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Gene: Lrig1 MGI:107935

Gene Summary

Name:

leucine-rich repeats and immunoglobulin-like domains 1

Synonyms:

LIG-1, Img

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal skin condition	Lrig1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.34×10^-11
abnormal tail morphology	Lrig1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.21×10^-06
decreased body length	Lrig1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.74×10^-07
abnormal behavior	Lrig1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.99×10^-05
increased heart weight	Lrig1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.92×10^-05
decreased body weight	Lrig1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.01×10^-08
decreased total body fat amount	Lrig1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.39×10^-06

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	50% (1 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	100% (2 of 2)
Gall bladder	N/A	heterozygote	50% (1 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	100% (2 of 2)
Esophagus	N/A	heterozygote	50% (1 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	Ambiguous
Pituitary gland	N/A	heterozygote	50% (1 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	100% (2 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	50% (1 of 2)
Thyroid gland	N/A	heterozygote	50% (1 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
White adipose tissue	N/A	heterozygote	50% (1 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

6 Images

View images

Legacy Phenotype Associated Images

Lrig1^{tm1a(EUCOMM)Wtsi}
forearm, WT, Female, WTSI

Lrig1^{tm1a(EUCOMM)Wtsi}
body, WT, Female, WTSI

Lrig1^{tm1a(EUCOMM)Wtsi}
head, WT, Female, WTSI

Lrig1^{tm1a(EUCOMM)Wtsi}
body, HOM, Female, WTSI

View all 50 images

Lrig1^{tm1a(EUCOMM)Wtsi}
distorted hair follicle pattern, HOM, Female, WTSI

Lrig1^{tm1a(EUCOMM)Wtsi}
abnormal epidermis stratum basale morphology, HOM, Female, WTSI

Lrig1^{tm1a(EUCOMM)Wtsi}
distorted hair follicle pattern, HOM, Female, WTSI

View all 6 images

Lrig1^{tm1a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Lrig1^{tm1a(EUCOMM)Wtsi}
eye, persistence of hyaloid vascular system, abnormal retinal pigmentation, HOM, Male, WTSI

Human diseases caused by Lrig1 mutations

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

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

Human diseases associated with Lrig1 (0 diseases)
Human diseases predicted to be associated with Lrig1 (848 diseases)

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

The table below shows human diseases predicted to be associated to Lrig1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis, Scaling skin	OMIM:617115
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Epidermal acanthosis, Absent facia...	ORPHA:90368
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:602723
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratos...	ORPHA:505
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis	OMIM:615028
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Scaling skin on fingertip, Epidermal acanthosis, Alopecia, Hypergranulosis, Honeyc...	ORPHA:79395
Acrokeratosis Verruciformis	Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkera...	OMIM:101900
Olmsted Syndrome 2	Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h...	OMIM:619208
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Posterior blepha...	OMIM:300918
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Alopecia, Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Congeni...	OMIM:242300
Bathing Suit Ichthyosis	Parakeratosis, Alopecia, Epidermal acanthosis, Thickened skin, Erythroderma, Palmoplantar hyperke...	ORPHA:100976
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis	ORPHA:464318
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis	OMIM:615598
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis, Epidermal acanthosis	ORPHA:199267
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Peeling Skin Syndrome 4	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ort...	OMIM:607936
Peeling Skin Syndrome 3	Abnormal hair morphology, Erythema, White scaling skin	OMIM:616265
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, ...	ORPHA:530838
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Epidermal acanthosis, Erythroderma, Hyperkeratosis, Palmoplantar keratoderma, Gene...	OMIM:612281
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey...	OMIM:601952
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor...	OMIM:604777
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis, Pruritus	ORPHA:737
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, ...	OMIM:607602
Familial Reactive Perforating Collagenosis	Inflammatory abnormality of the skin, Perifolliculitis, Abnormal fingernail morphology, Maculopap...	ORPHA:79147
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Bazex Syndrome	Parakeratosis, Yellow nails, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Na...	ORPHA:166113
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythroderma,...	OMIM:113800
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand...	ORPHA:64745
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema	ORPHA:83453
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy...	OMIM:615821
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I...	ORPHA:79503
Erythrokeratodermia Variabilis Et Progressiva 4	Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis	OMIM:617526
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Pustule, Erythema, Oli...	OMIM:614204
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis	OMIM:620148
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Plantar hyperkeratosis, Nail dystrophy, Pruritus	OMIM:616487
White Sponge Nevus 2	Hyperparakeratosis, Epidermal acanthosis	OMIM:615785
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera...	ORPHA:2722
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hirsutism	ORPHA:2297
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke...	ORPHA:79151
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Cutis laxa, Absent pubic hair,...	ORPHA:2269
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Ulerythema Ophryogenesis	Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, Contact dermat...	ORPHA:3406
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Dowling-Degos Disease 4	Pruritus, Epidermal acanthosis, Hypergranulosis	OMIM:615696
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Anonychia With Flexural Pigmentation	Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia	ORPHA:69125
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N...	OMIM:212360
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Ichthyosis With Confetti	Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullous ichthyos...	OMIM:609165
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle	ORPHA:158681
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati...	ORPHA:79481
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Eosinophilic i...	OMIM:615508
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Aquagenic Palmoplantar Keratoderma	Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk...	ORPHA:498359
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat...	OMIM:616295
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa...	OMIM:617294
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep...	ORPHA:87503
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Erythema, Follicular hyperkeratosis, Sp...	OMIM:607903
Idiopathic Localized Lipodystrophy	Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea	ORPHA:90158
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Erythrokeratodermia Variabilis Et Progressiva 1	Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali...	OMIM:133200
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Alopecia, Epidermal acanthosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Prur...	OMIM:607626
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Scaling skin, Nail dystrophy, Spar...	OMIM:604536
Netherton Syndrome	Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Brittle scalp hair, Ec...	OMIM:256500
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin, Generalized hirsutism	ORPHA:2812
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos...	ORPHA:454
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Acral Peeling Skin Syndrome	Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin	ORPHA:263534
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome	Psoriasiform dermatitis, Ichthyosis	ORPHA:3052
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, ...	ORPHA:2199
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi...	ORPHA:89838
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Atrophoderma Vermiculata	Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule	ORPHA:79100
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Epidermal acanthosis, Crusting erythematous dermatitis, Cutis laxa	ORPHA:79148
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis, Hypergranulosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma	OMIM:615022
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin, Patchy alopecia, Reduced epidermal extracellular matrix protein 1...	OMIM:247100
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke...	OMIM:615225
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis, Alopecia, Alopecia of scalp	OMIM:260910
Kerion Celsi	Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Alopecia, Recurrent ...	ORPHA:499
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Gen...	ORPHA:2890
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin, Abnormalit...	ORPHA:2584
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Kid Syndrome	Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Recurrent cutaneous fungal ...	ORPHA:477
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla...	ORPHA:312
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis	OMIM:148600
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokerat...	OMIM:617525
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic ...	OMIM:148700
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Hype...	ORPHA:317
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis	ORPHA:79399
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Nail pits, Arthritis, Onycholysis, Onychomadesis	OMIM:177900
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Angular cheiliti...	OMIM:613102
Ichthyosis Vulgaris	Eczematoid dermatitis, Absent keratohyalin granules, Dry skin, Ichthyosis	OMIM:146700
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi...	OMIM:224750
Ichthyosis, Congenital, Autosomal Recessive 8	Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Ichthyosis Prematurity Syndrome	Epidermal acanthosis, Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkerato...	OMIM:608649
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ...	ORPHA:90280
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia	ORPHA:2574
Mycosis Fungoides	Pruritus, Erythema, Eczema, Psoriasiform dermatitis	OMIM:254400
Acral Self-Healing Collodion Baby	Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis	OMIM:610227
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Mannose-Binding Lectin Deficiency	Recurrent herpes, Failure to thrive, Disseminated cryptosporidium infection, Recurrent Klebsiella...	OMIM:614372
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin	OMIM:618527
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Recurrent otitis media, Nail dystrop...	OMIM:618625
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo...	OMIM:614457
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Peeling Skin Syndrome 1	Brittle hair, Eosinophilia, Pruritus, Onycholysis, Nail dystrophy, Scaling skin, Erythroderma	OMIM:270300
Dermoodontodysplasia	Dry skin, Thin skin, Trichodysplasia	OMIM:125640
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis, Onycho...	ORPHA:525
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:615023
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker...	ORPHA:79397
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Facial erythema, Follicu...	OMIM:308800
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hyperkerat...	OMIM:602400
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Erythem...	ORPHA:346
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Candidiasis, Familial, 1	Alopecia, Chronic mucocutaneous candidiasis	OMIM:114580
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp...	ORPHA:2200
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality of the nail	ORPHA:254478
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Psoriasiform dermatitis, Blepharitis, Ichthyosis	OMIM:616834
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Osteopenia, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Sensorineural hea...	ORPHA:300179
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Facial erythem...	OMIM:612843
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k...	ORPHA:2897
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Dry skin, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Alopecia of scalp	OMIM:618373
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Palmoplantar hyperkeratosi...	OMIM:605676
Lamellar Ichthyosis	Pruritus, Chronic otitis media, Lack of skin elasticity, Erythroderma, Hyperkeratosis, Ichthyosis...	ORPHA:313
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Eosinophilia, Acantholysis, Pruritus, Pustule, Chei...	ORPHA:293173
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash	ORPHA:163525
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema	OMIM:617443
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Cole Disease	Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:615522
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, H...	OMIM:242100
Flynn-Aird Syndrome	Increased bone mineral density, Alopecia, Kyphoscoliosis, Joint stiffness, Osteoporosis, Hyperker...	OMIM:136300
Congenital Ichthyosiform Erythroderma	Alopecia, Pruritus, Keratitis, Erythroderma, Palmoplantar keratoderma, Ichthyosis, Abnormality of...	ORPHA:79394
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor...	ORPHA:494
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Dry skin, Scaling skin, Erythroderma	OMIM:609180
Centrifugal Lipodystrophy	Inflammatory abnormality of the skin, Alopecia, Lymphadenitis, Erythema, Scaling skin	ORPHA:90156
Darier Disease	Acrokeratosis, Abnormal hair morphology, Thickened skin, Pruritus, Palmoplantar keratoderma, Skin...	ORPHA:218
Bullous Pemphigoid	Erythema, Eczema, Psoriasiform dermatitis	ORPHA:703
Neonatal Lupus Erythematosus	Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash	ORPHA:398124
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Trichorrhexis n...	ORPHA:1010
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Recurrent respiratory infections, Block vertebrae, Abnormal odontoid...	OMIM:277300
Proteus Syndrome	Epidermal acanthosis, Kyphoscoliosis, Facial hyperostosis, Spinal canal stenosis, Hyperkeratosis,...	OMIM:176920
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop...	ORPHA:79153
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor...	ORPHA:294023
X-Linked Dominant Chondrodysplasia Punctata	Scarring alopecia of scalp, Flexion contracture, Neonatal epiphyseal stippling, Coarse hair, Scal...	ORPHA:35173
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Psoriasiform dermatitis, Eczema, Thyroiditis, Patchy alopecia, Scaling ...	OMIM:606367
Psoriasis 15, Pustular, Susceptibility To	Psoriasiform dermatitis, Nail dystrophy	OMIM:616106
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa...	OMIM:129500
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin, Ichthyosis	ORPHA:461
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna...	ORPHA:2251
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy	ORPHA:89843
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Scali...	ORPHA:454831
Cutaneous Mastocytoma	Maculopapular exanthema, Pruritus, Thickened skin, Erythema, Scaling skin	ORPHA:79455
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Facial palsy, Increased laxity of fingers, Spinal rigidity, Distal joint laxity, Ky...	OMIM:254090
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratoti...	ORPHA:38
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Scaling skin	ORPHA:90283
Aicardi-Goutieres Syndrome 5	Arthropathy, Dry skin, Flexion contracture, Scaling skin	OMIM:612952
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Joint laxity, Recurrent respiratory infections, Multiple joint contractures, Spinal rigidity, Ove...	ORPHA:486815
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Skin rash, Osteomyelitis, Pruritus, Arthritis, Palmoplantar pustul...	ORPHA:324964
Immunodeficiency, Common Variable, 10	Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Recurrent sinusiti...	OMIM:615577
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke...	ORPHA:158668
Mental Retardation And Psoriasis	Psoriasiform dermatitis	OMIM:309480
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dyst...	OMIM:617337
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifor...	OMIM:613576
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlor...	OMIM:606612
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Low posterior hairline, Abnormal cranial nerve morphology...	ORPHA:2345
Immunodeficiency 58	Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic...	OMIM:618131
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Recurrent urinary tract infections, Short neck, Webbed ne...	OMIM:244600
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Failure to thrive, Recurrent bacterial ...	OMIM:616022
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti	ORPHA:1573
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi...	OMIM:618469
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Palmoplantar keratoderm...	OMIM:618535
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Abnormal hair pattern, Short neck, Delayed...	ORPHA:2332
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers...	ORPHA:1008
Chromomycosis	Keratitis, Pruritus, Hyperparakeratosis, Hyperkeratosis, Keratoconjunctivitis sicca, Hyperkeratot...	ORPHA:182
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Epidermal acanthosis, Failure to thrive in infancy, Elevated circulati...	OMIM:612852
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Verteb...	OMIM:178110
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Immunodeficiency 49	Psoriasiform dermatitis, Eosinophilia, Hirsutism, Cutis laxa	OMIM:617237
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Iridocycliti...	ORPHA:85436
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Basan Syndrome	Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Flexion contracture of digit, Pal...	OMIM:129200
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Nail dystrophy, Palmoplantar keratoderma, Lack of skin elasticity	ORPHA:1366
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Atopic dermatitis, Bronchiectasis...	ORPHA:436159
Singleton-Merten Syndrome 2	Osteopenia, Psoriasiform lesion, Osteolytic defects of the phalanges of the hand, Hyperkeratosis,...	OMIM:616298
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema, Hearing impairment, Webbed neck	OMIM:314600
Specific Granule Deficiency 2	Osteopenia, Abnormal pinna morphology, Posteriorly rotated ears, Simple ear, Recurrent pneumonia,...	OMIM:617475
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Recurrent pne...	OMIM:618282
Sjögren-Larsson Syndrome	Erythema, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the eye	ORPHA:816
Graft Versus Host Disease	Dupuytren contracture, Fasciitis, Lipodystrophy, Limited elbow movement, Limited shoulder movemen...	ORPHA:39812
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin, Hypertrichosis	OMIM:612379
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Psoriasiform dermatitis, Recurrent skin infections, Eczema, Inflammatory abnormality of...	ORPHA:37042
Cardiofaciocutaneous Syndrome 3	Curly hair, Short neck, Reduced bone mineral density, Hyperhidrosis, Hyperkeratosis, Scoliosis, W...	OMIM:615279
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Dystrophic fingernails, Thin nail, Sparse eye...	OMIM:257980
Transgrediens Et Progrediens Palmoplantar Keratoderma	Recurrent bacterial skin infections, Plantar hyperkeratosis, Hyperconvex nail, Angular cheilitis,...	ORPHA:495
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Mpdu1-Cdg	Elevated circulating creatine kinase concentration, Optic atrophy, Hypsarrhythmia, Scaling skin, ...	ORPHA:79323
Lipoid Proteinosis	Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp	ORPHA:530
Ectodermal Dysplasia/Short Stature Syndrome	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia	OMIM:616029
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A...	ORPHA:183675
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Pachyonychia Congenita	Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp...	ORPHA:2309
Ramon Syndrome	Abnormal dental enamel morphology, Sensorineural hearing impairment, Osteolysis, Hyperkeratosis, ...	ORPHA:3019
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease	OMIM:616100
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis,...	OMIM:610768
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Irida Syndrome	Hyperkeratosis, Pallor, Ichthyosis	ORPHA:209981
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Obesity, Arthritis, Recur...	OMIM:300310
H Syndrome	Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Bronchiectasis, Chronic rhinitis,...	ORPHA:168569
Dowling-Degos Disease	Abnormal fingernail morphology, Pruritus, Hyperkeratosis, Arthritis, Skin vesicle, Hyperkeratotic...	ORPHA:79145
Bacterial Toxic-Shock Syndrome	Fasciitis, Osteomyelitis, Recurrent urinary tract infections, Elevated circulating creatine kinas...	ORPHA:36234
Prolidase Deficiency	Abnormal fingernail morphology, Pruritus, Erythema, Low anterior hairline, Crusting erythematous ...	ORPHA:742
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Porphyria Cutanea Tarda	Facial hypertrichosis, Scleroderma, Alopecia, Onycholysis	OMIM:176100
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Alopecia, Epidermal acanthosis, Erythema, Hyperkeratosis, Congenital ichthyosiform...	OMIM:308050
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Recurrent infection...	OMIM:617519
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Redundant skin, Short neck, Osteoarthritis, Generalized joint lax...	OMIM:618000
Sézary Syndrome	Alopecia, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Erythroderma, Dry skin	ORPHA:3162
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Superficial Epidermolytic Ichthyosis	Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis	ORPHA:455
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Klippel-Feil Syndrome 1, Autosomal Dominant	Mixed hearing impairment, Short neck, Sensorineural hearing impairment, Low posterior hairline, S...	OMIM:118100
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno...	ORPHA:129
Wildervanck Syndrome	Facial palsy, Short neck, Congenital sensorineural hearing impairment, Low posterior hairline, Fu...	ORPHA:3456
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac...	OMIM:607155
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Hyperkeratosis, Aplasia/Hypoplasia ...	ORPHA:238468
Klippel-Feil Syndrome 2, Autosomal Recessive	Abnormal pinna morphology, Short neck, Sensorineural hearing impairment, Low posterior hairline, ...	OMIM:214300
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
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
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Recurrent sinusitis	OMIM:617765
Recon Progeroid Syndrome	Joint laxity, Attached earlobe, Absent lower eyelashes, Recurrent infections, Microtia, Scaling s...	OMIM:620370
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy	OMIM:181600
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Erythroderma, Ichthyosis	OMIM:618840
L-Ferritin Deficiency	Alopecia	OMIM:615604
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Immunodeficiency 51	Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca...	OMIM:613953
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair	ORPHA:1883
Lymphatic Malformation 4	Hyperkeratosis, Toenail dysplasia	OMIM:615907
Leopard Syndrome 3	Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Webbed neck, Dry skin	OMIM:613707
Pachyonychia Congenita 1	Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:167200
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Diffuse Cutaneous Mastocytosis	Pruritus, Thickened skin, Scaling skin, Erythroderma	ORPHA:79456
Sapho Syndrome	Psoriasiform dermatitis, Acne, Skin rash, Recurrent skin infections, Osteomyelitis, Pustule, Syno...	ORPHA:793
Chronic Mucocutaneous Candidiasis	Abnormal fingernail morphology, Skin rash, Pruritus, Erythema, Broad nail, Skin ulcer, Hepatitis,...	ORPHA:1334
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry...	ORPHA:1028
Cortisone Reductase Deficiency 1	Alopecia, Acne, Hirsutism	OMIM:604931
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Psoriasiform dermatitis, Thickened skin, Hepatitis, Nail dystrophy, Sparse hair, ...	ORPHA:436252
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Abcd Syndrome	Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ...	OMIM:600501
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join...	OMIM:113000
Arthrogryposis, Distal, Type 2A	Joint dislocation, Short neck, Knee flexion contracture, Hernia, Spina bifida occulta, Wrist flex...	OMIM:193700
Harlequin Ichthyosis	Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis	ORPHA:457
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent sinopulmonary infections, Recurrent fractures, Craniosynostosis, Erythema, ...	OMIM:147060
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Vertebral segmentation defect	OMIM:618845
Mycetoma	Back pain, Abnormality of the knee, Recurrent bacterial skin infections, Osteomyelitis, Bone cyst...	ORPHA:2583
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosu...	OMIM:616576
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Pustule, Lymphadenitis, Myoca...	ORPHA:31205
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Bronchiectasis, Thyroid...	ORPHA:293978
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, Elbow dislocation, Kyphosis,...	ORPHA:2916
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Recurrent bacterial skin infections, Scarring, Abno...	ORPHA:101330
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Lig4 Syndrome	Psoriasiform dermatitis, Low anterior hairline, Chronic sinusitis	OMIM:606593
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Neuropathic arthropathy, Hearing impairment, Penetrating foot ulcers, Skin ulcer, ...	ORPHA:36386
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Ichthyosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Erythroderma, Palmoplantar keratoderma, Conjunctivitis, Ichthyosis, Sparse hair, Fragil...	OMIM:242150
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Hearing impairment, Elbow dislocation, Limitation of joint mobili...	ORPHA:90650
Bethlem Myopathy	Lumbar hyperlordosis, Multiple joint contractures, Interphalangeal joint contracture of finger, A...	ORPHA:610
Verheij Syndrome	Joint laxity, Vertebral fusion, Small for gestational age, Optic nerve hypoplasia, Short neck, He...	OMIM:615583
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, Scoliosis, Butter...	ORPHA:313892
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae	OMIM:122600
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection...	ORPHA:98813
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Alopecia, Abnormal dental enamel morphology, Joint stiffness, ...	ORPHA:1005
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Short neck, Flexion contracture, Low posterior hairline, Low-set ears, W...	OMIM:616549
Darier-White Disease	Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments	OMIM:124200
Incontinentia Pigmenti	Ridged nail, Uveitis, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alopecia, Alopecia, Macu...	OMIM:308300
Diaphanospondylodysostosis	Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ...	ORPHA:66637
Naxos Disease	Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse...	OMIM:601214
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis	OMIM:609638
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Erythroderma, Fine hair, Hyperkeratosis, Fragile nails, Keratoconjun...	OMIM:601675
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Abs...	OMIM:148210
Aarskog-Scott Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Genu recurvatum, Camptodactyly of finger, Sho...	ORPHA:915
Omenn Syndrome	Alopecia, Pneumonia, Eosinophilia, Pruritus, Thickened skin, Thyroiditis, Erythroderma, Dry skin,...	ORPHA:39041
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Reduced bone mineral density, Protruding ear, Abnormal bone ossification, Small earlo...	ORPHA:93315
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Alopecia, Psoriasiform lesion, Recurrent viral infections, Recurrent upper respi...	ORPHA:169154
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Palmoplantar kera...	ORPHA:659
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Genu recurvatum, Reduced bone mineral density, Hyperkeratosis, Scoliosis, Hypo...	ORPHA:2611
Noonan Syndrome 8	Curly hair, Eczema, Hyperkeratosis, Webbed neck, Palmoplantar cutis laxa	OMIM:615355
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis, EEG abnormality	ORPHA:1445
Kniest Dysplasia	Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De...	ORPHA:485
Limb-Mammary Syndrome	Alopecia, Absent nipple, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr...	ORPHA:69085
Pachyonychia Congenita 2	Subungual hyperkeratosis, Dry hair, Sparse scalp hair, Angular cheilitis, Sparse eyebrow, Palmopl...	OMIM:167210
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Alopecia, Absent eyebrow, Perianal erythema, S...	OMIM:308205
Poikiloderma With Neutropenia	Joint laxity, Plantar hyperkeratosis, Elevated circulating creatine kinase concentration, Joint s...	OMIM:604173
Oliver-Mcfarlane Syndrome	Sparse hair, Alopecia, Long eyelashes, Long eyebrows	OMIM:275400
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia, Ichthyosis	OMIM:242510
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Psoriasiform dermatitis, Low posterior hairline, Arthritis, Chronic oral candidiasis, Recurrent a...	ORPHA:221139
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Joint laxity, Spinal rigidity, Scoliosis, Follicular hyperkeratosis, Joint contracture, Dry skin	OMIM:617066
Griscelli Syndrome, Type 2	Silver-gray hair, Recurrent bacterial infections, Melanin pigment aggregation in hair shafts	OMIM:607624
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Allergic rhinitis, Pruritus, Erythrod...	ORPHA:330064
Rhizomelic Chondrodysplasia Punctata	Alopecia, Dry skin, Sparse body hair, Ichthyosis	ORPHA:177
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of hai...	ORPHA:96169
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid...	ORPHA:319552
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecz...	ORPHA:83617
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair	ORPHA:2985
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Agammaglobulinemia 3, Autosomal Recessive	Recurrent bacterial infections, Recurrent otitis media, Recurrent lower respiratory tract infecti...	OMIM:613501
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Myoectodermal Gonadal Dysgenesis Syndrome	Omphalocele, Small for gestational age, Posteriorly rotated ears, Highly arched eyebrow, Sparse e...	OMIM:618419
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerato...	OMIM:158310
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Keratoconjunctivitis sicca...	ORPHA:1806
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis	ORPHA:1436
Spinocerebellar Ataxia Type 42	Psoriasiform dermatitis	ORPHA:458803
Nicolaides-Baraitser Syndrome	Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Excessive wrinkl...	ORPHA:3051
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:312150
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection...	ORPHA:275
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Infantile Systemic Hyalinosis	Osteopenia, Osteomalacia, Recurrent fractures, Short neck, Camptodactyly of finger, Thickened ski...	ORPHA:2176
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d...	OMIM:615726
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Autoinflammation With Arthritis And Dyskeratosis	Epidermal acanthosis, Hypereosinophilia, Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Kerat...	OMIM:617388
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pustule, Pruritus, Ulcerative ...	ORPHA:555905
Riddle Syndrome	Elevated circulating alpha-fetoprotein concentration, Recurrent viral infections, Erythema, Recur...	ORPHA:420741
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Membranoproliferative glomerulonep...	OMIM:137940
Milroy Disease	Hyperkeratosis, Erysipelas, Toenail dysplasia	ORPHA:79452
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Erysipelas	OMIM:615704
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Punctate Palmoplantar Keratoderma Type 1	Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis...	ORPHA:79501
Lateral Meningocele Syndrome	Vertebral fusion, Inguinal hernia, Posteriorly rotated ears, Short neck, Abnormality of the middl...	OMIM:130720
Intermediate Uveitis	Anterior uveitis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Optic neuritis	ORPHA:279914
Koolen-De Vries Syndrome	Vertebral fusion, Prominent metopic ridge, Sacral dimple, Fair hair, Failure to thrive, Small for...	OMIM:610443
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alopecia, Ectopic o...	OMIM:135100
De Sanctis-Cacchione Syndrome	Keratitis, Parakeratosis, Conjunctivitis	OMIM:278800
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis	OMIM:309620
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Elevated circulating C-reactive prot...	OMIM:116920
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Interface hepatitis, Psoriasiform dermatitis, Enterocolitis	OMIM:243150
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Seborrheic dermatitis	ORPHA:276280
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:253290
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Acantholysis	ORPHA:704
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Gorlin Syndrome	Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis	ORPHA:377
Congenital Disorder Of Glycosylation, Type Iil	Failure to thrive, Elevated circulating creatine kinase concentration, Optic atrophy, Hypohidrosi...	OMIM:614576
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Recurrent candida...	ORPHA:572
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Immunodeficiency 35	Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections...	OMIM:611521
Systemic Lupus Erythematosus 17	Alopecia, Malar rash, Optic neuritis, Myelitis	OMIM:301080
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Alopecia, Long eyelashes	ORPHA:3363
Frontometaphyseal Dysplasia 1	Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist...	OMIM:305620
Proteasome-Associated Autoinflammatory Syndrome 2	Lipodystrophy, Elevated circulating C-reactive protein concentration, Recurrent viral infections,...	OMIM:618048
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis	OMIM:613779
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Psoriasiform lesion, Recurrent pneumonia, Sepsis, Recurrent inf...	OMIM:614700
Sialidosis Type 1	Decreased nerve conduction velocity, Kyphosis, Delayed skeletal maturation, Sensorineural hearing...	ORPHA:812
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Pruritus, Gastrointestinal inflammation, Anonychia, Palmoplantar ...	ORPHA:79410
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hemivertebra...	OMIM:613686
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Rapp-Hodgkin Syndrome	Decreased number of sweat glands, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Spar...	OMIM:129400
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections	OMIM:608957
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Invasive f...	ORPHA:83471
Costello Syndrome	Low-set, posteriorly rotated ears, Failure to thrive in infancy, Redundant skin, Abnormal dental ...	ORPHA:3071
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Multiple joint contractures, Camptodactyly of finger, Short ...	ORPHA:1662
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infecti...	ORPHA:486
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Osteomyelitis, Recurrent infection of the gastrointestinal tract,...	OMIM:608184
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Long eyelashes, Epidermal acanthosis, Recurrent pneumonia	OMIM:616069
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Immunodeficiency 110 With Lymphoproliferation	Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se...	OMIM:614868
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Overweight, Cervical C2/C3 vertebral fusion, Moderate hearing impairment, Recurrent otitis media	ORPHA:370010
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ...	OMIM:613500
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Skin rash, Osteomyelitis, Recurrent p...	ORPHA:47
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Inguinal hernia, Mixed hearing impairment, Block vertebrae, Tarsal synostosis, ...	OMIM:272460
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Short neck, Large for gestational age, Synophrys, Hemive...	OMIM:213980
Igg4-Related Retroperitoneal Fibrosis	Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Membranous nephropathy...	ORPHA:49041
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre...	OMIM:605258
Immunodeficiency 27B	Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio...	OMIM:615978
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormal eyelash morphology, Thickened skin, Abnormal hair morphology, Skin ulcer, ...	ORPHA:2526
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Lipoatrophy, Recurrent fractures, Hyperextensibility of the knee, Thickened sk...	OMIM:601812
Donohue Syndrome	Adipose tissue loss, Delayed skeletal maturation, Recurrent infections, Hyperkeratosis, Severe fa...	OMIM:246200
Werner Syndrome	Sparse scalp hair, Increased bone mineral density, Lipodystrophy, Lipoatrophy, Joint stiffness, A...	ORPHA:902
Omenn Syndrome	Alopecia, Recurrent viral infections, Thickened skin, Recurrent bacterial infections, Recurrent f...	OMIM:603554
Bare Lymphocyte Syndrome, Type Ii	Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R...	OMIM:209920
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Synophrys, Multiple joint dislocation, Flexion contractu...	OMIM:619503
Cardiofaciocutaneous Syndrome	Brittle hair, Redundant skin, Short neck, Sparse hair, Thickened helices, Dystrophic fingernails,...	ORPHA:1340
Larsen Syndrome	Joint laxity, Vertebral fusion, Cervical kyphosis, Short nail, Elbow dislocation, Conductive hear...	OMIM:150250
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Recurre...	OMIM:613493
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Bronchiectasis, Hyperkeratosis, Colitis, Frontal upsweep of hair, Broad eyebrow	OMIM:301220
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Ichthyosis	OMIM:215100
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Cheilitis, Ski...	ORPHA:37
Restrictive Dermopathy 1	Limb joint contracture, Sparse eyelashes, Kyphoscoliosis, Epidermal hyperkeratosis, Absent eyelas...	OMIM:275210
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Skin rash, Supernumerary nipple, Eosinophilia, Abnormal...	ORPHA:464
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism	ORPHA:79431
Fibrodysplasia Ossificans Progressiva	Alopecia	ORPHA:337
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Dystrophic toenail, Nail...	ORPHA:3253
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Delayed skeletal maturation, Recurrent bacterial infe...	OMIM:244460
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn...	OMIM:265000
Immunodeficiency, Common Variable, 2	Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,...	OMIM:240500
Zinc Deficiency, Transient Neonatal	Alopecia, Eczema	OMIM:608118
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Os odontoideum, Optic disc pallor, Abnormal auditory evoked potentials, Delayed skeletal maturati...	OMIM:619260
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar hyperlordosis, Small for gestational age, Asymmetry of the ears, Overweight, Synophrys, Se...	OMIM:617796
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Skin ulcer, Fine hair, ...	ORPHA:978
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:28378
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Low-set ears	ORPHA:2522
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Abnormal dental enamel morphology, Kyphoscoliosis, Trichiasis, Dry skin, Hypohidr...	OMIM:601701
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Immunodeficiency 12	Recurrent viral infections, Delayed skeletal maturation, Osteoporosis, Recurrent bacterial infect...	OMIM:615468
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Otopalatodigital Syndrome Type 2	Omphalocele, Increased bone mineral density, Failure to thrive, Abnormal pinna morphology, Tarsal...	ORPHA:90652
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder dislocation, Microt...	OMIM:171480
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Conductive hearing impairment, Recurrent bacterial infections, Sensorineural hearing impairment	OMIM:610738
Reactive Arthritis	Pericarditis, Osteomyelitis, Pustule, Enthesitis, Hyperkeratosis, Inflammation of the large intes...	ORPHA:29207
Meige Disease	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Recurrent skin infections, ...	ORPHA:90186
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Recurrent bacterial infections, Nail dystroph...	OMIM:615895
Shashi-Pena Syndrome	Posteriorly rotated ears, Highly arched eyebrow, Accelerated skeletal maturation, Kyphosis, Synop...	OMIM:617190
Fucosidosis	Lipoatrophy, Kyphosis, Hyperhidrosis, Anterior beaking of lumbar vertebrae, Failure to thrive, Ge...	ORPHA:349
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle symphalangism of 5th finger, Fused...	OMIM:184460
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ...	ORPHA:52368
Leukocyte Adhesion Deficiency, Type Iii	Recurrent bacterial infections, Sepsis, Osteopetrosis, Petechiae	OMIM:612840
Immunodeficiency 23	Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in...	OMIM:615816
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo...	ORPHA:158687
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Short neck, Fused cervical vertebrae, Pallor, Decreased body weight, Cond...	OMIM:609053
Lamb-Shaffer Syndrome	Fused cervical vertebrae, Optic atrophy, Thoracic kyphosis, Scoliosis	ORPHA:530983
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Recurrent herpes, Severe recurrent varicella, Recurrent oppo...	ORPHA:276
Pemphigus Erythematosus	Malar rash, Acantholysis	ORPHA:79480
Selective Igm Deficiency	Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infecti...	ORPHA:331235
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia	OMIM:613502
Acute Bilirubin Encephalopathy	Neonatal sepsis, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbum...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Neonatal sepsis, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbum...	ORPHA:529808
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Hypouricemia, Increased circulating guanosine concentration, ...	OMIM:613179
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec...	ORPHA:2930
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Recurrent bacterial infections, Purpura	OMIM:613496
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Kbg Syndrome	Vertebral fusion, Posteriorly rotated ears, Short neck, Delayed skeletal maturation, Synophrys, L...	OMIM:148050
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Vestibular areflexia, Osteopetrosis, Absent brainst...	ORPHA:3240
Specific Granule Deficiency 1	Recurrent bacterial infections	OMIM:245480
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Low-set ears, Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly	OMIM:617333
Mixed Connective Tissue Disease	Alopecia, Myositis, Skin rash, Pericarditis, Gastritis, Myocarditis, Arthritis, Keratoconjunctivi...	ORPHA:809
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Hearing impairment, Cupped ear, Reduced bone mineral density, Recurre...	OMIM:617052
Lymphatic Malformation 12	Hyperkeratosis	OMIM:620014
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, T...	OMIM:607823
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Short neck, Hyperhidrosis, Sparse hair, Abse...	OMIM:115150
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections, High-frequency hearing impairment	OMIM:300455
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Radial club hand, Hyperkalemia, Sepsis, Recurre...	OMIM:617053
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Joint contracture, Failure to thrive, Optic atrophy	OMIM:616881
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Posteriorly rotated ears, Patchy osteosclerosis, Delayed skeletal maturation, Recurrent bacterial...	OMIM:241410
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio...	ORPHA:911
Myhre Syndrome	Vertebral fusion, Small for gestational age, Short neck, Joint stiffness, Thickened skin, Limitat...	OMIM:139210
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections	OMIM:193670
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Woodhouse-Sakati Syndrome	Osteopenia, Alopecia, Delayed skeletal maturation, Hyperlipidemia, Protruding ear, Scaling skin, ...	ORPHA:3464
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis	OMIM:612692
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Low posterior hairline, Fused cervical vertebrae, Low-set ears, Webbed neck, Spina bifida occulta...	OMIM:619227
Combined Immunodeficiency Due To Crac Channel Dysfunction	Anhidrosis, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bac...	ORPHA:169090
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections	OMIM:608106
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Warty Dyskeratoma	Abnormal fingernail morphology, Acrokeratosis, Epidermal thickening, Acantholysis	ORPHA:69745
Holocarboxylase Synthetase Deficiency	Alopecia, Keratoconjunctivitis, Eczema, Perioral eczema	ORPHA:79242
Immunodeficiency 33	Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc...	OMIM:300636
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Anhidrosis, Dry hair, Failure to thrive, Small for gestation...	OMIM:133540
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eczema, Eosinophilia, Hepatitis, Arthritis, Erythroderma	OMIM:304790
Parkes Weber Syndrome	Back pain, Skin ulcer, Abnormal B-type natriuretic peptide concentration, Scaling skin, Lower lim...	ORPHA:90307
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Recurrent viral infections, Recurrent pneumonia, Recurrent ba...	OMIM:243700
Postinfectious Vasculitis	Abnormal circulating protein concentration, Palpable purpura, Elevated circulating C-reactive pro...	ORPHA:48435
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Joint laxity, Myelofibrosis, Curly hair, Sparse scalp hair, Inguinal hernia, Posteriorly rotated ...	OMIM:607721
Duane Retraction Syndrome	Patchy hypopigmentation of hair, Narrow internal auditory canal, Short neck, External ear malform...	ORPHA:233
Macs Syndrome	Alopecia, Redundant skin, Sparse eyebrow, Bronchiectasis, Cutis laxa, Recurrent aphthous stomatit...	OMIM:613075
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Foot joint contracture, Scarring, Macrotia, Optic atrophy, H...	ORPHA:90321
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernu...	OMIM:271520
Immunodeficiency, Common Variable, 1	Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,...	OMIM:607594
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
Caudal Regression Syndrome	Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Scoliosis, Abnor...	ORPHA:3027
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Hyperkeratosis with erythema, Coarse hair	OMIM:118650
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Pneumonia, Nail dystrophy, Atrichia	ORPHA:1867
Chanarin-Dorfman Syndrome	Alopecia, Congenital nonbullous ichthyosiform erythroderma	OMIM:275630
Frontometaphyseal Dysplasia	Limitation of movement at ankles, Mixed hearing impairment, Interphalangeal joint contracture of ...	ORPHA:1826
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Cutis laxa	OMIM:309400
Robinow Syndrome, Autosomal Recessive 1	Joint laxity, Vertebral fusion, Inguinal hernia, Hypoplastic sacrum, Posteriorly rotated ears, Th...	OMIM:268310
Mosaic Trisomy 20	Vertebral fusion, Hearing impairment, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, ...	ORPHA:1724
Arnold-Chiari Malformation Type I	Stiff neck, Cranial nerve compression, Abnormality of the twelfth cranial nerve, Abnormality of t...	ORPHA:268882
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Sclerodactyly	OMIM:610644
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormal hair whorl, Reduced bone mineral density, Premature graying of h...	ORPHA:79474
Chromosome 8Q22.1 Duplication Syndrome	Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo...	OMIM:151200
Immunodeficiency 10	Amelogenesis imperfecta, Recurrent bacterial infections, Recurrent infections, Hypohidrosis	OMIM:612783
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Inguinal hernia, Protrus...	OMIM:225400
Xeroderma Pigmentosum	Craniofacial hyperostosis, Alopecia, Failure to thrive, Thickened skin, Delayed skeletal maturati...	ORPHA:910
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Palmoplantar keratode...	OMIM:106260
Bresek Syndrome	Alopecia, Ichthyosis	ORPHA:85284
Gaucher Disease, Perinatal Lethal	Hyperkeratosis, Microtia, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Low-set e...	OMIM:608013
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia, Arthritis, Membranous nephropathy, Recurrent sinusitis, Recurrent otitis media	OMIM:615559
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Recurrent viral infections	ORPHA:169079
Pgm3-Cdg	Recurrent respiratory infections, Mild neurosensory hearing impairment, Osteomyelitis, Recurrent ...	ORPHA:443811
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Shwachman-Diamond Syndrome	Osteopenia, Osteomyelitis, Recurrent viral infections, Delayed skeletal maturation, Abnormal join...	ORPHA:811
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Acne, Hirsutism	OMIM:615830
Rothmund-Thomson Syndrome	Plantar hyperkeratosis, Porokeratosis, Sparse eyelashes, Alopecia totalis, Skin rash, Sparse eyeb...	ORPHA:2909
Mandibuloacral Dysplasia	Alopecia, Sparse hair, Thin skin, Acanthosis nigricans, Hypoplastic fingernail	ORPHA:2457
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Anhidrosis, Dry hair, Failure to thrive, Ab...	OMIM:216400
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Thin eyebrow	ORPHA:3242
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening...	OMIM:610984
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op...	ORPHA:206436
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections	OMIM:606843
Adult-Onset Autosomal Dominant Leukodystrophy	Anhidrosis, Orthostatic hypotension, Recurrent urinary tract infections, Abnormal auditory evoked...	ORPHA:99027
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Sparse hair, Abnormal vertebral morphology, Absent eyebrow, Alopecia, Abnormal dental enamel morp...	ORPHA:2273
Flynn-Aird Syndrome	Alopecia, Skin ulcer	ORPHA:2047
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Pallor, ...	ORPHA:331206
Mannosidosis, Alpha B, Lysosomal	Inguinal hernia, Increased vertebral height, Macrotia, Sensorineural hearing impairment, Low ante...	OMIM:248500
Systemic Sclerosis	Alopecia, Pericarditis, Recurrent skin infections, Nail bed telangiectasia, Osteomyelitis, Glomer...	ORPHA:90291
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog...	ORPHA:1775
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Erythema, Palmoplantar keratoderma, Nail dystrophy, Onychogr...	ORPHA:79396
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Inguinal hernia, Posteriorly rotated ears, Widow's peak, Hyperextensible hand j...	OMIM:227330
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S...	OMIM:233710
Kindler Epidermolysis Bullosa	Recurrent skin infections, Erythema, Cheilitis, Hyperkeratosis, Inflammation of the large intesti...	ORPHA:2908
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Atrophic gastritis, Chronic active hepatitis, Iridocyclitis, Chronic mucocutaneous cand...	OMIM:240300
Wolf-Hirschhorn Syndrome	Vertebral fusion, Sacral dimple, Small for gestational age, Abnormal pinna morphology, Highly arc...	OMIM:194190
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology	ORPHA:398189
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per...	ORPHA:206443
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Psoriasiform dermatitis	ORPHA:2237
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Skin vesicle, Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Thakker-Donnai Syndrome	Posteriorly rotated ears, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Webbed neck...	ORPHA:1780
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Ankle clonus, Recurrent bacterial infections, Enteroviral encephalitis, Chronic oral cand...	OMIM:308230
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur...	ORPHA:2688
Aicardi Syndrome	Block vertebrae, Hiatus hernia, Optic disc coloboma, Optic atrophy, Protruding ear, Multiple lipo...	ORPHA:50
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Penetrating foot ulcers, Uveitis, Hyperkeratosis, Ac...	ORPHA:548
Immunodeficiency 47	Decreased circulating copper concentration, Sensorineural hearing impairment, Cutis laxa, Recurre...	OMIM:300972
Microphthalmia, Syndromic 3	Vertebral fusion, Optic nerve aplasia, Optic nerve hypoplasia, Sensorineural hearing impairment, ...	OMIM:206900
Simpson-Golabi-Behmel Syndrome	Omphalocele, Vertebral fusion, Inguinal hernia, Congenital hip dislocation, Low-set, posteriorly ...	ORPHA:373
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital hip dislocation, Synophrys, Knee dislocation, Shoulder dislocation, Conduc...	ORPHA:536545
Eec Syndrome	Slow-growing hair, Sparse eyebrow, Keratitis, Nail pits, Fine hair, Inflammatory abnormality of t...	ORPHA:1896
Frontometaphyseal Dysplasia 2	Hip contracture, Thick eyebrow, Congenital hip dislocation, Abnormal pinna morphology, Elbow cont...	OMIM:617137
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S...	OMIM:233690
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections, Webbed neck	OMIM:603585
Noonan Syndrome 10	Curly hair, Sparse eyebrow, Hyperkeratosis, Webbed neck, Palmoplantar cutis laxa	OMIM:616564
Aicardi Syndrome	Block vertebrae, Hiatus hernia, Optic disc coloboma, Hemivertebrae, Optic atrophy, Recurrent pneu...	OMIM:304050
Thrombocytopenia-Absent Radius Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the patella, Sensorineural hearing impai...	ORPHA:3320
Basal Cell Nevus Syndrome 1	Vertebral fusion, Kyphoscoliosis, Irregular ossification of hand bones, Hemivertebrae, Vertebral ...	OMIM:109400
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections	OMIM:616873
Pediatric Systemic Lupus Erythematosus	Alopecia, Myositis, Skin rash, Discoid lupus rash, Arthritis, Malar rash, Nephritis	ORPHA:93552
Trisomy 10P	Wide cranial sutures, Small for gestational age, Posteriorly rotated ears, Abnormal auditory evok...	ORPHA:171929
Monosomy 18P	Webbed neck, Alopecia, Low posterior hairline	ORPHA:1598
Chops Syndrome	Curly hair, Thick hair, Thickened helices, Synophrys, Optic atrophy, Obesity, Coarse hair, Long e...	OMIM:616368
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Sensorineural hearing impairment, Arthritis, Recurrent bacterial infections, M...	ORPHA:36412
Ramon Syndrome	Optic disc pallor, Hearing impairment, Kyphosis, Hyperkeratosis, Scoliosis, Decreased body weight...	OMIM:266270
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia	ORPHA:88630
Juvenile Dermatomyositis	Alopecia, Myositis, Skin rash, Pericarditis, Pruritus, Erythema, Skin ulcer, Arthritis, Dry skin	ORPHA:93672
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Small nail, Ichthyosis	ORPHA:166035
Agammaglobulinemia 9, Autosomal Recessive	Recurrent bacterial infections, Sensorineural hearing impairment, Failure to thrive	OMIM:619693
Sifrim-Hitz-Weiss Syndrome	Cupped ear, Flat acetabular roof, Fused cervical vertebrae, Low-set ears, Wormian bones, Hearing ...	OMIM:617159
Mend Syndrome	Sacral dimple, Abnormal auditory evoked potentials, Kyphosis, Elevated 8-dehydrocholesterol, Elev...	ORPHA:401973
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Hyperalaninemia, Hypertriglyceridemia, Hyper...	ORPHA:470
Kury-Isidor Syndrome	Recurrent otitis media, Alopecia, Hypertrichosis	OMIM:619762
Chédiak-Higashi Syndrome	Hyponatremia, Recurrent bacterial skin infections, Hypopigmentation of hair, Hypertriglyceridemia...	ORPHA:167
Koolen-De Vries Syndrome Due To A Point Mutation	Joint dislocation, Protruding ear, Interictal epileptiform activity, Joint laxity, Alopecia, Hype...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint dislocation, Protruding ear, Interictal epileptiform activity, Joint laxity, Alopecia, Hype...	ORPHA:363958
Alstrom Syndrome	Alopecia, Chronic active hepatitis, Recurrent pneumonia, Tubulointerstitial nephritis, Otitis med...	OMIM:203800
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Brittle hair, Nail dystrophy	ORPHA:75389
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology, Chronic mucocutaneous candidiasis	ORPHA:3453
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Biotinidase Deficiency	Alopecia, Recurrent skin infections, Skin rash, Seborrheic dermatitis, Conjunctivitis	OMIM:253260
Acro-Renal-Ocular Syndrome	Vertebral fusion, Aganglionic megacolon, Radial club hand, Sensorineural hearing impairment, Opti...	ORPHA:959
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Fragile nails, Small nail, Recurrent otitis media, Pili torti, Trichorrhexis nodosa, Sp...	OMIM:261990
Cardiospondylocarpofacial Syndrome	Joint laxity, Posteriorly rotated ears, Tarsal synostosis, Congenital diaphragmatic hernia, Condu...	OMIM:157800
Vici Syndrome	Recurrent respiratory infections, Hypopigmentation of hair, Elevated circulating creatine kinase ...	OMIM:242840
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail	OMIM:614219
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections	OMIM:202700
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, White eyelashes, White eyebrow, Aganglionic megacolon, Short...	OMIM:609136
Satoyoshi Syndrome	Alopecia, Alopecia universalis	OMIM:600705
Immunodeficiency 21	Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec...	OMIM:614172
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Inguinal hernia, Recurrent urinary tract infec...	OMIM:612541
Keutel Syndrome	Recurrent otitis media, Alopecia, Recurrent sinusitis	ORPHA:85202
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,...	ORPHA:101085
Warburg-Cinotti Syndrome	Hypoplasia of the ear cartilage, Posteriorly rotated ears, Ankle flexion contracture, Erythema, E...	OMIM:618175
Noonan Syndrome 2	Curly hair, Posteriorly rotated ears, Short neck, Cubitus valgus, Sparse eyebrow, Low posterior h...	OMIM:605275
Idiopathic Bronchiectasis	Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Cachexia	ORPHA:60033
Chime Syndrome	Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Ichthyosis, Sparse hair	ORPHA:3474
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Pilomatrixoma	OMIM:620189
Johnson Neuroectodermal Syndrome	Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes	ORPHA:2316
Apert Syndrome	Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Hearing impairment, Delayed ...	OMIM:101200
Immunodeficiency 7	Recurrent otitis media, Patchy alopecia, Hypereosinophilia, Chronic oral candidiasis	OMIM:615387
Leprechaunism	Facial hypertrichosis, Reduced subcutaneous adipose tissue, Thickened skin, Protruding ear, Hyper...	ORPHA:508
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Cervical hemivertebrae, Facial palsy, Optic nerve hypoplasia, Short neck, Hea...	ORPHA:508498
Robinow Syndrome	Fused thoracic vertebrae, Mixed hearing impairment, Small for gestational age, Posteriorly rotate...	ORPHA:97360
Cerebrotendinous Xanthomatosis	Osteopenia, Optic disc pallor, Abnormality of the vertebral spinous processes, Abnormal auditory ...	ORPHA:909
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hashimoto thyroiditis	ORPHA:3143
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Iridocyclitis, Alopecia, Pancreatitis	ORPHA:412057
Hermansky-Pudlak Syndrome 2	Posteriorly rotated ears, Albinism, Recurrent pneumonia, Recurrent bacterial infections, Recurren...	OMIM:608233
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, High-frequency sensorineural hearing impairment, Inguinal hernia, Mixed hearing impai...	OMIM:614557
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Erythema, Epididymitis, Arthritis, Patchy alopecia, Iritis	OMIM:109650
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Lack of skin elasticity, Breast aplasia,...	ORPHA:90153
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ...	OMIM:601495
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Cystic Fibrosis	Osteopenia, Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkhol...	ORPHA:586
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Short neck, Delayed epiphyseal ossification, Flexion contracture, Knee flexion contracture, Spars...	OMIM:210710
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
Relapsing Polychondritis	Episcleritis, Alopecia, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Erythema, Hepa...	ORPHA:728
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia	OMIM:612079
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Synophrys, Conductive hearing impairment, Acanthosis nigricans, Abnormal vertebral morphology, Lo...	ORPHA:444077
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, High anterior hairline	OMIM:615510
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Eczema, Dry skin, Abnormality of the nail	ORPHA:428
Glycogen Storage Disease Ib	Hyperlipidemia, Osteoporosis, Gout, Recurrent bacterial infections, Hyperuricemia	OMIM:232220
6Q Terminal Deletion Syndrome	Joint laxity, Low-set, posteriorly rotated ears, Prominent metopic ridge, Highly arched eyebrow, ...	ORPHA:75857
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Recurrent viral infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recurrent bac...	OMIM:102700
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Ichthyosis	OMIM:163200
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S...	OMIM:306400
Atelosteogenesis, Type I	Short neck, Thoracic platyspondyly, Elbow dislocation, Knee dislocation, Fused cervical vertebrae...	OMIM:108720
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Gomez-Lopez-Hernandez Syndrome	Alopecia	OMIM:601853
Duane-Radial Ray Syndrome	Aganglionic megacolon, Facial palsy, Sensorineural hearing impairment, Fused cervical vertebrae, ...	OMIM:607323
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin	OMIM:613990
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Nail dystrophy	OMIM:616353
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Thickened skin, Loss of eyelashes, Conjunctivitis, Scleroderma, Hypertr...	OMIM:263700
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Inguinal hernia, Posteriorly rotated ears, Short neck, Synophrys, Hip dislocation,...	OMIM:613458
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai...	OMIM:129900
Short Syndrome	Sparse hair, Excessive wrinkled skin, Alopecia	ORPHA:3163
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash	OMIM:253270
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Acne, Alopecia, Hirsutism, Striae distensae	ORPHA:189427
Apert Syndrome	Sensorineural hearing impairment, Optic atrophy, Cervical C5/C6 vertebrae fusion, Abnormal semici...	ORPHA:87
Hermansky-Pudlak Syndrome	Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Long eyelashes	ORPHA:79430
Celiac Disease, Susceptibility To, 1	Alopecia, Eczema, Thyroiditis, Recurrent aphthous stomatitis, Stomatitis	OMIM:212750
Mogs-Cdg	Absent brainstem auditory responses, Alopecia, Thoracic scoliosis, Sensorineural hearing impairme...	ORPHA:79330
Lymphatic Filariasis	Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis, Hypereosinophilia...	ORPHA:2035
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Rec...	OMIM:616005
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Hyperlipidemia, Osteoporosis, Gout, Increased susceptibility to...	ORPHA:79259
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Scleroderma, Premature ...	ORPHA:363618
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Congenital ichthyosiform erythroderma, Patchy alopecia, Congeni...	OMIM:302960
Kanzaki Disease	Hyperkeratosis, Dry skin, Petechiae	OMIM:609242
Insulin-Resistance Syndrome Type B	Alopecia, Skin rash, Pneumonia, Osteoarthritis, Acanthosis nigricans, Nephritis, Hirsutism	ORPHA:2298
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela...	ORPHA:544488
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Facial erythema, Sparse or absent eyelas...	ORPHA:221008
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple	ORPHA:3224
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai...	OMIM:604292
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Erythema, Facial erythema, Sparse or abs...	ORPHA:221016
Fabry Disease	Hyperlipidemia, Sensorineural hearing impairment, Optic atrophy, Hypohidrosis, Reduced bone miner...	ORPHA:324
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Hyperlordosis, Abnormality of hair texture, Thickened skin, Synophrys, ...	ORPHA:73223
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive protein concentr...	OMIM:619573
Hereditary Sensory And Autonomic Neuropathy Type 4	Anhidrosis, Fasciitis, Osteomyelitis, Neuropathic arthropathy, Corneal scarring, Hyperhidrosis, P...	ORPHA:642
Localized Scleroderma	Abnormal skin adnexa morphology, Fasciitis, Thickened skin, Erythema, Uveitis, Arthritis, Patchy ...	ORPHA:90289
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Premature graying of hair, Interstitial pneumonitis, Nail dystr...	OMIM:127550
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail	ORPHA:974
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ...	ORPHA:555874
Hemochromatosis, Type 1	Alopecia	OMIM:235200
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Seborrheic dermatitis	OMIM:210210
Giant Cell Arteritis	Arthritis, Alopecia, Pericarditis, Skin ulcer	ORPHA:397
Biotinidase Deficiency	Conjunctivitis, Alopecia, Eczematoid dermatitis, Skin rash	ORPHA:79241
Bartsocas-Papas Syndrome	Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Gapo Syndrome	Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, ...	OMIM:230740
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal hair morphology, Alopecia, Nail dystrophy, Thin skin	ORPHA:90154
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Nail dystrophy, Nail dysplasia	OMIM:175500
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Low-set ears, Fa...	OMIM:306955
Leigh Syndrome	Alopecia, Frontal hirsutism, Eczema, Hypertrichosis	ORPHA:506
Gapo Syndrome	Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes	ORPHA:2067
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis	OMIM:269200
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair	OMIM:608612
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology	ORPHA:1647
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Conjunctivitis, Nail dystrophy, Nail dysplasia	OMIM:226600
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Congenital nonbullous ichthyosiform erythroderma	ORPHA:98907
Autoimmune Polyendocrinopathy Type 4	Alopecia, Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulo...	ORPHA:227990
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Acne, Hirsutism	ORPHA:90795
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Dry skin	OMIM:614008
Chronic Graft Versus Host Disease	Alopecia, Fasciitis, Thickened skin, Urinary bladder inflammation, Erythema, Bronchiectasis, Skin...	ORPHA:99921
Adrenoleukodystrophy	Alopecia	OMIM:300100
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Recurrent mycobacterial infections, Recurrent otitis media, C...	ORPHA:244
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis	ORPHA:79280
Autoimmune Polyendocrinopathy Type 3	Alopecia, Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulo...	ORPHA:227982
Mandibuloacral Dysplasia With Type A Lipodystrophy	Acanthosis nigricans, Sparse scalp hair, Alopecia, Onychogryposis	OMIM:248370
Chediak-Higashi Syndrome	Recurrent bacterial skin infections, Hypopigmentation of hair, Recurrent systemic pyogenic infect...	OMIM:214500
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:268400
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis	ORPHA:3130
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Recurrent bacterial infections, Aplasia of the eccrine sweat gl...	OMIM:300291
Cowden Syndrome	Kyphosis, Bone cyst, Palmoplantar keratoderma, Scoliosis, Lipoma, Failure to thrive, Generalized ...	ORPHA:201
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia, Redundant skin, Keratoconjunctivitis sicca, Periodontitis, Webbed neck	ORPHA:536532
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Low posterior hairline	ORPHA:2959
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Uveitis, Sparse hair, Sp...	ORPHA:2108
Systemic Lupus Erythematosus	Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Malar rash, Serositis	ORPHA:536
Immunodeficiency 67	Recurrent streptococcal infections, Recurrent staphylococcal infections	OMIM:607676
Johanson-Blizzard Syndrome	Alopecia, Abnormal hair pattern	ORPHA:2315
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo...	ORPHA:2232
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
Focal Dermal Hypoplasia	Alopecia, Erythema, Abnormality of the nail, Thin skin	ORPHA:2092
Leukocyte Adhesion Deficiency	Recurrent urinary tract infections, Osteomyelitis, Recurrent staphylococcal infections, BCGosis, ...	ORPHA:2968
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Stapes ankylosis, Mixed hearing impairment, Failure to thrive in infancy...	ORPHA:51608
Proteus Syndrome	Abnormal dental enamel morphology, Craniosynostosis, Joint stiffness, Cachexia, Thickened skin, K...	ORPHA:744
Kikuchi-Fujimoto Disease	Alopecia, Skin rash, Pruritus, Pustule, Myocarditis, Erythema, Malar rash	ORPHA:50918
Polyendocrine-Polyneuropathy Syndrome	Alopecia	ORPHA:453533
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Anonychia, Small...	OMIM:263650
Ane Syndrome	Alopecia	ORPHA:157954
Primary Sclerosing Cholangitis	Osteopenia, Recurrent systemic pyogenic infections, Osteoporosis, Weight loss, Hypoalbuminemia	ORPHA:171
Thrombocytopenia-Absent Radius Syndrome	Patellar aplasia, Hip dislocation, Fused cervical vertebrae, Patellar dislocation, Carpal synosto...	OMIM:274000
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia	ORPHA:93160
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Coarse hair, Sparse hair, Dry skin, Chronic otitis media	ORPHA:2750
Whim Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in...	ORPHA:51636
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Nail dystrophy	OMIM:620040
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis	OMIM:277440
Trichotillomania	Alopecia	OMIM:613229
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Recurrent skin infections, Pneumonia, Paronychia, Gastrointestinal inflammation, Pyoder...	ORPHA:79404
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Thickened skin, Fine hair, Pyelonephritis, Patchy alopec...	OMIM:181270
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Pneumonia, Absent eyelashes, Spars...	OMIM:264090
Pseudoxanthoma Elasticum	Civatte bodies, Cutis laxa	OMIM:264800
Encephalocraniocutaneous Lipomatosis	Alopecia	OMIM:613001
Colchicine Poisoning	Myocarditis, Alopecia	ORPHA:31824
Sympathetic Ophthalmia	Alopecia, Erythema, Posterior uveitis, Poliosis	ORPHA:79098
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Alopecia, Long eyelashes, Fingernail dysplasia	ORPHA:1507
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Premature graying of hai...	OMIM:305000
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair	OMIM:311200
Bloom Syndrome	Skin rash, Sparse eyelashes, Pneumonia, Paronychia, Cheilitis, Uveitis, Patchy alopecia, Rhinitis...	ORPHA:125
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis	OMIM:618775
Elsahy-Waters Syndrome	Posteriorly rotated ears, Synophrys, Increased cup-to-disc ratio, Low-set ears, Cervical C2/C3 ve...	OMIM:211380
Craniofacial Microsomia 1	Block vertebrae, Underdeveloped tragus, Sensorineural hearing impairment, Hemivertebrae, Genu val...	OMIM:164210
Autosomal Dominant Robinow Syndrome	Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Ridged fingernail, Onychogryposi...	ORPHA:3107
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis, Low posterior hairli...	ORPHA:99413
Mosaic Monosomy X	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis, Low posterior hairli...	ORPHA:99228
Monosomy X	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis, Low posterior hairli...	ORPHA:99226
Turner Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis, Low posterior hairli...	ORPHA:881
Sarcoidosis	Alopecia, Maculopapular exanthema, Eosinophilia, Erythema nodosum, Bronchiectasis, Uveitis, Tubul...	ORPHA:797
Sickle Cell Disease	Recurrent bacterial infections	OMIM:603903
Linear Nevus Sebaceus Syndrome	Alopecia	ORPHA:2612
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia	ORPHA:2396
African Trypanosomiasis	Alopecia, Pericarditis, Pruritus, Myocarditis, Keratitis, Optic neuritis, Conjunctivitis, Iritis,...	ORPHA:3385
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Viss Syndrome	Sparse scalp hair, Alopecia, Chronic gastritis, Eczema, Hypereosinophilia, Atopic dermatitis, Cut...	OMIM:619472
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Alopecia totalis, Osteoarthritis, Loss of eyelashes, Lack of skin elasticity, Pat...	ORPHA:740
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow	ORPHA:2636
Steinert Myotonic Dystrophy	Early balding, Alopecia	ORPHA:273
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Vascular Ehlers-Danlos Syndrome	Alopecia, Redundant skin, Abnormality of hair texture, Abnormal eyelash morphology, Osteoarthriti...	ORPHA:286
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Small nail	OMIM:100300
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia	OMIM:619321
Ring Chromosome 13 Syndrome	Alopecia	ORPHA:96176
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter...	OMIM:601803

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Skin - hyperplasia	Lrig1^{tm1a(EUCOMM)Wtsi}	HOM		Early adult
Skin - MPATH diagnostic term acanthosis	Lrig1^{tm1a(EUCOMM)Wtsi}	HOM		Early adult

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 Lrig1.

There are 9 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Lrig1-expression confers suppressive function to CD4⁺ cells and is essential for averting autoimmunity via the Smad2/3/Foxp3 axis.	Nature communications (September 2023)	Lrig1^{tm1a(EUCOMM)Wtsi/N}	PMC10477202
Lrig1 expression identifies quiescent stem cells in the ventricular-subventricular zone from postnatal development to adulthood and limits their persistent hyperproliferation.	Neural development (January 2023)	Lrig1^{tm1a(EUCOMM)Wtsi}	PMC9832784
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Lrig1^{tm1a(EUCOMM)Wtsi}	PMC7263671
Lrig1 expression prospectively identifies stem cells in the ventricular-subventricular zone that are neurogenic throughout adult life.	Neural development (March 2020)	Lrig1^{tm1a(EUCOMM)Wtsi}	PMC7077007
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Lrig1^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Lrig1^{tm1a(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Lrig1^{tm1a(EUCOMM)Wtsi} Lrig1^{tm1a(EUCOMM)Wtsi}	PMC5827107
Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.	PLoS genetics (October 2014)	Lrig1^{tm1a(EUCOMM)Wtsi}	PMC4207618
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.	Nature communications (April 2014)	Lrig1^{tm1a(EUCOMM)Wtsi}	PMC3996542

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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
Lrig1^{tm42916(L1L2_gt2_Del_LacZ)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Lrig1^{tm42916(pL1L2_frt15_BetactinBSD_frt14_neo_Rox)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Lrig1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Lrig1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Lrig1 MGI:107935

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

Legacy Phenotype Associated Images

Human diseases caused by Lrig1 mutations

Histopathology

IMPC related publications

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