banner
Genes Phenotypes Help, News, Blog

Gene: Gsdma3 MGI:3044668

Log in to follow

Gene Summary

Name:
gasdermin A3
Synonyms:
Fgn,  Bsk,  Rim3,  Gsdm3,  Rco2,  Dfl,  Gsdm1l

Order Alleles

IMPC Data Collections

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
increased mean corpuscular hemoglobin Gsdma3tm1(KOMP)Vlcg HOM Early adult 1.37×10-12
increased lymphocyte cell number Gsdma3tm1(KOMP)Vlcg HOM Early adult 8.31×10-08
increased mean corpuscular hemoglobin concentration Gsdma3tm1(KOMP)Vlcg HOM Early adult 1.91×10-12
decreased hematocrit Gsdma3tm1(KOMP)Vlcg HOM Early adult 2.40×10-06
decreased erythrocyte cell number Gsdma3tm1(KOMP)Vlcg HOM Early adult 1.20×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Gsdma3 mutations

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

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

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

The table below shows human diseases predicted to be associated to Gsdma3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody... ORPHA:3361
Atrichia With Papular Lesions
Sparse hair, Generalized papillary lesions OMIM:209500
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Hair-nail ectodermal dysplasia, Thin toenail, Dystrophic toenail, Sparse hair OMIM:614928
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair, Cutaneous photosensitivity OMIM:234030
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogryposis OMIM:617756
Keratosis, Focal Palmoplantar And Gingival
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis OMIM:617574
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair, Juvenile cataract OMIM:617251
Tooth Agenesis, Selective, 8
Dry skin, Sparse eyebrow, Sparse hair OMIM:617073
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Hypoplasia of the ear cartilage, Macrotia, Trichorrhexis nodosa, Spa... ORPHA:113
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum, Chronic furunculosis, Cutaneous abscess OMIM:619986
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Ichthyosis Vulgaris
Dry skin, Eczematoid dermatitis OMIM:146700
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Glycosylphosphatidylinositol Biosynthesis Defect 16
Elevated circulating alkaline phosphatase concentration OMIM:617816
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Hyperkeratosis ORPHA:2297
Woolly Hair, Autosomal Dominant
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... OMIM:194300
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Anonychia With Flexural Pigmentation
Dry skin, Anonychia OMIM:106750
Acne Inversa, Familial, 3
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation OMIM:613737
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Dry skin, Pallor, Facial e... OMIM:603165
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Ulerythema Ophryogenesis
Sparse lateral eyebrow, Dry skin, Facial erythema, Contact dermatitis, Acne ORPHA:3406
Olmsted Syndrome 1
Sparse hair, Alopecia universalis, Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratod... OMIM:614594
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Quinquaud Folliculitis Decalvans
Erythema, Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Recurre... ORPHA:346
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:615598
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Eczematoid dermatitis, Sparse body hair, Dry skin, Sparse eyelashes, Slow-growing hair, Pruritus,... OMIM:618535
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Coarse hair, Cutaneous photosensitivity OMIM:616390
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Alopecia of scalp, Anonychia, Follicular hyperkeratosis, Hyperkeratosis ORPHA:69125
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Nail dystrophy, Nail dysplasia, Palmoplantar hyperkeratosis, Hyperkeratosis, De... OMIM:212360
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Aredyld
Generalized hypotrichosis, Ectodermal dysplasia OMIM:207780
Monilethrix
Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular hyperkeratosis, Slo... ORPHA:573
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... OMIM:261900
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Pruritus, Scaling skin OMIM:105250
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin, Pruritus OMIM:617920
Hidrotic Ectodermal Dysplasia
Thickened skin, Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, ... ORPHA:189
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Congenital ichthyosiform erythroderma, Sparse body hair, Curly eyelashes, Brittle... OMIM:602400
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Elastoderma
Eczematoid dermatitis, Cutis laxa, Erysipelas, Premature skin wrinkling ORPHA:228240
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Dermatoleukodystrophy
Progeroid facial appearance, Macrotia, Premature skin wrinkling OMIM:221790
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Palmoplantar hyperkeratosis, Porokeratosis ORPHA:737
Dermoodontodysplasia
Nail dysplasia, Trichodysplasia, Dry skin OMIM:125640
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Erosive Pustular Dermatosis Of The Scalp
Pustule, Abnormal hair morphology, Scarring alopecia of scalp, Erythema ORPHA:222
Kerion Celsi
Alopecia, Inflammatory abnormality of the skin, Lymphadenopathy, Recurrent skin infections, Recur... ORPHA:499
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis ORPHA:735
Proliferating Trichilemmal Cyst
Skin ulcer, Sparse scalp hair ORPHA:492
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Intellectual Developmental Disorder, X-Linked 97
Macrotia, Synophrys OMIM:300803
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Protruding ear, Woolly hair, Sparse hair OMIM:278200
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... ORPHA:170
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sparse eye... OMIM:602540
Parana Hard Skin Syndrome
Generalized hirsutism, Thickened skin, Hyperkeratosis ORPHA:2812
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Dry skin, Abnormal... ORPHA:248
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma, Hyperkeratosis, Ichthyosis ORPHA:461
Dissecting Cellulitis Of The Scalp
Abnormal hair morphology, Pruritus, Recurrent skin infections ORPHA:345
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Ectodermal Dysplasia 5, Hair/Nail Type
Dystrophic fingernails, Hair-nail ectodermal dysplasia, Absent toenail, Sparse scalp hair OMIM:614927
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling skin, Scaling skin, Concave nail ORPHA:530838
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Hidrotic ectodermal dysplasia, Sensorineural hearing impairment, Brittle hair, Spars... ORPHA:1883
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Juvenile cataract, Absent eyelashes, Absent eyebrow, Thin nail, Sparse hair, Hype... OMIM:618625
Rodrigues Blindness
Microcornea, Fine hair, Protruding ear, Ectodermal dysplasia, Microphthalmia, Sclerocornea, Spars... OMIM:268320
L-Ferritin Deficiency
Alopecia OMIM:615604
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Nail dystrophy, Hyperkeratosis, Ichthyosis ORPHA:79503
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Dry skin, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair OMIM:129490
Otoonychoperoneal Syndrome
Low-set ears, Abnormality of the ear, Prominent superior crus of antihelix, Posteriorly rotated e... OMIM:259780
Chilblain Lupus 1
Abnormality of the nail, Skin ulcer, Chilblains OMIM:610448
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Peeling Skin Syndrome 3
Abnormal hair morphology, Erythema, White scaling skin, Pruritus OMIM:616265
Classic Mycosis Fungoides
Erythema, Alopecia, Eczematoid dermatitis, Skin ulcer, Dry skin, Skin rash, Pruritus, Abnormality... ORPHA:2584
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... ORPHA:1067
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Dermoids Of Cornea
Corneal opacity OMIM:304730
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Diffuse Palmoplantar Keratoderma, Bothnian Type
Erythema, Pruritus, Skin ulcer ORPHA:2337
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Eczematoid dermatitis, Sparse body hair, Congenital onychodystrop... ORPHA:2890
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin ORPHA:2271
Ichthyosis, X-Linked
Ichthyosis, Opacification of the corneal stroma, Palmoplantar keratoderma, Congenital ichthyosifo... OMIM:308100
Pili Torti
Alopecia, Hearing impairment, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality ... ORPHA:2889
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp ORPHA:79129
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Macdermot-Winter Syndrome
Highly arched eyebrow, Frontal upsweep of hair, Low anterior hairline, Posteriorly rotated ears, ... OMIM:247990
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Ichthyosis, Follicular hyperkeratosis, Brittle hair, Congenital nonbullous ic... OMIM:618546
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Generalized ichthyosis,... OMIM:615024
Erythrokeratodermia Variabilis
Cataract, Alopecia, Erythema, Abnormal hair morphology, Dry skin, Patchy palmoplantar hyperkerato... ORPHA:317
Peeling Skin Syndrome 1
Nail dystrophy, Onycholysis, Erythroderma, Scaling skin, Brittle hair, Pruritus OMIM:270300
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair OMIM:601553
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Palmoplantar keratoderma, Abnormal fingernail morphology, Focal frictio... ORPHA:2200
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... ORPHA:1808
Huriez Syndrome
Dry skin, Abnormality of the nail, Small nail, Lack of skin elasticity ORPHA:384
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Hair-nail ectodermal dysplasia, Sparse body hair, Cong... OMIM:602032
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Abnormal fingernail morphology, Diffuse palmoplantar hyperkeratosis, Palmoplanta... ORPHA:2199
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Acrocyanosis, Abnormality of the nail OMIM:302000
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,... OMIM:604117
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Nail pits, Ridged nail, Nail dystrophy OMIM:601705
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Candidiasis, Familial, 1
Alopecia OMIM:114580
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Congenital alopecia totalis, Dry skin, Alopecia of scalp, Cutis laxa, Absent pubi... ORPHA:2269
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Palmoplantar hyperhid... ORPHA:498359
Ectodermal Dysplasia 9, Hair/Nail Type
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... OMIM:614931
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Hair-nail ectodermal dysplasia, Dystro... OMIM:614929
Peeling Skin Syndrome 6
Atopic dermatitis, Scaling skin, Pruritus, Dry skin OMIM:618084
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Nail dystrophy OMIM:131850
X-Linked Dominant Chondrodysplasia Punctata
Low-set ears, Cataract, Sparse eyebrow, Coarse hair, Microcornea, Sparse eyelashes, Sensorineural... ORPHA:35173
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hyperg... ORPHA:79395
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase OMIM:254700
Moynahan Syndrome
Alopecia, Sparse hair, Hyperkeratosis ORPHA:2574
Acquired Ichthyosis
Dry skin, Pruritus, Recurrent skin infections, Erythema ORPHA:454
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Sparse hair, Premature skin wrinkling ORPHA:631
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Coarse hair, Thick eyebrow, Synophrys ORPHA:1021
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase OMIM:242880
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Folliculitis, Keratitis, Dry skin, Nail dystrophy, Sparse eyelashes, Dystrophic f... OMIM:308800
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Follicular hyperkeratosis, Hyperhidrosis, Sparse hair, Congenital bullo... OMIM:613576
Schopf-Schulz-Passarge Syndrome
Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Dry skin, Ridged nail, Narrow nail, ... OMIM:224750
Porphyria Cutanea Tarda
Alopecia, Facial hypertrichosis, Onycholysis, Fragile skin, Cutaneous photosensitivity OMIM:176100
Epidermolytic Hyperkeratosis 1
Erythroderma, Scaling skin OMIM:113800
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Alopecia, Eczematoid dermatitis, Cutaneous abscess, Chron... OMIM:618282
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Yellow nails, Palmoplantar keratoderma, Hypergranulosis, Nail dystrophy, Orthokeratotic hyperkera... OMIM:148700
Congenital Lethal Erythroderma
Dry skin, Congenital exfoliative erythroderma ORPHA:1954
Flynn-Aird Syndrome
Cataract, Alopecia, Hyperkeratosis, Alopecia of scalp OMIM:136300
Hypotrichosis 6
Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, Sparse hair OMIM:607903
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Abnormal testis morphology, Apla... ORPHA:202
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Absent toenail, Abnormal toenail... ORPHA:89838
Galactosialidosis
Corneal opacity ORPHA:351
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Nail dystrophy, Linear arrays of macular hyper... OMIM:601952
11P15.4 Microduplication Syndrome
Highly arched eyebrow, Posteriorly rotated ears, Macrotia, Synophrys ORPHA:300305
Microphthalmia, Syndromic 8
Microphthalmia, Microcornea, Premature skin wrinkling OMIM:601349
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Low alkaline phosphatase, High anterior hairline, Sparse lateral eyebrow, Elevated circulating al... OMIM:618879
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity OMIM:612631
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair ORPHA:1008
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Brittle hair, Pl... OMIM:104100
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Winchester Syndrome
Corneal opacity, Hirsutism OMIM:277950
Acrogeria
Skin ulcer, Fine hair, Excessive wrinkled skin, Telangiectasia of the skin, Prematurely aged appe... ORPHA:2500
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Iris coloboma, Microcornea, Follicular hyperkeratosis OMIM:615147
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Ichthyosis, Conjunctival hamartoma, Hyperkeratosis, Congenital bullous ... ORPHA:312
Dracunculiasis
Skin ulcer, Skin rash, Arthritis, Pruritus, Recurrent cutaneous abscess formation ORPHA:231
Clouston Syndrome
Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail d... OMIM:129500
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Ectodermal dysplasia... OMIM:604536
Otoonychoperoneal Syndrome
Aplasia/Hypoplasia of the earlobes, Abnormal helix morphology, Popliteal pterygium, Abnormal anti... ORPHA:2793
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Small nail, Trichorrhexis nodosa, Microphthalmia, Concave nail, Nail dystrophy, Spar... OMIM:234050
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Fine hair, Abnormal fingernail morphology, Hypohidrosis, Keratoconjunctivi... ORPHA:1806
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Dermoodontodysplasia
Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Dry skin, Trichodysplasia, Sparse scal... ORPHA:1660
Bazex-Dupre-Christol Syndrome
Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Trichoepithelioma OMIM:301845
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Enla... ORPHA:79414
Microphthalmia/Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase OMIM:162830
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Patchy alopecia, Hyperkeratosis OMIM:247100
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Paronychia, Perioral erythema, Pustule, Erythroderma, Blepharitis, Onychogryposis OMIM:614328
Hereditary Mucoepithelial Dysplasia
Cataract, Alopecia, Fine hair, Sparse hair, Hyperkeratosis, Corneal dystrophy ORPHA:1839
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Morquio Syndrome C
Corneal opacity OMIM:252300
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Palmoplantar... OMIM:300918
Woolly Hair-Skin Fragility Syndrome
Acantholysis, Woolly hair, Palmoplantar keratoderma OMIM:620415
Olmsted Syndrome 2
Alopecia universalis, Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Woolly ha... OMIM:619208
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Nail dystrophy, Brittle hair, Abnormal pinna morphology ORPHA:75389
Pierpont Syndrome
High anterior hairline, Microcornea, Hearing impairment, Excessive wrinkling of palmar skin, Abno... ORPHA:487825
Lamellar Ichthyosis
Dry skin, Lack of skin elasticity, Erythroderma, Aplasia/Hypoplasia of the eyebrow, Pruritus, Chr... ORPHA:313
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... ORPHA:1433
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Eczematoid dermatitis ORPHA:2101
Gómez-López-Hernández Syndrome
Low-set ears, Toenail dysplasia, Alopecia of scalp, Corneal opacity ORPHA:1532
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:617571
Acrokeratosis Verruciformis
Acrokeratosis, Acantholysis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis OMIM:101900
Verrucous Hemangioma
Hyperkeratotic papule ORPHA:464318
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... OMIM:117850
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Heinz bodies OMIM:614164
Cutis Laxa, Autosomal Recessive, Type Iia
Low-set ears, Coarse hair, Redundant skin, Excessive wrinkled skin, Cutis laxa, Brittle hair, Abn... OMIM:219200
Ring Chromosome 6 Syndrome
Low posterior hairline, Macrotia ORPHA:1448
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Distichiasis, Aged leonine appearance, Sparse hair, Absent lower eyelashes OMIM:227260
Warburg Micro Syndrome 1
Low-set ears, Facial hypertrichosis, Microcornea, Hypertrichosis, Developmental cataract, Microph... OMIM:600118
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Cole Disease
Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Abnormal hair m... OMIM:615522
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Incontinentia Pigmenti
Cataract, Alopecia, Coarse hair, Keratitis, Erythema, Fine hair, Supernumerary nipple, Breast apl... OMIM:308300
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly... OMIM:616099
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis ORPHA:79399
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration OMIM:606263
Ichthyosis With Erythrokeratoderma
Erythema, Leukonychia, Erythroderma, Scaling skin, Pruritus, Nail pits OMIM:620507
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczematoid dermatitis, Pustule, Erythroderma, Pruritus, Abnormality of ... ORPHA:2897
Ichthyosis With Confetti
Hypertrichosis, Hypoplastic nipples, Erythroderma, Scaling skin, Pruritus OMIM:609165
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Hidrotic Ectodermal Dysplasia, Halal Type
Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnormal toenail morpholo... ORPHA:1809
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Abnormal toenail morphology, Hyperke... ORPHA:494
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Skin ulcer, Malar rash, Skin rash, Prur... ORPHA:90280
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Netherton Syndrome
Sparse eyebrow, Eczematoid dermatitis, Fine hair, Abnormal hair morphology, Trichorrhexis nodosa,... ORPHA:634
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Trichiasis, Sparse eyebrow, Keratitis, Corneal scarring, Ichthyosis, Nail dystrophy, Sparse eyela... OMIM:148210
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Congenital ichthyosiform erythroderma, Ichthyosis, Nail dystrophy, Parakeratosis, Nail ... OMIM:242300
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Sparse hair, Urt... ORPHA:2251
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Infantile Digital Fibromatosis
Parakeratosis, Hyperkeratosis ORPHA:199267
Schöpf-Schulz-Passarge Syndrome
Alopecia, Facial telangiectasia, Ectodermal dysplasia, Aplasia/Hypoplasia of the eyebrow, Sparse ... ORPHA:50944
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis, Corneal opacity ORPHA:281090
Bathing Suit Ichthyosis
Thickened skin, Alopecia, Ichthyosis, Nail dystrophy, Parakeratosis, Hypohidrosis, Palmoplantar h... ORPHA:100976
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Generalized hirsutism, Osteomyelitis, Skin ulcer ORPHA:2218
Cornea Plana 2, Autosomal Recessive
Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... OMIM:217300
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Trisomy 4P
Low-set, posteriorly rotated ears, Thick eyebrow, Abnormal antihelix morphology, Low anterior hai... ORPHA:1738
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Ectopia lentis, Abnormal fingernail morphology, Fingernail dysplasia... ORPHA:2325
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Mucoepithelial Dysplasia, Hereditary
Cataract, Alopecia, Coarse hair, Hearing impairment, Chronic monilial nail infection, Opacificati... OMIM:158310
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Pili torti, Brittle hair, Hyperkeratosis, Sparse scalp hair ORPHA:1573
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Alopecia, Sparse eyebrow, Keratitis, Nail dystrophy, Sparse eyelashes, Nail dysplasia, ... OMIM:612843
Fetal Hydantoin Syndrome
Coarse hair, Hypoplastic fingernail, Low-set, posteriorly rotated ears, Hearing abnormality, Low ... ORPHA:1912
Tyrosinemia Type 2
Palmoplantar keratoderma, Hyperhidrosis, Corneal opacity, Hyperkeratosis, Abnormality of the nail ORPHA:28378
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Macrotia, Cataract OMIM:616154
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Small nail, Hypergranu... OMIM:242100
Oliver-Mcfarlane Syndrome
Alopecia, Central heterochromia, Long eyelashes, Long eyebrows, Sparse hair OMIM:275400
Gorlin-Chaudhry-Moss Syndrome
Coarse hair, Conductive hearing impairment, Astigmatism, Low anterior hairline, Generalized hirsu... ORPHA:2095
Cardiofaciocutaneous Syndrome 2
Low-set ears, Fine hair, Absent eyebrow, Curly hair, Sparse hair, Posteriorly rotated ears OMIM:615278
Hypotrichosis Simplex Of The Scalp
Sparse scalp hair, Fine hair, Alopecia of scalp, Parakeratosis, Hyperkeratosis, Slow-growing scal... ORPHA:90368
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Maculopapular exanthema, Crusting erythematous dermatitis, ... ORPHA:79147
Pseudopelade Of Brocq
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S... ORPHA:129
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Lack of skin elasticity, Nail dystrophy, Cataract ORPHA:1366
Intellectual Developmental Disorder, Autosomal Dominant 34
Synophrys, Coarse hair, Hearing impairment, Curly hair OMIM:616351
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Alopecia-Intellectual Disability Syndrome
Alopecia, Hearing impairment, Sparse body hair, Macrotia, Aplasia/Hypoplasia of the eyebrow, Spar... ORPHA:2850
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Leukonychia, Nail dystrophy, Anonychia, Punctate palmoplantar hyperkeratosis, Hy... ORPHA:79151
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio... OMIM:269400
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Hypohidrosis, Sp... ORPHA:1882
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Small nail, Fine hair, Trichorrhexis nodosa, Dry skin, Tiger tail banding,... OMIM:601675
Hypotrichosis 9
Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc... OMIM:614237
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Trichodental Dysplasia
Sparse hair, Slow-growing hair, Fine hair, Brittle hair OMIM:601453
Ramon Syndrome
Generalized hirsutism, Hyperkeratosis, Abnormal anterior chamber morphology ORPHA:3019
Deafness, X-Linked 7
Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can... OMIM:301018
Galloway-Mowat Syndrome 9
Low-set ears, Coarse hair, Macrotia OMIM:619603
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Alopecia, Recurrent sinusitis, Pyoderma gangrenosum, Rec... OMIM:616576
Porokeratosis 3, Multiple Types
Parakeratosis, Nail dystrophy, Porokeratosis OMIM:175900
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Chilblain Lupus 2
Cutaneous photosensitivity, Chilblains OMIM:614415
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Intellectual Developmental Disorder, X-Linked 45
Protruding ear, Macrotia OMIM:300498
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Macrotia, Juvenile cataract ORPHA:438178
Aicardi-Goutieres Syndrome 5
Dry skin, Chilblains, Scaling skin OMIM:612952
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Hyperkeratosis, Iris coloboma, Sparse scalp hair ORPHA:2611
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Dry skin OMIM:218650
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelas... ORPHA:1818
Palmoplantar Keratoderma, Epidermolytic, 2
Curly hair OMIM:620411
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Hyperkeratosis OMIM:607936
Ichthyosis, Annular Epidermolytic, 1
Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Ichthyosis, Palmoplantar hyperkerat... OMIM:607602
Progeroid Syndrome, Petty Type
Abnormal hair morphology, Low-set, posteriorly rotated ears, Prematurely aged appearance, Thick e... ORPHA:2963
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Ichthyosis, Congenital, Autosomal Recessive 8
Ichthyosis, Orthokeratosis, Hyperkeratosis, Hypergranulosis OMIM:613943
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair, Thin skin ORPHA:2985
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Hearing impairment, Fine hair, Fragile nails ORPHA:500166
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Microcornea, Follicular hyperkeratosis ORPHA:300179
Combined Oxidative Phosphorylation Deficiency 36
Low-set ears, Sensorineural hearing impairment, Premature skin wrinkling OMIM:617950
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Pemphigus Foliaceus
Erythema, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Skin vesicle, Eryth... ORPHA:79481
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Follicular... OMIM:613102
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Leukonychia, Hyperkeratosis OMIM:617525
Complex Regional Pain Syndrome
Erythema, Slow-growing nails, Abnormality of hair growth, Dry skin ORPHA:83452
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Chronic Actinic Dermatitis
Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Pruritus ORPHA:330064
Phenylketonuria
Fair hair, Eczematoid dermatitis, Dry skin OMIM:261600
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly
Onychogryposis of toenails, Dry skin, Sparse eyebrow OMIM:600906
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Low-set ears, Coarse hair, Prominent veins on trunk, Redundant skin, Excessive wrinkled skin, Red... ORPHA:357074
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Nail dystrophy, Nail dysplasia, Skin fragility with non-scarring blistering, Cutaneous ... ORPHA:79397
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Bitot spots of the conjunctiva, Follicular hyperkeratosis OMIM:277350
Carvajal Syndrome
Woolly hair ORPHA:65282
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary OMIM:241090
Mucopolysaccharidosis, Type Iiib
Hirsutism, Coarse hair, Hearing impairment, Synophrys OMIM:252920
Foveal Hypoplasia 2
Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia OMIM:609218
Lichen Planopilaris
Alopecia, Pterygium, Abnormal fingernail morphology, Onycholysis, Hyperkeratosis ORPHA:525
Sjögren-Larsson Syndrome
Hyperkeratosis, Ichthyosis, Corneal erosion ORPHA:816
Epidermolysis Bullosa, Junctional 5A, Intermediate
Alopecia of scalp, Nail dystrophy, Onychogryposis, Absent pubic hair, Absent axillary hair, Onych... OMIM:619816
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Anophthalmia, Microphthalmia OMIM:616428
Hurler-Scheie Syndrome
Splenomegaly, Generalized hirsutism, Abnormality of the tonsils, Corneal opacity, Hepatomegaly, R... ORPHA:93476
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Palmoplantar keratoderma, Leukonychia, Ichthyosis, Nail dystrophy, Parakeratosis, Woolly hair, Hy... OMIM:615821
Cerebrooculofacioskeletal Syndrome 3
Low-set ears, Cutaneous photosensitivity, Microphthalmia OMIM:616570
Sézary Syndrome
Alopecia, Dry skin, Nail dystrophy, Erythroderma, Pruritus ORPHA:3162
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Posteriorly rotated ears, Macrotia OMIM:618392
Multiple Sulfatase Deficiency
Cataract, Coarse hair, Thick eyebrow, Sensorineural hearing impairment, Corneal opacity ORPHA:585
Weaver Syndrome
Fine hair, Abnormal fingernail morphology, Low-set, posteriorly rotated ears, Redundant skin, Hyp... ORPHA:3447
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis OMIM:173200
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Mucopolysaccharidosis, Type Iiia
Hirsutism, Coarse hair, Hearing impairment, Synophrys OMIM:252900
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Mucopolysaccharidosis, Type Iiic
Coarse hair, Hearing impairment, Hypertrichosis, Hirsutism, Synophrys OMIM:252930
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Alopecia, Palmar telangiectasia, Absent eyelashes, Absent eyebro... OMIM:607823
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Sensorineural hearing impairment, Posterior embryotoxon, Corneal opacity, Microphthalmi... ORPHA:1473
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... OMIM:616829
Cutis Laxa, Autosomal Dominant 3
Low-set ears, Premature skin wrinkling, Protruding ear, Cutis laxa, Developmental cataract, Corne... OMIM:616603
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Sparse lateral eyebrow, Astigmatism, Microphthalmia, Macrotia OMIM:619694
Riddle Syndrome
Dry skin OMIM:611943
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Sparse lateral eyebrow, Periorbital wrinkles, Sparse body hair, Dry skin, Sparse e... OMIM:614941
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin ORPHA:1184
Familial Melanoma
Abnormal hair morphology, Dry skin ORPHA:618
X-Linked Intellectual Disability, Porteous Type
Frontal balding, Macrotia, Cupped ear ORPHA:93945
Immunodeficiency 104
Pneumonia, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Sple... OMIM:608971
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Erythroderma, Pruritus, Abnormality of the nail ORPHA:79394
Hypotrichosis 14
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes OMIM:618275
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis OMIM:133200
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Intellectual Developmental Disorder, Autosomal Recessive 39
Anteverted ears, Macrotia, Synophrys OMIM:615541
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Adams-Oliver Syndrome 4
Cutis marmorata, Toenail dysplasia, Hypoplastic toenails, Microphthalmia OMIM:615297
Erythrokeratodermia Variabilis Et Progressiva 6
Abnormal hair morphology, Parakeratosis OMIM:618531
Ectodermal Dysplasia 13, Hair/Tooth Type
Thin eyebrow, Sparse eyelashes, Low anterior hairline, Ectodermal dysplasia, Brittle hair OMIM:617392
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
High anterior hairline, Dry hair, Coarse hair, Nail dystrophy, Woolly scalp hair, Onycholysis, Co... OMIM:620519
Palmoplantar Keratoderma, Epidermolytic, 1
Plantar hyperkeratosis, Localized epidermolytic hyperkeratosis, Palmoplantar hyperkeratosis, Palm... OMIM:144200
Abruzzo-Erickson Syndrome
Protruding ear, Hearing impairment, Macrotia OMIM:302905
Papa Syndrome
Skin ulcer, Crohn's disease, Increased inflammatory response, Pustule, Myositis, Arthritis, Acne ORPHA:69126
Transaldolase Deficiency
Premature skin wrinkling, Hepatosplenomegaly, Telangiectasia, Cirrhosis, Thrombocytopenia, Anemia ORPHA:101028
Hereditary Bullous Dystrophy, Macular Type
Cataract, Alopecia, Atrichia, Nail dystrophy, Corneal opacity, Acrocyanosis, Congenital abnormal ... ORPHA:1867
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Alopecia, Eczematoid dermatitis, Long eyelashes, Curly eyelashes, Cryptorc... ORPHA:3051
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia ORPHA:79402
Microphthalmia/Coloboma 9
Low-set ears, Microcornea, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea, Iris... OMIM:615145
Lower Limb Malformation-Hypospadias Syndrome
Low-set, posteriorly rotated ears, Macrotia ORPHA:2487
Congenital Heart Defects And Ectodermal Dysplasia
High anterior hairline, Dry skin, Medial flaring of the eyebrow, Sparse scalp hair, Fragile nails OMIM:617364
Bone Marrow Failure Syndrome 4
Dry skin, Eczematoid dermatitis OMIM:618116
Spinocerebellar Ataxia-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Coarse hair ORPHA:1185
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Fragile skin, Eczematoid dermatitis, Hypertrichosis OMIM:176090
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Kondoh Syndrome
Sparse hair, Thick eyebrow, Widow's peak OMIM:606242
Fryns Microphthalmia Syndrome
Anophthalmia, Macrotia, Microphthalmia OMIM:600776
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Ifap Syndrome 2
Cataract, Atrichia, Keratitis, Perioral erythema, Nail dystrophy, Keratoconjunctivitis sicca, Spa... OMIM:619016
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma OMIM:146590
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Intellectual Disability, Wolff Type
Low posterior hairline, Hypoplastic superior helix, Abnormality of the nail, Macrotia ORPHA:3080
Acrodermatitis Enteropathica
Erythema, Alopecia, Blepharitis, Ridged fingernail, Skin ulcer, Abnormal eyebrow morphology, Ridg... ORPHA:37
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Microphthalmia, Syndromic 13
Anteverted ears, Microcornea, Iris coloboma, Microphthalmia OMIM:300915
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o... OMIM:604229
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract, Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Nail dysplasia, Hypohidrosis, H... OMIM:615704
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Dry skin, Alopecia of scalp, Low posterior hairline, Abnormal hair qua... ORPHA:2617
Xeroderma Pigmentosum, Complementation Group G
Cataract, Cutaneous photosensitivity, Microphthalmia OMIM:278780
Bullous Impetigo
Pustule, Erythema, Septic arthritis, Recurrent bacterial skin infections ORPHA:36237
Hall-Riggs Syndrome
Coarse hair, Thick hair, Slow-growing hair ORPHA:2107
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Hyperkeratosis Lenticularis Perstans
Pruritus, Skin ulcer ORPHA:409
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Harlequin Ichthyosis
Ichthyosis, Cataract, Hyperkeratosis, Congenital ichthyosiform erythroderma ORPHA:457
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Alopecia Totalis
Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonychia, Nail pits, Fragile nails ORPHA:700
Centrifugal Lipodystrophy
Erythema, Alopecia, Reduced subcutaneous adipose tissue, Lack of facial subcutaneous fat, Scaling... ORPHA:90156
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Limbal stem cell deficiency, Corneal neovascularization, Nail dystrophy... OMIM:615225
Microcephaly 17, Primary, Autosomal Recessive
Macrotia, Low anterior hairline OMIM:617090
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent nipple, Absent hair, Dry skin, Brittle hair, Sparse hair OMIM:614940
Bcard Syndrome
Low-set ears, Cataract, Coarse hair, Bruising susceptibility, Sensorineural hearing impairment, N... OMIM:612394
Myoclonic-Astatic Epilepsy
Microphthalmia, Frontal balding, Premature skin wrinkling ORPHA:1942
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Intellectual Developmental Disorder, X-Linked 9
Macrotia OMIM:309549
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Low-set ears, Cataract, Macrotia ORPHA:3433
Pressure-Induced Localized Lipoatrophy
Erythema, Inflammatory abnormality of the skin ORPHA:90160
Cerebrooculofacioskeletal Syndrome 2
Cataract, Hearing impairment, Developmental cataract, Microphthalmia, Sparse hair, Cutaneous phot... OMIM:610756
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Nail dystrophy, Abnormal toenail morphology ORPHA:89843
Short Syndrome
Alopecia, Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Excessive wrinkled ski... ORPHA:3163
Chondrodysplasia Punctata, Autosomal Dominant
Cataract, Sparse hair, Coarse hair OMIM:118650
Omenn Syndrome
Pneumonia, Alopecia, Dry skin, Erythroderma, Aplasia/Hypoplasia of the eyebrow, Pruritus, Thyroid... ORPHA:39041
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Alopecia, Large fleshy ears OMIM:203550
Microphthalmia/Coloboma 7
Iris coloboma, Microphthalmia OMIM:614497
Distal Duplication 6P
Low-set ears, Cataract, Aplasia/Hypoplasia of the earlobes, Fine hair, Dry skin, Abnormal antitra... ORPHA:1745
Gombo Syndrome