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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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 (595 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		Petechiae, Abnormal bleeding, Purpura, Intracranial hemorrhage, Ecchymosis, Cephalohematoma, Gast...	ORPHA:853

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

Disease	Matching phenotypes	Source
Hypotrichosis 9	Sparse body hair, Sparse scalp hair	OMIM:614237
Hypotrichosis 2	Sparse scalp hair	OMIM:146520
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Hypotrichosis 1	Sparse body hair, Sparse eyebrow, Sparse axillary hair, Sparse pubic hair, Sparse eyelashes, Spar...	OMIM:605389
Alopecia, Congenital	Alopecia, Sparse hair	OMIM:300042
Pili Gemini	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab...	ORPHA:79492
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Hypotrichosis Simplex	Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse hair	ORPHA:55654
Hypotrichosis 10	Sparse body hair, Sparse eyelashes, Sparse eyebrow	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	Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars...	OMIM:615059
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Hypotrichosis 4	Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes	OMIM:146550
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Thin toenail, Sparse hair, Dystrophic toenail	OMIM:614928
Witkop Syndrome	Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair	OMIM:189500
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair	OMIM:616760
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse scalp hair, Sparse axillary hair, Sparse pubic hair, Pruritus, Perifollicular hy...	ORPHA:505
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia Areata 2	Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis	OMIM:610753
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia Universalis Congenita	Absent eyelashes, Alopecia universalis, Absent pubic hair, Absent eyebrow, Absent axillary hair	OMIM:203655
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Hypertrichosis Lanuginosa Congenita	Double eyebrow, Congenital, generalized hypertrichosis	OMIM:145700
Ectodermal Dysplasia 9, Hair/Nail Type	Absent hair, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair, Nail dystrophy, Atrichia	OMIM:614931
Odonto-Onycho Dysplasia-Alopecia Syndrome	Sparse body hair, Alopecia, Sparse eyebrow, Hypoplastic toenails, Abnormal fingernail morphology,...	ORPHA:2722
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Reduced terminal:vellus ratio, Sparse hair, 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, Alopecia universalis, Patchy alopecia	ORPHA:701
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Pseudopili Annulati	Abnormality of hair texture, Abnormality of the scalp hair	OMIM:613241
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, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:617756
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Sparse axillary hair, Sparse pubic hair, Abnormality of the nail, Onychogrypos...	ORPHA:1808
Hypertrichosis, Congenital Generalized	Hirsutism, Congenital, generalized hypertrichosis	OMIM:307150
Trichodysplasia-Xeroderma Syndrome	Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ...	ORPHA:3361
Alopecia Areata 1	Trachyonychia, Alopecia universalis, Alopecia totalis, Nail pits, Patchy alopecia	OMIM:104000
Dissecting Cellulitis Of The Scalp	Abnormal hair morphology, Pruritus, Recurrent skin infections	ORPHA:345
Hypotrichosis 6	Sparse eyebrow, Pili torti, Brittle hair, Sparse hair, Sparse eyelashes, Pruritus, Follicular hyp...	OMIM:607903
Hypotrichosis 12	Dry hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse or absent eyelashes, Slow-growin...	OMIM:615885
Hidrotic Ectodermal Dysplasia	Brittle scalp hair, Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Generaliz...	ORPHA:189
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Sparse body hair, Alopecia, Dystrophic toenail, Alopecia of scalp, Onychogryposis of toenails	OMIM:617294
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Hair Defect With Photosensitivity And Mental Retardation	Sparse eyebrow, Brittle hair, Coarse hair, Sparse eyelashes, Sparse hair	OMIM:234030
Aredyld	Generalized hypotrichosis	OMIM:207780
Monilethrix	Alopecia, Brittle hair, Nail dysplasia, Abnormality of hair texture, Sparse hair, Nail dystrophy	OMIM:158000
Ectodermal Dysplasia 5, Hair/Nail Type	Absent toenail, Sparse scalp hair, Dystrophic fingernails	OMIM:614927
Ectodermal Dysplasia 4, Hair/Nail Type	Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O...	OMIM:602032
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Ichthyosis Hystrix Of Curth-Macklin	Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Recurrent skin infections	ORPHA:79503
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Hypotrichosis 14	Sparse body hair, Sparse pubic hair, Short eyelashes, Sparse hair, Absent axillary hair	OMIM:618275
Hypotrichosis 8	Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h...	OMIM:278150
Hypotrichosis 7	Sparse body hair, Sparse eyebrow, Sparse scalp hair, Brittle hair, Sparse axillary hair, Abnormal...	OMIM:604379
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Abnormal eyelash m...	ORPHA:573
Kerion Celsi	Recurrent skin infections, Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormal...	ORPHA:499
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Hypotrichosis Simplex Of The Scalp	Abnormality of the axillary hair, Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of ...	ORPHA:90368
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dysplasia, Sparse hair, Nail dystrophy	OMIM:211390
Hypotrichosis 13	Abnormal sweat gland morphology, Sparse eyelashes, Sparse hair, Woolly hair	OMIM:615896
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality	Congenital alopecia totalis, Alopecia universalis	OMIM:104130
Palmoplantar Keratoderma And Woolly Hair	Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyelashes	OMIM:616099
Moynahan Syndrome	Alopecia, Hyperkeratosis, Sparse hair	ORPHA:2574
Rothmund-Thomson Syndrome, Type 1	Absent eyelashes, Recurrent otitis media, Thin nail, Absent eyebrow, Hyperkeratosis, Sparse hair,...	OMIM:618625
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Sacral hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertrichosis, Thoracic hypertri...	OMIM:117850
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythemat...	ORPHA:79147
Marie Unna Hereditary Hypotrichosis	Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Coarse hair, Sparse or absent eye...	ORPHA:444
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Pruritus, Nail dystrophy, Plantar hyperkeratosis	OMIM:616487
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Brittle hair, Epidermal hyperkeratosis, Plantar hyperkerat...	OMIM:104100
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Olmsted Syndrome 2	Pruritus, Alopecia universalis, Palmoplantar hyperkeratosis, Woolly hair, Parakeratosis, Hyperker...	OMIM:619208
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse body hair, Sparse scalp hair, Pruritus, Eczema, Sparse eyelashes, Palmoplantar keratoderma...	OMIM:618535
Verrucous Hemangioma	Hyperkeratotic papule, Inflammatory abnormality of the skin	ORPHA:464318
Uncombable Hair Syndrome	Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology	ORPHA:1410
Schopf-Schulz-Passarge Syndrome	Apocrine hidrocystoma, Small nail, Poroma, Thin nail, Onycholysis, Ridged nail, Palmoplantar kera...	OMIM:224750
Woolly Hair	Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ...	ORPHA:170
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Hypotrichosis And Recurrent Skin Vesicles	Sparse body hair, Sparse eyebrow, Angular cheilitis, Sparse scalp hair, Leukonychia, Sparse axill...	OMIM:613102
Trichodental Dysplasia	Slow-growing hair, Sparse hair, Fine hair, Brittle hair	OMIM:601453
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse body hair, Sparse scalp hair, Absent eyelashes, Trichodysplasia, Supernumerary nipple, Abn...	ORPHA:1809
Crandall Syndrome	Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Brittle hair, Fine hair	ORPHA:202
Parc Syndrome	Absent eyelashes, Alopecia, Absent eyebrow	OMIM:600331
Ulerythema Ophryogenesis	Hyperkeratotic papule, Sparse lateral eyebrow, Contact dermatitis, Follicular hyperkeratosis, Acne	ORPHA:3406
Quinquaud Folliculitis Decalvans	Scarring alopecia of scalp, Pustule, Patchy alopecia, Recurrent skin infections, Abnormal hair mo...	ORPHA:346
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse body hair, Sparse eyebrow, Curly hair, Pruritus, Pili torti, Brittle hair, Curly eyelashes...	OMIM:602400
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis, Pruritus, Nail dystrophy	OMIM:131850
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse body hair, Sparse scalp hair, Alopecia universalis, Abnormal eyelash morphology	ORPHA:1008
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyebrow, Sparse scalp hair, Absent eyelashes, Cobblestone-like hyperkeratosis, Punctate ke...	OMIM:602540
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Abnormal toenai...	ORPHA:1818
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Widow's peak, Thick eyebrow, Sparse hair, Atopic dermatitis	OMIM:606242
Olmsted Syndrome 1	Pruritus, Orthokeratosis, Alopecia universalis, Parakeratosis, Nail dysplasia, Hyperparakeratosis...	OMIM:614594
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Follicular hyperkeratosis, Sparse hair	OMIM:613576
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Fingernail dysplasia, Ridged fingernail, Onychogryposis of fingernail, Palmoplantar ker...	ORPHA:2251
Choroidal Atrophy-Alopecia Syndrome	Supernumerary nipple, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, Ung...	ORPHA:1433
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Perifolliculitis	OMIM:613737
Pili Torti-Onychodysplasia Syndrome	Sparse body hair, Alopecia, Brittle hair, Absent eyelashes, Alopecia universalis, Trichodysplasia...	ORPHA:2890
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Palmoplantar hyperkeratosis, Parakeratosis, Nail dysplasia, Erythroderma, Sparse hair, ...	OMIM:242300
Erosive Pustular Dermatosis Of The Scalp	Abnormal hair morphology, Scarring alopecia of scalp, Pustule	ORPHA:222
Immunodeficiency 51	Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos...	OMIM:613953
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent skin infections, Orthokeratosis, Psoriasiform dermatitis, Erythroderma, Acantholysis, P...	OMIM:615508
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Scarring alopecia of scalp, Palmoplantar keratoderma, Anonychia, Nail dystrophy	ORPHA:79402
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse eyebrow, Fine hair, Sparse hair, Sparse eyelashes, Ridged nail, Slow-growing hair	OMIM:129490
Uncombable Hair Syndrome 3	Pili canaliculi, Curly hair, Uncombable hair, Brittle hair	OMIM:617252
Schöpf-Schulz-Passarge Syndrome	Alopecia, Aplasia/Hypoplasia of the eyebrow, Palmoplantar keratoderma, Sparse hair, Ovarian neoplasm	ORPHA:50944
Retinopathy Of Prematurity	Vitreous hemorrhage	ORPHA:90050
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyelashes, Palmoplantar hyperkeratosis, Alopecia of scalp, Absent eyebrow, Sparse hair, Dy...	OMIM:604536
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Perifolliculitis, Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation, Foll...	OMIM:613736
Erythrokeratodermia Variabilis Et Progressiva 2	Palmoplantar keratoderma, Hypertrichosis	OMIM:617524
Idiopathic Trachyonychia	Toenail dysplasia, Atopic dermatitis, Fingernail dysplasia, Circumungual hyperkeratosis, Nail pit...	ORPHA:79153
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Nail dystrophy, Tiger tail banding, Sparse hair	OMIM:619692
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Hypoplastic sweat glands, Trichorrhexis nodosa, Sparse lateral eyebrow, Orthokeratosis, Acne inve...	OMIM:617337
Hypotrichosis 5	Alopecia, Thin eyebrow, Abnormality of the nail, Abnormal sweat gland morphology, Absent pubic ha...	OMIM:612841
Proliferating Trichilemmal Cyst	Sparse scalp hair	ORPHA:492
Erythrokeratodermia Variabilis	Alopecia, Abnormal testis morphology, Skin rash, Abnormality of the nail, Patchy palmoplantar hyp...	ORPHA:317
Pili Torti	Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma...	ORPHA:2889
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Coarse hair, Hyperkeratosis, Sparse hair, Brittle hair	ORPHA:1883
Bazex-Dupré-Christol Syndrome	Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, Coarse hair, Sparse hair, Sp...	ORPHA:113
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Alopecia, Ridged nail, Nail dystrophy, Nail pits	OMIM:601705
Classic Mycosis Fungoides	Alopecia, Pruritus, Skin rash, Eczema, Abnormality of the nail, Hyperkeratosis	ORPHA:2584
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Alopecia Antibody Deficiency	Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Abnormal eyelash morphology	ORPHA:1006
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Hypotrichosis 3	Abnormal sweat gland morphology, Sparse scalp hair, Abnormal eyelash morphology, Abnormality of t...	OMIM:613981
Lamellar Ichthyosis	Aplasia/Hypoplasia of the eyebrow, Pruritus, Abnormality of the nail, Erythroderma, Hyperkeratosi...	ORPHA:313
Pseudopelade Of Brocq	Alopecia, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Recurren...	ORPHA:129
Bathing Suit Ichthyosis	Alopecia, Palmoplantar hyperkeratosis, Parakeratosis, Erythroderma, Sparse hair, Nail dystrophy	ORPHA:100976
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Palmar pruritus, Palmoplantar keratoderma, Atopic dermatitis	ORPHA:498359
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Conjunctivitis, Sparse eyebrow, Folliculitis, Keratitis, Scarring alopecia of scalp, Follicular h...	OMIM:308800
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Conjunctivitis, Sparse eyebrow, Alopecia, Folliculitis, Scarring alopecia of scalp, Nail dysplasi...	OMIM:612843
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Follicular hyperkeratosis, Brittle hair	OMIM:618546
Pityriasis Rubra Pilaris	Pruritus, Eczema, Abnormality of the nail, Pustule, Subungual hyperkeratosis, Erythroderma, Palmo...	ORPHA:2897
Pachyonychia Congenita 2	Dry hair, Sparse eyebrow, Sparse scalp hair, Angular cheilitis, Folliculitis, Palmoplantar hyperk...	OMIM:167210
Woolly Hair, Autosomal Dominant	Dry hair, Abnormal eyebrow morphology, Woolly hair, Abnormal eyelash morphology, Coarse hair, Slo...	OMIM:194300
Focal Facial Dermal Dysplasia 3, Setleis Type	Absent lower eyelashes, Distichiasis, Sparse hair, Low anterior hairline	OMIM:227260
Olmsted Syndrome, X-Linked	Palmoplantar hyperkeratosis, Alopecia totalis, Parakeratosis, Hyperkeratosis, Subungual hyperkera...	OMIM:300918
Bazex Syndrome	Trichorrhexis nodosa, Pili torti, Acne inversa, Eczema, Coarse hair, Trichoepithelioma, Sparse ha...	OMIM:301845
Ectodermal Dysplasia 7, Hair/Nail Type	Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Brittle hair, Onycholysis, Abnor...	OMIM:614929
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Absent eyelashes, Distichiasis, Sparse hair, Low anterior hairline	ORPHA:79133
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Sparse eyebrow, Progressive hypotrichosis, Brittle hair, Palmoplantar hyperkeratosis, Nail dyspla...	OMIM:225060
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Oliver-Mcfarlane Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Long eyebrows, Long eyelashes, C...	OMIM:275400
Hereditary Mucoepithelial Dysplasia	Alopecia, Hyperkeratosis, Sparse hair, 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
Chilblain Lupus	Pruritis on hand, Malar rash, Inflammatory abnormality of the skin, Discoid lupus rash, Skin rash...	ORPHA:90280
Retinal Capillary Malformation	Hyphema, Vitreous hemorrhage	ORPHA:71213
Syndromic X-Linked Intellectual Disability 7	Sparse body hair, Cryptorchidism	ORPHA:85274
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Pili torti, Brittle hair, Fine hair, Hyperkeratosis	ORPHA:1573
Papillon-Lefèvre Syndrome	Sparse body hair, Periodontitis, Chronic furunculosis, Palmoplantar hyperkeratosis, Abnormality o...	ORPHA:678
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus	OMIM:618531
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse body hair, Sparse hair, Abnormal fingernail morphology, Eczema	ORPHA:1810
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Alopecia of scalp, Erythroderma, Pruritus, Follicular hyperkeratosis	OMIM:608649
Congenital Non-Bullous Ichthyosiform Erythroderma	Alopecia, Pruritus, Abnormality of the nail, Erythroderma, Keratitis, Palmoplantar keratoderma	ORPHA:79394
Pilodental Dysplasia With Refractive Errors	Sparse scalp hair, Brittle hair, Brittle scalp hair, Abnormality of the nail, Follicular hyperker...	OMIM:262020
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Porphyria Cutanea Tarda, Type I	Hypertrichosis, Eczema	OMIM:176090
Ectodermal Dysplasia-Syndactyly Syndrome 1	Alopecia, Hypoplastic toenails, Sparse scalp hair, Small nail, Pili torti, Palmar hyperkeratosis,...	OMIM:613573
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism, Acne	OMIM:604931
Mal De Meleda	Nonepidermolytic palmoplantar hyperkeratosis, Superficial dermal perivascular inflammatory infilt...	ORPHA:87503
Cardiofaciocutaneous Syndrome 2	Curly hair, Absent eyebrow, Sparse hair, Fine hair	OMIM:615278
Skin Fragility-Woolly Hair Syndrome	Alopecia, Sparse eyebrow, Palmoplantar hyperkeratosis, Woolly hair, Acantholysis, Sparse eyelashe...	OMIM:607655
Benign Cephalic Histiocytosis	Skin rash, Inflammatory abnormality of the skin	ORPHA:157997
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyebrow, Orthokeratosis, Sclerosing cholangitis, Parakeratosis, Bile duct prolif...	OMIM:607626
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Ichthyosis With Confetti	Palmoplantar hyperkeratosis, Erythroderma, Pruritus, Hypoplastic nipples, Hypertrichosis	OMIM:609165
Coffin-Siris Syndrome 8	Sparse scalp hair, Long eyelashes, Eczema, Cryptorchidism, Thick eyebrow, Hypertrichosis	OMIM:618362
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Posterior retinal neovascularization, Vitreous hemorrhage	OMIM:193235
Acquired Ichthyosis	Palmoplantar keratoderma, Pruritus, Hyperkeratosis, Recurrent skin infections	ORPHA:454
Retinoschisis 1, X-Linked, Juvenile	Vitreous hemorrhage	OMIM:312700
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair	ORPHA:2985
Lelis Syndrome	Sparse lateral eyebrow, Yellow nails, Absent lower eyelashes, Palmoplantar hyperkeratosis, Abnorm...	ORPHA:140936
Dermoodontodysplasia	Sparse body hair, Toenail dysplasia, Sparse scalp hair, Fingernail dysplasia, Trichodysplasia	ORPHA:1660
Lichen Planopilaris	Alopecia, Pruritus, Hepatitis, Abnormal fingernail morphology, Onycholysis, Hyperkeratosis	ORPHA:525
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Atopic dermatitis, Pneumonia, Nail dystrophy	OMIM:618806
Oligodontia-Colorectal Cancer Syndrome	Sparse body hair, Sparse scalp hair, Sparse axillary hair, Absent eyebrow, Short eyelashes	OMIM:608615
Xq27.3Q28 Duplication Syndrome	Sparse body hair, Cryptorchidism, Decreased testicular size	ORPHA:261483
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis	ORPHA:79148
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Conjunctivitis, Alopecia, Fragile nails, Erythroderma, Palmoplantar keratoderma, Sparse hair	OMIM:242150
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Psoriasis 14, Pustular	Oligoarthritis, Cholangitis, Parakeratosis, Pustule, Psoriasiform dermatitis, Nail dystrophy	OMIM:614204
Netherton Syndrome	Sparse eyebrow, Sparse scalp hair, Brittle hair, Allergic rhinitis, Brittle scalp hair, Parakerat...	OMIM:256500
Ichthyosis, Congenital, Autosomal Recessive 10	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma	OMIM:615024
Bjornstad Syndrome	Alopecia, Dry hair, Pili torti, Brittle hair, Coarse hair, Hair shafts flattened at irregular int...	OMIM:262000
Lipoid Proteinosis	Alopecia of scalp, Pustule, Hyperkeratosis, Acne	ORPHA:530
Odontoonychodermal Dysplasia	Sparse body hair, Dystrophic toenail, Dry hair, Sparse scalp hair, Sparse eyebrow, Orthokeratosis...	OMIM:257980
Ectodermal Dysplasia-Blindness Syndrome	Keratoconjunctivitis sicca, Fine hair, Abnormal fingernail morphology, Hyperkeratosis, Sparse hair	ORPHA:1806
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair	ORPHA:181
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Trichothiodystrophy 8, Nonphotosensitive	Sparse eyebrow, Trichorrhexis nodosa, Eczema, Woolly hair, Sparse hair	OMIM:619691
Chondrodysplasia Punctata, Autosomal Dominant	Coarse hair, Sparse hair, Hyperkeratosis with erythema	OMIM:118650
Mucoepithelial Dysplasia, Hereditary	Alopecia, Chronic monilial nail infection, Keratoconjunctivitis, Chronic mucocutaneous candidiasi...	OMIM:158310
Retinal Arteries, Tortuosity Of	Retinal hemorrhage	OMIM:180000
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Alopecia, Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Recurrent sinusitis, Eczema, R...	OMIM:618282
Lessel-Kubisch Syndrome	Sparse pubic hair, Premature graying of hair	OMIM:618681
Trichothiodystrophy 1, Photosensitive	Small nail, Tiger tail banding, Pili torti, Trichorrhexis nodosa, Brittle hair, Keratoconjunctivi...	OMIM:601675
Hypohidrotic Ectodermal Dysplasia	Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized hypopigmentation of hair, In...	ORPHA:238468
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse body hair, Sparse eyebrow, Sparse scalp hair, Scarring alopecia of scalp, Sparse eyelashes	ORPHA:59303
Nicolaides-Baraitser Syndrome	Alopecia, Abnormal testis morphology, Long eyelashes, Eczema, Abnormal hair pattern, Highly arche...	ORPHA:3051
Incontinentia Pigmenti	Atrophic, patchy alopecia, Alopecia, Maculopapular exanthema, Breast aplasia, Supernumerary nippl...	OMIM:308300
Eem Syndrome	Sparse body hair, Sparse scalp hair, Absent eyebrow	ORPHA:1897
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Sparse axillary hair, Sparse pubic hair	OMIM:146110
Pili Torti, Early-Onset	Dry hair, Pili torti, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and...	OMIM:261900
Congenital Disorder Of Glycosylation, Type Im	Sparse eyebrow, Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Hyperkeratosis	OMIM:610768
Erythrokeratodermia Variabilis Et Progressiva 1	Patchy palmoplantar hyperkeratosis, Generalized hyperkeratosis, Erythroderma	OMIM:133200
Familial Male-Limited Precocious Puberty	Abnormal hair morphology, Macroorchidism, Acne	ORPHA:3000
Trichohepatoenteric Syndrome 2	Trichorrhexis nodosa, Brittle hair, Woolly hair, Chronic hepatitis, Uncombable hair, Colitis, Spa...	OMIM:614602
Kid Syndrome	Acne inversa, Keratoconjunctivitis sicca, Punctate keratitis, Recurrent cutaneous abscess formati...	ORPHA:477
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Dystrophic toenail, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Recurrent loss...	ORPHA:158673
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Sparse eyebrow, Alopecia, Erysipelas, Nail dysplasia, Sparse eyelashes	OMIM:615704
Cardiofaciocutaneous Syndrome 4	Curly hair, Decreased response to growth hormone stimulation test, Palmoplantar hyperkeratosis, A...	OMIM:615280
Acrokeratosis Verruciformis Of Hopf	Leukonychia, Parakeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, A...	ORPHA:79151
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Hirsutism, Acne	OMIM:612847
Gand Syndrome	Sparse hair	OMIM:615074
Hydrocephalus-Obesity-Hypogonadism Syndrome	Absent facial hair, Sparse facial hair, Low posterior hairline	ORPHA:2183
Ifap Syndrome 2	Angular cheilitis, Keratoconjunctivitis sicca, Keratitis, Sparse hair, Nail dystrophy, Atrichia, ...	OMIM:619016
Localized Junctional Epidermolysis Bullosa	Atrophic, patchy alopecia, Dystrophic toenail, Sparse axillary hair, Scarring alopecia of scalp, ...	ORPHA:251393
Alopecia-Intellectual Disability Syndrome	Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair	ORPHA:2850
Rapp-Hodgkin Syndrome	Sparse eyebrow, Small nail, Supernumerary nipple, Fine hair, Onychogryposis, Decreased number of ...	OMIM:129400
Naxos Disease	Sparse body hair, Sparse eyebrow, Curly hair, Woolly hair, Onycholysis, Diffuse palmoplantar hype...	OMIM:601214
Ectodermal Dysplasia-Skin Fragility Syndrome	Pruritus, Alopecia universalis, Chapped lip, Recurrent pneumonia, Sparse hair, Recurrent skin inf...	ORPHA:158668
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair, Cryptorchidism	OMIM:273390
Focal Facial Dermal Dysplasia Type Iii	Sparse lateral eyebrow, Abnormal hair pattern, Highly arched eyebrow, Sparse lower eyelashes, Dis...	ORPHA:1807
Trichothiodystrophy 4, Nonphotosensitive	Small nail, Trichorrhexis nodosa, Brittle hair, Keratoconjunctivitis sicca, Woolly hair, Nail dys...	OMIM:234050
Congenital Disorder Of Glycosylation, Type Iq	Hyperkeratosis, Hypertrichosis, Eczema	OMIM:612379
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Atrophic gastritis, Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Recurrent...	OMIM:616576
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Long eyelashes, Hirsutism, Thick eyebrow, Sparse hair, Low anterior hairline	OMIM:616819
Peeling Skin Syndrome 4	Palmoplantar keratoderma, Hyperkeratosis, Nail dystrophy, Orthokeratosis	OMIM:607936
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Dystrophic toenail, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse lateral eyebrow, Pili tor...	ORPHA:3253
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal fingernail morphology, Alopecia, Palmoplantar keratoderma, Sparse hair	ORPHA:659
Intellectual Developmental Disorder, Autosomal Recessive 5	Synophrys, Thick eyebrow, Sparse hair, Eczema	OMIM:611091
Sézary Syndrome	Alopecia, Pruritus, Erythroderma, Palmoplantar keratoderma, Nail dystrophy	ORPHA:3162
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritis on hand, Pruritus on foot, Parakeratosis, Pruritis on abdomen, Palmar pruritus, Pruritis...	ORPHA:64745
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse body hair, Conjunctivitis, Absent eyelashes, Supernumerary nipple, Hyperconvex nail, Patch...	OMIM:106260
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent hair, Absent nipple, Sparse hair, Brittle hair	OMIM:614940
Trichotillomania	Alopecia	OMIM:613229
Filippi Syndrome	Hypertrichosis, Frontal hirsutism, Sparse hair, Cryptorchidism	OMIM:272440
Central Precocious Puberty	Abnormality of secondary sexual hair, Increased circulating gonadotropin level, Acne	ORPHA:759
Prolidase Deficiency	Pruritus, Crusting erythematous dermatitis, Abnormal fingernail morphology, White forelock, Hirsu...	ORPHA:742
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
Zinc Deficiency, Transient Neonatal	Alopecia, Eczema	OMIM:608118
Exudative Vitreoretinopathy 4	Vitreous hemorrhage	OMIM:601813
Blepharocheilodontic Syndrome 1	High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Sparse hair	OMIM:119580
Even-Plus Syndrome	Synophrys, Sparse hair, Atopic dermatitis, Highly arched eyebrow	OMIM:616854
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Angular cheilitis, Pruritus, Leukonychia, Onycholysis, Punctate palmoplantar hyperkeratosis, Acan...	OMIM:616295
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse body hair, Sparse scalp hair, Sparse lateral eyebrow, Rhinitis, Absent eyelashes, Absent n...	OMIM:614941
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Retinal hemorrhage, Vitreous hemorrhage, Cerebral hemorrhage, Intracranial hemorrhage, Diffuse al...	ORPHA:464321
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Absent hair, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Abnormality of the nail, Ab...	ORPHA:1010
Crimean-Congo Hemorrhagic Fever	Hypotension, Hemoperitoneum, Tachycardia, Abnormal left ventricular function, Subdural hemorrhage...	ORPHA:99827
Bone Marrow Failure Syndrome 3	Small nail, Aplasia/Hypoplasia of the eyebrow, Eczema, Cryptorchidism, Hyperkeratosis, Sparse hai...	OMIM:617052
Progeroid Syndrome, Petty Type	Brittle hair, Long eyelashes in irregular rows, Abnormality of the nail, Generalized hirsutism, A...	ORPHA:2963
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Subconjun...	ORPHA:464329
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Hyperkeratosis, Sparse hair, Abnormal toenail morphology	ORPHA:1005
Androgen Insensitivity Syndrome	Sparse axillary hair, Absent facial hair, Sparse pubic hair	OMIM:300068
Tooth Agenesis, Selective, 4	Sparse body hair, Dystrophic toenail, Sparse eyebrow, Sparse scalp hair, Palmar hyperkeratosis, S...	OMIM:150400
Noonan Syndrome 8	Hyperkeratosis, Curly hair, Eczema, Cryptorchidism	OMIM:615355
Trichothiodystrophy 5, Nonphotosensitive	Sparse eyebrow, Tiger tail banding, Brittle hair, Decreased testicular size, Reduced hair sulfur ...	OMIM:300953
Poikiloderma With Neutropenia	Conjunctivitis, Sparse eyebrow, Sparse lateral eyebrow, Skin rash, Recurrent sinusitis, Plantar h...	OMIM:604173
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Orthokeratosis	OMIM:618084
Rare Cutaneous Lupus Erythematosus	Malar rash, Leukonychia, Nail bed telangiectasia, Nail bed hemorrhage, Crusting erythematous derm...	ORPHA:535
Anauxetic Dysplasia 2	Nail dysplasia, Small nail, Sparse hair	OMIM:617396
Centrifugal Lipodystrophy	Lymphadenitis, Alopecia, Inflammatory abnormality of the skin	ORPHA:90156
Juvenile Idiopathic Arthritis	Skin rash, Arthritis, Abnormality of the nail, Nail pits, Abnormal fingernail morphology, Uveitis...	ORPHA:92
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse body hair, Alopecia, Sparse scalp hair, Absent eyelashes, Absent eyebrow	ORPHA:69735
Netherton Syndrome	Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Skin rash, Eczema, Fine hair, Erythroder...	ORPHA:634
Hemorrhagic Fever-Renal Syndrome	Hypotension, Petechiae, Intracranial hemorrhage, Internal hemorrhage, Ecchymosis, Shock, Epistaxi...	ORPHA:340
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Hyperkeratosis, Erythroderma	ORPHA:312
Lujo Hemorrhagic Fever	Hypotension, Myocarditis, Purpura, Ecchymosis, Shock, Excessive bleeding after a venipuncture, Su...	ORPHA:319213
Peeling Skin Syndrome 1	Brittle hair, Onycholysis, Erythroderma, Pruritus, Nail dystrophy	OMIM:270300
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema	OMIM:617443
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse eyebrow, Sparse hair	OMIM:619989
Sting-Associated Vasculopathy, Infantile-Onset	Malar rash, Periungual erythema, Skin rash, Nailfold capillary tortuosity, Myositis, Pustule, Pus...	OMIM:615934
Cahmr Syndrome	Generalized hypertrichosis	OMIM:211770
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage	OMIM:264420
Eales Disease	Vitreous hemorrhage, Ischemic stroke, Transient ischemic attack, Peripheral retinal neovasculariz...	ORPHA:40923
Milroy Disease	Toenail dysplasia, Hyperkeratosis, Hydrocele testis, Erysipelas	ORPHA:79452
Chilblain Lupus 1	Chilblains, Abnormality of the nail	OMIM:610448
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Sparse hair, Nail dystrophy	OMIM:616353
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pustule, Predominantly de...	ORPHA:284426
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Aplasia/Hypoplasia of the eyebrow, Sparse hair	ORPHA:261304
Psoriasis 2	Parakeratosis, Hyperkeratosis, Psoriasiform dermatitis	OMIM:602723
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Small nail, Hypoplastic nipples, Sparse hair	OMIM:273400
Cranioectodermal Dysplasia	Abnormal fingernail morphology, Sparse hair, Abnormal toenail morphology	ORPHA:1515
Spondyloepimetaphyseal Dysplasia With Hypotrichosis	Sparse hair	OMIM:183849
Cronkhite-Canada Syndrome	Sparse body hair, Alopecia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Hypoplastic to...	ORPHA:2930
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Lacunar stroke, Retinal hemorrhage, Supraventricular arrhythmia, Raynaud phenomenon	OMIM:611773
Onychotrichodysplasia And Neutropenia	Curly hair, Trichorrhexis nodosa, Sparse pubic hair, Hypoplastic fingernail, Concave nail, Curly ...	OMIM:258360
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Müllerian Aplasia And Hyperandrogenism	High anterior hairline, Synophrys, Abnormality of the ovary, Frontal balding, Hirsutism, Facial h...	ORPHA:247768
Exudative Vitreoretinopathy 1	Retinal neovascularization, Vitreous hemorrhage	OMIM:133780
Desbuquois Syndrome	Sparse hair, Abnormal eyelash morphology	ORPHA:1425
Acrofacial Dysostosis, Palagonia Type	Sparse lateral eyebrow, Pili torti, Thin eyebrow, Sparse eyelashes, Sparse hair, Low anterior hai...	ORPHA:1787
Chronic Mucocutaneous Candidiasis	Pruritus, Hepatitis, Skin rash, Abnormality of the nail, Abnormal fingernail morphology, Broad na...	ORPHA:1334
Cardiocranial Syndrome, Pfeiffer Type	Sparse hair, Abnormal hair whorl, Cryptorchidism	ORPHA:2872
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair, Increased circulating gonadotropin level, Decreased testicular size, Cryptorchi...	OMIM:300869
Iga Pemphigus	Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess, Pustule, Acantholys...	ORPHA:555905
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Familial Benign Copper Deficiency	Early balding, Acne	ORPHA:1551
2Q32Q33 Microdeletion Syndrome	Decreased testicular size, Sparse hair, Fine hair	ORPHA:251019
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Dystrophic fingernails, Dystrophic toenail, Sparse eyebrow, Supernumerary nipple, Hyperconvex nai...	ORPHA:1071
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis	OMIM:604777
Pemphigus Foliaceus	Pruritus, Crusting erythematous dermatitis, Pustule, Erythroderma, Acantholysis, Psoriasiform der...	ORPHA:79481
Juvenile Xanthogranuloma	Hyphema	ORPHA:158000
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse axillary hair, Sparse facial hair	OMIM:608154
Macular Degeneration, Age-Related, 1	Macular hemorrhage	OMIM:603075
Menkes Disease	Alopecia, Sparse hair, Brittle hair	OMIM:309400
Dermatitis, Atopic	Conjunctivitis, Allergic rhinitis, Eczema, Recurrent skin infections, Pruritus, Atopic dermatitis	OMIM:603165
Vitreoretinochoroidopathy	Retinal neovascularization, Vitreous hemorrhage	OMIM:193220
Noonan Syndrome 6	Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairline, Sparse hair	OMIM:613224
Reactive Arthritis	Conjunctivitis, Recurrent aphthous stomatitis, Osteomyelitis, Enthesitis, Arthritis, Abnormality ...	ORPHA:29207
Rhizomelic Chondrodysplasia Punctata	Sparse body hair, Alopecia	ORPHA:177
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Eczema, Hyperconvex nail	OMIM:619721
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Subconjunctival hemorrhage, Hematochezia, Vasculitis in the skin, Vasculitis	OMIM:617718
Rothmund-Thomson Syndrome	Sparse eyebrow, Malar rash, Small nail, Skin rash, Alopecia totalis, Plantar hyperkeratosis, Abno...	ORPHA:2909
Uveal Melanoma	Vitreous hemorrhage	ORPHA:39044
Familial Exudative Vitreoretinopathy	Retinal neovascularization, Macular telangiectasia, Vitreous hemorrhage	ORPHA:891
Lymphoproliferative Syndrome, X-Linked, 2	Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the large intestine, Colitis, Recurren...	OMIM:300635
Xp22.13P22.2 Duplication Syndrome	High anterior hairline, Polycystic ovaries, Sparse hair, Macroorchidism	ORPHA:284180
Holocarboxylase Synthetase Deficiency	Perioral eczema, Alopecia, Eczema, Keratoconjunctivitis	ORPHA:79242
X-Linked Agammaglobulinemia	Conjunctivitis, Alopecia, Osteomyelitis, Hepatitis, Skin rash, Arthritis, Recurrent cutaneous abs...	ORPHA:47
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Eczema, Cryptorchidism, Hyperke...	OMIM:607721
Marburg Hemorrhagic Fever	Hypotension, Hypovolemia, Petechiae, Abnormal bleeding, Bruising susceptibility, Internal hemorrh...	ORPHA:99826
Intellectual Developmental Disorder, Autosomal Dominant 65	Synophrys, Thin eyebrow, Sparse hair, Low posterior hairline	OMIM:619320
Johnson Neuroectodermal Syndrome	Alopecia, Absent eyelashes, Decreased testicular size, Absent eyebrow, Sparse hair	OMIM:147770
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Hirsutism, Sparse hair	OMIM:618087
Pachydermoperiostosis	Osteomyelitis, Arthritis, Abnormal fingernail morphology, Abnormal hair quantity, Abnormal hair p...	ORPHA:2796
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Parakeratosis, Hyperkeratosis, Erythroderma, Palmoplantar keratoderma	OMIM:612281
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Long eyelashes, Pustule	OMIM:616069
Androgen Insensitivity Syndrome	Sparse axillary hair, Absent pubic hair, Absent axillary hair, Sparse pubic hair	ORPHA:754
Mitochondrial Complex I Deficiency, Nuclear Type 33	Aspiration pneumonia, Sparse hair, Bronchiectasis	OMIM:618253
Fanconi Anemia, Complementation Group S	Long eyelashes, Ovarian carcinoma, Sparse hair, Low anterior hairline, Ovarian neoplasm	OMIM:617883
Tetrasomy 12P	Sparse eyebrow, Sparse hair	ORPHA:884
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sparse hair, Fine hair, Cryptorchidism	OMIM:616817
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Hirsutism, Adrenal hyperplasia, Acne	OMIM:615830
Ichthyosis, Congenital, Autosomal Recessive 9	Hyperkeratosis, Erythroderma, Orthokeratosis	OMIM:615023
Trichorhinophalangeal Syndrome, Type I	Sparse lateral eyebrow, Leukonychia, Thin eyebrow, Fine hair, Thin nail, Concave nail, Sparse hai...	OMIM:190350
Johnson Neuroectodermal Syndrome	Absent eyelashes, Alopecia, Absent eyebrow, Sparse hair	ORPHA:2316
Cardiofaciocutaneous Syndrome	Dystrophic fingernails, Aplasia/Hypoplasia of the eyebrow, Brittle hair, Fine hair, Hyperkeratosi...	ORPHA:1340
Cerebrooculofacioskeletal Syndrome 2	Sparse hair	OMIM:610756
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Sparse body hair, Sparse eyebrow, Rhinitis, Brittle hair, Absent eyelashes, Absent nipple, Eczema...	OMIM:305100
Psoriasis 15, Pustular, Susceptibility To	Psoriasiform dermatitis, Nail dystrophy	OMIM:616106
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Polycystic ovaries, Sparse hair	OMIM:268020
Multiple Carboxylase Deficiency	Alopecia, Skin rash	ORPHA:148
19Q13.11 Microdeletion Syndrome	Sparse lateral eyebrow, Supernumerary nipple, Fine hair, Nail dysplasia, Cryptorchidism, Sparse h...	ORPHA:217346
Idiopathic Aplastic Anemia	Epistaxis, Retinal hemorrhage, Gingival bleeding, Ecchymosis	ORPHA:88
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair	OMIM:620001
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Synophrys, Curly hair, Sparse hair, Sparse eyebrow	OMIM:620075
Adult Syndrome	Conjunctivitis, Sparse scalp hair, Fair hair, Sparse axillary hair, Absent nipple, Eczema, Nail p...	OMIM:103285
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse eyelashes, Sparse hair, Sparse eyebrow	OMIM:224900
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Sparse body hair, Decreased testicular size	ORPHA:2234
Braddock-Carey Syndrome 1	Curly hair, Sparse hair	OMIM:619980
Joubert Syndrome 37	Decreased testicular size, Sparse hair, Cryptorchidism	OMIM:619185
Persistent Hyperplastic Primary Vitreous	Hemorrhage of the eye	ORPHA:91495
Pseudoxanthoma Elasticum	Retinal hemorrhage, Restrictive cardiomyopathy, Mitral stenosis, Intermittent claudication, Angin...	OMIM:264800
Complete Androgen Insensitivity Syndrome	Sparse axillary hair, Bilateral cryptorchidism, Sparse pubic hair, Absent pubic hair, Elevated ci...	ORPHA:99429
Jaberi-Elahi Syndrome	Sparse eyebrow, Brittle hair, Fine hair, Sparse eyelashes, Sparse hair	OMIM:617988
Trichorhinophalangeal Syndrome Type 1 And 3	Sparse eyebrow, Leukonychia, Fragile nails, Sparse eyelashes, Sparse hair	ORPHA:77258
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Synophrys, Sparse hair, Low anterior hairline, Fine hair	ORPHA:391408
Hawkinsinuria	Sparse hair	OMIM:140350
Ectodermal Dysplasia And Immunodeficiency 1	Aplasia of the eccrine sweat glands, Sparse hair, Molluscum contagiosum	OMIM:300291
Retinoblastoma	Hyphema, Vitreous hemorrhage, Subretinal pigment epithelium hemorrhage	ORPHA:790
Borjeson-Forssman-Lehmann Syndrome	Decreased testicular size, Thick eyebrow, Sparse hair, Cryptorchidism	ORPHA:127
Trichorhinophalangeal Syndrome, Type Iii	Sparse lateral eyebrow, Sparse hair	OMIM:190351
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia	OMIM:617763
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin	ORPHA:90160
Adiposis Dolorosa	Arthritis, Sparse axillary hair, Sparse pubic hair, Recurrent skin infections	ORPHA:36397
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Paronychia, Abnormal hair morphology, Pruritus, Dystrophic fing...	ORPHA:2314
Cardiofaciocutaneous Syndrome 1	Curly hair, Absent eyelashes, Absent eyebrow, Low posterior hairline, Hyperkeratosis, Sparse hair...	OMIM:115150
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Hirsutism, Polycystic ovaries, Acne	ORPHA:2795
Incontinentia Pigmenti	Dystrophic toenail, Alopecia, Infectious encephalitis, Skin rash, Supernumerary nipple, Abnormali...	ORPHA:464
Morgagni-Stewart-Morel Syndrome	Hirsutism, Osteoarthritis, Acne	ORPHA:77296
Classic Phenylketonuria	Hypopigmentation of hair, Eczema	ORPHA:79254
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair	OMIM:614105
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Tubulointerstitial nephritis, Alopecia, Osteomyelitis, Crusting erythematous dermatitis, Hepatiti...	ORPHA:37042
46,Xy Sex Reversal 6	Sparse axillary hair, Hirsutism	OMIM:613762
Dyskeratosis Congenita	Alopecia, Abnormal eyebrow morphology, Premature graying of hair, Abnormal testis morphology, Per...	ORPHA:1775
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Hyphema	OMIM:221900
Chromosome 5P13 Duplication Syndrome	Sparse hair, Low posterior hairline	OMIM:613174
Neonatal Lupus Erythematosus	Malar rash, Skin rash, Parakeratosis, Hyperkeratosis, Maculopapular exanthema	ORPHA:398124
Leptospirosis	Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Pericarditis, Arrhythmia, Subconjunctival ...	ORPHA:509
Inflammatory Bowel Disease 28, Autosomal Recessive	Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis	OMIM:613148
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Horizontal eyebrow, Chronic monilial nail infection, Onychog...	ORPHA:294023
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Hepatitis, Arthritis, Eczema, Glomerulonephritis, Erythroderma	OMIM:304790
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Premature graying of hair, Interstitial pneumonitis, Nail pits, Ridged nail, Sparse hai...	OMIM:127550
Ruijs-Aalfs Syndrome	Sparse hair, Premature graying of hair	OMIM:616200
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin	ORPHA:90159
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse eyebrow, Sparse scalp hair, Decreased response to growth hormone stimulation test, Fair ha...	OMIM:129900
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Allergic rhinitis, Eczema, Erythroderma, Pruritus	ORPHA:330064
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Arthritis, Iritis, Epididymitis, Patchy alopecia	OMIM:109650
Inflammatory Skin And Bowel Disease, Neonatal, 1	Onychogryposis, Pustule, Paronychia, Erythroderma, Blepharitis	OMIM:614328
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal hemorrhage, Telangiectasia, Punctate vasculitis skin lesions, Raynaud phenomenon, Vasculi...	OMIM:192315
Macs Syndrome	Alopecia, Sparse eyebrow, Recurrent aphthous stomatitis, Bronchiectasis, Cryptorchidism, Sparse hair	OMIM:613075
Acrodermatitis Enteropathica	Conjunctivitis, Alopecia, Abnormal eyebrow morphology, Abnormality of the nail, Pustule, Paronych...	ORPHA:37
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Conjunctivitis, Alopecia, Scleritis, Episcleritis, Keratitis, Thin eyebrow, Eczema, Abnormality o...	ORPHA:2273
Prolidase Deficiency	Crusting erythematous dermatitis, Eczema, Recurrent pneumonia, Low posterior hairline, Facial hir...	OMIM:170100
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse eyelashes, Sparse hair	OMIM:302960
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Thyroiditis, Alopecia universalis, Eczema, Patchy alopecia, Erythroderm...	OMIM:606367
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Stomatitis, Pustule, Hyperkeratosis	OMIM:612852
Scarf Syndrome	Hypoplastic nipples, Sparse hair, Cryptorchidism, Low posterior hairline	ORPHA:3134
Cutis Laxa, Autosomal Recessive, Type Iiia	Sparse hair, Cryptorchidism	OMIM:219150
Combined Immunodeficiency-Enteropathy Spectrum	Hypoplasia of the thymus, Hepatitis, Alopecia of scalp, Hashimoto thyroiditis, Absent eyebrow, Ab...	ORPHA:436252
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Fine hair, Abnormality of the nail, Abnormal fingernail morphology, Pal...	ORPHA:2710
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hypoplastic nipples, Sparse hair, Palmoplantar hyperkeratosis, Fine hair	OMIM:280000
Revesz Syndrome	Fine hair, Nail pits, Ridged fingernail, Sparse hair, Nail dystrophy	OMIM:268130
Biotinidase Deficiency	Conjunctivitis, Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis	OMIM:253260
Cartilage-Hair Hypoplasia	Sparse eyebrow, Fair hair, Sparse facial hair, Fine hair, Sparse eyelashes, Sparse hair	OMIM:250250
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse eyebrow, Nail dysplasia, Cryptorchidism, Sparse eyelashes, Sparse hair	OMIM:613026
Premature Aging Syndrome, Penttinen Type	Elevated circulating thyroid-stimulating hormone concentration, Hyperkeratosis, Sparse hair, Palm...	OMIM:601812
Aredyld Syndrome	Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Fine hair	OMIM:614091
Leprosy	Sparse body hair, Alopecia, Testicular mass, Iritis, Uveitis, Absent eyebrow, Hyperkeratosis, Los...	ORPHA:548
Lethal Congenital Contracture Syndrome 5	Retinal hemorrhage, Subdural hemorrhage	OMIM:615368
Frontonasal Dysplasia 2	Sparse eyebrow, Bilateral cryptorchidism, Fine hair, Alopecia totalis, Sparse eyelashes, Sparse hair	OMIM:613451
Adams-Oliver Syndrome	Alopecia, Absent fingernail, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Sparse hair	ORPHA:974
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyebrow, High anterior hairline, Small nail, Sparse eyelashes, Sparse hair	OMIM:250410
Mandibuloacral Dysplasia	Hypoplastic fingernail, Alopecia, Sparse hair	ORPHA:2457
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Sparse hair, Brittle hair	OMIM:608612
Noonan Syndrome 14	Sparse eyebrow, Curly hair, Cryptorchidism, Low posterior hairline, Sparse hair	OMIM:619745
Idiopathic Localized Lipodystrophy	Pruritus, Inflammatory abnormality of the skin	ORPHA:90158
Short Syndrome	Alopecia, Sparse hair	ORPHA:3163
Scarf Syndrome	Cryptorchidism, Low posterior hairline, Hypoplastic nipples, Sparse hair, Low anterior hairline	OMIM:312830
Pseudoxanthoma Elasticum, Forme Fruste	Retinal hemorrhage, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage	OMIM:177850
Marshall Syndrome	Sparse eyelashes, Sparse hair, Sparse eyebrow, Osteoarthritis	ORPHA:560
Bainbridge-Ropers Syndrome	Synophrys, Thin eyebrow, Long eyelashes, Supernumerary nipple, Hirsutism, Highly arched eyebrow, ...	OMIM:615485
Rothmund-Thomson Syndrome Type 1	Aplasia/Hypoplasia of the eyebrow, Alopecia totalis, Plantar hyperkeratosis, Nail dysplasia, Cryp...	ORPHA:221008
Agel Amyloidosis	Pruritus, Keratoconjunctivitis sicca, Sparse hair, Nail dystrophy	ORPHA:85448
Ring Chromosome 12 Syndrome	Dystrophic toenail, Hirsutism, Cryptorchidism, Breast hypoplasia, Acne	ORPHA:1439
Congenital Disorder Of Glycosylation, Type Iia	Thick eyebrow, Hirsutism, Sparse hair, Long eyelashes	OMIM:212066
Nablus Mask-Like Facial Syndrome	Sparse eyebrow, Frontal upsweep of hair, Absent eyelashes, Highly arched eyebrow, Cryptorchidism,...	OMIM:608156
Mullerian Aplasia And Hyperandrogenism	Hirsutism, Acne	OMIM:158330
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Sinusitis, Recurrent otitis media, Inflammatory abnormality of the skin	ORPHA:277
Chime Syndrome	Hyperkeratosis, Sparse hair, Fine hair	ORPHA:3474
Estrogen Resistance Syndrome	Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le...	ORPHA:785
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	Sparse hair, Cryptorchidism	OMIM:602613
Central Retinal Vein Occlusion	Retinal neovascularization, Intraretinal hemorrhage	ORPHA:411527
Osteogenesis Imperfecta, Type Xx	Sparse lateral eyebrow, Sparse hair, Highly arched eyebrow	OMIM:618644
Rothmund-Thomson Syndrome, Type 2	Alopecia, Sparse eyebrow, Sparse scalp hair, Premature graying of hair, Absent eyelashes, Annular...	OMIM:268400
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Sparse hair	OMIM:616449
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Aplasia of the ovary, Sparse facial hair, ...	ORPHA:2232
Hamamy Syndrome	Sparse eyebrow, Sparse lateral eyebrow, Abnormal number of hair whorls, Hypoparathyroidism, Crypt...	OMIM:611174
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair	ORPHA:3068
Hallermann-Streiff Syndrome	Sparse body hair, Alopecia, Sparse eyebrow, Uveitis, Cryptorchidism, Sparse eyelashes, Abnormalit...	ORPHA:2108
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Fine hair, Cryptorchidism	OMIM:614438
Meige Disease	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Recurrent skin infections	ORPHA:90186
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Onychogryposis, Recurrent skin infections, Palmoplantar keratoderma, Nail dystrophy	ORPHA:79396
Rothmund-Thomson Syndrome Type 2	Aplasia/Hypoplasia of the eyebrow, Alopecia totalis, Plantar hyperkeratosis, Nail dysplasia, Cryp...	ORPHA:221016
Mixed Connective Tissue Disease	Alopecia, Skin rash, Arthritis, Keratoconjunctivitis sicca, Pericarditis, Myositis, Gastritis, My...	ORPHA:809
Gapo Syndrome	Alopecia, Sparse eyebrow, Nail dysplasia, Sparse eyelashes, Hypoplastic nipples, Sparse hair, Bre...	OMIM:230740
Pseudoxanthoma Elasticum	Sudden cardiac death, Retinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Bruising s...	ORPHA:758
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash	OMIM:253270
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Toenail dysplasia, Synophrys, Eczema, Hirsutism, Sparse hair, Chronic otitis media	OMIM:300966
Phacoanaphylactic Uveitis	Retinal arteritis, Hyphema	ORPHA:209959
Craniolenticulosutural Dysplasia	Sparse hair, Brittle hair, Coarse hair	ORPHA:50814
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Dystrophic fingernails, Alopecia, Sparse scalp hair, Periungual erythema, Erythroderma, Absent ey...	OMIM:308205
Refractory Anemia With Excess Blasts	Retinal hemorrhage, Abnormal bleeding, Palpitations	ORPHA:86839
Cranioectodermal Dysplasia 3	Broad nail, Sparse hair, Short nail, Fine hair	OMIM:614099
Nicolaides-Baraitser Syndrome	Dry hair, Sparse scalp hair, Long eyelashes, Eczema, Sparse medial eyebrow, Absent eyebrow, Crypt...	OMIM:601358
Majeed Syndrome	Skin rash, Osteomyelitis, Inflammatory abnormality of the skin	OMIM:609628
Monosomy 22	Synophrys, Sparse hair, Seborrheic dermatitis, Aplasia of the thymus	ORPHA:96123
Rat-Bite Fever	Endocarditis, Septic arthritis, Lymphadenitis, Oligoarthritis, Maculopapular exanthema, Erythema ...	ORPHA:31205
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Premature graying of hair, Fine hair, Nail dysplasia, Sparse hair, Nail dystrophy	OMIM:612199
Yao Syndrome	Inflammatory abnormality of the skin, Arthritis, Skin rash, Keratoconjunctivitis sicca, Pericarditis	OMIM:617321
Waldenström Macroglobulinemia	Retinal hemorrhage, Purpura, Congestive heart failure, Epistaxis, Gingival bleeding, Gastrointest...	ORPHA:33226
Hereditary Acrokeratotic Poikiloderma	Dystrophic toenail, Keratoconjunctivitis, Palmoplantar hyperkeratosis, Eczema, Pustule, Dystrophi...	ORPHA:2907
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Sparse hair, Thick hair, Coarse hair	ORPHA:357074
Oculodentodigital Dysplasia	Dry hair, Fine hair, Uveitis, Fragile nails, Sparse hair, Slow-growing hair	OMIM:164200
Fetal And Neonatal Alloimmune Thrombocytopenia	Petechiae, Abnormal bleeding, Purpura, Intracranial hemorrhage, Ecchymosis, Cephalohematoma, Gast...	ORPHA:853
Immunodeficiency 59 And Hypoglycemia	High anterior hairline, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Acne inversa,...	OMIM:233600
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Nail dysplasia, Small nail, Sparse hair, Breast hypoplasia	OMIM:614813
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis	ORPHA:79099
Glass Syndrome	Nail dysplasia, Long eyelashes, Sparse hair	OMIM:612313
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	High anterior hairline, Curly hair, Sparse lateral eyebrow, Coarse hair, Cryptorchidism, Highly a...	OMIM:617506
Estrogen Resistance	Polycystic ovaries, Breast aplasia, Acne	OMIM:615363
Teebi-Shaltout Syndrome	Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair	OMIM:272950
Psoriasis-Related Juvenile Idiopathic Arthritis	Sacroiliac arthritis, Malar rash, Oligoarthritis, Pruritus, Iridocyclitis, Enthesitis, Iritis, Sk...	ORPHA:85436
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Absent eyelashes, Alopecia universalis, Absent eyebrow, Sparse hair	ORPHA:363618
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Decreased testicular size, Sparse hair, Fine hair, Cryptorchidism	ORPHA:251028
Down Syndrome	Sparse hair	ORPHA:870
Hallermann-Streiff Syndrome	Sparse eyebrow, Sparse scalp hair, Fine hair, Recurrent pneumonia, Cryptorchidism, Sparse eyelash...	OMIM:234100
Goldberg-Shprintzen Syndrome	Synophrys, Thick eyebrow, Sparse hair, Highly arched eyebrow	OMIM:609460
Graft Versus Host Disease	Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Inflammatory abnormalit...	ORPHA:39812
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Sparse hair, Aplasia of the sweat glands	OMIM:612132
Trichohepatoenteric Syndrome 1

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