Gene Summary

Name:
CD109 antigen
Synonyms:
9930012E15Rik,  Gov platelet alloantigens

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
absent vibrissae Cd109tm1.1(KOMP)Vlcg HOM Early adult 6.69×10-05
eye hemorrhage Cd109tm1.1(KOMP)Vlcg HOM   Early adult 7.16×10-07

Download data as:  TSV  XLS

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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.

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
Spontaneous hematomas, Purpura, Abnormal bleeding, Gastrointestinal hemorrhage, Melena, Cephalohe... ORPHA:853

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Pili Gemini
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab... ORPHA:79492
Hypotrichosis 1
Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S... OMIM:605389
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
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, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Hypotrichosis 2
Abnormality of the nail, Sparse scalp hair OMIM:146520
Hypotrichosis 10
Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:614238
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Prurit... ORPHA:505
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia OMIM:610753
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Alopecia Universalis Congenita
Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis OMIM:203655
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Sparse eyebrow, Abnormal fingernail morphology, Sparse hair, Hypoplastic toenai... ORPHA:2722
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Angioma Serpiginosum, X-Linked
Nail dystrophy, Fine hair, Sparse hair OMIM:300652
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Abnormal hair morphology, Onychogryposis, Palmoplantar hyperkeratosis OMIM:617756
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Nail dystrophy, Onychogryposis of toenails, Abnormality of the nail, Abnormal hair morphology, Sp... ORPHA:1808
Hypertrichosis, Congenital Generalized, 2
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... ORPHA:3361
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy
Hypertrichosis OMIM:620470
Alopecia Areata 1
Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis OMIM:104000
Dissecting Cellulitis Of The Scalp
Recurrent skin infections, Pruritus, Abnormal hair morphology ORPHA:345
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Sparse hair, Pili torti, Follicular hyp... OMIM:607903
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse axillary hair, Sparse hair, Fine ha... ORPHA:189
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Abnormality of the nail, Sparse scalp hair, Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Aredyld
Generalized hypotrichosis OMIM:207780
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair OMIM:234030
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Sparse body hair, Alopecia OMIM:617294
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Ectodermal Dysplasia 5, Hair/Nail Type
Absent toenail, Dystrophic fingernails, Sparse scalp hair OMIM:614927
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Monilethrix
Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia OMIM:158000
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhag... ORPHA:3002
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Absent eyebrow OMIM:620199
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Hyperkeratosis, Nail dystrophy, Diffuse palmoplantar hyperkeratosis ORPHA:79503
Hypotrichosis 14
Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair OMIM:618275
Hypotrichosis 7
Brittle hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse scalp hair, Woolly... OMIM:604379
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Monilethrix
Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Hypotrichosis 13
Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology OMIM:615896
Kerion Celsi
Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... ORPHA:499
Sabinas Brittle Hair Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair OMIM:211390
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus, Abnormal hair m... OMIM:618531
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:616099
Moynahan Syndrome
Hyperkeratosis, Sparse hair, Alopecia ORPHA:2574
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Recurrent otitis media, Thin nail, Absent eyelashes, Hyperkeratosis, Absent eyebr... OMIM:618625
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Thoracic hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... OMIM:117850
Hypotrichosis 9
Abnormality of the nail, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Sparse... OMIM:614237
Marie Unna Hereditary Hypotrichosis
Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al... ORPHA:444
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Nail dystrophy, Pruritus, Plantar hyperkeratosis, Alopecia OMIM:616487
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology... OMIM:614931
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Pruritus, Hyperkeratotic papule, Crusting... ORPHA:79147
Olmsted Syndrome 2
Parakeratosis, Cheilitis, Perioral hyperkeratosis, Hyperkeratosis, Woolly hair, Sparse hair, Palm... OMIM:619208
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Palmoplantar keratoderma,... OMIM:104100
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse scalp hair, Eczematoid dermatitis, Sparse eyelashes, Blepharitis, Spars... OMIM:618535
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Hypotrichosis 12
Sparse or absent eyelashes, Abnormal sweat gland morphology, Abnormality of the nail, Slow-growin... OMIM:615885
Witkop Syndrome
Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ... OMIM:189500
Schopf-Schulz-Passarge Syndrome
Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Hyperkeratosis, Poroma, Apocrine... OMIM:224750
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Hidrotic Ectodermal Dysplasia, Halal Type
Nail dysplasia, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Abnormal f... ORPHA:1809
Trichodental Dysplasia
Slow-growing hair, Fine hair, Sparse hair, Brittle hair OMIM:601453
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... OMIM:602032
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Abnormality of the nail, Hyperkeratosis, Curly hair, Sparse eyelas... OMIM:602400
Ulerythema Ophryogenesis
Contact dermatitis, Sparse lateral eyebrow, Acne, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:3406
Crandall Syndrome
Brittle hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili torti, Alopecia ORPHA:202
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Pustule, Recurrent skin in... ORPHA:346
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Nail dystrophy, Pruritus OMIM:131850
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Hypotrichosis And Recurrent Skin Vesicles
Leukonychia, Sparse scalp hair, Angular cheilitis, Sparse eyelashes, Sparse body hair, Sparse eye... OMIM:613102
Hypotrichosis Simplex Of The Scalp
Slow-growing scalp hair, Parakeratosis, Alopecia of scalp, Hyperkeratosis, Sparse scalp hair, Ato... ORPHA:90368
Ichthyosis, Hystrix-Like, With Deafness
Scarring alopecia of scalp, Hyperkeratosis, Absent eyelashes, Erythroderma, Cobblestone-like hype... OMIM:602540
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse body hair, Abnormal toenail morphology, Sparse hair, Aplasia/... ORPHA:1818
Olmsted Syndrome 1
Nail dysplasia, Parakeratosis, Nail dystrophy, Hyperparakeratosis, Periorificial hyperkeratosis, ... OMIM:614594
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Atopic dermatitis, Thick eyebrow, Sparse hair, Widow's peak OMIM:606242
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Fingernail dysplasia, Ridged fingernail, Sparse hair, Palmoplantar ... ORPHA:2251
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Sparse hair, Follicular hyperkeratosis OMIM:613576
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Parakeratosis, Nail dystrophy, Sparse hair, Palmoplantar hyperkeratosis, Erythrod... OMIM:242300
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Acne inversa, Chronic furunculosis, Perifolliculitis OMIM:613737
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Trichodysplasia, Brittle hair, Absent eyelashes, Absent eyebrow, Eczematoid derma... ORPHA:2890
Erosive Pustular Dermatosis Of The Scalp
Pustule, Abnormal hair morphology, Scarring alopecia of scalp ORPHA:222
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Pustular ras... OMIM:613953
Intermediate Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Scarring alopecia of scalp, Sparse body hair, Anonychia, Palmoplantar keratoderma ORPHA:79402
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Slow-growing hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair OMIM:129490
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi, Brittle hair OMIM:617252
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Palmoplantar keratoderma, Alopecia ORPHA:50944
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Absent eyebrow, Spar... OMIM:604536
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Erythrokeratodermia Variabilis Et Progressiva 2
Palmoplantar keratoderma, Hypertrichosis OMIM:617524
Hypotrichosis 5
Absent pubic hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse eyelashes, Th... OMIM:612841
Idiopathic Trachyonychia
Nail dystrophy, Thin nail, Ridged nail, Toenail dysplasia, Abnormality of the periungual region, ... ORPHA:79153
Trichothiodystrophy 9, Nonphotosensitive
Nail dystrophy, Sparse eyebrow, Tiger tail banding, Sparse hair OMIM:619692
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess fo... OMIM:613736
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Trichorrhexis nodosa, Nail dystrophy, Scarring alopecia of scalp, Eczematoid dermatitis, Sparse l... OMIM:617337
Proliferating Trichilemmal Cyst
Sparse scalp hair ORPHA:492
Erythrokeratodermia Variabilis
Abnormal hair morphology, Abnormality of the nail, Hyperkeratosis, Skin rash, Abnormal testis mor... ORPHA:317
Woolly Hair-Skin Fragility Syndrome
Palmoplantar keratoderma, Acantholysis, Woolly hair OMIM:620415
Bathing Suit Ichthyosis
Parakeratosis, Nail dystrophy, Sparse hair, Palmoplantar hyperkeratosis, Erythroderma, Alopecia ORPHA:100976
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Hyperkeratosis, Sparse hair, Brittle hair ORPHA:1883
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Nail dystrophy, Ridged nail, Alopecia OMIM:601705
Bazex-Dupré-Christol Syndrome
Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Sparse eyebrow,... ORPHA:113
Uncombable Hair Syndrome 1
Uncombable hair, Pili canaliculi, Dry hair OMIM:191480
Hypotrichosis 3
Abnormality of the nail, Abnormal eyelash morphology, Sparse scalp hair, Abnormal sweat gland mor... OMIM:613981
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Abnormal toenai... ORPHA:1433
Classic Mycosis Fungoides
Abnormality of the nail, Hyperkeratosis, Skin rash, Eczematoid dermatitis, Pruritus, Alopecia ORPHA:2584
Pili Torti
Brittle hair, Abnormality of the nail, Abnormality of hair texture, Abnormal eyebrow morphology, ... ORPHA:2889
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Pseudopelade Of Brocq
Cheilitis, Abnormal hair morphology, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplas... ORPHA:129
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse body hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1006
Lamellar Ichthyosis
Chronic otitis media, Abnormality of the nail, Hyperkeratosis, Sparse hair, Aplasia/Hypoplasia of... ORPHA:313
Ichthyosis With Erythrokeratoderma
Parakeratosis, Leukonychia, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Erythroderma, Na... OMIM:620507
Pityriasis Rubra Pilaris
Abnormality of the nail, Erythroderma, Eczematoid dermatitis, Pustule, Subungual hyperkeratosis, ... ORPHA:2897
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Folliculitis, Sparse eyelashe... OMIM:308800
Pachyonychia Congenita 2
Nail dysplasia, Nail dystrophy, Subungual hyperkeratosis, Sparse scalp hair, Folliculitis, Angula... OMIM:167210
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Nail dysplasia, Nail dystrophy, Scarring alopecia of scalp, Folliculitis, Sparse eyelashes, Bleph... OMIM:612843
Aquagenic Palmoplantar Keratoderma
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Atopic dermatitis, Palmar pruritus ORPHA:498359
Woolly Hair, Autosomal Dominant
Coarse hair, Slow-growing hair, Abnormal eyelash morphology, Woolly hair, Abnormal eyebrow morpho... OMIM:194300
Vohwinkel Syndrome, Variant Form
Parakeratosis, Abnormal hair morphology, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, O... OMIM:604117
Ectodermal Dysplasia 7, Hair/Nail Type
Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse... OMIM:614929
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Absent lower eyelashes, Distichiasis, Sparse hair OMIM:227260
Olmsted Syndrome, X-Linked
Parakeratosis, Subungual hyperkeratosis, Hyperkeratosis, Blepharitis, Posterior blepharitis, Alop... OMIM:300918
Bazex-Dupre-Christol Syndrome
Trichorrhexis nodosa, Trichoepithelioma, Atopic dermatitis, Eczematoid dermatitis, Sparse hair, P... OMIM:301845
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Sparse hair ORPHA:79133
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Long eyebrows, Long eyelashes, Sparse hair... OMIM:275400
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis, Fine hair, Sparse hair, Alopecia ORPHA:1839
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Ichthyosis Prematurity Syndrome
Alopecia of scalp, Allergic rhinitis, Erythroderma, Pruritus, Follicular hyperkeratosis OMIM:608649
Hawkinsinuria
Fine hair, Sparse hair ORPHA:2118
Chilblain Lupus
Malar rash, Hyperkeratosis, Discoid lupus rash, Skin rash, Inflammatory abnormality of the skin, ... ORPHA:90280
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Cryptorchidism ORPHA:85274
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Generalized hyperkeratosis, Hyperkeratosis, Erythroderma, Cobblestone-like hyperkeratosis, Palmop... OMIM:620150
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Hyperkeratosis, Sparse scalp hair, Fine hair, Pili torti ORPHA:1573
Papillon-Lefèvre Syndrome
Nail dystrophy, Severe periodontitis, Periodontitis, Abnormality of the nail, Recurrent cutaneous... ORPHA:678
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Erythroderma, Eosinophilic infiltration of the esophagus, Sparse hair, Palmoplantar keratoderma, ... OMIM:615508
Congenital Ichthyosiform Erythroderma
Abnormality of the nail, Erythroderma, Keratitis, Palmoplantar keratoderma, Pruritus, Alopecia ORPHA:79394
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Porphyria Cutanea Tarda, Type I
Hypertrichosis, Eczematoid dermatitis OMIM:176090
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse body hair, Sparse hair, Eczematoid dermatitis ORPHA:1810
Glycosylphosphatidylinositol Biosynthesis Defect 25
Coarse hair, Sparse hair OMIM:619985
Ectodermal Dysplasia-Syndactyly Syndrome 1
Coarse hair, Small nail, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Hypoplastic toenai... OMIM:613573
Mal De Meleda
Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar keratoderma, Superficial dermal periva... ORPHA:87503
Cortisone Reductase Deficiency 1
Acne, Hirsutism, Alopecia OMIM:604931
Netherton Syndrome
Parakeratosis, Brittle hair, Sparse scalp hair, Chronic rhinitis, Eczematoid dermatitis, Sparse e... OMIM:256500
Cardiofaciocutaneous Syndrome 2
Fine hair, Absent eyebrow, Sparse hair, Curly hair OMIM:615278
Coffin-Siris Syndrome 8
Sparse scalp hair, Long eyelashes, Eczematoid dermatitis, Thick eyebrow, Cryptorchidism, Hypertri... OMIM:618362
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Long eyelashes, Sparse hair, Cryptorchidis... ORPHA:3363
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Thick hair, Sclerosing cholangitis, Bile duct proliferation, Sparse eyelashes, Spa... OMIM:607626
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Lelis Syndrome
Nail dystrophy, Yellow nails, Sparse lateral eyebrow, Abnormal toenail morphology, Sparse hair, P... ORPHA:140936
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Ichthyosis With Confetti
Hypoplastic nipples, Hypertrichosis, Palmoplantar hyperkeratosis, Erythroderma, Pruritus OMIM:609165
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Posterior retinal neovascularization, Peripheral retinal neovascularization OMIM:193235
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Nail dystrophy, Onychogryposis, Hyperkeratosis, Honeycomb palmoplantar hyperkerato... ORPHA:79395
Acquired Ichthyosis
Palmoplantar keratoderma, Recurrent skin infections, Hyperkeratosis, Pruritus ORPHA:454
Xq27.3Q28 Duplication Syndrome
Decreased testicular size, Sparse body hair, Cryptorchidism ORPHA:261483
Pseudoprogeria Syndrome
Absent eyelashes, Absent eyebrow, Sparse eyebrow, Sparse hair, Alopecia ORPHA:2985
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Lichen Planopilaris
Hyperkeratosis, Onycholysis, Abnormal fingernail morphology, Hepatitis, Pruritus, Alopecia ORPHA:525
Dermoodontodysplasia
Trichodysplasia, Toenail dysplasia, Sparse scalp hair, Sparse body hair, Fingernail dysplasia ORPHA:1660
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Fragile nails, Sparse hair, Conjunctivitis, Palmoplantar keratoderma, Alopecia OMIM:242150
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair, Short eyelashes, Sparse axillary hair OMIM:608615
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Nail dystrophy, Atopic dermatitis OMIM:618806
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis ORPHA:79148
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Hyperkeratosis OMIM:136630
Psoriasis 14, Pustular
Parakeratosis, Nail dystrophy, Cholangitis, Pustule, Psoriasiform dermatitis, Oligoarthritis OMIM:614204
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Hyperkeratosis, Erythroderma OMIM:615024
Odontoonychodermal Dysplasia
Dry hair, Nail dysplasia, Dystrophic fingernails, Thin nail, Ridged nail, Dystrophic toenail, Spa... OMIM:257980
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Mucoepithelial Dysplasia, Hereditary
Nail dysplasia, Nail dystrophy, Follicular hyperkeratosis, Chronic monilial nail infection, Chron... OMIM:158310
Trichothiodystrophy 1, Photosensitive
Trichorrhexis nodosa, Nail dystrophy, Keratoconjunctivitis sicca, Brittle hair, Small nail, Hyper... OMIM:601675
Lipoid Proteinosis
Hyperkeratosis, Pustule, Alopecia of scalp, Acne ORPHA:530
Trichothiodystrophy 8, Nonphotosensitive
Trichorrhexis nodosa, Woolly hair, Eczematoid dermatitis, Sparse eyebrow, Sparse hair OMIM:619691
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Abnormal fingernail morphology, Sparse hair, Fine hair, Keratoconjunctivitis sicca ORPHA:1806
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Hypohidrotic Ectodermal Dysplasia
Trichorrhexis nodosa, Breast aplasia, Slow-growing hair, Abnormal hair quantity, Hyperkeratosis, ... ORPHA:238468
Nicolaides-Baraitser Syndrome
Curly eyelashes, Highly arched eyebrow, Abnormal testis morphology, Long eyelashes, Eczematoid de... ORPHA:3051
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dysplasia, Brittle hair, Progressive hypotrichosis, Atopic dermatitis, Sparse eyelashes, Spa... OMIM:225060
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Chondrodysplasia Punctata, Autosomal Dominant
Coarse hair, Hyperkeratosis with erythema, Sparse hair OMIM:118650
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Atopic derma... OMIM:618282
Lessel-Kubisch Syndrome
Premature graying of hair, Sparse pubic hair OMIM:618681
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Scarring alopecia of scalp, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow ORPHA:59303
Incontinentia Pigmenti
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Ridged nail, Breast aplasia, Onychogryposis, M... OMIM:308300
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:261900
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse pubic hair, Sparse axillary hair OMIM:146110
Trichorhinophalangeal Syndrome, Type Iii
Sparse lateral eyebrow, Epidermal hyperkeratosis, Fine hair, Sparse hair OMIM:190351
Congenital Disorder Of Glycosylation, Type Im
Hyperkeratosis, Sparse eyelashes, Sparse eyebrow, Inflammatory abnormality of the skin, Alopecia OMIM:610768
Eem Syndrome
Sparse body hair, Sparse scalp hair, Absent eyebrow ORPHA:1897
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Sparse eyelashes, Erysipelas, Sparse eyebrow, Alopecia OMIM:615704
Gand Syndrome
Sparse hair OMIM:615074
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Dystrophic fingernails, Recurrent loss of toenails and fingernails, Dystrophic toenail, Palmoplan... ORPHA:158673
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Patchy palmoplantar hyperkeratosis, Generalized hyperkeratosis OMIM:133200
Kid Syndrome
Nail dystrophy, Recurrent bacterial skin infections, Sparse hair, Recurrent cutaneous abscess for... ORPHA:477
Cardiofaciocutaneous Syndrome 4
Alopecia of scalp, Decreased response to growth hormone stimulation test, Curly hair, Sparse eyel... OMIM:615280
Ifap Syndrome 2
Nail dystrophy, Atrichia, Angular cheilitis, Posterior blepharitis, Keratitis, Sparse hair, Kerat... OMIM:619016
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Palmar pruritus, Pruritus on foot, Eczematoid dermatitis, Pruritis on abdomen, Pru... ORPHA:64745
Familial Peripheral Male-Limited Precocious Puberty
Acne, Macroorchidism, Abnormal hair morphology ORPHA:3000
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, Low posterior hairline ORPHA:2183
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Brittle hair, Uncombable hair, Woolly hair, Chronic hepatitis, Sparse hair,... OMIM:614602
Naxos Disease
Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Woolly hair, Curly hair, Ony... OMIM:601214
Localized Junctional Epidermolysis Bullosa
Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Dystrophic toenail, Sparse pu... ORPHA:251393
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse body hair, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Hirsutism, Acne OMIM:612847
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism, Sparse hair OMIM:273390
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Distichiasis, Sparse lateral eyebrow, Abnormal hair pattern, Sparse lower ... ORPHA:1807
Rapp-Hodgkin Syndrome
Nail dystrophy, Recurrent otitis media, Pili canaliculi, Decreased number of sweat glands, Small ... OMIM:129400
Fg Syndrome 3
Frontal upsweep of hair, Fine hair, Cryptorchidism, Sparse hair OMIM:300406
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent sinusitis, Atrophic gastritis, Bronchiectasis, Recurrent skin infe... OMIM:616576
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Hirsutism, Long eyelashes, Thick eyebrow, Low anterior hairline, Sparse hair OMIM:616819
Ectodermal Dysplasia-Skin Fragility Syndrome
Nail dystrophy, Cheilitis, Recurrent pneumonia, Recurrent skin infections, Sparse hair, Palmoplan... ORPHA:158668
Alopecia Universalis
Abnormality of the nail, Absent eyelashes, Patchy alopecia, Atopic dermatitis, Absent eyebrow, Al... ORPHA:701
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Small nail, Abnormality of ha... OMIM:234050
Peeling Skin Syndrome 4
Palmoplantar keratoderma, Hyperkeratosis, Nail dystrophy, Orthokeratosis OMIM:607936
Congenital Disorder Of Glycosylation, Type Iq
Hyperkeratosis, Hypertrichosis, Eczematoid dermatitis OMIM:612379
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Aplasia/Hypoplasia of the eyebrow, Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow,... ORPHA:3253
Intellectual Developmental Disorder, Autosomal Recessive 5
Eczematoid dermatitis, Thick eyebrow, Sparse hair, Synophrys OMIM:611091
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Palmoplantar keratoderma, Abnormal fingernail morphology, Sparse hair, Alopecia ORPHA:659
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Absent nipple, Sparse hair, Brittle hair OMIM:614940
Even-Plus Syndrome
Highly arched eyebrow, Atopic dermatitis, Sparse hair, Synophrys OMIM:616854
Sézary Syndrome
Nail dystrophy, Erythroderma, Palmoplantar keratoderma, Pruritus, Alopecia ORPHA:3162
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Leukonychia, Cheilitis, Hyperkeratosis, Angular cheilitis, Onycholysis, Punctate palmoplantar hyp... OMIM:616295
Filippi Syndrome
Frontal hirsutism, Cryptorchidism, Hypertrichosis, Sparse hair OMIM:272440
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Absent hair, Nail dystrophy, Trichorrhexis nodosa, Ridged nail, Abnormality of the nail, Sparse s... ORPHA:1010
Zinc Deficiency, Transient Neonatal
Eczematoid dermatitis, Alopecia OMIM:608118
Prolidase Deficiency
Hyperkeratosis, Hirsutism, White forelock, Abnormal fingernail morphology, Low anterior hairline,... ORPHA:742
Blepharocheilodontic Syndrome 1
Nail dysplasia, High anterior hairline, Small nail, Distichiasis, Sparse hair OMIM:119580
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism, Sparse hair ORPHA:631
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyelashes, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Absent eyebrow, Sparse e... OMIM:614941
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Retinal hemorrhage, Hypertro... ORPHA:464321
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Progeroid Syndrome, Petty Type
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Generalized hirsutism, Thick eye... ORPHA:2963
Androgen Insensitivity Syndrome
Absent facial hair, Sparse pubic hair, Sparse axillary hair OMIM:300068
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Panhypopituitarism, Tiger tail banding, Decreased testicular siz... OMIM:300953
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hyperkeratosis, Abnormal toenail morphology, Sparse hair, Alopecia ORPHA:1005
Netherton Syndrome
Trichorrhexis nodosa, Abnormal hair morphology, Skin rash, Sparse scalp hair, Eczematoid dermatit... ORPHA:634
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Nail dystrophy, Recurrent otitis media, Chronic mucocutaneous candidiasis, Eczematoid dermatitis,... ORPHA:98813
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorr... ORPHA:99827
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Ecchymosis, Epistaxis, Subconjunctival hemorrhage, Bruisi... ORPHA:464329
Noonan Syndrome 8
Hyperkeratosis, Cryptorchidism, Eczematoid dermatitis, Curly hair OMIM:615355
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse eyebrow, Sparse hair OMIM:619989
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Alopecia ORPHA:69735
Poikiloderma With Neutropenia
Nail dystrophy, Recurrent otitis media, Hyperkeratosis, Skin rash, Low posterior hairline, Sparse... OMIM:604173
Peeling Skin Syndrome 6
Parakeratosis, Orthokeratosis, Pruritus, Atopic dermatitis OMIM:618084
Anauxetic Dysplasia 2
Nail dysplasia, Sparse hair, Small nail OMIM:617396
Tooth Agenesis, Selective, 4
Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse body hair, Short eyelashes,... OMIM:150400
Trichotillomania
Alopecia OMIM:613229
Peeling Skin Syndrome 1
Nail dystrophy, Brittle hair, Onycholysis, Erythroderma, Pruritus OMIM:270300
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lymphadenitis, Alopecia ORPHA:90156
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Hyperkeratosis, Erythroderma ORPHA:312
Sting-Associated Vasculopathy, Infantile-Onset
Nail dystrophy, Malar rash, Myositis, Periungual erythema, Skin rash, Pustular rash, Pustule, Nai... OMIM:615934
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Bradycardia, Hypotension, Ecchymosis, Subconjunctival hemorrhage, Excessive... ORPHA:319213
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Melena, Petechiae, Capillary leak, Hypertension, Hypotension, Internal hemorrhage, E... ORPHA:340
Bleeding Disorder, Platelet-Type, 21
Eczematoid dermatitis, Psoriasiform dermatitis, Alopecia OMIM:617443
Cahmr Syndrome
Generalized hypertrichosis OMIM:211770
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Chronic Mucocutaneous Candidiasis
Cheilitis, Abnormality of the nail, Hyperkeratosis, Skin rash, Broad nail, Abnormal toenail morph... ORPHA:1334
Milroy Disease
Erysipelas, Hyperkeratosis, Toenail dysplasia, Hydrocele testis ORPHA:79452
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic nipples, Sparse hair, Small nail OMIM:273400
Cronkhite-Canada Syndrome
Hypoplastic toenails, Dystrophic fingernails, Dystrophic toenail, Patchy alopecia, Sparse body ha... ORPHA:2930
Hydroa Vacciniforme
Malar rash, Superficial dermal perivascular inflammatory infiltrate, Eczematoid dermatitis, Papul... ORPHA:330058
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Predominantly dermal neut... ORPHA:284426
Eales Disease
Ischemic stroke, Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vit... ORPHA:40923
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis OMIM:602723
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Sparse hair, Alopecia OMIM:616353
Cranioectodermal Dysplasia
Abnormal fingernail morphology, Abnormal toenail morphology, Sparse hair ORPHA:1515
2Q32Q33 Microdeletion Syndrome
Decreased testicular size, Fine hair, Sparse hair ORPHA:251019
Onychotrichodysplasia And Neutropenia
Trichorrhexis nodosa, Hypoplastic fingernail, Curly eyelashes, Curly hair, Short eyelashes, Spars... OMIM:258360
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Lacunar stroke, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage OMIM:611773
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Sparse lateral eyebrow, Low anterior hairline, Thin eyebrow, Sparse hair, Pili ... ORPHA:1787
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Acantholysis, Cutaneous abscess, Ulcerative colit... ORPHA:555905
Rodrigues Blindness
Fine hair, Sparse hair OMIM:268320
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Desbuquois Syndrome
Abnormal eyelash morphology, Sparse hair ORPHA:1425
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Abnormal hair whorl, Sparse hair ORPHA:2872
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Facial hirsutism, Hirsutism, Abnormality of the ovary, S... ORPHA:247768
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Sparse body hair, Increased circulating gonadotropin level, Cryptorchi... OMIM:300869
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Nail dystrophy, Absent eyelashes, Patchy alopecia, Sparse eyelashes, Conjunctivitis, Sparse body ... OMIM:106260
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Dystrophic fingernails, Hyperconvex fingernails, Dystrophic toenail, Sparse eyelashes, Sparse eye... ORPHA:1071
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Pemphigus Foliaceus
Pustule, Erythroderma, Acantholysis, Psoriasiform dermatitis, Crusting erythematous dermatitis, P... ORPHA:79481
Familial Benign Copper Deficiency
Early balding, Acne ORPHA:1551
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Sparse axillary hair OMIM:608154
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Noonan Syndrome 6
Long eyebrows, Low posterior hairline, Curly hair, Sparse hair, Cryptorchidism OMIM:613224
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Eczematoid dermatitis, Sparse hair, Hyperconvex nail OMIM:619721
Dermatitis, Atopic
Atopic dermatitis, Eczematoid dermatitis, Pruritus, Conjunctivitis, Recurrent skin infections, Al... OMIM:603165
Ichthyosis, Congenital, Autosomal Recessive 5
Palmoplantar keratoderma, Parakeratosis, Orthokeratosis, Erythroderma OMIM:604777
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Alopecia ORPHA:177
Bone Marrow Failure Syndrome 3
Nail dystrophy, Hyperechogenic pancreas, Small nail, Hyperkeratosis, Eczematoid dermatitis, Spars... OMIM:617052
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis in the skin, Vasculitis, Hematochezia, Subconjunctival hemorrhage OMIM:617718
Reactive Arthritis
Dystrophic fingernails, Recurrent aphthous stomatitis, Abnormality of the nail, Arthritis, Hyperk... ORPHA:29207
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, High anterior hairline, Macroorchidism, Sparse hair ORPHA:284180
Intellectual Developmental Disorder, Autosomal Dominant 65
Thin eyebrow, Synophrys, Low posterior hairline, Sparse hair OMIM:619320
Lymphoproliferative Syndrome, X-Linked, 2
Folliculitis, Inflammation of the large intestine, Acne, Erythema nodosum, Recurrent skin infecti... OMIM:300635
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Hirsutism, Sparse hair OMIM:618087
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Hyperkeratosis, Sparse scalp hair, Curly hair, Long eyelashes, Eczematoid derm... OMIM:607721
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Erythroderma, Palmoplantar keratoderma, Orthokeratosis OMIM:612281
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization ORPHA:891
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Aspiration pneumonia, Sparse hair OMIM:618253
Holocarboxylase Synthetase Deficiency
Eczematoid dermatitis, Perioral eczema, Keratoconjunctivitis, Alopecia ORPHA:79242
X-Linked Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Recurrent pneumonia, Conjunctivitis, Recur... ORPHA:47
Fanconi Anemia, Complementation Group S
Ovarian neoplasm, Long eyelashes, Low anterior hairline, Sparse hair, Ovarian carcinoma OMIM:617883
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Fine hair, Cryptorchidism, Sparse hair OMIM:616817
Idiopathic Aplastic Anemia
Ecchymosis, Gingival bleeding, Epistaxis, Retinal hemorrhage ORPHA:88
Pachydermoperiostosis
Abnormal hair quantity, Seborrheic dermatitis, Arthritis, Eczematoid dermatitis, Abnormal fingern... ORPHA:2796
Rothmund-Thomson Syndrome
Nail dysplasia, Small nail, Abnormality of the nail, Malar rash, Skin rash, Sparse eyelashes, Spa... ORPHA:2909
Ichthyosis, Congenital, Autosomal Recessive 9
Erythroderma, Hyperkeratosis, Orthokeratosis OMIM:615023
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Long eyelashes OMIM:616069
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Abnormal bleeding, Bradycardia, Petechiae, Capillary leak, Hypotensio... ORPHA:99826
Tetrasomy 12P
Sparse eyebrow, Sparse hair ORPHA:884
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Synophrys, Sparse eyebrow, Sparse hair, Curly hair OMIM:620075
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Brittle hair, Absent eyelashes, Hypoplastic nipples, Absent nipple, Aplasia/Hypoplastia of the ec... OMIM:305100
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Hirsutism, Acne, Alopecia OMIM:615830
Cardiofaciocutaneous Syndrome
Dystrophic fingernails, Sparse or absent eyelashes, Brittle hair, Slow-growing hair, Hyperkeratos... ORPHA:1340
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair OMIM:620001
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Sparse hair OMIM:268020
Johnson Neuroectodermal Syndrome
Absent eyelashes, Absent eyebrow, Sparse hair, Alopecia ORPHA:2316
19Q13.11 Microdeletion Syndrome
Nail dysplasia, Sparse or absent eyelashes, Sparse lateral eyebrow, Sparse hair, Fine hair, Crypt... ORPHA:217346
Cerebrooculofacioskeletal Syndrome 2
Sparse hair OMIM:610756
Psoriasis 15, Pustular, Susceptibility To
Nail dystrophy, Psoriasiform dermatitis OMIM:616106
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyelashes, Sparse eyebrow, Sparse hair OMIM:224900
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,... OMIM:264800
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, Sparse hair OMIM:619185
Adult Syndrome
Breast hypoplasia, Alopecia of scalp, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Ecze... OMIM:103285
Braddock-Carey Syndrome 1
Sparse hair, Curly hair OMIM:619980
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased testicular size, Sparse body hair ORPHA:2234
Adiposis Dolorosa
Arthritis, Sparse pubic hair, Recurrent skin infections, Sparse axillary hair ORPHA:36397
Auriculocondylar Syndrome 2B
Sparse hair, Synophrys OMIM:620458
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Fine hair, Low anterior hairline, Sparse hair, Synophrys ORPHA:391408
Hawkinsinuria
Sparse hair OMIM:140350
Trichorhinophalangeal Syndrome Type 1
Leukonychia, Sparse eyelashes, Sparse eyebrow, Fragile nails, Sparse hair ORPHA:77258
Complete Androgen Insensitivity Syndrome
Acne, Absent pubic hair, Testicular neoplasm, Bilateral cryptorchidism, Sparse pubic hair, Elevat... ORPHA:99429
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Patchy alopecia, Sparse hair OMIM:617763
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair OMIM:617988
Ectodermal Dysplasia And Immunodeficiency 1
Aplasia of the eccrine sweat glands, Molluscum contagiosum, Sparse hair OMIM:300291
Borjeson-Forssman-Lehmann Syndrome
Decreased testicular size, Cryptorchidism, Thick eyebrow, Sparse hair ORPHA:127
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Dystrophic fingernails, Abnormal hair morphology, Skin rash, Eczematoid der... ORPHA:2314
Morgagni-Stewart-Morel Syndrome
Hirsutism, Osteoarthritis, Acne ORPHA:77296
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Incontinentia Pigmenti
Hypoplastic fingernail, Abnormal hair morphology, Abnormality of the nail, Hyperkeratosis, Dystro... ORPHA:464
Cardiofaciocutaneous Syndrome 1
Slow-growing hair, Hyperkeratosis, Absent eyelashes, Low posterior hairline, Curly hair, Absent e... OMIM:115150
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Hirsutism, Abnormality of the ovary, Acne ORPHA:2795
Dyskeratosis Congenita
Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Aplastic/hypoplastic toenail... ORPHA:1775
Retinoblastoma
Hyphema, Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage ORPHA:790
Classic Phenylketonuria
Hypopigmentation of hair, Eczematoid dermatitis ORPHA:79254
46,Xy Sex Reversal 6
Hirsutism, Sparse axillary hair OMIM:613762
Neonatal Lupus Erythematosus
Parakeratosis, Malar rash, Hyperkeratosis, Skin rash, Maculopapular exanthema ORPHA:398124
Acute Generalized Exanthematous Pustulosis
Cheilitis, Predominantly dermal neutrophilic infiltrate, Pustule, Conjunctivitis, Acantholysis, E... ORPHA:293173
Prolidase Deficiency
Facial hirsutism, Low posterior hairline, Eczematoid dermatitis, Recurrent pneumonia, Crusting er... OMIM:170100
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair OMIM:614105
Chromosome 5P13 Duplication Syndrome
Low posterior hairline, Sparse hair OMIM:613174
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Colitis OMIM:613148
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Arthritis, Eczematoid dermatitis, Erythroderma, Glomerulonephritis, Hepatitis, Alopecia OMIM:304790
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nail dystrophy, Gastritis, Myositis, Thyroiditis, Colitis, Tubulointerstitial nephritis, Eczemato... ORPHA:37042
Neonatal Inflammatory Skin And Bowel Disease
Slow-growing scalp hair, Chronic monilial nail infection, Recurrent bacterial skin infections, Ho... ORPHA:294023
Leptospirosis
Hypotension, Retinal hemorrhage, Pericarditis, Subconjunctival hemorrhage, Arrhythmia, First degr... ORPHA:509
Garg-Mishra Progeroid Syndrome
Sparse hair, Small nail OMIM:620601
Acrodermatitis Enteropathica
Cheilitis, Ridged nail, Abnormality of the nail, Blepharitis, Abnormal eyebrow morphology, Pustul... ORPHA:37
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Nail dysplasia, Decreased response to growth hormone stimulation test, Absence of Stensen duct, H... OMIM:129900
Ruijs-Aalfs Syndrome
Premature graying of hair, Sparse hair OMIM:616200
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Pruritus ORPHA:330064
Dyskeratosis Congenita, Autosomal Dominant 1
Premature graying of hair, Nail dystrophy, Ridged nail, Nail pits, Sparse hair, Interstitial pneu... OMIM:127550
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin ORPHA:90159
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Pustule, Erythroderma, Paronychia, Onychogryposis OMIM:614328
Cutis Laxa, Autosomal Recessive, Type Iiia
Cryptorchidism, Sparse hair OMIM:219150
Macs Syndrome
Recurrent aphthous stomatitis, Sparse eyebrow, Sparse hair, Bronchiectasis, Cryptorchidism, Alopecia OMIM:613075
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Scleritis, Cheilitis, Hypoplastic fingernail, Abnormal hair morphology, Hyperconvex fingernails, ... ORPHA:2273
Behcet Syndrome
Iritis, Arthritis, Patchy alopecia, Epididymitis, Iridocyclitis, Erythema nodosum OMIM:109650
Chondrodysplasia Punctata 2, X-Linked Dominant
Patchy alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Erythroderma OMIM:302960
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Thyroiditis, Patchy alopecia, Eczematoid dermatitis, Erythroderma, Alop... OMIM:606367
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Stomatitis, Hyperkeratosis, Skin rash, Pustule, Osteomyelitis OMIM:612852
Acute Radiation Syndrome
Interstitial pneumonitis, Hyperkeratosis, Inflammatory abnormality of the skin ORPHA:454831
Scarf Syndrome
Cryptorchidism, Hypoplastic nipples, Low posterior hairline, Sparse hair ORPHA:3134
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Retinal hemorrhage, Vasculitis in the skin, Punctate vasculitis skin... OMIM:192315
Cartilage-Hair Hypoplasia
Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse facial hair, Fine hair, Fair hair OMIM:250250
Combined Immunodeficiency-Enteropathy Spectrum
Nail dystrophy, Alopecia of scalp, Hypoplasia of the thymus, Absent eyebrow, Hashimoto thyroiditi... ORPHA:436252
Oculodentodigital Dysplasia
Brittle hair, Slow-growing hair, Abnormality of the nail, Curly hair, Abnormal fingernail morphol... ORPHA:2710
Chromosome 19Q13.11 Deletion Syndrome, Distal
Nail dysplasia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Cryptorchidism OMIM:613026
Aredyld Syndrome
Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Highly arched eyebrow, Retinal hemorrhage, Tricuspid regurgitation, Synophrys, Long eyelashes, Ce... OMIM:620371
Premature Aging Syndrome, Penttinen Type
Hyperkeratosis, Sparse hair, Palmoplantar hyperkeratosis OMIM:601812
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia totalis, Fine hair OMIM:613451
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Nail dysplasia, Fine hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow OMIM:614091
Retinitis Pigmentosa With Or Without Skeletal Anomalies
High anterior hairline, Small nail, Sparse eyelashes, Sparse eyebrow, Sparse hair OMIM:250410
Hatipoglu Immunodeficiency Syndrome
Premature graying of hair, Recurrent otitis media, Atopic dermatitis, Eczematoid dermatitis, Cryp... OMIM:620331
Biotinidase Deficiency
Seborrheic dermatitis, Skin rash, Conjunctivitis, Recurrent skin infections, Alopecia OMIM:253260
Leprosy
Iritis, Loss of eyelashes, Hyperkeratosis, Uveitis, Absent eyebrow, Sparse body hair, Testicular ... ORPHA:548
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus ORPHA:90158
Mandibuloacral Dysplasia
Hypoplastic fingernail, Sparse hair, Alopecia ORPHA:2457
Noonan Syndrome 14
Low posterior hairline, Curly hair, Sparse eyebrow, Sparse hair, Cryptorchidism OMIM:619745
Adams-Oliver Syndrome
Hypoplastic fingernail, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Alopecia ORPHA:974
Short Syndrome
Sparse hair, Alopecia ORPHA:3163
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Sparse hair, Brittle hair OMIM:608612
Scarf Syndrome
Hypoplastic nipples, Low posterior hairline, Low anterior hairline, Sparse hair, Cryptorchidism OMIM:312830
Osteogenesis Imperfecta, Type Xx
Highly arched eyebrow, Sparse lateral eyebrow, Sparse hair OMIM:618644
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Gastrointestinal hemorrhage, Cerebral hemorrhage, Retinal hemorrhage OMIM:177850
Agel Amyloidosis
Nail dystrophy, Keratoconjunctivitis sicca, Pruritus, Sparse hair ORPHA:85448
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Hirsutism, Synophrys, Long eyelashes, Thick eyebrow, Thin eyebrow, Sparse ... OMIM:615485
Marshall Syndrome
Sparse eyelashes, Sparse eyebrow, Osteoarthritis, Sparse hair ORPHA:560
Nablus Mask-Like Facial Syndrome
Highly arched eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse eyelashes, Sparse eyebrow, L... OMIM:608156
ERI1-related disease
Anonychia, Low anterior hairline, Sparse hair OMIM:608739
Ring Chromosome 12 Syndrome
Breast hypoplasia, Hirsutism, Dystrophic toenail, Acne, Cryptorchidism ORPHA:1439
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Breast hypoplasia, Alopecia of scalp, Small pituitary gland, Aplasia of the ovary, Cryptorchidism... ORPHA:2232
Chime Syndrome
Hyperkeratosis, Fine hair, Sparse hair ORPHA:3474
Hallermann-Streiff Syndrome
Abnormality of hair texture, Uveitis, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse ... ORPHA:2108
Mullerian Aplasia And Hyperandrogenism
Hirsutism, Acne OMIM:158330
Cutis Laxa, Autosomal Recessive, Type Iiib
Fine hair, Cryptorchidism, Sparse hair OMIM:614438
Atelis Syndrome 2
Pulmonic stenosis, Vitreous hemorrhage, Supravalvar pulmonary stenosis OMIM:620185
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent pneumonia, Recurrent otitis media, Inflammatory abnormality of the skin ORPHA:277
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Nail dystrophy, Annular pancreas, Absent eyelashes, Sparse scalp hair,... OMIM:268400
Central Retinal Vein Occlusion
Retinal neovascularization, Intraretinal hemorrhage ORPHA:411527
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Sparse hair OMIM:616449
Revesz Syndrome
Nail dystrophy, Nail pits, Ridged fingernail, Sparse hair, Fine hair OMIM:268130
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Sparse body hair ORPHA:3068
Rothmund-Thomson Syndrome Type 1
Nail dysplasia, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Alope... ORPHA:221008
Hamamy Syndrome
Abnormal number of hair whorls, Hypoparathyroidism, Low posterior hairline, Sparse eyelashes, Spa... OMIM:611174
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Sclerosing cholangitis, Molluscum contagiosum, Atopic dermatitis, Eosinop... OMIM:243700
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse eyelashes, Fine hair, Sparse hair OMIM:257850
Congenital Disorder Of Glycosylation, Type Iia
Hirsutism, Thick eyebrow, Sparse hair, Long eyelashes OMIM:212066
Phacoanaphylactic Uveitis
Hyphema, Retinal arteritis ORPHA:209959
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Chronic otitis media, Toenail dysplasia, Hirsutism, Synophrys, Eczematoid dermatitis, Sparse hair OMIM:300966
Gapo Syndrome
Nail dysplasia, Breast hypoplasia, Hypoplastic nipples, Sparse eyelashes, Sparse eyebrow, Sparse ... OMIM:230740
Meige Disease
Recurrent skin infections, Cobblestone-like hyperkeratosis, Recurrent bacterial skin infections ORPHA:90186
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Nail dystrophy, Alopecia, Palmoplantar keratoderma, Recurrent skin infections, Onychogryposis ORPHA:79396
Mixed Connective Tissue Disease
Myocarditis, Gastritis, Myositis, Arthritis, Skin rash, Pericarditis, Keratoconjunctivitis sicca,... ORPHA:809
Yao Syndrome
Arthritis, Skin rash, Pericarditis, Inflammatory abnormality of the skin, Keratoconjunctivitis si... OMIM:617321
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Coarse hair, Thick hair, Sparse hair ORPHA:357074
Nicolaides-Baraitser Syndrome
Sparse scalp hair, Low posterior hairline, Long eyelashes, Absent eyebrow, Eczematoid dermatitis,... OMIM:601358
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Restrictive cardiomyopathy, Retinal h... ORPHA:758
Cranioectodermal Dysplasia 3
Short nail, Fine hair, Broad nail, Sparse hair OMIM:614099
Craniolenticulosutural Dysplasia
Coarse hair, Sparse hair, Brittle hair ORPHA:50814
Monosomy 22
Aplasia of the thymus, Seborrheic dermatitis, Sparse hair, Synophrys ORPHA:96123
Refractory Anemia With Excess Blasts
Palpitations, Abnormal bleeding, Retinal hemorrhage ORPHA:86839
Holocarboxylase Synthetase Deficiency
Skin rash, Alopecia OMIM:253270
Rothmund-Thomson Syndrome Type 2
Nail dysplasia, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Alope... ORPHA:221016
Oculodentodigital Dysplasia
Slow-growing hair, Fragile nails, Sparse hair, Fine hair, Dry hair, Uveitis OMIM:164200
Rat-Bite Fever
Morbilliform rash, Myocarditis, Pancreatitis, Arthritis, Parotitis, Skin rash, Lymphadenitis, Per... ORPHA:31205
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Premature graying of hair, Nail dysplasia, Nail dystrophy, Sparse hair, Fine hair OMIM:612199
Fetal And Neonatal Alloimmune Thrombocytopenia
Spontaneous hematomas, Purpura, Abnormal bleeding, Gastrointestinal hemorrhage, Melena, Cephalohe... ORPHA:853
Fetal Cytomegalovirus Syndrome
Petechiae, Retinal hemorrhage ORPHA:294
Hereditary Acrokeratotic Poikiloderma
Nail dystrophy, Dystrophic fingernails, Dystrophic toenail, Keratoconjunctivitis, Eczematoid derm... ORPHA:2907
Glass Syndrome
Nail dysplasia, Sparse hair, Long eyelashes OMIM:612313
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High anterior hairline, Highly arched eyebrow, Slow-growing hair, Low posterior hairline, Curly h... OMIM:617506
Waldenström Macroglobulinemia
Congestive heart failure, Gastrointestinal hemorrhage, Purpura, Vasculitis, Gingival bleeding, Re... ORPHA:33226
Majeed Syndrome
Skin rash, Inflammatory abnormality of the skin, Osteomyelitis OMIM:609628
Immunodeficiency 59 And Hypoglycemia
High anterior hairline, Recurrent aphthous stomatitis, Arteritis, Herpes simplex encephalitis, Re... OMIM:233600
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Recurrent pneumonia, Sparse hair, Fine hair,... OMIM:234100
Weaver Syndrome
Thin nail, Deep-set nails, Sparse hair, Fine hair, Cryptorchidism, Hydrocele testis OMIM:277590
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Nail dysplasia, Breast hypoplasia, Sparse hair, Small nail OMIM:614813
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Nail dysplasia, Nail dystrophy, Dystrophic fingernails, Alopecia, Absent eyelashes, Hyperkeratosi... OMIM:308205
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Fine hair, Cryptorchidism, Sparse hair ORPHA:251028
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Absent eyelashes, Absent eyebrow, Sparse hair, Alopecia universalis ORPHA:363618
Estrogen Resistance
Polycystic ovaries, Acne, Breast aplasia OMIM:615363
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Thick eyebrow, Sparse hair, Synophrys OMIM:609460
Trichohepatoenteric Syndrome 1
Trichorrhexis nodosa, Brittle hair, Woolly hair, Curly hair, Sparse hair, Fine hair OMIM:222470
Teebi-Shaltout Syndrome
Highly arched eyebrow, Slow-growing hair, Low anterior hairline, Sparse hair OMIM:272950
Psoriasis-Related Juvenile Idiopathic Arthritis
Iritis, Malar rash, Skin rash, Oligoarthritis, Onycholysis, Nail pits, Sacroiliac arthritis, Enth... ORPHA:85436