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Gene: Rassf9 MGI:2384307

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
Ras association (RalGDS/AF-6) domain family (N-terminal) member 9
Synonyms:
Pamci

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rassf9 mutations

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

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

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

The table below shows human diseases predicted to be associated to Rassf9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Central Centrifugal Cicatricial Alopecia
Scarring alopecia of scalp OMIM:618352
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia 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
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
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
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp ORPHA:79129
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
L-Ferritin Deficiency
Alopecia OMIM:615604
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Hypertrichosis, Congenital Generalized, 2
Hirsutism, Congenital, generalized hypertrichosis OMIM:307150
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Nail pits, Ridged nail, Nail dystrophy OMIM:601705
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy
Hypertrichosis OMIM:620470
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Candidiasis, Familial, 1
Alopecia OMIM:114580
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... OMIM:117850
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair ORPHA:1008
Pseudopelade Of Brocq
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S... ORPHA:129
Kerion Celsi
Alopecia ORPHA:499
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp ORPHA:346
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Epidermolysis Bullosa, Junctional 5A, Intermediate
Alopecia of scalp, Nail dystrophy, Onychogryposis, Absent pubic hair, Absent axillary hair, Onych... OMIM:619816
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... ORPHA:248
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Nail dysplasia, Hypohidrosis, Delayed pub... OMIM:615704
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development
Alopecia OMIM:242510
Alopecia Totalis
Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonychia, Nail pits, Fragile nails ORPHA:700
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair OMIM:104100
Hypotrichosis 14
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes OMIM:618275
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa... OMIM:614594
Congenital Ichthyosiform Erythroderma
Alopecia, Palmoplantar keratoderma, Hypohidrosis, Erythroderma, Short stature, Pruritus, Abnormal... ORPHA:79394
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Erythrokeratodermia Variabilis
Alopecia, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Skin rash, Generalized hi... ORPHA:317
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... OMIM:129500
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Trichotillomania
Alopecia OMIM:613229
Porphyria Cutanea Tarda
Alopecia, Onycholysis, Facial hypertrichosis OMIM:176100
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair ORPHA:1882
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Severe short stature, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar ker... ORPHA:2251
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Keloids, Palmoplantar keratoderma, Eczematoid dermatitis, Sparse ... ORPHA:2890
Classic Mycosis Fungoides
Alopecia, Eczematoid dermatitis, Skin rash, Pruritus, Hyperkeratosis, Abnormality of the nail, Edema ORPHA:2584
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to... ORPHA:2325
Oliver-Mcfarlane Syndrome
Long eyelashes, Long eyebrows, Alopecia, Sparse hair OMIM:275400
Ectodermal Dysplasia 9, Hair/Nail Type
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... OMIM:614931
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Alopecia, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Plantar h... ORPHA:79397
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Olmsted Syndrome 2
Alopecia universalis, Palmoplantar keratoderma, Perioral hyperkeratosis, Flexion contracture of d... OMIM:619208
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Bathing Suit Ichthyosis
Alopecia, Nail dystrophy, Multiple joint contractures, Parakeratosis, Hypohidrosis, Palmoplantar ... ORPHA:100976
Palmoplantar Keratoderma And Congenital Alopecia 2
Camptodactyly of finger, Alopecia totalis, Nail dystrophy, Nail dysplasia, Palmoplantar hyperkera... OMIM:212360
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Alopecia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eczematoid d... OMIM:618282
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp, Hyperkeratosis OMIM:136300
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Nail dystrophy, Nail dysplasia, Parakeratosis, Palmoplantar hyperkeratosis, Erythroderm... OMIM:242300
Sézary Syndrome
Alopecia, Palmoplantar keratoderma, Abnormal pleura morphology, Nail dystrophy, Erythroderma, Pru... ORPHA:3162
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair ORPHA:2985
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Schöpf-Schulz-Passarge Syndrome
Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Alopecia, Sparse hair ORPHA:3363
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Onycholysis, Pruritus, Hyperkeratosis ORPHA:525
Idiopathic Trachyonychia
Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy alopecia, Circumungu... ORPHA:79153
Woolly Hair, Autosomal Dominant
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... OMIM:194300
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Palmar hyperhidrosis, Nail dystrophy, Patchy alopecia, Enamel hypoplasia... OMIM:226650
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Folliculitis, Nail dystrophy, Sparse eyelashe... OMIM:612843
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Abnormal toenail morphology, Hyperkeratosis, Abn... ORPHA:494
Hereditary Mucoepithelial Dysplasia
Alopecia, Fine hair, Pulmonary fibrosis, Recurrent respiratory infections, Sparse hair, Hyperkera... ORPHA:1839
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Palmoplantar keratoderma, Small nail, Growth delay, Abnormal hair morphology, Hypohidro... OMIM:242100
Hypotrichosis 6
Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, Pruritus, ... OMIM:607903
Alopecia-Intellectual Disability Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair ORPHA:2850
Nicolaides-Baraitser Syndrome
Severe short stature, Highly arched eyebrow, Alopecia, Eczematoid dermatitis, Long eyelashes, Cur... ORPHA:3051
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair, Sparse eyelashes, Hypohidrosis... OMIM:618535
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Abnormality of the n... OMIM:607823
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Congenital alopecia totalis, Alopecia of scalp, Absent pubic hair, Absent axillar... ORPHA:2269
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopulmonary infections, Recurrent... OMIM:616576
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Hypo... OMIM:602400
Alopecia Universalis
Alopecia universalis, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of the nail ORPHA:701
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Nail d... ORPHA:79395
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Severe short stature, Alopecia, Generalized hypoplasia of dental enamel, Severe postnatal growth ... OMIM:203550
Pachyonychia Congenita
Onychogryposis of fingernail, Alopecia, Palmoplantar keratoderma, Onychogryposis of toenails, Fin... ORPHA:2309
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Sparse scalp hair, Fine hair, Alopecia of scalp, Parakeratosis, Pruritus, Hype... ORPHA:90368
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Abnormal dental enam... ORPHA:3253
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Alopecia, Sparse body hair, Ascites, Pleural effusion, Absen... ORPHA:69735
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Palmoplantar keratoderma, Abnormal fingernail morphology, Palmoplantar hyperhidrosis, A... ORPHA:659
Netherton Syndrome
Sparse eyebrow, Eczematoid dermatitis, Fine hair, Dehydration, Abnormal hair morphology, Trichorr... ORPHA:634
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Palmoplantar... OMIM:300918
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Severe short stature, Alopecia, Moderate postnatal growth retardation, Abnormal dental enamel mor... ORPHA:1005
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Alopecia, Coarse hair, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Chronic... OMIM:158310
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia, Hyperkeratosis, Scarring OMIM:247100
Localized Junctional Epidermolysis Bullosa
Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystrophy, Sparse axillary... ORPHA:251393
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Lymphedema, Reduced subcutaneous adipose tissue, Sparse eyelashes, Absent eyelashes, No... OMIM:137940
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis OMIM:614564
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyebrow, Orthokeratosis, Sparse eyelashes, Parakeratosis, Enamel hypoplasia, Thi... OMIM:607626
Centrifugal Lipodystrophy
Alopecia, Inflammatory abnormality of the skin, Absence of subcutaneous fat, Reduced subcutaneous... ORPHA:90156
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Nail dystrophy ORPHA:1366
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toena... ORPHA:2930
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Alopecia, Atrichia, Nail dystrophy, Short stature, Growth delay, Congenital abnormal h... ORPHA:1867
Alpha-Heavy Chain Disease
Ascites, Alopecia, Growth delay ORPHA:100025
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Palmoplantar keratoderma, Erythroderma, Short stature, Sparse hair, Fragile nails OMIM:242150
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Nail dystrophy, Sparse eyelashes, Palmoplanta... OMIM:605676
Omenn Syndrome
Pneumonia, Alopecia, Eosinophilia, Erythroderma, Aplasia/Hypoplasia of the eyebrow, Pruritus, Edema ORPHA:39041
Systemic Lupus Erythematosus 17
Alopecia, Malar rash OMIM:301080
Ectodermal Dysplasia-Skin Fragility Syndrome
Alopecia universalis, Recurrent pneumonia, Palmoplantar keratoderma, Chapped lip, Recurrent skin ... ORPHA:158668
X-Linked Agammaglobulinemia
Cellulitis, Alopecia, Recurrent pneumonia, Skin rash, Short stature, Abnormal lung morphology, Re... ORPHA:47
Incontinentia Pigmenti
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged... OMIM:308300
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Malar rash, Chilblains, Recurrent lower respiratory tract infect... OMIM:620321
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Alopecia totalis, Neonatal death, Anonychia, Acantholysis, Absent fingernail OMIM:609638
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Intrauterine growth retardation, Nail dystrophy, Pulmonary artery stenosis... ORPHA:75389
Rapp-Hodgkin Syndrome
Sparse hair, Sparse eyebrow, Palmoplantar keratoderma, Small nail, Decreased number of sweat glan... OMIM:129400
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Cellulitis, Eczematoid dermatitis, Atelectasis, Abnormal hair morphology, Skin rash, Dystrophic f... ORPHA:2314
Rhizomelic Chondrodysplasia Punctata, Type 1
Severe short stature, Alopecia, Flexion contracture, Rhizomelia OMIM:215100
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyebrow, Sparse eyelashes, Hyperkeratosis OMIM:610768
Rhizomelic Chondrodysplasia Punctata
Alopecia, Rhizomelia, Sparse body hair, Short stature, Growth delay ORPHA:177
Incontinentia Pigmenti
Alopecia, Ridged fingernail, Dystrophic toenail, Supernumerary nipple, Abnormal hair morphology, ... ORPHA:464
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia, Reduced subcutaneous adipose tissue, Delayed puberty, Short stature, Limb joint contrac... OMIM:612079
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Renpenning Syndrome
Severe short stature, Alopecia, Abnormal hairshaft morphology, Thin eyebrow, Growth delay ORPHA:3242
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Sparse hair, Nail dystrophy OMIM:616353
Hypomelanosis Of Ito
Alopecia OMIM:300337
Keutel Syndrome
Alopecia, Recurrent sinusitis, Pulmonary artery stenosis, Short stature, Recurrent respiratory in... ORPHA:85202
Holocarboxylase Synthetase Deficiency
Perioral eczema, Alopecia, Growth delay, Eczematoid dermatitis ORPHA:79242
Mandibuloacral Dysplasia
Alopecia, Increased subcutaneous truncal adipose tissue, Contractures of the large joints, Increa... ORPHA:2457
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Alopecia, Flexion contracture, Short stature ORPHA:88630
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Adult Syndrome
Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, H... ORPHA:978
Johnson Neuroectodermal Syndrome
Severe short stature, Alopecia, Absent eyelashes, Hypohidrosis, Absent eyebrow, Sparse hair ORPHA:2316
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Eczematoid dermatitis OMIM:617443
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Dorsocervical fat pad, Acne, Hirsutism OMIM:615830
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Coarse hair, Sparse eyelashes, Severe postnatal growth retardation, Patchy alopec... ORPHA:35173
Immunodeficiency, Common Variable, 10
Recurrent pneumonia, Alopecia totalis, Psoriasiform dermatitis, Recurrent viral upper respiratory... OMIM:615577
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy OMIM:618373
Lethal Acantholytic Erosive Disorder
Congenital alopecia totalis, Absent hair, Intrauterine growth retardation, Oligohydramnios, Absen... ORPHA:158687
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent lower respiratory tract infections, Alopecia, Recurrent upper respiratory tract infecti... OMIM:615559
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Recurrent upper respiratory tract infections, Eosinophilia, Erythroderma, Recurrent low... ORPHA:169154
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Alopecia, Ascites, Malar rash, Pleural effusion, Skin rash, Pericardial effus... ORPHA:93552
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Alopecia universalis, Eczematoid dermatitis, Psoriasiform dermatitis, Patchy alopecia... OMIM:606367
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Bresek Syndrome
Intrauterine growth retardation, Alopecia, Growth delay, Neonatal death ORPHA:85284
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Neonatal death, Absent eyelashes, Absent eyebrow, Follicular hyperkeratosis, Erythroderma, Recurr... OMIM:308205
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Monosomy 18P
Low posterior hairline, Alopecia, Short stature, Lymphedema ORPHA:1598
Adams-Oliver Syndrome 2
Alopecia, Oligohydramnios, Small nail, Low anterior hairline OMIM:614219
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Cahmr Syndrome
Generalized hypertrichosis OMIM:211770
H Syndrome
Alopecia, Hypertrichosis, Abnormal eyebrow morphology, Upper eyelid edema, Psoriasiform dermatiti... ORPHA:168569
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Pili torti, Fragile nails OMIM:261990
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Erythema nodosum, Abnormal pulmonary interstitial morp... OMIM:612387
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Generalized lipodystrophy, Decreased adipose tissue around neck, Loss of truncal subcut... OMIM:608612
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Alopecia, Oligohydramnios, Fine hair ORPHA:228390
Mixed Connective Tissue Disease
Alopecia, Xerostomia, Joint swelling, Skin rash, Abnormal pulmonary interstitial morphology, Pulm... ORPHA:809
Dyskeratosis Congenita
Alopecia, Palmoplantar keratoderma, White hair, Premature graying of hair, Abnormal fingernail mo... ORPHA:1775
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Orthokeratosis, Small nail, Umbilical hernia, Parakeratosis, Stillbirth, Short stature,... OMIM:308050
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Alopecia totalis, Ps... ORPHA:293978
Hemochromatosis, Type 1
Ascites, Alopecia, Pleural effusion OMIM:235200
Acrodermatitis Enteropathica
Alopecia, Ridged fingernail, Abnormal eyebrow morphology, Ridged nail, Pustule, Short stature, Ab... ORPHA:37
Allergic Bronchopulmonary Aspergillosis
Abnormal fingernail morphology, Abnormal eosinophil morphology, Emphysema, Bronchiectasis ORPHA:1164
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Periphera... ORPHA:79126
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Hypereosinophilia, Pleural effusion, Hypersensitivity pneumonitis ORPHA:2902
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Fine hair, Premature graying of hair, Intrauterine growth retardation, Nail dystrophy, ... OMIM:613990
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Alopecia, Erythroderma, Eczematoid dermatitis OMIM:304790
Immunodeficiency 7
Patchy alopecia, Hypereosinophilia, Recurrent respiratory infections, Chronic oral candidiasis OMIM:615387
Kury-Isidor Syndrome
Alopecia, Growth delay, Hypertrichosis OMIM:619762
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Macs Syndrome
Alopecia, Sparse eyebrow, Umbilical hernia, Short stature, Palpebral edema, Sparse hair, Bronchie... OMIM:613075
Omenn Syndrome
Pneumonia, Eosinophilia, Alopecia, Erythroderma OMIM:603554
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Subpleur... ORPHA:2302
Bronchopulmonary Dysplasia
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis ORPHA:70589
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Decreased cervical spine flexion due to contractures of posterior cer... ORPHA:254361
Mogs-Cdg
Generalized edema, Alopecia, Fair hair, Long eyelashes, Hirsutism, Pulmonary edema, Polyhydramnio... ORPHA:79330
Flynn-Aird Syndrome
Alopecia ORPHA:2047
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Palmoplantar keratoderma, Atrophic scars, Nail dystrophy, Scarring, Enamel hypoplasia, ... ORPHA:79396
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes OMIM:616367
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Alopecia, Sparse eyebrow, Small nail, Increased nuchal translucency, Inguinal hernia, Hypoplastic... ORPHA:544488
Systemic Sclerosis
Alopecia, Abnormal pulmonary interstitial morphology, Joint swelling, Hypohidrosis, Pulmonary fib... ORPHA:90291
Gomez-Lopez-Hernandez Syndrome
Short stature, Alopecia OMIM:601853
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis, Edema OMIM:267450
Waardenburg Syndrome Type 3
Atelectasis, Thick eyebrow, White hair, Camptodactyly of finger ORPHA:896
Adams-Oliver Syndrome
Alopecia, Hypoplastic fingernail, Ascites, Aplastic/hypoplastic toenail, Pulmonary artery atresia... ORPHA:974
Autoimmune Polyendocrinopathy Type 1
Abnormal fingernail morphology, Alopecia, Chronic mucocutaneous candidiasis ORPHA:3453
Hutchinson-Gilford Progeria Syndrome
Alopecia, Absence of subcutaneous fat, Growth delay OMIM:176670
Frontonasal Dysplasia 2
Sparse eyebrow, Fine hair, Alopecia totalis, Intrauterine growth retardation, Oligohydramnios, Sp... OMIM:613451
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Alopecia, Small nail, Intrauterine growth retardation, Inguinal hernia, Absent eyelashes, Absent ... ORPHA:166035
Celiac Disease, Susceptibility To, 1
Alopecia, Eczematoid dermatitis, Postnatal growth retardation, Delayed puberty, Enamel hypoplasia... OMIM:212750
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Severe short stature, Alopecia, Growth delay, Eczematoid dermatitis, Hypoplastic fingernail, Abno... ORPHA:2273
Rothmund-Thomson Syndrome
Facial edema, Sparse eyebrow, Small nail, Abnormal dental enamel morphology, Alopecia totalis, Ma... ORPHA:2909
Short Syndrome
Severe short stature, Alopecia, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy... ORPHA:3163
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Alopecia OMIM:620651
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexio... OMIM:248370
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Atrophic scars, Corneal scarring, Nail dystrophy, Nail dysplasia, Enamel hypoplasia, Fl... OMIM:226600
Gapo Syndrome
Alopecia, Sparse eyebrow, Growth delay, Umbilical hernia, Sparse eyelashes, Short stature, Palpeb... ORPHA:2067
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Alopecia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Psoriasiform de... ORPHA:37042
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple ORPHA:3224
Johanson-Blizzard Syndrome
Alopecia, Intrauterine growth retardation, Abnormal hair pattern, Short stature, Edema ORPHA:2315
Ane Syndrome
Alopecia, Multiple joint contractures, Delayed puberty, Short stature, Lipoatrophy ORPHA:157954
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia universalis, Alopecia, Chronic mucocutaneous candidiasis, Nail dystrophy, Enamel hypopla... OMIM:240300
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Bartsocas-Papas Syndrome
Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toenails, Aplasia/Hypoplasia of the eye... ORPHA:1234
Birt-Hogg-Dubé Syndrome
Emphysema, Multiple lipomas, Pneumothorax, Pulmonary sequestration ORPHA:122
Dermatomyositis
Cellulitis, Alopecia, Chondrocalcinosis, Abnormal eosinophil morphology, Heliotrope rash, Pulmona... ORPHA:221
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Premature graying of hair, Ridged nail, Interstitial pneumonitis, Nail dystrophy, Pulmo... OMIM:127550
Hypocomplementemic Urticarial Vasculitis
Angioedema, Ascites, Emphysema, Pleural effusion, Skin rash, Pericardial effusion, Pruritus ORPHA:36412
Giant Cell Arteritis
Recurrent pharyngitis, Alopecia, Hyperhidrosis, Abnormal pleura morphology ORPHA:397
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Short stature, Patchy alopecia, Camptodactyly of finger ORPHA:85279
Biotinidase Deficiency
Seborrheic dermatitis, Alopecia, Recurrent skin infections, Skin rash OMIM:253260
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Delayed menarche, Alopecia ORPHA:412057
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Alopecia, Nail dystrophy OMIM:175500
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Alopecia ORPHA:453533
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Juvenile Dermatomyositis
Alopecia, Skin rash, Pulmonary fibrosis, Palpebral edema, Pruritus ORPHA:93672
Satoyoshi Syndrome
Abnormal hair morphology, Alopecia universalis, Sparse or absent eyelashes ORPHA:3130
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Multiple joint contractures, Low posterior hairline, Lack of facial subcutaneous fat, D... ORPHA:2959
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Alopecia, Subcutaneous lipoma, Multiple central nervous sys... OMIM:613001
Hypocalcemic Vitamin D-Resistant Rickets
Short stature, Alopecia, Abnormal adipose tissue morphology ORPHA:93160
Holocarboxylase Synthetase Deficiency
Alopecia, Skin rash OMIM:253270
Leigh Syndrome
Alopecia, Eczematoid dermatitis, Hypertrichosis, Intrauterine growth retardation, Multiple joint ... ORPHA:506
Meconium Aspiration Syndrome
Intrauterine growth retardation, Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Pneumonia, Respiratory tract infection, Atelectasis ORPHA:70587
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Palmoplantar keratoderma, Supernumerary nipple, Sparse body hair, Anhidrosis, Nail dystrophy, Spa... OMIM:106260
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Focal Dermal Hypoplasia
Alopecia, Camptodactyly of finger, Umbilical hernia, Abnormal dental enamel morphology, Congenita... ORPHA:2092
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Nail dystrophy, Delayed puberty, S... ORPHA:90154
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyebrow, Rhizomelia, Postnatal growth retardation, Sparse eyelashes, Patchy alopecia, Eryt... OMIM:302960
Nestor-Guillermo Progeria Syndrome
Alopecia, Sparse eyebrow, Growth delay, Nail dystrophy, Sparse eyelashes, Short stature, Flexion ... OMIM:614008
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Atypical Werner Syndrome
Neoplasm of the lung, Abnormal hair whorl, Alopecia, Chondrocalcinosis, Premature graying of hair... ORPHA:79474
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Short stature, Alopecia, Acne, Hirsutism ORPHA:90795
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology ORPHA:2357
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Dorsocervical fat pad, Acne, Hirsutism ORPHA:189427
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Eczematoid dermatitis, Pyoderma, Emphysema, Recurrent bronchopulmonary infec... OMIM:242700
Myotubular Myopathy With Abnormal Genital Development
Polyhydramnios, Atelectasis, Neonatal death OMIM:300219
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Alopecia, Dehydration, Pyoderma, Nail dystrophy, Pneumothorax, Anonychia, Enamel hypop... ORPHA:79404
Oculocerebrocutaneous Syndrome
Abnormal fingernail morphology, Alopecia, Congenital diaphragmatic hernia ORPHA:1647
Limb-Mammary Syndrome
Alopecia, Sparse eyebrow, Absent nipple, Breast aplasia, Psoriasiform dermatitis, Nail dysplasia,... ORPHA:69085
Adrenoleukodystrophy
Alopecia OMIM:300100
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse pubic hair, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Breast hypoplasia, Alop... ORPHA:2232
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Premature graying of hair, Emphysema, Abnormality of the pulmonary artery, ... ORPHA:363618
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Lujo Hemorrhagic Fever
Facial edema, Generalized edema, Atelectasis, Skin rash, Hyperhidrosis, Periorbital edema, Cerebr... ORPHA:319213
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... ORPHA:60032
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Short stature, Emphysema OMIM:210050
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Dyskeratosis Congenita, Digenic
Alopecia, Intrauterine growth retardation, Nail dystrophy, Sparse eyelashes, Short stature OMIM:620040
Dyskeratosis Congenita, X-Linked
Alopecia, Premature graying of hair, Pterygium of nails, Ridged nail, Intrauterine growth retarda... OMIM:305000
Schimmelpenning-Feuerstein-Mims Syndrome
Short stature, Alopecia, Growth delay OMIM:163200
Rothmund-Thomson Syndrome, Type 2
Alopecia, Sparse eyebrow, Premature graying of hair, Nail dystrophy, Sparse eyelashes, Absent eye... OMIM:268400
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Seborrheic dermatitis OMIM:210210
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Recurrent respiratory infections, Pulmonary fibros... OMIM:610978
Gapo Syndrome
Alopecia, Sparse eyebrow, Umbilical hernia, Breast hypoplasia, Sparse eyelashes, Nail dysplasia, ... OMIM:230740
Biotinidase Deficiency
Skin rash, Alopecia, Eczematoid dermatitis ORPHA:79241
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Breast aplasia, Abnormal eyebrow morphology, Absent eyelashes, Short stature, Flexion c... ORPHA:90153
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Hypophosphatasia
Short stature, Emphysema ORPHA:436
Kikuchi-Fujimoto Disease
Alopecia, Abnormal pulmonary interstitial morphology, Malar rash, Pleural effusion, Skin rash, Pu... ORPHA:50918
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchovascular interstit... ORPHA:244
Farber Disease
Recurrent upper respiratory tract infections, Atelectasis, Ascites, Nodular pattern on pulmonary ... ORPHA:333
Short-Rib Thoracic Dysplasia 12
Atelectasis, Ascites, Intrauterine growth retardation, Inguinal hernia, Neonatal death, Hypoplast... OMIM:269860
Autosomal Dominant Hypocalcemia
Abnormal fingernail morphology, Alopecia, Eczematoid dermatitis, Abnormality of the nail ORPHA:428
Leprosy
Alopecia, Sparse body hair, Loss of eyelashes, Hypohidrosis, Absent eyebrow, Hyperkeratosis ORPHA:548
Rothmund-Thomson Syndrome Type 1
Facial edema, Abnormal dental enamel morphology, Alopecia totalis, Sparse or absent eyelashes, Na... ORPHA:221008
Bloom Syndrome
Pneumonia, Bronchitis, Intrauterine growth retardation, Skin rash, Respiratory tract infection, S... ORPHA:125
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Eczematoid dermatitis, Fair hair, Postnatal growth retardation, Recurrent respiratory i... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Eczematoid dermatitis, Fair hair, Postnatal growth retardation, Recurrent respiratory i... ORPHA:363958
Alpha-1-Antitrypsin Deficiency
Emphysema, Bronchiectasis, Panniculitis, Bronchitis ORPHA:60
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Lymphedema, Ungual fibroma, Ascites, Emphysema, Pulmonary lymphangiomyo... ORPHA:538
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis, Nail dystrophy, Premature graying of hair OMIM:620365
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis, Enamel hypoplasia, Growth delay OMIM:277440
Insulin-Resistance Syndrome Type B
Pneumonia, Alopecia, Skin rash, Hirsutism ORPHA:2298
Meier-Gorlin Syndrome 4
Emphysema, Breast hypoplasia, Intrauterine growth retardation, Birth length less than 3rd percent... OMIM:613804
Hallermann-Streiff Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of hair texture, Sparse... ORPHA:2108
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Alopecia totalis, Intrauterine growth retardation OMIM:618775
Rothmund-Thomson Syndrome Type 2
Facial edema, Abnormal dental enamel morphology, Alopecia totalis, Sparse or absent eyelashes, Na... ORPHA:221016
Bartsocas-Papas Syndrome 1
Alopecia, Small nail, Alopecia totalis, Intrauterine growth retardation, Inguinal hernia, Absent ... OMIM:263650
Cutis Laxa, Autosomal Recessive, Type Ic
Morgagni diaphragmatic hernia, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelect... OMIM:613177
Sarcoidosis
Alopecia, Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Joint swelling, S... ORPHA:797
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Alopecia, Widened atrophic scar, Umbilical hernia, Inguinal hernia, Ventral hernia, P... ORPHA:536532
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Recurrent upper respiratory tract infections, Recurrent respiratory infections, Thick eyebrow, Pa... OMIM:300534
Porphyria, Congenital Erythropoietic
Alopecia, Joint contracture of the hand, Atypical scarring of skin, Hypertrichosis, Corneal scarr... OMIM:263700
Granulomatous Disease, Chronic, X-Linked
Cellulitis, Discoid lupus rash, Recurrent pneumonia, Eczematoid dermatitis, Atelectasis, Ascites,... OMIM:306400
Distal Deletion 19P
Alopecia, Keloids, Umbilical hernia, Thick eyebrow, Vaginal hernia ORPHA:96129
Neutral Lipid Storage Disease With Ichthyosis
Short stature, Alopecia ORPHA:98907
Autosomal Recessive Robinow Syndrome
Alopecia, Disproportionate short-limb short stature, Camptodactyly of finger, Umbilical hernia, F... ORPHA:1507
Ellis Van Creveld Syndrome
Neonatal short-limb short stature, Abnormal hair morphology, Abnormal fingernail morphology, Intr... ORPHA:289
Xeroderma Pigmentosum
Short stature, Alopecia, Hyperkeratosis ORPHA:910
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Chronic mucocutaneous candidiasis OMIM:269200
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Pleural effusion, Recurrent lower respir... OMIM:620233
Chand Syndrome
Nail dysplasia, Hypohidrosis, Atelectasis, Curly hair ORPHA:1401
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Sparse eyebrow, Alopecia, Small nail, Recurrent respiratory infections, Intrauterine g... OMIM:264090
Autoimmune Polyendocrinopathy Type 4
Abnormal pulmonary interstitial morphology, Alopecia, Xerostomia ORPHA:227990
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dentinogenesis imperfecta, Atelectasis, Postnatal growth retardation, Atrophic scars, Oligohydram... ORPHA:536467
Autosomal Dominant Robinow Syndrome
Severe short stature, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Camptodactyly of... ORPHA:3107
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Highly arched eyebrow, Pulmonary hypoplasia, Pulmonary artery atresia, Atelectasis, Long eyelashe... OMIM:620371
Chronic Graft Versus Host Disease
Alopecia, Xerostomia, Fasciitis, Ascites, Pleural effusion, Nail dystrophy, Onycholysis, Pneumoth... ORPHA:99921
Autoimmune Polyendocrinopathy Type 3
Abnormal pulmonary interstitial morphology, Alopecia, Xerostomia ORPHA:227982
Orofaciodigital Syndrome I
Alopecia, Dry hair, Enamel hypoplasia, Short stature, Sparse hair OMIM:311200
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis OMIM:244400
Colchicine Poisoning
Alopecia, Dehydration ORPHA:31824
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Scalp-Ear-Nipple Syndrome
Sparse pubic hair, Fine hair, Breast aplasia, Nail dysplasia, Patchy alopecia, Sparse axillary ha... OMIM:181270
Alstrom Syndrome
Short stature, Alopecia, Recurrent pneumonia OMIM:203800
Cutis Laxa, Autosomal Recessive, Type Ia
Peripheral pulmonary artery stenosis, Umbilical hernia, Emphysema, Oligohydramnios, Inguinal hern... OMIM:219100
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Alopecia, Lipodystrophy, Multiple lipomas ORPHA:2396
Phakomatosis Pigmentokeratotica
Patchy alopecia, Hyperhidrosis, Lymphedema ORPHA:2874
Zygomycosis
Cellulitis, Unusual skin infection, Atelectasis, Fasciitis, Pleural effusion, Pustule, Pneumothor... ORPHA:73263
Linear Nevus Sebaceus Syndrome
Alopecia, Growth delay ORPHA:2612
Fabry Disease
Lymphedema, Emphysema, Hypohidrosis, Delayed puberty, Short stature, Hyperkeratosis ORPHA:324
Woodhouse-Sakati Syndrome
Alopecia, Sparse hair, Fine hair OMIM:241080
Orofaciodigital Syndrome Type 1
Alopecia, Coarse hair, Abnormal dental enamel morphology, Brittle hair, Sparse hair ORPHA:2750
Viss Syndrome
Atopic dermatitis, Alopecia, Pulmonary artery aneurysm, Eczematoid dermatitis, Umbilical hernia, ... OMIM:619472
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Increased connective tissue, Recurrent lower respiratory tract infections, Cerebral ... ORPHA:258
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Atypical scarring of skin, Lymphedema, Abnormal fingernail morphology, Hyperconvex fing... ORPHA:99413
Turner Syndrome
Alopecia, Atypical scarring of skin, Lymphedema, Abnormal fingernail morphology, Hyperconvex fing... ORPHA:881
Mosaic Monosomy X
Alopecia, Atypical scarring of skin, Lymphedema, Abnormal fingernail morphology, Hyperconvex fing... ORPHA:99228
Monosomy X
Alopecia, Atypical scarring of skin, Lymphedema, Abnormal fingernail morphology, Hyperconvex fing... ORPHA:99226
Whim Syndrome
Cellulitis, Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelect... ORPHA:51636
Oculocerebrorenal Syndrome Of Lowe
Atypical scarring of skin, Fine hair, Umbilical hernia, Abnormal dental enamel morphology, Dehydr... ORPHA:534
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Cigarette-paper scars, Emphysema, Cystocel... OMIM:130050
Relapsing Polychondritis
Alopecia, Atelectasis ORPHA:728
Pallister-Killian Syndrome
Supernumerary nipple, Congenital diaphragmatic hernia, Sparse eyelashes, Sparse hair, Sparse eyeb... OMIM:601803
Systemic Lupus Erythematosus
Discoid lupus rash, Alopecia, Malar rash ORPHA:536
Meier-Gorlin Syndrome 1
Joint contracture of the hand, Emphysema, Breast hypoplasia, Long eyelashes, Intrauterine growth ... OMIM:224690
22Q11.2 Deletion Syndrome
Atelectasis, Umbilical hernia, Abnormal dental enamel morphology, Abnormal lung lobation, Intraut... ORPHA:567
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Severe short stature, Alopecia, Thin eyebrow, Intrauterine growth retardation, Loss of eyelashes,... ORPHA:2636
Behcet Syndrome
Patchy alopecia, Erythema nodosum OMIM:109650
Adams-Oliver Syndrome 1
Pulmonary artery stenosis, Alopecia, Small nail, Supernumerary nipple OMIM:100300
Sympathetic Ophthalmia
Alopecia, Poliosis ORPHA:79098
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anasarca, Ascites, Emphysema, Intrauterine growth retardation, Oligohydramnios, Inguinal hernia, ... OMIM:613658
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Intrauterine growth retardation, Alopecia, Flexion contracture OMIM:619321
Meier-Gorlin Syndrome 6
Severe short stature, Umbilical hernia, Emphysema, Delayed puberty, Recurrent respiratory infections OMIM:616835
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Emphysema, Intrauterine growth retarda... ORPHA:90349
Nocardiosis
Cellulitis, Pneumonia, Cutaneous abscess, Emphysema, Pleural effusion, Pneumothorax, Pleuritis ORPHA:31204
Steinert Myotonic Dystrophy
Polyhydramnios, Alopecia, Early balding ORPHA:273
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax, Inguinal hernia OMIM:614816
Woodhouse-Sakati Syndrome
Growth delay, Alopecia, Delayed puberty, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Common Variable Immunodeficiency
Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Bronchiectasis ORPHA:1572
Digeorge Syndrome
Recurrent pneumonia, Atelectasis, Umbilical hernia, Inguinal hernia, Recurrent sinusitis, Seborrh... OMIM:188400
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... OMIM:615067
Ring Chromosome 13 Syndrome
Alopecia, Growth delay ORPHA:96176
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Bronchiolitis, Emphysema, Postnatal growth retardation, Int... ORPHA:90348
Hutchinson-Gilford Progeria Syndrome
Dystrophic toenail, Alopecia totalis, Delayed menarche, Absence of subcutaneous fat, Loss of eyel... ORPHA:740
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Emphysema, Inguinal hernia, Uterine prolapse, Bronchiectasis OMIM:123700
African Trypanosomiasis
Alopecia, Pruritus ORPHA:3385
Glycogen Storage Disease Due To Acid Maltase Deficiency
Flexion contracture, Respiratory tract infection, Atelectasis ORPHA:365
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Pulmonary fibrosis, Atelectasis OMIM:618278
Vascular Ehlers-Danlos Syndrome
Alopecia, Pulmonary artery aneurysm, Cigarette-paper scars, Umbilical hernia, Cystocele, Inguinal... ORPHA:286
Sarcoidosis, Susceptibility To, 1
Emphysema, Pleural effusion, Pericardial effusion, Abnormal pulmonary interstitial morphology, Pu... OMIM:181000
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Oligohydramnios, Inguinal hern... OMIM:614437
Focal Dermal Hypoplasia
Supernumerary nipple, Umbilical hernia, Ridged nail, Absent toenail, Nail dystrophy, Congenital d... OMIM:305600
Neonatal Marfan Syndrome
Emphysema, Flexion contracture, Lipoatrophy ORPHA:284979
Marfan Syndrome
Pulmonary artery dilatation, Emphysema, Reduced subcutaneous adipose tissue, Pneumothorax, Campto... OMIM:154700
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sparse eyebrow, Emphysema, Intrauterine growth retardation, Broad lateral eyebrow, Proportionate ... ORPHA:500150
Marfan Syndrome
Emphysema, Spontaneous pneumothorax, Pulmonary artery dilatation, Inguinal hernia ORPHA:558
Keutel Syndrome
Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent bronchitis OMIM:245150

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 Rassf9

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 Rassf9.

No publications found that use IMPC mice or data for Rassf9.

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
Rassf9tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rassf9tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rassf9tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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