Gene Summary

Name:
integrin beta 6
Synonyms:
2210409C20Rik,  4831415H04Rik

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
abnormal tooth color Itgb6em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal inspiratory capacity Itgb6em1(IMPC)Ccpcz HOM   Early adult 9.77×10-05
decreased body weight Itgb6em1(IMPC)Ccpcz HOM Early adult 1.10×10-07
increased lung compliance Itgb6em1(IMPC)Ccpcz HOM Early adult 3.12×10-07
decreased respiratory quotient Itgb6em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal digit morphology Itgb6em1(IMPC)Ccpcz HOM Early adult 5.16×10-10
increased freezing behavior Itgb6em1(IMPC)Ccpcz HOM Early adult 9.84×10-05
abnormal skin morphology Itgb6em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal eye morphology Itgb6em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal tooth morphology Itgb6em1(IMPC)Ccpcz HOM Early adult 0.00
anophthalmia Itgb6em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Itgb6em1(IMPC)Ccpcz HOM Early adult 0.00
decreased lung elastance Itgb6em1(IMPC)Ccpcz HOM Early adult 2.54×10-08
abnormal thymus morphology Itgb6em1(IMPC)Ccpcz HOM Early adult 0.00
decreased lung tissue damping Itgb6em1(IMPC)Ccpcz HOM Early adult 2.08×10-06
increased circulating alanine transaminase level Itgb6em1(IMPC)Ccpcz HOM Early adult 1.40×10-05
increased circulating creatine kinase level Itgb6em1(IMPC)Ccpcz HOM Early adult 5.97×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

Human diseases caused by Itgb6 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 Itgb6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Alopecia-Intellectual Disability Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair ORPHA:2850

The table below shows human diseases predicted to be associated to Itgb6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
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
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Kerion Celsi
Alopecia, Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous ab... ORPHA:499
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Recurrent skin in... ORPHA:346
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
L-Ferritin Deficiency
Alopecia OMIM:615604
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Pseudopelade Of Brocq
Alopecia, Abnormal hair morphology, Recurrent skin infections, Aplasia/Hypoplasia of the eyebrow,... ORPHA:129
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Periodontitis, Sparse body hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:1008
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Allergic Bronchopulmonary Aspergillosis
Emphysema, Bronchiectasis ORPHA:1164
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Acrootoocular Syndrome
Micrognathia, Anodontia, Small thenar eminence, Short foot, Short metacarpal, High, narrow palate... ORPHA:2980
Bronchopulmonary Dysplasia
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis ORPHA:70589
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Nail pits, Ridged nail, Nail dystrophy OMIM:601705
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp ORPHA:79129
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary ... OMIM:612387
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Alopecia, Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopulmonary i... OMIM:616576
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, Microphthalmia, Hi... OMIM:206920
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Cortisone Reductase Deficiency 1
Alopecia, Acne, Hirsutism OMIM:604931
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Recurrent respir... ORPHA:1882
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Decreased n... ORPHA:69087
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... ORPHA:1946
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... OMIM:129500
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... ORPHA:248
Alopecia Totalis
Inflammation of the large intestine, Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonyc... ORPHA:700
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Nail dysplasia, Pulmonary fibrosis OMIM:615704
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Anophthalmia, Cryptorchidism, Microphthalmia, Cleft palate OMIM:615524
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Den Hoed-De Boer-Voisin Syndrome
Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Sa... OMIM:619229
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Eczematoid dermatitis, Sparse body hair, Congenital onychodystrop... ORPHA:2890
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Zinc Deficiency, Transient Neonatal
Alopecia, Eczematoid dermatitis OMIM:608118
Usher Syndrome Type 2
Carious teeth, Depression, Abnormal dental enamel morphology, Microdontia, Abnormality of dental ... ORPHA:231178
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Jalili Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta ORPHA:1873
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Mitten deformity, Enamel hypoplasia ORPHA:251393
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections OMIM:242700
Microphthalmia/Coloboma 5
Orofacial cleft, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyebrow, Folliculitis, Keratitis, Nail dystrophy, Sparse eyelashes, Nail dysplas... OMIM:612843
Oliver-Mcfarlane Syndrome
Long eyelashes, Long eyebrows, Alopecia, Sparse hair OMIM:275400
Porphyria Cutanea Tarda
Alopecia, Onycholysis, Facial hypertrichosis OMIM:176100
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Sparse hair ORPHA:2251
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Andersen-Tawil Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Small hand, Dental crowding, Persistence... ORPHA:37553
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to... ORPHA:2325
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Epidermolysis Bullosa, Junctional 5A, Intermediate
Alopecia of scalp, Nail dystrophy, Onychogryposis, Absent pubic hair, Absent axillary hair, Onych... OMIM:619816
Hypophosphatasia
Emphysema ORPHA:436
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Alopecia, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chron... OMIM:618282
Alpha-1-Antitrypsin Deficiency
Emphysema, Bronchiectasis, Bronchitis ORPHA:60
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair OMIM:104100
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Shor... ORPHA:1106
Jalili Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis OMIM:217080
Alopecia Universalis
Alopecia universalis, Atopic dermatitis, Psoriasiform dermatitis, Absent eyelashes, Patchy alopec... ORPHA:701
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Everted lower lip vermilion, Abnormal spaced incisors, Thick vermilion border, Shor... ORPHA:411986
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Cryptorchidism, Microphthalmia, Cleft palate OMIM:164180
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip... ORPHA:93323
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Retrognathia, Micromelia, Micrognathia, Crypto... ORPHA:2189
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Trisomy 13
High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Long p... ORPHA:3378
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Bowing of the long bo... ORPHA:2501
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Carious teeth, Widely spaced teeth, Hypoplasia of the capital femoral epi... OMIM:253010
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormal dental morphology, Hypophosphatemic rickets, Abnormal finger morphology, Abnormality of ... OMIM:163200
Idiopathic Trachyonychia
Atopic dermatitis, Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy a... ORPHA:79153
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Carious teeth, Widely spaced teeth, Grayish enamel, Wide mouth, Genu valg... OMIM:253000
Meckel Syndrome, Type 8
Cleft upper lip, Anophthalmia, Polydactyly, Talipes equinovarus, Microphthalmia, Cleft palate OMIM:613885
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development
Alopecia OMIM:242510
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal palate morphology, Abnormal digi... ORPHA:208441
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Alopecia, Sparse hair ORPHA:3363
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Nail dystrophy, Nail dysplasia OMIM:212360
Cerebrooculonasal Syndrome
Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia, Solitary median maxillary central ... ORPHA:66625
Immunodeficiency 89 And Autoimmunity
Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening OMIM:619632
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair ORPHA:2985
Usher Syndrome
Carious teeth, Depression, Abnormal dental enamel morphology, Microdontia, Abnormality of dental ... ORPHA:886
Hereditary Mucoepithelial Dysplasia
Alopecia, Fine hair, Pulmonary fibrosis, Recurrent respiratory infections, Sparse hair ORPHA:1839
Erythrokeratodermia Variabilis
Alopecia, Abnormal hair morphology, Skin rash, Generalized hirsutism, Abnormality of the nail ORPHA:317
Mucopolysaccharidosis Type 4
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Abnormal dental ename... ORPHA:582
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Alopecia, Atrichia, Nail dystrophy, Congenital abnormal hair pattern ORPHA:1867
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Alopecia, Nail dystrophy ORPHA:79397
Cockayne Syndrome Type 2
Widely spaced primary teeth, Hypoplasia of the primary teeth, Cryptorchidism, Anophthalmia, Delay... ORPHA:90322
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Schöpf-Schulz-Passarge Syndrome
Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Anencephaly 2
Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate, Anophthalmia OMIM:619452
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse body hair, Pleural effusion, Absent eyelashes, Absent eyebrow, Sparse scalp hair ORPHA:69735
Systemic Lupus Erythematosus 17
Optic neuritis, Alopecia, Malar rash, Myelitis OMIM:301080
Alopecia-Intellectual Disability Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair ORPHA:2850
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Erythroderma OMIM:618840
Netherton Syndrome
Emphysema, Recurrent respiratory infections ORPHA:634
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Cryptorchidism, Anophthalmia, Microphthalmia, High... ORPHA:139471
Osteogenesis Imperfecta
Carious teeth, Abnormal tibia morphology, Micrognathia, Genu valgum, Bowing of the long bones, Di... ORPHA:666
X-Linked Agammaglobulinemia
Alopecia, Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Recurrent cutaneous abscess f... ORPHA:47
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Nail dystrophy, Nail dysplasia, Erythroderma, Sparse hair OMIM:242300
Fryns Microphthalmia Syndrome
Microphthalmia, Bilateral cleft lip, Anophthalmia, Bilateral cleft palate OMIM:600776
Congenital Ichthyosiform Erythroderma
Erythroderma, Alopecia, Keratitis, Abnormality of the nail ORPHA:79394
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Osteomyelitis, Anterior cervical hypertrichosis OMIM:239840
Pyle Disease
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... OMIM:265900
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Microretrognathia, Advanced ossification of carpal bones, Short femoral neck, Toot... OMIM:618363
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Hypocomplementemic Urticarial Vasculitis
Emphysema, Pleural effusion ORPHA:36412
Cockayne Syndrome Type 1
Abnormality of the dentition, Failure to thrive, Widely spaced primary teeth, Hypoplasia of the p... ORPHA:90321
Classic Mycosis Fungoides
Skin rash, Alopecia, Eczematoid dermatitis, Abnormality of the nail ORPHA:2584
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Eczematoid dermatitis OMIM:617443
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Bilateral cleft palate, Non-midline cleft of the upper lip, Cl... ORPHA:1104
Familial Spontaneous Pneumothorax
Abnormal pleura morphology, Pneumothorax ORPHA:2903
Trisomy 1Q
Microretrognathia, Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Narrow mou... ORPHA:261344
Keutel Syndrome
Alopecia, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... ORPHA:85202
Solitary Median Maxillary Central Incisor
Cleft upper lip, Decreased response to growth hormone stimulation test, Prominent median palatal ... OMIM:147250
Centrifugal Lipodystrophy
Alopecia, Inflammatory abnormality of the skin, Lymphadenitis ORPHA:90156
Olmsted Syndrome, X-Linked
Alopecia totalis, Subungual hyperkeratosis, Posterior blepharitis, Blepharitis OMIM:300918
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Alopecia, Eczematoid dermatitis, Long eyelashes, Curly eyelashes, Abnormal... ORPHA:3051
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Sparse scalp hair, Fine hair, Alopecia of scalp, Slow-growi... ORPHA:90368
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Common Variable Immunodeficiency
Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Bronchiectasis ORPHA:1572
Walker-Warburg Syndrome
Bifid uvula, Abnormal circulating creatine kinase concentration, Cryptorchidism, Submucous cleft ... ORPHA:899
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Congenital alopecia totalis, Alopecia of scalp, Absent pubic hair, Absent axillar... ORPHA:2269
Lichen Planopilaris
Abnormal fingernail morphology, Alopecia, Hepatitis, Onycholysis ORPHA:525
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Broad thumb, Short 5th toe, Prom... OMIM:613684
Keratoderma Hereditarium Mutilans
Alopecia, Abnormality of the nail, Abnormal toenail morphology ORPHA:494
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Abnormality of the n... OMIM:607823
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Alopecia, Coarse hair, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Chronic... OMIM:158310
Immunodeficiency, Common Variable, 10
Recurrent pneumonia, Recurrent otitis media, Alopecia totalis, Psoriasiform dermatitis, Recurrent... OMIM:615577
Epidermolysis Bullosa, Junctional 1A, Intermediate
Patchy alopecia, Nail dystrophy, Fragile nails OMIM:226650
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Enamel-Renal Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... ORPHA:1031
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections OMIM:219100
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Downturned corners of mouth, Finger syndactyly, Optic nerve aplasia, Short 5th me... ORPHA:264200
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Alopecia OMIM:203550
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Trichotillomania
Alopecia OMIM:613229
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toena... ORPHA:2930
Sézary Syndrome
Alopecia, Erythroderma, Nail dystrophy, Abnormal pleura morphology ORPHA:3162
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent sinusit... OMIM:615559
Olmsted Syndrome 2
Cheilitis, Alopecia universalis, Sparse hair, Woolly hair OMIM:619208
Porphyria, Congenital Erythropoietic
Cholelithiasis, Joint contracture of the hand, Erythrodontia, Elevated circulating uroporphyrin c... OMIM:263700
Bathing Suit Ichthyosis
Alopecia, Sparse hair, Erythroderma, Nail dystrophy ORPHA:100976
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis OMIM:614564
Alpha-Heavy Chain Disease
Alopecia ORPHA:100025
Microphthalmia, Syndromic 2
Hand clenching, Cryptorchidism, Anophthalmia, Decreased body weight, Contracture of the proximal ... OMIM:300166
Cutis Laxa, Autosomal Dominant 1
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis OMIM:123700
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Nail dystrophy ORPHA:1366
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Elbow dislocation, Failure to thrive, Short thumb, Abnormal morphology of the ... ORPHA:2538
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Cryptorchidism, Anophthalmia, Abnormal spleen morphology, Mi... ORPHA:2470
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Recurrent resp... ORPHA:538
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Nail dystrophy, Pulmonary artery stenosis, Brittle hair ORPHA:75389
Autoimmune Polyendocrinopathy Type 2
Hashimoto thyroiditis, Alopecia ORPHA:3143
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Hypoplasia of the maxilla, Ulnar deviation of finger, Long philtrum, Camptod... ORPHA:1101
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Surfactant Metabolism Dysfunction, Pulmonary, 4
Intraalveolar phospholipid accumulation OMIM:300770
Congenital Erythropoietic Porphyria
Erythrodontia, Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, R... ORPHA:79277
Hypotrichosis 14
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes OMIM:618275
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Holoprosencephaly 9
Hypoplasia of the premaxilla, Cryptorchidism, Anophthalmia, Bilateral cleft palate, Short hard pa... OMIM:610829
Hypomelanosis Of Ito
Alopecia OMIM:300337
Holoprosencephaly
Hypoplasia of the zygomatic bone, Tooth agenesis, Failure to thrive in infancy, Panhypopituitaris... ORPHA:2162
Omenn Syndrome
Pneumonia, Alopecia, Erythroderma, Aplasia/Hypoplasia of the eyebrow, Thyroiditis ORPHA:39041
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis med... ORPHA:293978
Mixed Connective Tissue Disease
Alopecia, Skin rash, Myositis, Gastritis, Keratoconjunctivitis sicca, Arthritis, Myocarditis, Abn... ORPHA:809
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Cryptorchidism, Microphthalmia, Cleft palate, Optic ne... OMIM:610125
Focal Dermal Hypoplasia
Toe syndactyly, Supernumerary nipple, Cryptorchidism, Anophthalmia, Microphthalmia, Foot polydact... OMIM:305600
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Pulmonary hypo... OMIM:613177
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Delayed eruption o... OMIM:277440
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Nail dystrophy, Dyst... ORPHA:3253
Cerebrooculonasal Syndrome
Narrow palate, Downturned corners of mouth, Long philtrum, Malar flattening, Anophthalmia, Solita... OMIM:605627
Holocarboxylase Synthetase Deficiency
Perioral eczema, Alopecia, Eczematoid dermatitis, Keratoconjunctivitis ORPHA:79242
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... ORPHA:79126
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Hyp... OMIM:257850
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
C1Q Deficiency 2
Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis OMIM:620321
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax OMIM:614816
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... ORPHA:2302
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Recurrent otitis media, Pili ... OMIM:261990
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Acne, Hirsutism OMIM:615830
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Obesity, Irritability, Aggressive behavior, Hyperactivity, Anorex... ORPHA:3077
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Erythroderma, Conjunctivitis, Sparse hair, Fragile nails OMIM:242150
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... ORPHA:60032
Meckel Syndrome
Accessory spleen, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preaxial hand pol... ORPHA:564
Autosomal Recessive Kenny-Caffey Syndrome
Small hand, Carious teeth, Hypocalcemic tetany, Hypocalcemia, Cortical thickening of long bone di... ORPHA:93324
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia OMIM:619708
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Cryptorchidism, Submucous... ORPHA:2250
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Peripheral pulmonary artery stenosis, Pneumothorax, Recurrent pneumonia ORPHA:90349
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse eyelashes, Absent eyelashes, Absent eyebrow, Membranoproliferative glomeruloneph... OMIM:137940
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal fingernail morphology, Alopecia, Sparse hair, Neoplasm of the lung ORPHA:659
Immunodeficiency 7
Recurrent otitis media, Patchy alopecia, Recurrent respiratory infections, Chronic oral candidiasis OMIM:615387
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Premature graying of hair, Ridged nail, Interstitial pneumonitis, Nail dystrophy, Pulmo... OMIM:127550
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Sparse hair, Nail dystrophy OMIM:616353
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia OMIM:215100
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Pachyonychia Congenita
Onychogryposis of fingernail, Alopecia, Onychogryposis of toenails, Fingernail dysplasia, Nail dy... ORPHA:2309
Hepatoerythropoietic Porphyria
Erythrodontia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Splenomegaly,... ORPHA:95159
Renpenning Syndrome
Thin eyebrow, Alopecia, Abnormal hairshaft morphology ORPHA:3242
Incontinentia Pigmenti
Alopecia, Coarse hair, Uveitis, Keratitis, Fine hair, Supernumerary nipple, Breast aplasia, Breas... OMIM:308300
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Alopecia universalis, Eczematoid dermatitis, Psoriasiform dermatitis, Patchy alopecia, Erythroder... OMIM:606367
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia ORPHA:88630
Meier-Gorlin Syndrome 6
Emphysema, Recurrent respiratory infections OMIM:616835
Microphthalmia, Syndromic 6
Bifid uvula, Microglossia, Toe syndactyly, Failure to thrive, Retrognathia, Finger syndactyly, Th... OMIM:607932
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology ORPHA:2357
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Alopecia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Oste... ORPHA:37042
Sarcoidosis, Susceptibility To, 1
Emphysema, Pleural effusion, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Elev... OMIM:181000
Adult Syndrome
Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, H... ORPHA:978
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery ORPHA:363618
Vacterl With Hydrocephalus
Retrognathia, Micrognathia, Cryptorchidism, Anophthalmia, Hypoplasia of the radius, Microphthalmi... ORPHA:3412
Acrodermatitis Enteropathica
Alopecia, Ridged fingernail, Blepharitis, Abnormal eyebrow morphology, Ridged nail, Pustule, Conj... ORPHA:37
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eczematoid dermatitis, Hepatitis, Erythroderma, Glomerulonephritis, Arthritis OMIM:304790
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Micrognathia, Genu valgum, Abnormal metacarpal mo... ORPHA:1452
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyebrow, Sclerosing cholangitis, Sparse eyelashes, Thick hair, Sparse hair OMIM:607626
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Long philtrum, Anophthalmia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Craniometadiaphyseal Dysplasia
Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Abnormally large globe, Br... OMIM:269300
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Nodular pattern on pulmonary HR... OMIM:130050
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Alopecia universalis, Alopecia, Chronic mucocutaneous candidiasis, Nail dystr... OMIM:240300
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:614594
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Anonychia, Absent fingernail, Alopecia totalis OMIM:609638
Rapp-Hodgkin Syndrome
Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ... OMIM:129400
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia OMIM:612079
Autoimmune Polyendocrinopathy Type 1
Abnormal fingernail morphology, Alopecia, Chronic mucocutaneous candidiasis ORPHA:3453
Kury-Isidor Syndrome
Recurrent otitis media, Alopecia, Hypertrichosis OMIM:619762
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy OMIM:618373
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Micrognathia, Cryptorchidism, Anophthalmia, Hypo... OMIM:601186
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Alopecia, Malar rash, Pleural effusion, Skin rash, Myositis, Arthr... ORPHA:93552
Ellis Van Creveld Syndrome
Emphysema, Aplasia/Hypoplasia of the lungs ORPHA:289
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:77298
Omenn Syndrome
Pneumonia, Alopecia, Erythroderma OMIM:603554
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent lower respiratory tract infections, Alopecia, Erythroderma, Recurrent upper respiratory... ORPHA:169154
Johnson Neuroectodermal Syndrome
Absent eyelashes, Alopecia, Sparse hair, Absent eyebrow ORPHA:2316
Nocardiosis
Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis ORPHA:31204
Adams-Oliver Syndrome 2
Alopecia, Small nail, Low anterior hairline OMIM:614219
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Ichthyosis, Congenital, Autosomal Recessive 2
Abnormal hair morphology, Alopecia, Small nail, Thin nail OMIM:242100
Charge Syndrome
Bifid femur, Hypoplasia of the zygomatic bone, Cleft upper lip, Delayed eruption of teeth, Abnorm... ORPHA:138
Relapsing Polychondritis
Alopecia, Uveitis, Keratitis, Hepatitis, Atelectasis, Recurrent aphthous stomatitis, Chondritis, ... ORPHA:728
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Open ... OMIM:200990
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi... ORPHA:2751
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Woolly hair OMIM:605676
Meier-Gorlin Syndrome 1
Emphysema OMIM:224690
Hemochromatosis, Type 1
Alopecia, Pleural effusion OMIM:235200
Flynn-Aird Syndrome
Alopecia ORPHA:2047
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyebrow, Sparse eyelashes OMIM:610768
Neonatal Marfan Syndrome
Emphysema ORPHA:284979
Macs Syndrome
Alopecia, Sparse eyebrow, Recurrent aphthous stomatitis, Sparse hair, Bronchiectasis OMIM:613075
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Pleural effusion, Atelectasis ORPHA:2902
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes OMIM:616367
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Recurrent respiratory infections, Pulmonary fibros... OMIM:610978
Charge Syndrome
Lymphopenia, Unilateral microphthalmos, Micrognathia, Cryptorchidism, Anophthalmia, Absent radius... OMIM:214800
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal... OMIM:606895
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Monosomy 18P
Low posterior hairline, Alopecia ORPHA:1598
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Abnormal pulmonar... OMIM:613990
Keutel Syndrome
Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent bronchitis OMIM:245150
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Coarse hair, Sparse eyelashes, Patchy alopecia, Scarring alopecia of scalp, Abnor... ORPHA:35173
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Alopecia OMIM:620651
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple ORPHA:3224
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Iridocyclitis, Pancreatitis ORPHA:412057
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Abnormal pulmonary interstitial morphology OMIM:613658
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Alopecia, Rheumatoid arthritis, Hepatitis, Iridocyclitis, Keratoconjunctiviti... ORPHA:227990
Biotinidase Deficiency
Alopecia, Skin rash, Seborrheic dermatitis, Conjunctivitis, Recurrent skin infections OMIM:253260
Marfan Syndrome
Emphysema, Pneumothorax, Pulmonary artery dilatation OMIM:154700
Behcet Syndrome
Patchy alopecia, Iridocyclitis, Erythema nodosum, Arthritis, Epididymitis, Iritis OMIM:109650
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Abnormal circulating porphyrin concentration, Hyponat... ORPHA:100924
Fraser Syndrome 1
Dental crowding, Dental malocclusion, Cleft upper lip, Bilateral microphthalmos, Cutaneous finger... OMIM:219000
H Syndrome
Alopecia, Hypertrichosis, Abnormal eyebrow morphology, Psoriasiform dermatitis, Chronic rhinitis,... ORPHA:168569
Autosomal Dominant Cutis Laxa
Emphysema, Peripheral pulmonary artery stenosis, Bronchiolitis, Bronchiectasis ORPHA:90348
Fabry Disease
Emphysema ORPHA:324
Microphthalmia With Linear Skin Defects Syndrome
Retrognathia, Failure to thrive, Abnormal dental enamel morphology, Micrognathia, Anophthalmia, M... ORPHA:2556
Bresek Syndrome
Alopecia ORPHA:85284
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Conjunctivitis, Nail dysplasia, Alopecia, Nail dystrophy OMIM:226600
Isolated Anencephaly
Cleft lip, Thymus hyperplasia ORPHA:563609
Adams-Oliver Syndrome
Alopecia, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Pulmonary artery atresia, Sparse ... ORPHA:974
Gomez-Lopez-Hernandez Syndrome
Alopecia OMIM:601853
Sarcoidosis
Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Pneumothorax, Abnormal lung... ORPHA:797
Bartsocas-Papas Syndrome
Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toenails, Aplasia/Hypoplasia of the eye... ORPHA:1234
Microphthalmia, Syndromic 1
Tooth malposition, Joint contracture of the hand, Clinodactyly, Cryptorchidism, Anophthalmia, Mic... OMIM:309800
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Alopecia, Rheumatoid arthritis, Hepatitis, Hashimoto thyroiditis, Iridocyclit... ORPHA:227982
Pycnodysostosis
Aplastic clavicle, Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of... OMIM:265800
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchovascular interstit... ORPHA:244
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Fraser Syndrome
Toe syndactyly, Dental crowding, Dental malocclusion, Cleft upper lip, Finger syndactyly, Wide pu... ORPHA:2052
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Alopecia, Sparse eyebrow, Small nail, Hypoplastic toenails, Sparse eyelashes, Absent eyelashes, A... ORPHA:544488
Incontinentia Pigmenti
Alopecia, Ridged fingernail, Keratitis, Dystrophic toenail, Supernumerary nipple, Abnormal hair m... ORPHA:464
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis OMIM:244400
Satoyoshi Syndrome
Abnormal hair morphology, Alopecia universalis, Sparse or absent eyelashes ORPHA:3130
Marfan Syndrome
Emphysema, Spontaneous pneumothorax, Pulmonary artery dilatation ORPHA:558
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Alopecia, Nail dystrophy OMIM:175500
Proboscis Lateralis
Abnormality of the maxillary sinus, Abnormal facial skeleton morphology, Long philtrum, Anophthal... ORPHA:141099
Giant Cell Arteritis
Alopecia, Abnormal pleura morphology, Arthritis, Recurrent pharyngitis, Pericarditis ORPHA:397
Joubert Syndrome 21
Anophthalmia, Dysphagia, Splenomegaly, Chronic sinusitis OMIM:615636
Holocarboxylase Synthetase Deficiency
Alopecia, Skin rash OMIM:253270
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Arachnodactyly, Talipes equinovarus, Micrognathia, Thymus hyperplasia OMIM:619036
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Open bite, Splenomegaly, Polycystic ova... ORPHA:2969
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyelashes, Alopecia, Absent eyebrow, Small nail ORPHA:166035
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, Pulmonary artery aneurysm, Pulmonary artery dilatation OMIM:614437
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Cryptorchidism, Anterior pituitary hypoplasia, Microphthalmia,... OMIM:206900
Mogs-Cdg
Alopecia, Fair hair, Long eyelashes, Hirsutism, Pulmonary edema ORPHA:79330
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Sparse hair, Abnormal toenail morphology ORPHA:1005
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Dyskeratosis Congenita
Alopecia, Periodontitis, White hair, Premature graying of hair, Abnormal fingernail morphology, A... ORPHA:1775
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Patchy alopecia ORPHA:85279
Juvenile Dermatomyositis
Alopecia, Skin rash, Myositis, Arthritis, Pulmonary fibrosis, Pericarditis ORPHA:93672
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis OMIM:269200
Systemic Sclerosis
Alopecia, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Arthritis, Myocarditis, N... ORPHA:90291
Adrenoleukodystrophy
Alopecia OMIM:300100
Branchiooculofacial Syndrome
Abnormality of the dentition, Short thumb, Cleft upper lip, Supernumerary nipple, Preaxial hand p... OMIM:113620
Mandibuloacral Dysplasia
Alopecia, Sparse hair, Hypoplastic fingernail ORPHA:2457
Celiac Disease, Susceptibility To, 1
Alopecia, Eczematoid dermatitis, Recurrent aphthous stomatitis, Stomatitis, Thyroiditis OMIM:212750
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Natal tooth, Broad thumb, Emotional lability, Cryptorchidism, Motor stereotypy, Se... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Carious teeth, Natal tooth, Broad thumb, Micrognathia, Emotional lability, Cryptorchidism, High p... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Carious teeth, Natal tooth, Broad thumb, Micrognathia, Emotional lability, Cryptorchidism, High p... ORPHA:353277
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Long philtrum, Thick vermilion border, Anophthalmia, Microphthalmia, Leukemia ORPHA:2526
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Sparse hair, Brittle hair OMIM:608612
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Camurati-Engelmann Disease
Carious teeth, Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Metaphyseal dyspl... ORPHA:1328
Short Syndrome
Alopecia, Sparse hair ORPHA:3163
Polyendocrine-Polyneuropathy Syndrome
Alopecia ORPHA:453533
Lethal Acantholytic Erosive Disorder
Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyelashes, Absent eyebrow, Absen... ORPHA:158687
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Hyperphosphatemia, Bilateral microphthalmos, Decreased testicular size, Persistenc... ORPHA:93325
Oculocerebrocutaneous Syndrome
Abnormal fingernail morphology, Alopecia ORPHA:1647
Gapo Syndrome
Alopecia, Early balding, Sparse eyebrow, Sparse eyelashes ORPHA:2067
Ectodermal Dysplasia-Skin Fragility Syndrome
Alopecia universalis, Recurrent pneumonia, Cheilitis, Chapped lip, Recurrent skin infections, Nai... ORPHA:158668
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Unilateral lung agenesis ORPHA:500150
Hallermann-Streiff Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of hair texture, Sparse... ORPHA:2108
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Seborrheic dermatitis OMIM:210210
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse pubic hair, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Breast hypoplasia, Alop... ORPHA:2232
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Pleural effusion, Recurrent lower respir... OMIM:620233
Myotubular Myopathy With Abnormal Genital Development
Atelectasis OMIM:300219
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Micrognathia, Crypto... ORPHA:3472
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Alström Syndrome
Testicular fibrosis, Short toe, Tooth agenesis, Hypoplasia of the Leydig cells, Decreased respons... ORPHA:64
Johanson-Blizzard Syndrome
Abnormal hair pattern, Alopecia ORPHA:2315
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Alopecia OMIM:613001
Biotinidase Deficiency
Skin rash, Conjunctivitis, Alopecia, Eczematoid dermatitis ORPHA:79241
Rothmund-Thomson Syndrome, Type 2
Alopecia, Sparse eyebrow, Premature graying of hair, Nail dystrophy, Sparse eyelashes, Absent eye... OMIM:268400
Dyskeratosis Congenita, Digenic
Alopecia, Nail dystrophy, Sparse eyelashes OMIM:620040
Ane Syndrome
Alopecia ORPHA:157954
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Alopecia, Skin rash, Hirsutism, Osteoarthritis ORPHA:2298
Limb-Mammary Syndrome
Alopecia, Sparse eyebrow, Absent nipple, Breast aplasia, Psoriasiform dermatitis, Chronic irritat... ORPHA:69085
Autosomal Dominant Hypocalcemia
Abnormal fingernail morphology, Alopecia, Eczematoid dermatitis, Abnormality of the nail ORPHA:428
Frontonasal Dysplasia 2
Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Sparse hair OMIM:613451
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Acne, Hirsutism ORPHA:90795
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia ORPHA:93160
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal hair morphology, Alopecia, Nail dystrophy ORPHA:90154
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Supernumerary nipple, Sparse body hair, Nail dystrophy, Sparse eyelashes, Absent eyelashes, Patch... OMIM:106260
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Acne, Hirsutism ORPHA:189427
Mandibuloacral Dysplasia With Type A Lipodystrophy
Absent eyelashes, Abnormal eyebrow morphology, Alopecia, Breast aplasia ORPHA:90153
Gapo Syndrome
Alopecia, Sparse eyebrow, Breast hypoplasia, Sparse eyelashes, Nail dysplasia, Hypoplastic nipple... OMIM:230740
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cheilitis, Alopecia, Blepharitis, Keratitis, Eczematoid dermatitis, Hypoplastic fingernail, Abnor... ORPHA:2273
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... OMIM:615067
Progeria-Short Stature-Pigmented Nevi Syndrome
Low posterior hairline, Alopecia ORPHA:2959
Nestor-Guillermo Progeria Syndrome
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Sparse scalp hair OMIM:614008
Leigh Syndrome
Frontal hirsutism, Alopecia, Eczematoid dermatitis, Hypertrichosis ORPHA:506
Viss Syndrome
Emphysema, Pulmonary artery aneurysm, Pneumothorax OMIM:619472
Dermatomyositis
Alopecia, Heliotrope rash, Skin rash, Lung adenocarcinoma, Myositis, Abnormal hair quantity, Arth... ORPHA:221
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Obesity, Emotional lability, Hypokalemia, Abdo... OMIM:219090
Chronic Graft Versus Host Disease
Alopecia, Urinary bladder inflammation, Fasciitis, Pleural effusion, Nail dystrophy, Onycholysis,... ORPHA:99921
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Alopecia, Pyoderma, Nail dystrophy, Pneumothorax, Anonychia, Gastrointestinal inflamma... ORPHA:79404
Proteus Syndrome
Pulmonary cyst, Bronchogenic cyst, Abnormal lung lobation, Pulmonary bulla, Neoplasm of the lung ORPHA:744
Distal Deletion 19P
Alopecia, Thick eyebrow ORPHA:96129
Dyskeratosis Congenita, X-Linked
Alopecia, Premature graying of hair, Pterygium of nails, Ridged nail, Nail dystrophy, Sparse eyel... OMIM:305000
Alstrom Syndrome
Nephritis, Alopecia, Recurrent pneumonia, Otitis media, Chronic active hepatitis, Tubulointerstit... OMIM:203800
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Atelectasis ORPHA:2314
Focal Dermal Hypoplasia
Abnormality of the pulmonary vasculature, Alopecia, Abnormality of the nail, Aplasia/Hypoplasia o... ORPHA:2092
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Recurrent skin infections, Nail dystrophy, Onychogryposis ORPHA:79396
Bloom Syndrome
Pneumonia, Uveitis, Bronchitis, Respiratory tract infection, Otitis media, Sparse eyelashes, Skin... ORPHA:125
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir... ORPHA:51636
Rothmund-Thomson Syndrome
Sparse eyebrow, Small nail, Alopecia totalis, Malar rash, Skin rash, Sparse eyelashes, Nail dyspl... ORPHA:2909
Colchicine Poisoning
Myocarditis, Alopecia ORPHA:31824
Systemic Lupus Erythematosus
Discoid lupus rash, Alopecia, Malar rash, Lupus nephritis, Arthritis, Cheilitis, Serositis ORPHA:536
Kikuchi-Fujimoto Disease
Alopecia, Malar rash, Pleural effusion, Skin rash, Pustule, Myocarditis, Abnormal pulmonary inter... ORPHA:50918
Localized Scleroderma
Abnormal skin adnexa morphology, Fasciitis, Esophagitis, Hashimoto thyroiditis, Patchy alopecia, ... ORPHA:90289
Neutral Lipid Storage Disease With Ichthyosis
Alopecia ORPHA:98907
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis OMIM:618775
Bartsocas-Papas Syndrome 1
Alopecia, Small nail, Alopecia totalis, Absent eyelashes, Absent eyebrow, Anonychia, Sparse scalp... OMIM:263650
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Keratoconjunctivitis sicca, Periodontitis ORPHA:536532
Atypical Werner Syndrome
Abnormal hair whorl, Alopecia, Premature graying of hair, Abnormal hair morphology, Sparse body h... ORPHA:79474
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyebrow, Sparse eyelashes, Patchy alopecia, Erythroderma, Sparse hair OMIM:302960
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Small nail, Pulmonary hypoplasia OMIM:308050
Autosomal Recessive Robinow Syndrome
Alopecia, Fingernail dysplasia, Long eyelashes, Recurrent respiratory infections, Chronic otitis ... ORPHA:1507
Orofaciodigital Syndrome Type 1
Alopecia, Coarse hair, Brittle hair, Sparse hair, Chronic otitis media ORPHA:2750
Farber Disease
Recurrent upper respiratory tract infections, Nodular pattern on pulmonary HRCT, Atelectasis ORPHA:333
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Alopecia, Subungual hyperkeratosis, Atrichia, Recurrent upper respiratory tract infections, Eczem... OMIM:308205
Leprosy
Alopecia, Uveitis, Sparse body hair, Loss of eyelashes, Absent eyebrow, Iritis ORPHA:548
Mandibuloacral Dysplasia With Type A Lipodystrophy