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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
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Central Centrifugal Cicatricial Alopecia
Scarring alopecia of scalp OMIM:618352
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp OMIM:610753
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Alopecia Universalis
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes ORPHA:701
Hypotrichosis 5
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair OMIM:612841
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Alopecia Areata 1
Alopecia totalis, Alopecia universalis, 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
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Hypotrichosis 3
Sparse scalp hair OMIM:613981
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair ORPHA:505
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis OMIM:104130
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Congenital alopecia totalis, Nail pits ORPHA:169095
Hypotrichosis 13
Sparse and thin eyebrow, Sparse hair, Woolly hair OMIM:615896
Hypotrichosis 1
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... OMIM:605389
Cerebellar Ataxia And Ectodermal Dysplasia
Alopecia, Sparse hair OMIM:212835
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Lanuginosa Congenita
Double eyebrow, Congenital, generalized hypertrichosis OMIM:145700
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Alopecia, Sparse hair OMIM:203600
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:444
Parc Syndrome
Alopecia, Absent eyebrow, Absent eyelashes OMIM:600331
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair OMIM:617294
Hypotrichosis 10
Sparse eyelashes, Sparse eyebrow, Sparse body hair OMIM:614238
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h... ORPHA:2722
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Alopecia of scalp, Trichodysplasia ORPHA:79129
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... ORPHA:3361
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... OMIM:602032
L-Ferritin Deficiency
Alopecia OMIM:615604
Monilethrix
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair OMIM:158000
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... OMIM:614929
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Trichodysplasia-Xeroderma
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Hypotrichosis 7
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair OMIM:604379
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Nail dystrophy, Alopecia, Nail pits OMIM:601705
Woolly Hair, Autosomal Recessive 3
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair OMIM:616760
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Pili Torti
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... ORPHA:2889
Candidiasis, Familial, 1
Alopecia OMIM:114580
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Alopecia, Woolly scalp hair, Woolly hair OMIM:601217
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Lumbar hypertrichosis, Sacral hypertrichosis, Thoracic hypertri... OMIM:117850
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair OMIM:614931
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Crandall Syndrome
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:202
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Kerion Celsi
Alopecia ORPHA:499
Pseudopelade Of Brocq
Abnormal hair morphology, Alopecia, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasi... ORPHA:129
Quinquaud Folliculitis Decalvans
Patchy alopecia, Abnormal hair morphology, Scarring alopecia of scalp ORPHA:346
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Angioma Serpiginosum, X-Linked
Fine hair, Nail dystrophy, Sparse hair OMIM:300652
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Ectodermal Dysplasia-Syndactyly Syndrome 1
Small nail, Sparse eyelashes, Sparse and thin eyebrow, Coarse hair, Alopecia, Pili torti, Absent ... OMIM:613573
Monilethrix
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... ORPHA:573
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Abnormal fingernail m... ORPHA:248
Deafness-Craniofacial Syndrome
Alopecia OMIM:125230
Hypotrichosis 12
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... OMIM:615885
Porphyria Cutanea Tarda
Alopecia, Facial hypertrichosis, Onycholysis OMIM:176100
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Alopecia OMIM:618373
Woolly Hair, Autosomal Dominant
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair OMIM:194300
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Alopecia, Sparse hair OMIM:616353
Trichotillomania
Alopecia OMIM:613229
Uncombable Hair Syndrome 3
Curly hair, Pili canaliculi, Uncombable hair OMIM:617252
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Growth delay, Alopecia, Nail dysplasia, Hypohidrosis, Pulmonary fibrosis, Erysipelas, Delayed pub... OMIM:615704
Olmsted Syndrome 1
Subungual hyperkeratosis, Pruritus, Nail dystrophy, Palmoplantar keratoderma, Parakeratosis, Nail... OMIM:614594
Hair Defect With Photosensitivity And Mental Retardation
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair OMIM:234030
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia OMIM:614564
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Alopecia, Chronic mucocutaneous candidiasis,... OMIM:618282
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Palmoplantar Keratoderma And Woolly Hair
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... OMIM:616099
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Alopecia, Sparse eyebrow, Nail dysplasia, Leukonychia, Sparse hair OMIM:104100
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Congenital Non-Bullous Ichthyosiform Erythroderma
Erythroderma, Short stature, Pruritus, Palmoplantar keratoderma, Alopecia, Abnormality of the nai... ORPHA:79394
Clouston Syndrome
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... OMIM:129500
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Abnormal hair morphology, Short stature, Alopecia, Generalize... ORPHA:317
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair OMIM:211390
Classic Mycosis Fungoides
Eczema, Pruritus, Edema, Alopecia, Skin rash, Abnormality of the nail, Hyperkeratosis ORPHA:2584
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Fine hair, Dystrophic fingernails, Dystrophic toenail, Sparse and thin eyebrow, Alopecia, Sparse ... ORPHA:1882
Skin Fragility-Woolly Hair Syndrome
Sparse eyelashes, Nail dystrophy, Alopecia, Nail dysplasia, Woolly hair, Sparse and thin eyebrow OMIM:607655
Pili Torti-Onychodysplasia Syndrome
Eczema, Keloids, Brittle hair, Palmoplantar keratoderma, Alopecia, Absent eyelashes, Absent eyebr... ORPHA:2890
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Palmoplantar keratoderma, Severe sh... ORPHA:2251
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Oliver-Mcfarlane Syndrome
Long eyebrows, Sparse hair, Long eyelashes, Alopecia OMIM:275400
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair OMIM:164680
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Nail dystrophy, Alopecia, Nail dysplasia, Palmar hyperkeratosis, Plantar h... ORPHA:79397
Olmsted Syndrome 2
Pruritus, Palmoplantar keratoderma, Parakeratosis, Woolly hair, Perioral hyperkeratosis, Hyperker... OMIM:619208
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Bathing Suit Ichthyosis
Erythroderma, Nail dystrophy, Alopecia, Parakeratosis, Hypohidrosis, Multiple joint contractures,... ORPHA:100976
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Alopecia totalis, Nail dysplasia, Camptodactyly of finger, Hyperkeratosis, Palmop... OMIM:212360
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Nail dystrophy, Alopecia, Parakeratosis, Nail dysplasia, Flexion contracture, Spars... OMIM:242300
Ichthyosis, Congenital, Autosomal Recessive 2
Small nail, Abnormal hair morphology, Growth delay, Thin nail, Palmoplantar keratoderma, Alopecia... OMIM:242100
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Recurrent sinopulmonary infections, Alopecia, Recurrent skin infections, Recurren... OMIM:616576
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp, Hyperkeratosis OMIM:136300
Pseudoprogeria Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow, Sparse hair ORPHA:2985
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Sézary Syndrome
Erythroderma, Pruritus, Nail dystrophy, Palmoplantar keratoderma, Alopecia, Edema, Abnormal pleur... ORPHA:3162
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the nail, Sparse hair, Toenail dysplasia OMIM:607823
Schöpf-Schulz-Passarge Syndrome
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Alopecia ORPHA:50944
Idiopathic Trachyonychia
Ridged nail, Fingernail dysplasia, Thin nail, Nail dystrophy, Circumungual hyperkeratosis, Fragil... ORPHA:79153
Keratoderma Hereditarium Mutilans
Alopecia, Abnormal toenail morphology, Abnormality of the nail, Honeycomb palmoplantar hyperkerat... ORPHA:494
Lichen Planopilaris
Onycholysis, Pruritus, Alopecia, Hyperkeratosis, Abnormal fingernail morphology ORPHA:525
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyelashes, Folliculitis, Nail dystrophy, Palmoplantar keratoderma, Alopecia, Scarring alop... OMIM:612843
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Sparse body hair ORPHA:2850
Hypotrichosis 6
Sparse eyelashes, Pruritus, Brittle hair, Follicular hyperkeratosis, Pili torti, Sparse and thin ... OMIM:607903
Hereditary Mucoepithelial Dysplasia
Fine hair, Alopecia, Pulmonary fibrosis, Hyperkeratosis, Recurrent respiratory infections, Sparse... ORPHA:1839
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Sparse and thin eyebrow, Sparse eyelashes, Abnormality of the nail, Alopecia OMIM:129540
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia, Reduced subcutaneous adipose tissue, Delayed puberty, Flexion contracture OMIM:612079
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Fingernail dysplasia, Abnormal fingernail morphology, Alopecia, Hypoplastic toenails, Sparse scal... ORPHA:2325
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Short stature, Alopecia OMIM:617763
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Alopecia of scalp, Sparse eyebrow, Absent pubic hair, Absent axillar... ORPHA:2269
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Severe postnatal growth retardation, Alopecia, Generalized hypoplasia of dental enamel, Severe sh... OMIM:203550
Keratoderma Hereditarium Mutilans With Ichthyosis
Nail dystrophy, Palmoplantar keratoderma, Alopecia, Parakeratosis, Orthokeratosis, Honeycomb palm... ORPHA:79395
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Eczema, Curly eyelashes, Alopecia, Abnormal hair pattern, Long eyelashes, ... ORPHA:3051
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Erythroderma, Short stature, Nail dystrophy, Alopecia, Absent eyebrow, Absent eyelashes, Inguinal... OMIM:308205
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Neoplasm of the lung, Palmoplantar keratoderma, Alopecia, Anhidrosis, Abnormal fingernail morphol... ORPHA:659
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Fine hair, Alopecia of scalp, Pruritus, Parakeratosis, Slow-growing scalp hair... ORPHA:90368
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Hyperkeratos... OMIM:300918
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Moderate postnatal growth retardation, Intrauterine growth retardation, Alopecia, Abnormal dental... ORPHA:1005
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Epidermal hyperkeratosis, Pulmonary lymphangiectasia, Sparse eyelashes, Alopecia, Reduced subcuta... OMIM:137940
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Dystrophic fingernails, Dystrophic toenail, Sparse lateral eyebrow, Nail d... ORPHA:3253
Pachyonychia Congenita
Onychogryposis of fingernail, Fingernail dysplasia, Nail dystrophy, Linear arrays of macular hype... ORPHA:2309
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse axillary hair, Sparse ha... OMIM:613102
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Ascites, Alopecia, Absent eyebrow, Absent eyelashes, Palpebral edema, Sparse scalp hair, Pleural ... ORPHA:69735
Bazex Syndrome
Liposarcoma, Lung adenocarcinoma, Pruritus, Nail dystrophy, Palmoplantar keratoderma, Yellow nail... ORPHA:166113
Localized Junctional Epidermolysis Bullosa
Atrophic, patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Scarring a... ORPHA:251393
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lack of facial subcutaneous fat, Absence of subcutaneous fa... ORPHA:90156
Cronkhite-Canada Syndrome
Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Alopecia, Hypoplastic toenails, Abno... ORPHA:2930
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis ORPHA:1366
Hypervitaminosis A, Susceptibility To
Alopecia totalis OMIM:240150
Bleeding Disorder, Platelet-Type, 21
Alopecia OMIM:617443
Hereditary Bullous Dystrophy, Macular Type
Growth delay, Pneumonia, Short stature, Nail dystrophy, Alopecia, Atrichia, Congenital abnormal h... ORPHA:1867
Alpha-Heavy Chain Disease
Alopecia, Growth delay, Ascites ORPHA:100025
Omenn Syndrome
Eosinophilia, Erythroderma, Pneumonia, Pruritus, Edema, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:39041
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Netherton Syndrome
Fine hair, Eczema, Sparse eyelashes, Erythroderma, Abnormal hair morphology, Short stature, Spars... ORPHA:634
X-Linked Agammaglobulinemia
Short stature, Recurrent cutaneous abscess formation, Alopecia, Recurrent pneumonia, Skin rash, A... ORPHA:47
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Ectodermal Dysplasia-Skin Fragility Syndrome
Scarring, Short stature, Chapped lip, Pruritus, Nail dystrophy, Palmoplantar keratoderma, Follicu... ORPHA:158668
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Sparse eyelashes, Alopecia, Parakeratosis, Enamel hypoplasia, Orthokeratosis, Thick hair, Sparse ... OMIM:607626
Rhizomelic Chondrodysplasia Punctata, Type 1
Rhizomelia, Alopecia, Flexion contracture, Severe short stature OMIM:215100
Johnson Neuroectodermal Syndrome
Growth delay, Short stature, Alopecia, Absent eyebrow, Absent eyelashes, Hypohidrosis, Sparse hair OMIM:147770
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Intrauterine growth retardation, Short stature, Brittle hair, Alopecia, Nail dystrophy, Coarse ha... ORPHA:75389
Rhizomelic Chondrodysplasia Punctata
Growth delay, Short stature, Rhizomelia, Alopecia, Sparse body hair ORPHA:177
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Neonatal death, Alopecia totalis, Absent fingernail, Alopecia universalis, Anonychia OMIM:609638
Mucoepithelial Dysplasia, Hereditary
Chronic monilial nail infection, Pneumonia, Nail dystrophy, Alopecia, Coarse hair, Chronic mucocu... OMIM:158310
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Alopecia ORPHA:50812
Holocarboxylase Synthetase Deficiency
Eczema, Alopecia, Growth delay, Perioral eczema ORPHA:79242
Johnson Neuroectodermal Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Severe short stature, Hypohidrosis, Sparse hair ORPHA:2316
Renpenning Syndrome
Growth delay, Thin eyebrow, Alopecia, Severe short stature, Abnormal hair laboratory examination ORPHA:3242
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Fragile nails, Alopecia, Erythroderma, Short stature OMIM:242150
Incontinentia Pigmenti
Broad nail, Abnormal hair morphology, Short stature, Dystrophic toenail, Alopecia, Abnormal denta... ORPHA:464
Omenn Syndrome
Eosinophilia, Alopecia, Erythroderma, Pneumonia OMIM:603554
Hypomelanosis Of Ito
Alopecia OMIM:300337
Hemifacial Atrophy, Progressive
Poliosis, Patchy alopecia OMIM:141300
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Reduced intrathoracic adipose tissue, Alopecia, Inc... ORPHA:2457
Adult Syndrome
Fine hair, Hypoplastic nipples, Fingernail dysplasia, Alopecia, Sparse scalp hair, Abnormality of... ORPHA:978
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Short stature, Mild intrauterine growth retardation, Alopecia, Stillbirth, Parakeratosis, Abnorma... OMIM:308050
Frontonasal Dysplasia 2
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Alopecia OMIM:613451
Multiple Carboxylase Deficiency
Alopecia, Skin rash ORPHA:148
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hirsutism, Dorsocervical fat pad, Alopecia, Acne OMIM:615830
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Keutel Syndrome
Short stature, Alopecia, Pulmonary artery stenosis, Recurrent respiratory infections, Recurrent s... ORPHA:85202
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Erythroderma, Severe postnatal growth retardation, Short stature, Coarse hair, ... ORPHA:35173
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Erythroderma, Edema, Alopecia, Polyhydramnios, Postnatal growth retardation, Sp... OMIM:302960
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent upper respiratory tract infections, Alopecia, Recurrent sinusitis, Recurrent lower resp... OMIM:615559
Macs Syndrome
Short stature, Bronchiectasis, Alopecia, Palpebral edema, Sparse and thin eyebrow, Sparse hair, U... OMIM:613075
Lethal Acantholytic Erosive Disorder
Congenital alopecia totalis, Intrauterine growth retardation, Acantholysis, Absent hair, Absent t... ORPHA:158687
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Recurrent viral upper respiratory tract infections, Alopecia totalis, Re... OMIM:615577
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Ascites, Discoid lupus rash, Alopecia, Edema, Malar rash, Skin rash, Pleura... ORPHA:93552
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Recurrent bronchitis, Bronchiectasis, Nail dystrophy, Alopecia, Alopecia... ORPHA:293978
Bresek Syndrome
Neonatal death, Alopecia, Intrauterine growth retardation, Growth delay ORPHA:85284
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, Alopecia universalis, Erythroderma, Patchy alopecia, Chronic ora... OMIM:606367
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Monosomy 18P
Low posterior hairline, Alopecia, Short stature, Lymphedema ORPHA:1598
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Alopecia, Recurrent lower respiratory tract infections, Recurrent upper respiratory... ORPHA:169154
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Brittle hair,... OMIM:608612
Scleroderma
Peau d'orange, Pruritus, Fasciitis, Alopecia, Abnormal pulmonary interstitial morphology, Hypereo... ORPHA:801
H Syndrome
Psoriasiform dermatitis, Hypertrichosis, Short stature, Bronchiectasis, Alopecia, Lipodystrophy, ... ORPHA:168569
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Cahmr Syndrome
Generalized hypertrichosis OMIM:211770
Mixed Connective Tissue Disease
Xerostomia, Alopecia, Pleuritis, Abnormal pulmonary interstitial morphology, Skin rash, Pulmonary... ORPHA:809
Rapp-Hodgkin Syndrome
Fine hair, Small nail, Short stature, Decreased number of sweat glands, Progressive alopecia, Hyp... OMIM:129400
Hemochromatosis, Type 1
Alopecia, Pleural effusion, Ascites OMIM:235200
Mandibulofacial Dysostosis With Alopecia
Sparse and thin eyebrow, Sparse eyelashes, Alopecia OMIM:616367
Abnormal Hair, Joint Laxity, And Developmental Delay
Small nail, Sparse lateral eyebrow, Alopecia, Trichorrhexis nodosa, Pili torti, Fragile nails OMIM:261990
Dyskeratosis Congenita, Autosomal Dominant 3
Fine hair, Intrauterine growth retardation, Growth delay, Short stature, Alopecia, Nail dysplasia... OMIM:613990
Acrodermatitis Enteropathica
Pustule, Short stature, Ridged nail, Alopecia, Abnormal eyebrow morphology, Abnormality of the na... ORPHA:37
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Eosinophilia, Erythroderma, Alopecia OMIM:304790
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Alopecia, Increase... OMIM:248370
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Growth delay, Nail dystrophy, Palmoplantar keratoderma, Alopecia, Atrophic scars, Ename... ORPHA:79396
Autoimmune Polyendocrinopathy Type 1
Abnormal fingernail morphology, Alopecia, Chronic mucocutaneous candidiasis ORPHA:3453
Rothmund-Thomson Syndrome
Sparse eyelashes, Small nail, Short stature, Alopecia totalis, Abnormal dental enamel morphology,... ORPHA:2909
Adams-Oliver Syndrome
Ascites, Alopecia, Aplastic/hypoplastic toenail, Hypoplastic fingernail, Absent fingernail, Spars... ORPHA:974
Dyskeratosis Congenita
Intrauterine growth retardation, Short stature, White hair, Nail dystrophy, Palmoplantar keratode... ORPHA:1775
Systemic Sclerosis
Pruritus, Alopecia, Abnormal pulmonary interstitial morphology, Recurrent skin infections, Pulmon... ORPHA:90291
Flynn-Aird Syndrome
Alopecia ORPHA:2047
Short Syndrome
Lipodystrophy, Abnormal dental enamel morphology, Alopecia, Severe short stature, Sparse hair, In... ORPHA:3163
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Nail dystrophy, Alopecia, Sparse hair, Premature graying of hair, Nail pits OMIM:127550
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Thin fingernail, Omphalocele, Eczema, Abnormal hair morphology, Thin eyebrow, Growth delay, Alope... ORPHA:2273
Gapo Syndrome
Sparse eyelashes, Growth delay, Short stature, Early balding, Alopecia, Palpebral edema, Sparse a... ORPHA:2067
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Small nail, Intrauterine growth retardation, Short stature, Alopecia, Absent eyebrow, Absent eyel... ORPHA:166035
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Fine hair, Oligohydramnios, Alopecia, Intrauterine growth retardation ORPHA:228390
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sparse eyelashes, Small nail, Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Polyhyd... ORPHA:544488
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nail dystrophy, Chronic oral candidiasis, Alopecia, Chronic mucocutaneous candidiasis, Enamel hyp... OMIM:240300
Kid Syndrome
Trichilemmoma, Psoriasiform dermatitis, Sparse eyelashes, Folliculitis, Recurrent cutaneous absce... ORPHA:477
Mogs-Cdg
Hirsutism, Edema, Alopecia, Long eyelashes, Polyhydramnios, Pulmonary edema, Generalized edema, F... ORPHA:79330
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Anonychia, Sparse eyelashes, Nail dystrophy, Palmoplantar keratoderma, Absent eyelashes, Hypercon... OMIM:106260
Gomez-Lopez-Hernandez Syndrome
Alopecia, Short stature OMIM:601853
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Pneumothorax, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Abnorm... OMIM:612387
Hutchinson-Gilford Progeria Syndrome
Absence of subcutaneous fat, Alopecia, Growth delay OMIM:176670
Celiac Disease, Susceptibility To, 1
Eczema, Short stature, Alopecia, Enamel hypoplasia, Postnatal growth retardation, Delayed puberty OMIM:212750
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Growth delay, Corneal scarring, Nail dystrophy, Alopecia, Atrophic scars, Enamel hypoplasia, Nail... OMIM:226600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Eczema, Psoriasiform dermatitis, Pne... ORPHA:37042
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple ORPHA:3224
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Primary Pigmented Nodular Adrenocortical Disease
Hirsutism, Growth delay, Dorsocervical fat pad, Alopecia, Acne, Abnormal subcutaneous fat tissue ... ORPHA:189439
Johanson-Blizzard Syndrome
Intrauterine growth retardation, Short stature, Edema, Alopecia, Abnormal hair pattern ORPHA:2315
Holocarboxylase Synthetase Deficiency
Alopecia, Skin rash OMIM:253270
Bartsocas-Papas Syndrome
Aplasia/Hypoplasia of the eyebrow, Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toen... ORPHA:1234
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Patchy alopecia, Short stature, Camptodactyly of finger ORPHA:85279
Ane Syndrome
Short stature, Alopecia, Lipoatrophy, Multiple joint contractures, Delayed puberty ORPHA:157954
Biotinidase Deficiency
Seborrheic dermatitis, Recurrent skin infections, Skin rash, Alopecia OMIM:253260
Juvenile Dermatomyositis
Pruritus, Alopecia, Palpebral edema, Skin rash, Pulmonary fibrosis ORPHA:93672
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Delayed menarche ORPHA:412057
Giant Cell Arteritis
Recurrent pharyngitis, Alopecia, Hyperhidrosis, Abnormal pleura morphology ORPHA:397
Progeria-Short Stature-Pigmented Nevi Syndrome
Lack of facial subcutaneous fat, Short stature, Alopecia, Multiple joint contractures, Low poster... ORPHA:2959
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Nail dystrophy, Alopecia OMIM:175500
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal hair morphology, Short stature, Nail dystrophy, Alopecia, Generalized lipodystrophy, Del... ORPHA:90154
Gapo Syndrome
Sparse eyelashes, Hypoplastic nipples, Sparse hair, Growth delay, Alopecia, Sparse eyebrow, Nail ... OMIM:230740
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal adipose tissue morphology, Alopecia, Short stature ORPHA:93160
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Alopecia, Lipoma, Subcutaneous lipoma, Multiple central ner... OMIM:613001
Satoyoshi Syndrome
Alopecia universalis, Abnormal hair morphology, Sparse or absent eyelashes ORPHA:3130
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hirsutism, Dorsocervical fat pad, Alopecia, Acne ORPHA:189427
Incontinentia Pigmenti
Atrophic, patchy alopecia, Fine hair, Hypoplastic nipples, Sparse hair, Scarring, Short stature, ... OMIM:308300
Leigh Syndrome
Eczema, Hypertrichosis, Intrauterine growth retardation, Growth delay, Alopecia, Frontal hirsutis... ORPHA:506
Focal Dermal Hypoplasia
Omphalocele, Aplasia/Hypoplasia of the lungs, Abnormality of the pulmonary vasculature, Congenita... ORPHA:2092
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hirsutism, Alopecia, Acne, Short stature ORPHA:90795
Limb-Mammary Syndrome
Psoriasiform dermatitis, Hypoplastic nipples, Alopecia, Sparse eyebrow, Bilateral breast hypoplas... ORPHA:69085
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Abnormal fingernail morphology, Alopecia ORPHA:1647
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seborrheic dermatitis, Alopecia OMIM:210210
Lmna-Related Cardiocutaneous Progeria Syndrome
Sparse hair, Absent eyebrow, Absent eyelashes, Lipoatrophy, Abnormality of the pulmonary artery, ... ORPHA:363618
Alstrom Syndrome
Alopecia, Recurrent pneumonia, Short stature OMIM:203800
Adrenoleukodystrophy
Alopecia OMIM:300100
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Postnatal growth retardation ORPHA:453533
Rothmund-Thomson Syndrome, Type 2
Sparse eyelashes, Nail dystrophy, Alopecia, Sparse eyebrow, Absent eyebrow, Absent eyelashes, Spa... OMIM:268400
Severe Generalized Junctional Epidermolysis Bullosa
Pyoderma, Pneumonia, Growth delay, Pneumothorax, Nail dystrophy, Alopecia, Edema, Enamel hypoplas... ORPHA:79404
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Alopecia of scalp, Growth delay, Alopecia, Abnormal eyebrow morphology, Sparse pubic hair, Delaye... ORPHA:2232
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Growth delay, Short stature OMIM:163200
Atypical Werner Syndrome
Neoplasm of the lung, Chondrocalcinosis, Abnormal hair morphology, Short stature, Alopecia, Gener... ORPHA:79474
Dyskeratosis Congenita, X-Linked
Sparse eyelashes, Intrauterine growth retardation, Split nail, Short stature, Ridged nail, Nail d... OMIM:305000
Nestor-Guillermo Progeria Syndrome
Sparse eyelashes, Growth delay, Short stature, Nail dystrophy, Alopecia, Sparse scalp hair, Lipoa... OMIM:614008
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Alopecia, Abnormal hair quantity ORPHA:457059
Leprosy
Alopecia, Absent eyebrow, Hypohidrosis, Loss of eyelashes, Hyperkeratosis, Sparse body hair ORPHA:548
Rothmund-Thomson Syndrome Type 1
Growth delay, Short stature, Alopecia totalis, Abnormal dental enamel morphology, Facial edema, N... ORPHA:221008
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short stature, Alopecia, Absent eyelashes, Abnormal eyebrow morphology, Flexion contracture, Brea... ORPHA:90153
Biotinidase Deficiency
Eczematoid dermatitis, Alopecia, Skin rash ORPHA:79241
Autosomal Dominant Hypocalcemia
Abnormal fingernail morphology, Eczema, Alopecia, Abnormality of the nail ORPHA:428
Porphyria, Congenital Erythropoietic
Hypertrichosis, Short stature, Corneal scarring, Alopecia, Absent eyebrow, Joint contracture of t... OMIM:263700
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Pyoderma, Bronchiectasis, Recurrent bronchopulmonary infections, Recurrent... OMIM:242700
Kikuchi-Fujimoto Disease
Pustule, Pruritus, Alopecia, Malar rash, Abnormal pulmonary interstitial morphology, Skin rash, P... ORPHA:50918
Insulin-Resistance Syndrome Type B
Alopecia, Hirsutism, Skin rash, Pneumonia ORPHA:2298
Rothmund-Thomson Syndrome Type 2
Growth delay, Short stature, Alopecia totalis, Abnormal dental enamel morphology, Facial edema, N... ORPHA:221016
Hallermann-Streiff Syndrome
Sparse eyelashes, Alopecia, Abnormality of hair texture, Sparse and thin eyebrow, Sparse hair, Sp... ORPHA:2108
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis, Enamel hypoplasia, Growth delay OMIM:277440
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis, Intrauterine growth retardation, Pericardial effusion OMIM:618775
Koolen-De Vries Syndrome Due To A Point Mutation
Eczema, Alopecia, Postnatal growth retardation, Hyperkeratosis, Recurrent respiratory infections,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Eczema, Alopecia, Postnatal growth retardation, Hyperkeratosis, Recurrent respiratory infections,... ORPHA:363958
Bloom Syndrome
Sparse eyelashes, Intrauterine growth retardation, Growth delay, Pneumonia, Severe postnatal grow... ORPHA:125
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Umbilical hernia, Alopecia, Inguinal hernia, Ventral hernia, Cellulitis, Wi... ORPHA:536532
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short stature, Recurrent upper respiratory tract infections, Recurrent respiratory infections, Th... OMIM:300534
Bartsocas-Papas Syndrome 1
Anonychia, Omphalocele, Small nail, Intrauterine growth retardation, Alopecia, Absent eyebrow, Ar... OMIM:263650
Distal Monosomy 19P13.3
Keloids, Alopecia, Thick eyebrow, Vaginal hernia, Umbilical hernia ORPHA:96129
Sarcoidosis
Scarring, Bronchiectasis, Pneumothorax, Alopecia, Joint swelling, Maculopapular exanthema, Abnorm... ORPHA:797
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Chronic mucocutaneous candidiasis OMIM:269200
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Short stature ORPHA:98907
Xeroderma Pigmentosum
Alopecia, Short stature, Hyperkeratosis ORPHA:910
Orofaciodigital Syndrome I
Enamel hypoplasia, Sparse hair, Short stature, Alopecia OMIM:311200
Autoimmune Polyendocrinopathy Type 4
Xerostomia, Abnormal pulmonary interstitial morphology, Alopecia ORPHA:227990
Autosomal Dominant Robinow Syndrome
Short stature, Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Curly eyelashes, Lon... ORPHA:3107
Colchicine Poisoning
Alopecia, Dehydration ORPHA:31824
Autosomal Recessive Robinow Syndrome
Fingernail dysplasia, Alopecia, Long eyelashes, Inguinal hernia, Disproportionate short-limb shor... ORPHA:1507
Autoimmune Polyendocrinopathy Type 3
Xerostomia, Abnormal pulmonary interstitial morphology, Alopecia ORPHA:227982
Chronic Graft Versus Host Disease
Bronchiolitis obliterans, Onycholysis, Bronchiectasis, Xerostomia, Pneumothorax, Fasciitis, Nail ... ORPHA:99921
Woodhouse-Sakati Syndrome
Fine hair, Sparse hair, Alopecia OMIM:241080
Linear Nevus Sebaceus Syndrome
Alopecia, Growth delay ORPHA:2612
Encephalocraniocutaneous Lipomatosis
Lipodystrophy, Alopecia, Abnormal eyelash morphology, Multiple lipomas ORPHA:2396
Knobloch Syndrome 1
Alopecia OMIM:267750
Orofaciodigital Syndrome Type 1
Brittle hair, Coarse hair, Abnormal dental enamel morphology, Alopecia, Sparse hair ORPHA:2750
Viss Syndrome
Atopic dermatitis, Pulmonary artery aneurysm, Eczema, Hirsutism, Short stature, Pneumothorax, Alo... OMIM:619472
Turner Syndrome Due To Structural X Chromosome Anomalies
Intrauterine growth retardation, Growth delay, Short stature, Abnormal fingernail morphology, Alo... ORPHA:99413
Mosaic Monosomy X
Intrauterine growth retardation, Growth delay, Short stature, Abnormal fingernail morphology, Alo... ORPHA:99228
Monosomy X
Intrauterine growth retardation, Growth delay, Short stature, Abnormal fingernail morphology, Alo... ORPHA:99226
Turner Syndrome
Intrauterine growth retardation, Growth delay, Short stature, Abnormal fingernail morphology, Alo... ORPHA:881
Behcet Syndrome
Patchy alopecia, Erythema nodosum OMIM:109650
Pallister-Killian Syndrome
Omphalocele, Sparse eyelashes, Sparse and thin eyebrow, Sparse hair, Umbilical hernia, Supernumer... OMIM:601803
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Intrauterine growth retardation, Thin eyebrow, Alopecia, Severe short stature, Loss of eyelashes,... ORPHA:2636
Adams-Oliver Syndrome 1
Pulmonary artery stenosis, Small nail, Alopecia, Supernumerary nipple OMIM:100300
Ehlers-Danlos Syndrome, Vascular Type
Cystocele, Alopecia of scalp, Short stature, Cigarette-paper scars, Pneumothorax, Pulmonary bleb,... OMIM:130050
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intrauterine growth retardation, Alopecia, Short stature, Flexion contracture OMIM:619321
Steinert Myotonic Dystrophy
Early balding, Alopecia, Polyhydramnios ORPHA:273
Woodhouse-Sakati Syndrome
Growth delay, Aplasia/Hypoplasia of the eyebrow, Alopecia, Delayed puberty ORPHA:3464
African Trypanosomiasis
Pruritus, Alopecia ORPHA:3385
Ring Chromosome 13 Syndrome
Alopecia, Growth delay ORPHA:96176
Hutchinson-Gilford Progeria Syndrome
Dystrophic fingernails, Dystrophic toenail, Absence of subcutaneous fat, Alopecia totalis, Absent... ORPHA:740
Relapsing Polychondritis
Alopecia ORPHA:728
Focal Dermal Hypoplasia
Omphalocele, Hypoplastic nipples, Short stature, Absent toenail, Congenital diaphragmatic hernia,... OMIM:305600
Vascular Ehlers-Danlos Syndrome
Pulmonary artery aneurysm, Short stature, Cigarette-paper scars, Pneumothorax, Abnormal eyelash m... ORPHA:286

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.

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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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