, Pruritus, Chronic hepatitis, Arthritis...	ORPHA:3260
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Recurrent skin infections, Decreased response to growth hormone stimulation te...	ORPHA:3455
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Eczema, Hepatitis, Bronchiectasis, Enterocolitis, Thyroidit...	ORPHA:391487
Igg4-Related Kidney Disease	Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, ...	ORPHA:449395
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Wrinkly Skin Syndrome	Sparse hair, Cryptorchidism, Short nail, Fragile nails	OMIM:278250
Cockayne Syndrome	Hypertension, Dry hair, Retinal hemorrhage, Fine hair	ORPHA:191
Menke-Hennekam Syndrome 1	Sparse hair, Cryptorchidism, Long eyelashes, Thick eyebrow	OMIM:618332
Branchiooculofacial Syndrome	Supernumerary nipple, Cryptorchidism, Low posterior hairline, Premature graying of hair, White fo...	OMIM:113620
Wrinkly Skin Syndrome	Sparse hair, Cryptorchidism	ORPHA:2834
Pierson Syndrome	Hypertension, Retinal hemorrhage	OMIM:609049
Primrose Syndrome	Sparse scalp hair, Absent facial hair, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Absen...	OMIM:259050
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal neovascularization, Ischemic stroke, Retinal hemorrhage, Cerebral hemorrhage	OMIM:175780
Generalized Arterial Calcification Of Infancy	Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak pulse, Left ventricular systoli...	ORPHA:51608
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Pancreatitis	ORPHA:565612
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter...	OMIM:601803
Roberts-Sc Phocomelia Syndrome	Sparse hair, Cryptorchidism	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 Cd109

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 Cd109.

No publications found that use IMPC mice or data for Cd109.

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MGI Allele	Allele Type	Produced
Cd109^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Cd109^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Cd109^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue

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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