Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Itgb6 MGI:96615

Gene Summary

Name:

integrin beta 6

Synonyms:

2210409C20Rik, 4831415H04Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal tooth morphology	Itgb6^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Itgb6^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased respiratory quotient	Itgb6^{em1(IMPC)Ccpcz}	HOM	Early adult	2.22×10^-16
enlarged thymus	Itgb6^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
anophthalmia	Itgb6^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased body weight	Itgb6^{em1(IMPC)Ccpcz}	HOM	Early adult	9.95×10^-08
abnormal digit morphology	Itgb6^{em1(IMPC)Ccpcz}	HOM	Early adult	5.16×10^-10
increased lung compliance	Itgb6^{em1(IMPC)Ccpcz}	HOM	Early adult	4.25×10^-07
abnormal eye morphology	Itgb6^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased lung tissue damping	Itgb6^{em1(IMPC)Ccpcz}	HOM	Early adult	2.30×10^-06
abnormal tooth color	Itgb6^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal skin morphology	Itgb6^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased freezing behavior	Itgb6^{em1(IMPC)Ccpcz}	HOM	Early adult	1.89×10^-05
preweaning lethality, incomplete penetrance	Itgb6^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased lung elastance	Itgb6^{em1(IMPC)Ccpcz}	HOM	Early adult	3.36×10^-08

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

X-ray

XRay Images Skull Lateral Orientation

16 Images

View 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.

Human diseases associated with Itgb6 (2 diseases)
Human diseases predicted to be associated with Itgb6 (522 diseases)

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, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Alopecia-Intellectual Disability Syndrome		Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850

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

Disease	Matching phenotypes	Source
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis, Alopecia, Alopecia of scalp	OMIM:260910
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta...	ORPHA:70589
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Kerion Celsi	Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Alopecia, Recurrent ...	ORPHA:499
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse...	ORPHA:79127
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch...	OMIM:613490
Candidiasis, Familial, 1	Alopecia, Chronic mucocutaneous candidiasis	OMIM:114580
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
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
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis	OMIM:604571
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Alpha-1-Antitrypsin Deficiency	Emphysema	ORPHA:60
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Patchy ...	ORPHA:346
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
L-Ferritin Deficiency	Alopecia	OMIM:615604
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Res...	OMIM:612387
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno...	ORPHA:129
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers...	ORPHA:1008
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Acrootoocular Syndrome	Decreased response to growth hormone stimulation test, Abnormal finger flexion crease, Micrognath...	ORPHA:2980
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Alopecia of scalp, Trichodysplasia	ORPHA:79129
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir...	OMIM:616726
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e...	OMIM:267450
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Alopecia, Atrophic gastritis, Recurrent skin infections, Recu...	OMIM:616576
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibia...	OMIM:206920
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Recurrent respiratory infections, Alopecia, Sparse scalp hair, Sparse eyebrow, Fine hair, Ciliary...	ORPHA:1882
Cortisone Reductase Deficiency 1	Alopecia, Acne, Hirsutism	OMIM:604931
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Microphthalmia, Syndromic 12	Anophthalmia, Micrognathia, Cryptorchidism, Cleft palate, Neonatal death, Microphthalmia, Retrogn...	OMIM:615524
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Naegeli-Franceschetti-Jadassohn Syndrome	Flexion contracture of finger, Abnormal dental morphology, Interphalangeal joint contracture of f...	ORPHA:69087
Fanconi Renotubular Syndrome 5	Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyelashes, Sparse eyebrow, Restrictive ventilatory defect, Pulmonary fibrosis, N...	OMIM:615704
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Usher Syndrome Type 2	Abnormality of dental color, Abnormal dental enamel morphology, Carious teeth, Depression, Microd...	ORPHA:231178
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Nail dystrophy, Trichodysplasia...	ORPHA:2890
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Sandal gap, Carious teeth, Overweight, Small hand, 2-3 toe syndactyly,...	OMIM:619229
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Mitten deformity	ORPHA:251393
Zinc Deficiency, Transient Neonatal	Alopecia, Eczema	OMIM:608118
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft	OMIM:611638
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Hypophosphatasia	Emphysema, Respiratory insufficiency	ORPHA:436
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Moynahan Syndrome	Sparse hair, Alopecia	ORPHA:2574
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Ulnar deviation of the wrist, Grayish enamel, Carious teeth, Epiphyseal de...	OMIM:253000
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis	OMIM:176100
Oliver-Mcfarlane Syndrome	Sparse hair, Alopecia, Long eyelashes, Long eyebrows	OMIM:275400
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, ...	OMIM:612843
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail	ORPHA:2251
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis	OMIM:242700
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Ulnar deviation of the wrist, Grayish enamel, Carious teeth, Epiphyseal de...	OMIM:253010
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Abnormal lung morphology, Tachypnea, Atelectasis, Whee...	ORPHA:60032
Epidermolysis Bullosa, Junctional 5A, Intermediate	Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope...	OMIM:619816
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Rec...	OMIM:618282
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa...	ORPHA:1106
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ...	OMIM:614370
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Abnormal spaced incisors, Thick vermilion border, Everted lower lip vermilion, Shor...	ORPHA:411986
Oculocerebrocutaneous Syndrome	Anophthalmia, Congenital hip dislocation, Cryptorchidism, Cleft palate, Microphthalmia	OMIM:164180
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th...	ORPHA:93323
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost...	ORPHA:95430
Hydrolethalus	Anophthalmia, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cle...	ORPHA:2189
Meckel Syndrome, Type 8	Anophthalmia, Cleft upper lip, Cleft palate, Polydactyly, Talipes equinovarus, Microphthalmia	OMIM:613885
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Pulmonary fibrosis	OMIM:620365
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morph...	ORPHA:208441
Trisomy 13	Median cleft lip, Anophthalmia, Abnormality of the dentition, High, narrow palate, Cryptorchidism...	ORPHA:3378
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Asbestos Intoxication	Reduced vital capacity, Lung adenocarcinoma, Reduced forced vital capacity, Nonproductive cough, ...	ORPHA:2302
Cerebrooculonasal Syndrome	Anophthalmia, Postaxial hand polydactyly, High palate, Widely spaced teeth, Solitary median maxil...	ORPHA:66625
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Recurrent lower respiratory tract in...	OMIM:619632
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Allergic rhinitis, Abnormalit...	ORPHA:90368
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Fibrodysplasia Ossificans Progressiva	Alopecia, Respiratory insufficiency	ORPHA:337
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop...	ORPHA:79153
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Alopecia, Long eyelashes	ORPHA:3363
Usher Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Carious teeth, Depression, Microd...	ORPHA:886
Hypocomplementemic Urticarial Vasculitis	Dyspnea, Restrictive ventilatory defect, Pleural effusion, Cough, Emphysema, Airway obstruction	ORPHA:36412
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dystrophy, Alopecia totalis, Nail dysplasia	OMIM:212360
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair	ORPHA:2985
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Anencephaly 2	Anophthalmia, Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge	OMIM:619452
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal dental enamel morphology, Abnormality of the dentition, Cariou...	ORPHA:582
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Abnormal hair morphology, Abnormality of the nail, Generalized hirsutism	ORPHA:317
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal...	OMIM:300770
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Alopecia, Fine hair, Pulmonary fibrosis, Sparse hair	ORPHA:1839
Osteogenesis Imperfecta	Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur ...	ORPHA:666
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Pneumonia, Nail dystrophy, Atrichia	ORPHA:1867
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Pleural effusion, Sparse body hair	ORPHA:69735
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp	OMIM:136300
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t...	OMIM:265900
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormal toe morphology, Abnormality of dental color, Abnormal finger morphology	OMIM:163200
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Nail dystrophy, Nail dysplasia	ORPHA:79397
Cockayne Syndrome Type 2	Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Widely sp...	ORPHA:90322
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Bilateral cleft lip and palate	OMIM:600776
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Postaxial foot poly...	ORPHA:139471
Netherton Syndrome	Asthma, Emphysema, Recurrent respiratory infections	ORPHA:634
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Hip contracture, Micrognathia, Carious teeth, Coxa valg...	OMIM:618363
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Erythroderma	OMIM:618840
Systemic Lupus Erythematosus 17	Alopecia, Malar rash, Optic neuritis, Myelitis	OMIM:301080
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Abnormal lu...	ORPHA:47
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Nail dystrophy, Nail dysplasia, Erythroderma, Sparse hair	OMIM:242300
Anophthalmia Plus Syndrome	Anophthalmia, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Deviation of f...	ORPHA:1104
Congenital Ichthyosiform Erythroderma	Keratitis, Alopecia, Abnormality of the nail, Erythroderma	ORPHA:79394
Solitary Median Maxillary Central Incisor	Anophthalmia, Decreased response to growth hormone stimulation test, Cleft upper lip, Prominent m...	OMIM:147250
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Trisomy 1Q	Microretrognathia, Anophthalmia, Arachnodactyly, Toe syndactyly, Camptodactyly of finger, Cryptor...	ORPHA:261344
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Classic Mycosis Fungoides	Skin rash, Alopecia, Eczema, Abnormality of the nail	ORPHA:2584
Keutel Syndrome	Recurrent respiratory infections, Alopecia, Pulmonary artery stenosis, Recurrent sinusitis, Recur...	ORPHA:85202
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema	OMIM:617443
Holoprosencephaly 9	Anophthalmia, Hypoplasia of the premaxilla, Decreased response to growth hormone stimulation test...	OMIM:610829
48,Xxyy Syndrome	Apnea, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Abnormal repetitive manneris...	ORPHA:10
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod...	ORPHA:79126
Rubinstein-Taybi Syndrome 2	Syndactyly, Hyperactivity, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclu...	OMIM:613684
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Immunodeficiency, Common Variable, 10	Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Asthma, Recurrent pneumonia, Recurrent ...	OMIM:615577
Centrifugal Lipodystrophy	Inflammatory abnormality of the skin, Lymphadenitis, Alopecia	ORPHA:90156
Common Variable Immunodeficiency	Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph...	ORPHA:1572
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Emphysema	OMIM:219100
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Posterior blepharitis, Blepharitis, Alopecia totalis	OMIM:300918
Nicolaides-Baraitser Syndrome	Alopecia, Eczema, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, ...	ORPHA:3051
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis...	OMIM:158310
Meier-Gorlin Syndrome 4	Emphysema	OMIM:613804
Lichen Planopilaris	Alopecia, Onycholysis, Abnormal fingernail morphology, Hepatitis	ORPHA:525
Cockayne Syndrome Type 1	Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Abnormality of the dentit...	ORPHA:90321
Keratoderma Hereditarium Mutilans	Alopecia, Abnormality of the nail, Abnormal toenail morphology	ORPHA:494
Lymphangioleiomyomatosis	Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Restrictive ventilatory def...	ORPHA:538
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Finger syndactyly, Anophthalmia, Toe syndactyly, Anterior pituitary hypoplas...	ORPHA:264200
Epidermolysis Bullosa, Junctional 1A, Intermediate	Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati...	ORPHA:70588
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A...	OMIM:607823
Cutis Laxa, Autosomal Dominant 1	Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis	OMIM:123700
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious...	OMIM:617102
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec...	ORPHA:2930
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Mic...	ORPHA:2470
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Dyspnea, Nonproductive cough, Atelectasis, Wheezing, Asthma, Hypersensitivity pneumonit...	ORPHA:2902
Sézary Syndrome	Alopecia, Nail dystrophy, Abnormal pleura morphology, Erythroderma	ORPHA:3162
Holocarboxylase Synthetase Deficiency	Respiratory distress, Alopecia, Eczema, Tachypnea, Keratoconjunctivitis, Perioral eczema	ORPHA:79242
Olmsted Syndrome 2	Sparse hair, Woolly hair, Cheilitis, Alopecia universalis	OMIM:619208
Loeys-Dietz Syndrome 4	Emphysema, Pneumothorax	OMIM:614816
Trichotillomania	Alopecia	OMIM:613229
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia, Recurrent upper respiratory tract infections, Arthritis, Membranous nephropathy, Recurr...	OMIM:615559
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Failure to...	ORPHA:783
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality of the humerus, A...	ORPHA:2538
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal...	OMIM:300166
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Alopecia totalis	ORPHA:1366
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hashimoto thyroiditis	ORPHA:3143
Mixed Connective Tissue Disease	Alopecia, Myositis, Pericarditis, Skin rash, Gastritis, Dyspnea, Myocarditis, Abnormal pulmonary ...	ORPHA:809
48,Xxxy Syndrome	Mandibular prognathia, Pulmonary embolism, Clinodactyly of the 5th finger, Abnormal dental enamel...	ORPHA:96263
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the maxilla, Cryptorc...	ORPHA:1101
Bathing Suit Ichthyosis	Sparse hair, Alopecia, Nail dystrophy, Erythroderma	ORPHA:100976
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Micrognathia, Carious teeth, Trismus, Dyspnea, Tapered finger, Elbow flexion contract...	OMIM:272430
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Pulmonary artery stenosis, Coarse hair, Nail dystrophy	ORPHA:75389
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Respiratory insufficiency	OMIM:215100
Sarcoidosis, Susceptibility To, 1	Dyspnea, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Restrictive venti...	OMIM:181000
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Holoprosencephaly	Brachydactyly, Median cleft lip, Anophthalmia, Bilateral cleft lip, Failure to thrive in infancy,...	ORPHA:2162
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ...	OMIM:610125
Microphthalmia, Syndromic 9	Anophthalmia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Resp...	OMIM:601186
Walker-Warburg Syndrome	Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Metatarsus valgus, Micro...	ORPHA:899
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda...	OMIM:257850
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Postaxial hand polydactyly, Narrow p...	OMIM:605627
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Erythrodontia, Splenomegaly, Cholelithiasis, Joint contracture of the hand, Thr...	OMIM:263700
Focal Dermal Hypoplasia	Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Oligodontia, Foo...	OMIM:305600
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Cutis Laxa, Autosomal Recessive, Type Ic	Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Tracheomalacia, Emphysema, Peripheral pul...	OMIM:613177
Omenn Syndrome	Alopecia, Pneumonia, Thyroiditis, Erythroderma, Aplasia/Hypoplasia of the eyebrow	ORPHA:39041
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili...	ORPHA:3077
Pachyonychia Congenita	Respiratory distress, Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Finger...	ORPHA:2309
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair	ORPHA:177
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Meckel Syndrome	Accessory spleen, Bowing of the long bones, Anophthalmia, Pancreatic fibrosis, Aplasia/Hypoplasia...	ORPHA:564
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Emphysema	ORPHA:357074
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Dyspnea, Nail pits, Premature graying of hair, Interstitial pneumonitis, P...	OMIM:127550
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Recurrent respiratory infections, Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail,...	ORPHA:3253
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Fragile nails, Small nail, Recurrent otitis media, Pili torti, Trichorrhexis nodosa, Sp...	OMIM:261990
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Microphthalmia, Failure ...	ORPHA:2250
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Tachypnea, Finger clinodactyly, High palate, Short tibia, Finger syndactyly,...	ORPHA:2751
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Acne, Hirsutism	OMIM:615830
Satoyoshi Syndrome	Alopecia, Alopecia universalis	OMIM:600705
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Conjunctivitis, Erythroderma, Sparse hair, Fragile nails	OMIM:242150
Pycnodysostosis	Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Micrognathia, Hy...	ORPHA:763
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of...	ORPHA:2269
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Abnormally large globe, Ca...	OMIM:269300
De Barsy Syndrome	Recurrent sinopulmonary infections, Emphysema	ORPHA:2962
Meier-Gorlin Syndrome 6	Tracheobronchomalacia, Recurrent respiratory infections, Emphysema	OMIM:616835
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Nail dystrophy	OMIM:616353
Relapsing Polychondritis	Episcleritis, Alopecia, Pericarditis, Chondritis of pinna, Keratitis, Atelectasis, Dyspnea, Myoca...	ORPHA:728
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pharyngitis, Recurrent upper respi...	ORPHA:293978
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia	OMIM:247100
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Neoplasm of the lung, Alopecia, Abnormal fingernail morphology, Sparse hair	ORPHA:659
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Recurrent respiratory infections, Alopecia, Myositis, Psoriasiform dermatit...	ORPHA:37042
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Neonatal respiratory distress, Thymus hyperplasia, Arachnodactyly, Micrognathia, Chylothorax, Tal...	OMIM:619036
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Membranoproliferative glomerulonep...	OMIM:137940
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Single transverse palmar crea...	OMIM:607932
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Long philtrum, Microphthalmia, 3-4 finger syndactyly	OMIM:615877
Incontinentia Pigmenti	Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Keratitis, Nail pits, Fine ...	OMIM:308300
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Thin eyebrow	ORPHA:3242
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronchogenic ...	ORPHA:2357
Joubert Syndrome 21	Anophthalmia, Apnea, Dyspnea, Splenomegaly, Respiratory failure, Dysphagia, Chronic sinusitis	OMIM:615636
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis	OMIM:619708
Vacterl With Hydrocephalus	Anophthalmia, Micrognathia, Cryptorchidism, Hypoplasia of the radius, Hip dislocation, Microphtha...	ORPHA:3412
Immunodeficiency 7	Recurrent otitis media, Recurrent respiratory infections, Patchy alopecia, Chronic oral candidiasis	OMIM:615387
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Chronic oral candidiasis, Psoriasiform dermatitis, Eczema, Thyr...	OMIM:606367
Menkes Disease	Sparse hair, Alopecia, Brittle hair	OMIM:309400
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d...	ORPHA:978
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia	ORPHA:88630
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma	OMIM:304790
Charge Syndrome	Delayed eruption of teeth, Anophthalmia, Cleft upper lip, Abnormal soft palate morphology, Crypto...	ORPHA:138
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sclerosing cholangitis, Sparse hair	OMIM:607626
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Cheilitis, Conjunctiviti...	ORPHA:37
Lmna-Related Cardiocutaneous Progeria Syndrome	Emphysema, Abnormality of the pulmonary artery	ORPHA:363618
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:620321
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splenomegaly, Asthma, Failure ...	OMIM:612714
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Fine hair, Premature graying of hair, Pulmonary fibrosis, Nail dysplasia, Decreased DLCO	OMIM:613990
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Recurrent pneumonia, Respiratory insufficiency, Emphysema, Peripheral pulmonary art...	ORPHA:90349
Olmsted Syndrome 1	Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis	OMIM:614594
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Leukopenia, Poikilo...	ORPHA:79277
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Chronic active hepatitis, Atrophic gastritis, Iridocyclitis, Chronic mucocutaneous cand...	OMIM:240300
Pediatric Systemic Lupus Erythematosus	Alopecia, Myositis, Skin rash, Discoid lupus rash, Dyspnea, Arthritis, Pleural effusion, Malar ra...	ORPHA:93552
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia	OMIM:612079
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology, Chronic mucocutaneous candidiasis	ORPHA:3453
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail	OMIM:609638
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea	ORPHA:254361
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
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ...	OMIM:259710
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:77298
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Omenn Syndrome	Alopecia, Pneumonia, Erythroderma	OMIM:603554
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Hepatoerythropoietic Porphyria	Erythroid hyperplasia, Hemolytic anemia, Erythrodontia, Splenomegaly	ORPHA:95159
Keutel Syndrome	Sinusitis, Recurrent bronchitis, Pulmonary artery hypoplasia, Emphysema, Chronic sinusitis, Perip...	OMIM:245150
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Aspiration	OMIM:610768
Fibrodysplasia Ossificans Progressiva	Alopecia, Respiratory failure, Respiratory insufficiency	OMIM:135100
Johnson Neuroectodermal Syndrome	Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes	ORPHA:2316
Biotinidase Deficiency	Alopecia, Skin rash, Apnea, Recurrent skin infections, Seborrheic dermatitis, Tachypnea, Conjunct...	OMIM:253260
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Hemochromatosis, Type 1	Alopecia, Pleural effusion	OMIM:235200
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Neonatal Marfan Syndrome	Neonatal respiratory distress, Emphysema, Hypoxemia	ORPHA:284979
Ellis Van Creveld Syndrome	Aplasia/Hypoplasia of the lungs, Emphysema	ORPHA:289
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail	OMIM:614219
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai...	OMIM:613658
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr...	OMIM:244400
Ichthyosis, Congenital, Autosomal Recessive 2	Abnormal hair morphology, Alopecia, Thin nail, Small nail	OMIM:242100
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infecti...	ORPHA:169154
Meier-Gorlin Syndrome 1	Respiratory distress, Emphysema	OMIM:224690
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Failure to thrive, Anophthalmia, Abnormal dental enamel morphology, Microgn...	ORPHA:2556
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnormal pulmonary interstitial...	OMIM:620233
Fabry Disease	Dyspnea, Emphysema, Chronic pulmonary obstruction, Respiratory insufficiency	ORPHA:324
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Flynn-Aird Syndrome	Alopecia	ORPHA:2047
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair	OMIM:605676
Chanarin-Dorfman Syndrome	Alopecia	OMIM:275630
Holocarboxylase Synthetase Deficiency	Alopecia, Tachypnea, Skin rash, Hyperventilation	OMIM:253270
Alstrom Syndrome	Alopecia, Chronic active hepatitis, Asthma, Recurrent pneumonia, Tubulointerstitial nephritis, Ot...	OMIM:203800
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Respiratory insu...	ORPHA:100924
Macs Syndrome	Alopecia, Sparse eyebrow, Bronchiectasis, Recurrent aphthous stomatitis, Sparse hair	OMIM:613075
Oslam Syndrome	Abnormality of neutrophils, Carious teeth, Radioulnar synostosis, Increased mean corpuscular volu...	ORPHA:2760
Mogs-Cdg	Respiratory distress, Hypoventilation, Alopecia, Apnea, Long eyelashes, Fair hair, Hirsutism, Pul...	ORPHA:79330
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Isolated Anencephaly	Cleft lip, Thymus hyperplasia	ORPHA:563609
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela...	ORPHA:544488
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Sparse hair, Absent fingernail, Pulmonary artery atresia,...	ORPHA:974
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Anophthalmia, Dental crowding, Cleft upper lip, Cryptorchidism, ...	OMIM:219000
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm	OMIM:614437
Juvenile Dermatomyositis	Alopecia, Myositis, Pericarditis, Skin rash, Dyspnea, Restrictive ventilatory defect, Arthritis, ...	ORPHA:93672
Monosomy 18P	Alopecia, Low posterior hairline	ORPHA:1598
Pycnodysostosis	Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna...	OMIM:265800
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Abnormal lun...	ORPHA:35173
Sarcoidosis	Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Pneumothorax, Bronchiectasis, Uppe...	ORPHA:797
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Iridocyclitis, Alopecia, Pancreatitis	ORPHA:412057
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple	ORPHA:3224
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Charge Syndrome	Anophthalmia, Decreased response to growth hormone stimulation test, Abnormal palmar dermatoglyph...	OMIM:214800
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Autoimmune Polyendocrinopathy Type 4	Alopecia, Atrophic gastritis, Iridocyclitis, Abnormal pulmonary interstitial morphology, Hepatiti...	ORPHA:227990
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Patchy alopecia, Iritis	OMIM:109650
Bresek Syndrome	Alopecia	ORPHA:85284
Giant Cell Arteritis	Alopecia, Pericarditis, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, Arthritis, ...	ORPHA:397
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Orofacial cl...	OMIM:309800
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Pleural effusion, Thick vermilion border, Chylothorax, Long philtrum, Microphthalmi...	ORPHA:2526
H Syndrome	Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Recurrent pharyngitis, Bronchiect...	ORPHA:168569
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Absent eyelashes, Absent toenail, Respiratory failure, Absent fingernail, Congeni...	ORPHA:158687
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Compulsive behaviors, Abnormal repetitive mannerisms, Hyperactivity, Broad hallu...	ORPHA:353281
Autoimmune Polyendocrinopathy Type 3	Alopecia, Atrophic gastritis, Iridocyclitis, Abnormal pulmonary interstitial morphology, Hepatiti...	ORPHA:227982
Gomez-Lopez-Hernandez Syndrome	Alopecia	OMIM:601853
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Conjunctivitis, Nail dystrophy, Nail dysplasia	OMIM:226600
Marfan Syndrome	Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax	ORPHA:558
Autosomal Dominant Cutis Laxa	Bronchiolitis, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis	ORPHA:90348
Bartsocas-Papas Syndrome	Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Skin rash, Supernumerary nipple, Abnormal hair morpholo...	ORPHA:464
Fraser Syndrome	Finger syndactyly, Anophthalmia, Dental crowding, Toe syndactyly, Cleft upper lip, Cryptorchidism...	ORPHA:2052
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Abnormal paranasal sinus...	ORPHA:141099
Marfan Syndrome	Pulmonary artery dilatation, Emphysema, Pneumothorax	OMIM:154700
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis	ORPHA:896
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Conj...	OMIM:106260
Systemic Sclerosis	Alopecia, Pericarditis, Osteomyelitis, Nail bed telangiectasia, Glomerulonephritis, Recurrent ski...	ORPHA:90291
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis	ORPHA:3130
Proteus-Like Syndrome	Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi...	ORPHA:2969
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Nail dystrophy, Nail dysplasia	OMIM:175500
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Compulsive behaviors, Aspiration, Abnormal repetitive...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Compulsive behaviors, Aspiration, Abnormal repetitive...	ORPHA:353277
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Cryptor...	OMIM:206900
Biotinidase Deficiency	Respiratory distress, Alopecia, Apnea, Skin rash, Conjunctivitis, Eczematoid dermatitis, Hyperven...	ORPHA:79241
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Sparse hair, Alopecia, Abnormal toenail morphology	ORPHA:1005
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyelashes, Absent eyebrow, Alopecia, Small nail	ORPHA:166035
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis	OMIM:269200
Camurati-Engelmann Disease	Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Leuk...	ORPHA:1328
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Patchy alopecia	ORPHA:85279
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Supernumerary nipple, Cleft upper lip, Micrognathi...	OMIM:113620
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Micrognathia, High,...	ORPHA:3472
Dyskeratosis Congenita	Recurrent respiratory infections, Alopecia, Abnormal eyebrow morphology, Abnormal fingernail morp...	ORPHA:1775
Celiac Disease, Susceptibility To, 1	Alopecia, Eczema, Thyroiditis, Recurrent aphthous stomatitis, Stomatitis	OMIM:212750
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Tracheomalacia, Abnormality of hair texture, Sparse eyebrow, Uveitis,...	ORPHA:2108
Mandibuloacral Dysplasia	Sparse hair, Alopecia, Hypoplastic fingernail	ORPHA:2457
Adrenoleukodystrophy	Alopecia	OMIM:300100
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair	OMIM:608612
Short Syndrome	Sparse hair, Alopecia	ORPHA:3163
Alström Syndrome	Respiratory distress, Abnormality of dental color, Decreased response to growth hormone stimulati...	ORPHA:64
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology	ORPHA:1647
Polyendocrine-Polyneuropathy Syndrome	Alopecia	ORPHA:453533
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Seborrheic dermatitis	OMIM:210210
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Eczema, Abnormal pattern of respiration, Abnormality of...	ORPHA:428
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Recurrent pneumonia, Cheilitis, Nail dystrophy, Sparse ha...	ORPHA:158668
Gapo Syndrome	Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes	ORPHA:2067
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Respiratory failure, Emphysema, Unilateral lung agenesis	ORPHA:500150
Proteus Syndrome	Pulmonary embolism, Abnormal finger morphology, Clinodactyly of the 5th finger, Abnormality of th...	ORPHA:744
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Alopecia, Recurrent skin infections, Pneumonia, Dyspnea, Paronychia, Pneumo...	ORPHA:79404
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo...	ORPHA:2232
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Dyspnea, Nail dystrophy, Pulmonary...	OMIM:614008
Chronic Graft Versus Host Disease	Alopecia, Fasciitis, Dyspnea, Wheezing, Pneumothorax, Urinary bladder inflammation, Bronchiectasi...	ORPHA:99921
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal hair morphology, Alopecia, Nail dystrophy	ORPHA:90154
Johanson-Blizzard Syndrome	Alopecia, Abnormal hair pattern	ORPHA:2315
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Atelectasis	OMIM:300219
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:268400
Ane Syndrome	Alopecia	ORPHA:157954
Wrinkly Skin Syndrome	Recurrent sinopulmonary infections, Emphysema	ORPHA:2834
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Nail dystrophy	OMIM:620040
Insulin-Resistance Syndrome Type B	Alopecia, Skin rash, Pneumonia, Osteoarthritis, Nephritis, Hirsutism	ORPHA:2298
Leigh Syndrome	Alopecia, Eczema, Respiratory failure, Frontal hirsutism, Abnormal pattern of respiration, Hypert...	ORPHA:506
Encephalocraniocutaneous Lipomatosis	Alopecia, Peripheral pulmonary artery stenosis	OMIM:613001
Colchicine Poisoning	Respiratory distress, Myocarditis, Alopecia, Cardiorespiratory arrest	ORPHA:31824
Limb-Mammary Syndrome	Alopecia, Absent nipple, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr...	ORPHA:69085
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Acne, Hirsutism	ORPHA:90795
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia	ORPHA:93160
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
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 eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre...	OMIM:230740
Systemic Lupus Erythematosus	Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Malar rash, Serositis	ORPHA:536
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis, Hyperventilation	OMIM:618775
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Recurrent respiratory infections, Alopecia, Absent eyebrow, Thin fingernail, Eczema...	ORPHA:2273
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Low posterior hairline	ORPHA:2959
Viss Syndrome	Dyspnea, Asthma, Pneumothorax, Pulmonary artery aneurysm, Pulmonary arterial hypertension, Emphysema	OMIM:619472
Bloom Syndrome	Sparse eyelashes, Pneumonia, Bronchitis, Skin rash, Respiratory tract infection, Paronychia, Chro...	ORPHA:125
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Premature graying of hai...	OMIM:305000
Rothmund-Thomson Syndrome	Sparse eyelashes, Alopecia totalis, Skin rash, Sparse eyebrow, Small nail, Nail dysplasia, Sparse...	ORPHA:2909
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Focal Dermal Hypoplasia	Aplasia/Hypoplasia of the lungs, Alopecia, Abnormality of the nail, Abnormality of the pulmonary ...	ORPHA:2092
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Nail dystrophy, Onychogryposis	ORPHA:79396
Localized Scleroderma	Abnormal skin adnexa morphology, Fasciitis, Abnormality on pulmonary function testing, Uveitis, A...	ORPHA:90289
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis	OMIM:277440
Autosomal Dominant Hyper-Ige Syndrome	Atelectasis, Recurrent respiratory infections, Cough	ORPHA:2314
Kikuchi-Fujimoto Disease	Alopecia, Skin rash, Pustule, Myocarditis, Abnormal pulmonary interstitial morphology, Pleural ef...	ORPHA:50918
Neutral Lipid Storage Disease With Ichthyosis	Alopecia	ORPHA:98907
Leprosy	Absent eyebrow, Alopecia, Epistaxis, Loss of eyelashes, Uveitis, Iritis, Sparse body hair	ORPHA:548
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Eczema, Recurrent skin inf...	OMIM:308205
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Small nail, Anon...	OMIM:263650
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract...	ORPHA:51636
Mandibuloacral Dysplasia With Type A Lipodystrophy	Sparse scalp hair, Alopecia, Onychogryposis	OMIM:248370
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse hair	OMIM:302960
Classical-Like Ehlers-Danlos Syndrome Type 2	Keratoconjunctivitis sicca, Alopecia, Periodontitis	ORPHA:536532
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Hypoplastic distal radial epiphyses, Decreased body weight, Coxa valga,...	OMIM:182250
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira...	ORPHA:258
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Abnormal hair morphology, Abnormal hair whorl, Neoplasm of the ...	ORPHA:79474
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Coarse hair, Sparse hair, Chronic otitis media	ORPHA:2750
Autosomal Recessive Robinow Syndrome	Recurrent respiratory infections, Alopecia, Long eyelashes, Fingernail dysplasia, Chronic otitis ...	ORPHA:1507
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Pulmonary hypoplasia, Small nail	OMIM:308050
Craniofacial Microsomia 1	Anophthalmia, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Partial duplication of th...	OMIM:164210
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory...	ORPHA:333
Sympathetic Ophthalmia	Alopecia, Posterior uveitis, Poliosis	ORPHA:79098
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge...	OMIM:149730
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Linear Nevus Sebaceus Syndrome	Alopecia	ORPHA:2612
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Pulmonary artery stenosis, Small nail, Pulmonary arterial hyperte...	OMIM:100300
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent respiratory infections, Alopecia, Eczema, Tracheomalacia, Recurrent otitis media, Fair ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent respiratory infections, Alopecia, Eczema, Tracheomalacia, Recurrent otitis media, Fair ...	ORPHA:363958
Wiedemann-Rautenstrauch Syndrome	Recurrent respiratory infections, Sparse scalp hair, Absent eyebrow, Alopecia, Pneumonia, Sparse ...	OMIM:264090
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair	OMIM:311200
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Pulmonary arterial hypertension, Alopecia	ORPHA:2396
Xeroderma Pigmentosum	Keratitis, Alopecia, Blepharitis	ORPHA:910
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Rothmund-Thomson Syndrome Type 1	Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ...	ORPHA:221008
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Atelectasis, Rhinitis	ORPHA:319213
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Autosomal Dominant Robinow Syndrome	Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Ridged fingernail, Onychogryposi...	ORPHA:3107
Sotos Syndrome	Small cell lung carcinoma, Pulmonary bleb	ORPHA:821
Rothmund-Thomson Syndrome Type 2	Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ...	ORPHA:221016
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv...	ORPHA:536467
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Dyspnea, Loss of eyelashes, Respiratory failure, Thin eyebrow, Sparse hair	ORPHA:2636
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie...	ORPHA:365
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Pleural effusion, Recurrent pneumonia, Cough	OMIM:306400
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Fine hair, Pyelonephritis, Patchy alopecia, Breast aplas...	OMIM:181270
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Alopecia, Respiratory insufficiency due to mu...	ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis, Low posterior hairli...	ORPHA:99413
Turner Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis, Low posterior hairli...	ORPHA:881
Mosaic Monosomy X	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis, Low posterior hairli...	ORPHA:99228
Monosomy X	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis, Low posterior hairli...	ORPHA:99226
Short-Rib Thoracic Dysplasia 12	Atelectasis, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:269860
African Trypanosomiasis	Alopecia, Pericarditis, Keratitis, Myocarditis, Optic neuritis, Conjunctivitis, Iritis, Myelitis	ORPHA:3385
Zygomycosis	Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Acute infectious pneumonia, Cough, Pleural effus...	ORPHA:73263
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Alopecia totalis, Osteoarthritis, Loss of eyelashes, Upper airway obstruction, Pa...	ORPHA:740
Woodhouse-Sakati Syndrome	Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Chand Syndrome	Atelectasis	ORPHA:1401
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia	OMIM:619321
Ring Chromosome 13 Syndrome	Alopecia	ORPHA:96176
Vascular Ehlers-Danlos Syndrome	Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Osteoarthritis, Pneumothorax,...	ORPHA:286
22Q11.2 Deletion Syndrome	Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lobation	ORPHA:567
Oculocerebrorenal Syndrome Of Lowe	Atelectasis, Recurrent respiratory infections, Respiratory insufficiency	ORPHA:534
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter...	OMIM:601803
Digeorge Syndrome	Atelectasis, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Recurrent sinusitis	OMIM:188400

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Itgb6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Itgb6.

No publications found that use IMPC mice or data for Itgb6.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Itgb6^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Itgb6^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Itgb6^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Itgb6 MGI:96615

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Itgb6 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data