Gene Summary

Name:
leucine-rich repeats and immunoglobulin-like domains 1
Synonyms:
LIG-1,  Img

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total body fat amount Lrig1tm1a(EUCOMM)Wtsi HOM Early adult 2.75×10-06
abnormal skin pigmentation Lrig1tm1a(EUCOMM)Wtsi HOM   Early adult 5.29×10-05
abnormal skin condition Lrig1tm1a(EUCOMM)Wtsi HOM Early adult 4.22×10-10
abnormal tail morphology Lrig1tm1a(EUCOMM)Wtsi HOM Early adult 7.05×10-05
decreased body length Lrig1tm1a(EUCOMM)Wtsi HOM Early adult 6.33×10-06
decreased body weight Lrig1tm1a(EUCOMM)Wtsi HOM Early adult 3.64×10-06
increased heart weight Lrig1tm1a(EUCOMM)Wtsi HOM Early adult 8.11×10-08
abnormal behavior Lrig1tm1a(EUCOMM)Wtsi HOM Early adult 6.92×10-05

Download data as:  TSV  XLS

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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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood vessel 0.0%
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyer's patch 0.58% (1 of 171)
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
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

3 Images

Legacy Phenotype Associated Images

View all 50 images

View all 6 images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Palmoplantar keratoderma, Epidermal acanthosis OMIM:615735
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Fine hair, Allergic rhinitis, Alopecia of scalp, Pruritus, Parakeratosis, Slow... ORPHA:90368
Peeling Skin Syndrome 5
Epidermal acanthosis, Hyperkeratosis OMIM:617115
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Psoriasis 2
Psoriasiform dermatitis, Parakeratosis, Hyperkeratosis, Scaling skin, Epidermal acanthosis OMIM:602723
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Alopecia, Sparse scalp hair, Sparse pubic hair, Perifollicular hyperkeratosis, Sparse a... ORPHA:505
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis, Hyperkeratosis OMIM:615028
Keratoderma Hereditarium Mutilans With Ichthyosis
Nail dystrophy, Palmoplantar keratoderma, Alopecia, Generalized ichthyosis, Parakeratosis, Hyperg... ORPHA:79395
Ichthyosis, Congenital, Autosomal Recessive 14
Scaling skin, Orthokeratotic hyperkeratosis, Erythema, Hyperkeratosis OMIM:617571
Olmsted Syndrome 2
Cheilitis, Pruritus, Palmoplantar keratoderma, Parakeratosis, Woolly hair, Perioral hyperkeratosi... OMIM:619208
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Posterior bl... OMIM:300918
Acrokeratosis Verruciformis
Ridged nail, Acrokeratosis, Epidermal acanthosis, Hyperkeratosis OMIM:101900
Cole Disease
Epidermal acanthosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:615522
Bathing Suit Ichthyosis
Erythroderma, Thickened skin, Alopecia, Nail dystrophy, Parakeratosis, Congenital nonbullous icht... ORPHA:100976
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis ORPHA:464318
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Nail dystrophy, Alopecia, Parakeratosis, Nail dysplasia, Sparse hair, Palmoplantar ... OMIM:242300
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Hyperkeratotic papule, Pruritus, Perifolliculitis, Abnormal... ORPHA:79147
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis OMIM:615598
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis OMIM:146750
Infantile Digital Fibromatosis
Hyperkeratosis, Epidermal acanthosis, Parakeratosis ORPHA:199267
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Dry skin, Cutis laxa, Alopecia of scalp, Absent pubic hair, Sparse e... ORPHA:2269
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Dry skin, Erythema, Concave nail, Scaling skin, Nonepidermolytic palmoplantar ... ORPHA:530838
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperke... OMIM:148730
Peeling Skin Syndrome 4
Nail dystrophy, Palmoplantar keratoderma, Orthokeratosis, Hyperkeratosis, Scaling skin, Epidermal... OMIM:607936
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Linear arrays of macular hyperkeratoses in flexural areas, Nail dystrophy, Parakeratosis, Congeni... OMIM:601952
Ichthyosis, Congenital, Autosomal Recessive 6
Dry skin, Erythroderma, Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Congenit... OMIM:612281
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis ORPHA:737
Olmsted Syndrome 1
Subungual hyperkeratosis, Pruritus, Nail dystrophy, Palmoplantar keratoderma, Parakeratosis, Nail... OMIM:614594
Bazex Syndrome
Acanthosis nigricans, Pruritus, Nail dystrophy, Palmoplantar keratoderma, Yellow nails, Parakerat... ORPHA:166113
Epidermolytic Hyperkeratosis
Erythroderma, Scaling skin, Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkera... OMIM:113800
Porokeratosis Of Mibelli
Pruritus, Porokeratosis, Hyperkeratosis ORPHA:735
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Stria... ORPHA:64745
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Nail dystrophy, Palmoplantar keratoderma, Erythema, Parakeratosis, Woolly hair, Fragile... OMIM:615821
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Ichthyosis Hystrix Of Curth-Macklin
Nail dystrophy, Recurrent skin infections, Ichthyosis, Hyperkeratosis, Diffuse palmoplantar hyper... ORPHA:79503
Vulvovaginal Gingival Syndrome
Ridged nail, Pruritus, Erythema, Parakeratosis, Epidermal acanthosis ORPHA:83453
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:604777
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, R... OMIM:615508
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Palmoplantar keratoderma, Erythema, Hyperkeratosis OMIM:617525
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Palmoplantar keratoderma, Hyperkeratosis, Leukonychia, Scaling skin, Epidermal acanthosis OMIM:616295
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617574
Psoriasis 14, Pustular
Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Nail dystrophy, Erythema, Parakera... OMIM:614204
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Cholangitis, Sparse eyelashes, Alopecia, Parakeratosis, Orthokeratosis, Thick hair, Ichthyosis, D... OMIM:607626
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse and thin eyebrow, Palmoplantar keratoderma, Alopecia, Hypoplastic toenails, Abnormal finge... ORPHA:2722
White Sponge Nevus 2
Hyperparakeratosis, Epidermal acanthosis OMIM:615785
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Hyperkeratosis ORPHA:2297
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Anonychia With Flexural Pigmentation
Alopecia of scalp, Abnormal hair morphology, Follicular hyperkeratosis, Hyperkeratosis, Anonychia ORPHA:69125
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Congenital ichthyosiform erythroderma, Hyperkeratosis OMIM:270220
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Porokeratosis 3, Multiple Types
Nail dystrophy, Porokeratosis, Parakeratosis OMIM:175900
Hidrotic Ectodermal Dysplasia
Sparse eyelashes, Palmoplantar keratoderma, Sparse pubic hair, Sparse hair, Palmoplantar hyperker... ORPHA:189
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... ORPHA:284426
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Alopecia totalis, Sclerodactyly, Nail dysplasia, Facial erythema, Hyperkeratosis,... OMIM:212360
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Nail dystrophy, Hyperkeratosis OMIM:131850
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Erythema migrans, Skin vesicle, Parakeratosis ORPHA:158681
Pemphigus Foliaceus
Psoriasiform dermatitis, Erythroderma, Pustule, Acantholysis, Pruritus, Erythema, Scaling skin, C... ORPHA:79481
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Pa... ORPHA:87503
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Diffuse palmoplantar... OMIM:617294
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis OMIM:173200
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmar pruritus, Exce... ORPHA:498359
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Hypotrichosis 6
Sparse eyelashes, Pruritus, Brittle hair, Erythema, Follicular hyperkeratosis, Pili torti, Sparse... OMIM:607903
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Sparse hair, Palmoplantar hyperkeratosis, Dystrophic fingernails OMIM:604536
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus, Erythema, Morphea, Scaling skin, Scleroderma ORPHA:90158
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Orthokeratosis, Hypergranulosis, Parakeratosis OMIM:604117
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis, Generalized hyperkeratosis, Ep... OMIM:133200
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Oculotrichodysplasia
Sparse eyelashes, Dry skin, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, General... OMIM:257960
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Parana Hard Skin Syndrome
Thickened skin, Generalized hirsutism, Hyperkeratosis ORPHA:2812
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Acquired Ichthyosis
Pruritus, Palmoplantar keratoderma, Erythema, Recurrent skin infections, Ichthyosis, Hyperkeratos... ORPHA:454
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Congenital ichthyosiform erythroderma, Epidermal acanthosis OMIM:615023
Acral Peeling Skin Syndrome
Eczema, Erythema, Ichthyosis, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Hearing impairment OMIM:600501
Angioma Serpiginosum, X-Linked
Fine hair, Nail dystrophy, Sparse hair, Hyperkeratosis OMIM:300652
Netherton Syndrome
Allergic rhinitis, Erythroderma, Brittle hair, Sparse scalp hair, Parakeratosis, Congenital nonbu... OMIM:256500
Ichthyosis With Confetti
Hypertrichosis, Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:609165
Epidermolytic Palmoplantar Keratoderma
Epidermal hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Ab... ORPHA:2199
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Dystrophic toenail, Absent toenail, Pruritus, Ridged nail, Abnormal toenail morphology, Hyperkera... ORPHA:89838
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Atrophoderma Vermiculata
Hyperkeratotic papule, Pruritus, Erythema, Abnormal epidermal morphology, Follicular hyperkeratosis ORPHA:79100
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma, Palmoplantar keratoderma, Hypergranulosis, Ichthyosis, Epidermal acanthosis OMIM:615022
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa, Epidermal acanthosis ORPHA:79148
Pachyonychia Congenita 4
Nail dystrophy, Palmoplantar keratoderma, Hyperkeratosis OMIM:615728
Palmoplantar Keratoderma And Congenital Alopecia 1
Epidermal hyperkeratosis, Brittle hair, Palmoplantar keratoderma, Alopecia, Sparse eyebrow, Palmo... OMIM:104100
Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Thickened skin, Abnormal fingernail morphology, Arthritis, Uveitis, Skin... ORPHA:92
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... OMIM:613736
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyelashes, Erythroderma, Palmoplantar keratoderma, Scarring alopecia of scalp, Absent eyel... OMIM:602540
Palmoplantar Carcinoma, Multiple Self-Healing
Nail dystrophy, Palmoplantar keratoderma, Parakeratosis, Follicular hyperkeratosis, Epidermal aca... OMIM:615225
Classic Mycosis Fungoides
Eczema, Pruritus, Erythema, Alopecia, Skin rash, Abnormality of the nail, Hyperkeratosis, Dry ski... ORPHA:2584
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Peeling Skin Syndrome 1
Scaling skin, Brittle hair, Erythema, Abnormality of hair texture OMIM:270300
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia of scalp, Alopecia OMIM:260910
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Alopecia, Recurrent cutaneous ab... ORPHA:499
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Pili Torti-Onychodysplasia Syndrome
Eczema, Brittle hair, Palmoplantar keratoderma, Alopecia, Absent eyelashes, Absent eyebrow, Nail ... ORPHA:2890
Congenital Disorder Of Glycosylation, Type If
Dry skin, Scaling skin, Erythroderma, Hyperkeratosis OMIM:609180
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosif... ORPHA:312
Monilethrix
Brittle hair, Alopecia, Nail dystrophy, Abnormality of hair texture, Perifollicular hyperkeratosi... OMIM:158000
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Onycholysis, Yellow nails, Nail dystrophy, Palmoplantar keratoderm... OMIM:148700
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform e... OMIM:613943
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair, Follicular hyperkeratosis, Congenital nonbullous ichthyosiform ... OMIM:618546
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Abnormal hair morphology, Erythema, Alopecia, Skin rash, Gene... ORPHA:317
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Orthokeratosis, Epidermal acanthosis OMIM:148600
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Onycholysis, Onychomadesis, Arthritis, Nail pits OMIM:177900
Kid Syndrome
Trichilemmoma, Sparse eyelashes, Palmoplantar keratoderma, Acne inversa, Sparse hair, Conjunctivi... ORPHA:477
Ichthyosis Vulgaris
Dry skin, Eczematoid dermatitis, Ichthyosis, Absent keratohyalin granules OMIM:146700
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin, Cutis laxa OMIM:105250
Ichthyosis, Congenital, Autosomal Recessive 2
Small nail, Abnormal hair morphology, Thin nail, Palmoplantar keratoderma, Erythema, Alopecia, Hy... OMIM:242100
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Angular cheilitis, Follicular hyperkeratosis... OMIM:613102
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Nail dystrophy, Palmar hyperkeratosis, Hyperkeratosis, Plantar hyperkeratosis ORPHA:79399
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Malar rash, Skin rash... ORPHA:90280
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Erythroderma, Alopecia of scalp, Pruritus, Follicular hyperkeratosis, Generali... OMIM:608649
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Moynahan Syndrome
Alopecia, Sparse hair, Hyperkeratosis ORPHA:2574
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Acrokeratosis Verruciformis Of Hopf
Nail dystrophy, Hypergranulosis, Leukonychia, Hyperkeratosis, Punctate palmoplantar hyperkeratosi... ORPHA:79151
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Erythema, Pruritus OMIM:254400
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Ulerythema Ophryogenesis
Hyperkeratotic papule, Dry skin, Sparse lateral eyebrow, Acne, Follicular hyperkeratosis, Facial ... ORPHA:3406
Ectodermal Dysplasia/Short Stature Syndrome
Nail dystrophy, Epidermal acanthosis, Anonychia, Hyperkeratosis OMIM:616029
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp OMIM:610753
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections, Osteoporosis, Delayed skeletal matura... OMIM:615468
Mannose-Binding Lectin Deficiency
Recurrent herpes, Failure to thrive, Disseminated cryptosporidium infection, Recurrent meningococ... OMIM:614372
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Erythema, Scaling skin, Ichthyosis, Hyperkeratosis, Dry skin OMIM:614457
Monilethrix
Fine hair, Brittle hair, Abnormal eyebrow morphology, Follicular hyperkeratosis, Abnormality of t... ORPHA:573
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema, Alopecia OMIM:617443
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Alopecia Areata 1
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Folliculitis, Dystrophic fingernails, Palmoplantar keratoderma, Scarring alopec... OMIM:308800
Immunodeficiency 61
Recurrent bacterial infections, Recurrent otitis media, Arthritis, Obesity, Recurrent respiratory... OMIM:300310
Hypotrichosis 5
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair OMIM:612841
Rothmund-Thomson Syndrome, Type 1
Thin nail, Nail dystrophy, Recurrent otitis media, Absent eyelashes, Absent eyebrow, Hyperkeratos... OMIM:618625
Dermoodontodysplasia
Dry skin, Trichodysplasia, Thin skin OMIM:125640
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Patchy alopecia OMIM:247100
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Psoriasiform dermatitis, Blepharitis, Ichthyosis OMIM:616834
Lichen Planopilaris
Onycholysis, Pruritus, Hepatitis, Alopecia, Hyperkeratosis, Abnormal fingernail morphology, Skin ... ORPHA:525
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Nail dystrophy, Alopecia, Nail dysplasia, Palmar hyperkeratosis, Plantar h... ORPHA:79397
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... OMIM:277300
Lichen Planus Pemphigoides
Pruritus, Abnormality of the nail, Skin vesicle, Hyperkeratosis, Blepharitis, Conjunctivitis ORPHA:254478
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Pustule, Erythema, Scarring alopecia of scalp, Recurrent skin infection... ORPHA:346
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Circumungual hyperkeratosis, Palmoplantar keratoderma, Gingival hyperke... ORPHA:2200
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyelashes, Folliculitis, Nail dystrophy, Palmoplantar keratoderma, Alopecia, Scarring alop... OMIM:612843
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Elevated circulating creatine kinase concentration, Kyphoscoliosis, Atrophic scars, Hernia, Osteo... ORPHA:300179
Skin Fragility-Woolly Hair Syndrome
Sparse eyelashes, Acantholysis, Nail dystrophy, Palmoplantar keratosis with erythema and scale, A... OMIM:607655
Ectodermal Dysplasia-Syndactyly Syndrome 1
Small nail, Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Coarse hair, Pili torti, Absent ... OMIM:613573
Pityriasis Rubra Pilaris
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k... ORPHA:2897
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Rare Cutaneous Lupus Erythematosus
Maculopapular exanthema, Leukonychia, Onycholysis, Cheilitis, Discoid lupus rash, Erythema, Nail ... ORPHA:535
Keratoderma Hereditarium Mutilans
Alopecia, Abnormal toenail morphology, Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperke... ORPHA:494
Alopecia Universalis
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes ORPHA:701
Lamellar Ichthyosis
Erythroderma, Chronic otitis media, Pruritus, Lack of skin elasticity, Ichthyosis, Abnormality of... ORPHA:313
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Periodontitis, Congenital alopecia totalis, Alopecia universalis OMIM:104130
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lymphadenitis, Erythema, Alopecia, Scaling skin ORPHA:90156
Flynn-Aird Syndrome
Increased bone density with cystic changes, Alopecia of scalp, Kyphoscoliosis, Osteoporosis, Alop... OMIM:136300
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Congenital Non-Bullous Ichthyosiform Erythroderma
Erythroderma, Pruritus, Palmoplantar keratoderma, Alopecia, Keratitis, Ichthyosis, Abnormality of... ORPHA:79394
Neonatal Lupus Erythematosus
Parakeratosis, Malar rash, Maculopapular exanthema, Skin rash, Hyperkeratosis ORPHA:398124
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Curly hair, Pili torti, Hyperkeratosis, Sparse and thin eyebrow, Sparse hair, Bleph... OMIM:602400
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Sparse eyelashes, Absent hair, Ridged nail, Nail dystrophy, Palmoplantar keratoderma, Sparse eyeb... ORPHA:1010
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Erythroderma, Nail dystrophy, Alopecia, Absent eyebrow, Absent eyelashes, Keratitis, Follicular h... OMIM:308205
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Erythema ORPHA:703
Proteus Syndrome
Mandibular hyperostosis, Spinal canal stenosis, Epidermal acanthosis, Thin bony cortex, Kyphoscol... OMIM:176920
Neonatal Inflammatory Skin And Bowel Disease
Psoriasiform dermatitis, Chronic monilial nail infection, Pustule, Chapped lip, Erythema, Horizon... ORPHA:294023
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Anterior rib punctate calcifications, Epiphyseal stippling, Spinal deformities,... ORPHA:35173
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, Erythroderma, Chronic oral candidiasis, Thyroiditis, Scaling ski... OMIM:606367
Idiopathic Trachyonychia
Atopic dermatitis, Ridged nail, Circumungual hyperkeratosis, Thin nail, Nail dystrophy, Fingernai... ORPHA:79153
Darier Disease
Abnormal hair morphology, Pruritus, Subungual hyperkeratotic fragments, Palmoplantar keratoderma,... ORPHA:218
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, D... ORPHA:3361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Achilles tendon contracture... OMIM:606612
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis, Nail dystrophy OMIM:616106
Clouston Syndrome
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... OMIM:129500
Recessive X-Linked Ichthyosis
Dry skin, Ichthyosis, Hyperkeratosis ORPHA:461
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Nail dystrophy, Abnormal toenail morphology, Hyperkeratosis ORPHA:89843
Cutaneous Mastocytoma
Pruritus, Thickened skin, Erythema, Maculopapular exanthema, Scaling skin ORPHA:79455
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Aicardi-Goutieres Syndrome 5
Dry skin, Chilblains, Scaling skin OMIM:612952
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Fingernail dysplasia, Palmoplantar keratoderma, Alopecia, Ridged fi... ORPHA:2251
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Recurrent otitis media, Alopecia, Chronic mu... OMIM:618282
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Hypertrichosis, Cutis laxa, Ichthyosis, Hyperkeratosis OMIM:612379
Ullrich Congenital Muscular Dystrophy 1
Increased laxity of ankles, Failure to thrive, Slender build, Facial palsy, Mildly elevated creat... OMIM:254090
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Recurrent otitis media, Alopecia totalis, Recurrent pneumonia, Recurrent... OMIM:615577
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Pruritus, Acne, Arthritis, Palmopla... ORPHA:324964
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Pruritus, Cheilitis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkerat... ORPHA:158668
Neuropathy, Hereditary Sensory, Type If
Osteomyelitis, Hyperkeratosis OMIM:615632
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis ORPHA:3052
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
Trichodysplasia-Xeroderma
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Immunodeficiency 58
Eczema, Allergic rhinitis, Psoriasiform lesion, Recurrent cutaneous abscess formation, Seborrheic... OMIM:618131
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Hypergranulosis, Orthokeratosis, Palmoplantar hyperkeratosis, Epidermal ac... ORPHA:38
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Webbed neck, ... OMIM:244600
Hidrotic Ectodermal Dysplasia, Halal Type
Abnormal fingernail morphology, Absent eyebrow, Absent eyelashes, Follicular hyperkeratosis, Nail... ORPHA:1809
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal cranial nerve morphology, Abnormal vertebral segmen... ORPHA:2345
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Nail dystrophy, Acne inversa, Orthokeratosis, Hyperkeratosis, Hypoplastic sweat glands OMIM:617337
Ectodermal Dysplasia-Syndactyly Syndrome 2
Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis, Palmoplantar keratoderm... OMIM:613576
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Mildly elevated creatine kinase, Spinal rigidity, Follicular hyperkeratosis, Overweight... ORPHA:486815
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Brittle hair, Pili torti, Hyperkeratosis, Sparse scalp hair ORPHA:1573
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial ... OMIM:616022
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Palmoplantar keratoderma, Alopecia OMIM:618373
Chromomycosis
Hyperkeratotic papule, Keratoconjunctivitis sicca, Pruritus, Hyperparakeratosis, Keratitis, Hyper... ORPHA:182
Kbg Syndrome
Vertebral fusion, Webbed neck, Macrotia, Abnormal hair pattern, Bilateral conductive hearing impa... ORPHA:2332
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Failure to thrive, Recurrent otitis media, ... OMIM:613501
Ichthyosis, Congenital, Autosomal Recessive 3
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Erythema, Hyperkeratosis OMIM:606545
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Highly arched eyebrow, Omphalocele, Small for gestational age, Overfolded helix, Sparse eyebrow, ... OMIM:618419
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Webbed neck, Antecubital pterygium, Fused cervical vertebrae, Short neck, Flex... OMIM:618469
Familial Benign Chronic Pemphigus
Erythema, Acantholysis, Skin vesicle, Hyperkeratosis ORPHA:2841
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Odontoonychodermal Dysplasia
Fine hair, Anonychia, Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse body hair, Ery... OMIM:257980
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Meningitis, Recurrent respiratory infections, Recurrent pneumonia OMIM:613500
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Cerebellar Ataxia And Ectodermal Dysplasia
Alopecia, Sparse hair OMIM:212835
Basan Syndrome
Nail dystrophy, Palmoplantar keratoderma, Palmoplantar hypohidrosis, Flexion contracture of digit... OMIM:129200
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Failure to thrive in infancy, Epidermal acanthosis, Periostitis, Osteomyelitis, Fused cervical ve... OMIM:612852
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Periodontitis, Alopecia universalis, Abnormal eyelash morpho... ORPHA:1008
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Alopecia, Sparse hair OMIM:203600
Erythrokeratodermia Variabilis Et Progressiva 2
Palmoplantar keratoderma, Hypertrichosis, Erythema OMIM:617524
Parc Syndrome
Alopecia, Absent eyebrow, Absent eyelashes OMIM:600331
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Psoriasiform lesion, Onycholysis, Pruritus, Oligoarthritis, Sacroiliac a... ORPHA:85436
Porphyria Cutanea Tarda
Onycholysis, Alopecia, Facial hypertrichosis, Scleroderma OMIM:176100
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Facial palsy, Absent brainstem auditory responses, Sensorineural heari... OMIM:617519
Mpdu1-Cdg
Optic atrophy, Elevated circulating creatine kinase concentration, Hypsarrhythmia, Ichthyosis, Sc... ORPHA:79323
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Palmoplantar keratoderma, Lack of skin elasticity, Alopecia totalis ORPHA:1366
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Tarsal synostosis, Vertebral fusion, Hip contracture, Hemivertebrae, Craniosynostosis, Low-set, p... OMIM:178110
Multiple Synostoses Syndrome 2
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symphalangism, Carpal synosto... OMIM:610017
Wildervanck Syndrome
Hearing impairment, Webbed neck, Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Sjögren-Larsson Syndrome
Erythema, Inflammatory abnormality of the eye, Ichthyosis, Hyperkeratosis, Dry skin ORPHA:816
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Alopecia, Parakeratosis, Abnormality of the nail, Hyperkeratosis, Congenital ichthyosif... OMIM:308050
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Atopic dermatitis, Psoriasiform dermatitis, Cholangitis, Allergic rhinitis, Pneumonia, Bronchiect... ORPHA:183675
Graft Versus Host Disease
Failure to thrive, Fasciitis, Lipodystrophy, Recurrent infections, Arthritis, Hyperbilirubinemia,... ORPHA:39812
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Macrotia, Vertebral fusion OMIM:221950
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Acanthosis nigricans, Hirsutism, Simple ear, Failure to t... OMIM:617475
Bacterial Toxic-Shock Syndrome
Ecchymosis, Sepsis, Severe varicella zoster infection, Infectious encephalitis, Elevated circulat... ORPHA:36234
Ramon Syndrome
Conductive hearing impairment, Failure to thrive, Abnormal dental enamel morphology, Sensorineura... ORPHA:3019
Cardiofaciocutaneous Syndrome 3
Failure to thrive, Webbed neck, Reduced bone mineral density, Curly hair, Hyperhidrosis, Hyperker... OMIM:615279
Lipoid Proteinosis
Alopecia of scalp, Pustule, Thickened skin, Acne, Hyperkeratosis ORPHA:530
Transgrediens Et Progrediens Palmoplantar Keratoderma
Dystrophic fingernails, Dystrophic toenail, Thickened skin, Hyperconvex nail, Angular cheilitis, ... ORPHA:495
Pilodental Dysplasia With Refractive Errors
Brittle hair, Follicular hyperkeratosis, Brittle scalp hair, Abnormality of the nail, Sparse scal... OMIM:262020
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Eczema, Psoriasiform dermatitis, Tub... ORPHA:37042
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Schöpf-Schulz-Passarge Syndrome
Aplasia/Hypoplasia of the eyebrow, Palmoplantar keratoderma, Sparse hair, Alopecia ORPHA:50944
H Syndrome
Psoriasiform dermatitis, Hypertrichosis, Bronchiectasis, Chronic rhinitis, Alopecia, Abnormal eye... ORPHA:168569
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... OMIM:602032
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Pyoderma gangrenosum, Alopecia, Recurrent skin infections, Recurrent pneumonia, R... OMIM:616576
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Congenital alopecia totalis, Nail pits ORPHA:169095
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease OMIM:616100
Dowling-Degos Disease
Hyperkeratotic papule, Pruritus, Acne inversa, Arthritis, Hyperkeratosis, Abnormal fingernail mor... ORPHA:79145
Dermatitis, Atopic
Atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Recurrent skin infections, Ichthyosis, Fa... OMIM:603165
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Bronchiectasis, Nail dystrophy, Recurrent otitis media, Alopecia, Alopec... ORPHA:293978
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Palmoplantar keratoderma, Erythroderma, Congenital ichthyosiform erythroderma OMIM:615024
Prolidase Deficiency
Hirsutism, Low anterior hairline, Pruritus, Abnormal fingernail morphology, Palmoplantar keratode... ORPHA:742
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Block vertebrae, Spina bifi... OMIM:613686
Lymphatic Malformation 4
Toenail dysplasia, Hyperkeratosis OMIM:615907
Klippel-Feil Syndrome 1, Autosomal Dominant
Conductive hearing impairment, Abnormal vertebral segmentation and fusion, Webbed neck, Cervical ... OMIM:118100
Irida Syndrome
Pallor, Ichthyosis, Hyperkeratosis ORPHA:209981
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Achilles tendon contracture... OMIM:607155
Sézary Syndrome
Erythroderma, Pruritus, Nail dystrophy, Palmoplantar keratoderma, Alopecia, Dry skin ORPHA:3162
Huriez Syndrome
Nail dystrophy, Congenital palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:181600
Superficial Epidermolytic Ichthyosis
Acantholysis, Palmoplantar keratoderma, Erythema, Thin skin, Ichthyosis ORPHA:455
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Erythroderma, Ichthyosis OMIM:618840
Pachyonychia Congenita 2
Dry hair, Folliculitis, Subungual hyperkeratosis, Nail dystrophy, Sparse and thin eyebrow, Nail d... OMIM:167210
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Keratoconjunctivitis sicca, Eczema, Slow-growing hair, Breast aplasia, Generalized hyp... ORPHA:238468
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-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Pseudopelade Of Brocq
Abnormal hair morphology, Cheilitis, Alopecia, Recurrent skin infections, Abnormality of the nail... ORPHA:129
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Recurrent sinusitis OMIM:617765
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Porokeratosis
Pruritus, Hyperkeratosis ORPHA:79358
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Coarse hair, Sparse hair, Hyperkeratosis ORPHA:1883
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Cervical C2/C3 vertebral fusion, Abnormality of the pinna, Fused c... OMIM:214300
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Diffuse Cutaneous Mastocytosis
Scaling skin, Pruritus, Thickened skin, Erythroderma ORPHA:79456
Immunodeficiency 51
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... OMIM:613953
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Alopecia, Woolly scalp hair, Woolly hair OMIM:601217
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Leopard Syndrome 3
Epidermal hyperkeratosis, Webbed neck, Curly hair, Hyperkeratosis, Dry skin, Low posterior hairline OMIM:613707
Pachyonychia Congenita
Onychogryposis of fingernail, Fingernail dysplasia, Linear arrays of macular hyperkeratoses in fl... ORPHA:2309
Drug-Induced Localized Lipodystrophy
Absence of subcutaneous fat, Hyperpigmentation of the skin, Reduced subcutaneous adipose tissue, ... ORPHA:90157
L-Ferritin Deficiency
Alopecia OMIM:615604
Wildervanck Syndrome
Congenital sensorineural hearing impairment, Webbed neck, Facial palsy, Fused cervical vertebrae,... ORPHA:3456
Sapho Syndrome
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Arthritis... ORPHA:793
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis OMIM:167200
Rat-Bite Fever
Myocarditis, Pustule, Pericarditis, Endocarditis, Lymphadenitis, Oligoarthritis, Arthritis, Septi... ORPHA:31205
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Dry skin, Abnormal fi... ORPHA:248
Brachydactyly, Type B1
Vertebral fusion, Hemivertebrae, Joint contracture of the hand, Hypoplastic sacrum, Camptodactyly... OMIM:113000
Amelo-Onycho-Hypohidrotic Syndrome
Fine hair, Onycholysis, Hyperkeratosis, Hypoplastic toenails, Dry skin, Abnormal fingernail morph... ORPHA:1028
Hereditary Mucoepithelial Dysplasia
Fine hair, Alopecia, Sparse hair, Hyperkeratosis ORPHA:1839
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hip contracture, Joint contracture of the hand, Hearing impa... OMIM:193700
Chronic Mucocutaneous Candidiasis
Broad nail, Cheilitis, Pruritus, Erythema, Hepatitis, Abnormal toenail morphology, Skin rash, Abn... ORPHA:1334
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Alopecia of scalp, Thickened skin, Hepatitis, Nail dystrophy, Absent eye... ORPHA:436252
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent sinopulmonary infections, Recurrent fungal infections, Craniosynostosis, Erythema, Chro... OMIM:147060
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Hemivertebrae, Low posterior hairline, Abnormal form of the vertebral bodies, A... ORPHA:2916
Porphyria Cutanea Tarda
Increased serum iron, Hirsutism, Hypertrichosis, Elevated hepatic iron concentration, Scarring, C... ORPHA:101330
Harlequin Ichthyosis
Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis, Hyperkeratosis ORPHA:457
Mycetoma
Bone cyst, Abnormality of the knee, Recurrent fungal infections, Osteoporosis, Abnormal form of t... ORPHA:2583
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Alopecia-Intellectual Disability Syndrome
Alopecia, Ichthyosis, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:2850
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Interface hepatitis OMIM:243150
Lig4 Syndrome
Psoriasiform dermatitis OMIM:606593
Premature Aging Syndrome, Penttinen Type
Wormian bones, Osteopenia, Sensorineural hearing impairment, Lipoatrophy, Delayed skeletal matura... OMIM:601812
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Hearing impairment, Incre... ORPHA:90650
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:614868
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... OMIM:614929
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral segmentation defect, Vertebral fusion OMIM:618845
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Fine hair, Tiger tail banding, Small nail, Erythroderma, Brittle hair... OMIM:601675
Hereditary Sensory And Autonomic Neuropathy Type 1
Limb pain, Penetrating foot ulcers, Neuropathic arthropathy, Abnormality of the autonomic nervous... ORPHA:36386
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Bethlem Myopathy
Interphalangeal joint contracture of finger, Ankle flexion contracture, Elevated circulating crea... ORPHA:610
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Hyperkeratotic papule, Small nail, Pruritus, Nail dystrophy, Abnormal toenail morphology, Abnorma... ORPHA:79410
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Short neck, Scoliosis, Low back pain OMIM:122600
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Sparse hair, Abnormality of the elbow, Alopecia, Low-set, posteriorly rotated ears, Synostosis of... ORPHA:1005
Verheij Syndrome
Vertebral fusion, Hemivertebrae, Hip dislocation, Short neck, Scoliosis OMIM:615583
Darier-White Disease
Acantholysis, Ridged nail, Pruritus, Subungual hyperkeratotic fragments, Acrokeratosis OMIM:124200
Pachyonychia Congenita 3
Chapped lip, Nail dystrophy, Palmoplantar keratoderma, Palmar hyperkeratosis, Hyperkeratosis, Ony... OMIM:615726
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Failure to thrive, Recurrent viral infections, Alopecia, Recurrent infection... ORPHA:169154
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Leukonychia ORPHA:2698
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Underfolded helix, Genu varum, Reduced bone mineral density, Protruding ear, Intervertebral space... ORPHA:93315
Spondyloarthropathy, Susceptibility To, 1
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... OMIM:106300
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Thickened skin, Palmoplantar keratoderma, Erythema, Alopecia, Abnormal fingernail morphology, Spa... ORPHA:659
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Long eyelashes, Pustule, Epidermal acanthosis OMIM:616069
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Genu recurvatum, Reduced bone mineral density, Hyperkeratosis, Sparse scalp hai... ORPHA:2611
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis, EEG abnormality ORPHA:1445
Aarskog-Scott Syndrome
Abnormal vertebral segmentation and fusion, Low-set, posteriorly rotated ears, Inguinal hernia, G... ORPHA:915
Limb-Mammary Syndrome
Psoriasiform dermatitis, Hypoplastic nipples, Alopecia, Sparse eyebrow, Breast aplasia, Chronic i... ORPHA:69085
Noonan Syndrome 8
Eczema, Palmoplantar cutis laxa, Webbed neck, Curly hair, Hyperkeratosis OMIM:615355
Omenn Syndrome
Erythroderma, Pneumonia, Pruritus, Thickened skin, Alopecia, Thyroiditis, Dry skin, Eosinophilia,... ORPHA:39041
Kniest Dysplasia
Laryngotracheomalacia, Coronal cleft vertebrae, Vertebral wedging, Abnormal joint morphology, Del... ORPHA:485
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Optic atrophy, Butterfly vertebrae, Vertebral fusion, Scoliosis, Lumbar ... ORPHA:313892
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Alopecia totalis, Absent fingernail, Alopecia universalis, Anonychia OMIM:609638
Oliver-Mcfarlane Syndrome
Long eyebrows, Sparse hair, Long eyelashes, Alopecia OMIM:275400
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Nail dystrophy, Alopecia, Nail pits OMIM:601705
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Spinal canal stenosis, Underfolded helix, Vertebral fusion, Hemivertebrae, Web... OMIM:263540
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Psoriasiform dermatitis, Recurrent aspiration pneumonia, Hypertrichosis, Chronic oral candidiasis... ORPHA:221139
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Eczema, Superficial dermal perivascular inflammatory infiltrate, Seborrheic dermatitis, Pruritus,... ORPHA:83617
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Melanin pigment aggregation in hair shafts, Silver-gray hair OMIM:607624
Deafness-Craniofacial Syndrome
Alopecia OMIM:125230
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus, Epidermal acanth... ORPHA:330064
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Webbed neck, Cervical C2/C3 vertebral fusion, Acetabular dysplasia, Flexion contracture, Low post... OMIM:616549
Rhizomelic Chondrodysplasia Punctata
Dry skin, Sparse body hair, Alopecia, Ichthyosis ORPHA:177
Mednik Syndrome
Ichthyosis, Hyperkeratosis ORPHA:171851
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Conductive hearing impairment, Vertebral fusion, Coarse hair, Wormian... OMIM:130720
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Conductive hearing impairment, Congenital sensorineural hearing impairment, Fa... OMIM:157800
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Omenn Syndrome
Recurrent bacterial infections, Hypoproteinemia, Failure to thrive, Recurrent fungal infections, ... OMIM:603554
Koolen-De Vries Syndrome
Vertebral fusion, Overfolded helix, Hypopigmentation of hair, Abnormal dental enamel morphology, ... ORPHA:96169
Pseudoprogeria Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Thin skin, Sparse and thin eyebrow, Sparse hair ORPHA:2985
Pili Torti
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... ORPHA:2889
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia, Ichthyosis OMIM:242510
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia... OMIM:612692
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Failure to thrive, Recurrent ... ORPHA:275
Kbg Syndrome
Vertebral fusion, Low anterior hairline, Macrotia, Vertebral arch anomaly, Thoracic kyphosis, Thi... OMIM:148050
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Hyperparakeratosis ORPHA:276280
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Salmonella osteomyelitis, Histoplasmosis, Diss... ORPHA:319552
Fibrodysplasia Ossificans Progressiva
Conductive hearing impairment, Ectopic ossification in muscle tissue, Ectopic ossification in lig... OMIM:135100
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Punctate keratitis, Follicular hyperkeratosis, Hypereosinophilia, Uve... OMIM:617388
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Alopecia, Fragile nails, Ichthyosis, Conjunctivitis OMIM:242150
Crandall Syndrome
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:202
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Failure to thrive, Increased susceptibility to fractures, Osteopo... ORPHA:2176
Riddle Syndrome
Weight loss, Erythema, Recurrent viral infections, Arthritis, Elevated alpha-fetoprotein, Recurre... ORPHA:420741
Spinocerebellar Ataxia Type 42
Psoriasiform dermatitis ORPHA:458803
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae ORPHA:1436
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Fine hair, Hyperkeratosis, Abnormal fingernail morphology, Sparse hai... ORPHA:1806
Milroy Disease
Erysipelas, Toenail dysplasia, Hyperkeratosis ORPHA:79452
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossified vertebral bo... ORPHA:66637
Familial Keratoacanthoma
Skin ulcer, Hyperkeratosis ORPHA:493
Iga Pemphigus
Pustule, Acantholysis, Pruritus, Neutrophilic infiltration of the skin, Eosinophilia, Ulcerative ... ORPHA:555905
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Nail dystrophy, Palmoplantar keratoderma, Abnormal epidermal morphology, H... ORPHA:79501
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:444
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Alopecia, Sparse hair OMIM:616353
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Recurre... OMIM:613502
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Failure to thrive, Recurrent otitis media, Recurrent enteroviral ... OMIM:601495
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent prot... ORPHA:572
Gorlin Syndrome
Hemivertebrae, Scoliosis, Vertebral fusion, Vertebral wedging ORPHA:377
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Increased susceptibility to fractures, Joint dislocation, Flexion contracture, ... OMIM:312150
Incontinentia Pigmenti
Atrophic, patchy alopecia, Fine hair, Hypoplastic nipples, Sparse hair, Ridged nail, Nail dystrop... OMIM:308300
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae OMIM:309620
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Psoriasiform lesion, Failure to thrive, Recurrent otitis media, Recurrent infections, Art... OMIM:614700
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Dry hair, Sparse hair, Coarse hair, Onychogryposis of toenails, Plantar hyperkeratosis OMIM:164680
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Alopecia, Erysipelas OMIM:615704