Gene Summary

Name:
keratin 2
Synonyms:
Krt2-17,  Krt2-2,  Krt2e

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
preweaning lethality, incomplete penetrance Krt2tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal kidney morphology Krt2tm1b(KOMP)Wtsi HOM Early adult 0.00
polycystic kidney Krt2tm1b(KOMP)Wtsi HOM Early adult 0.00
enlarged kidney Krt2tm1b(KOMP)Wtsi HOM Early adult 0.00
small testis Krt2tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal kidney morphology Krt2tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal testis morphology Krt2tm1b(KOMP)Wtsi HET Early adult 0.00
decreased grip strength Krt2tm1b(KOMP)Wtsi HET Early adult 6.13×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote Not available
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
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
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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.

Adult LacZ

LacZ Images Section

19 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

29 Images

Human diseases caused by Krt2 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.

The table below shows human diseases associated to Krt2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Superficial Epidermolytic Ichthyosis
Ichthyosis, Palmoplantar keratoderma, Acantholysis, Edema, Erythema ORPHA:455
Ichthyosis Bullosa Of Siemens
Congenital bullous ichthyosiform erythroderma OMIM:146800

The table below shows human diseases predicted to be associated to Krt2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Reactive Perforating Collagenosis
Abnormal epidermal morphology, Abnormal pinna morphology, Perifolliculitis, Inflammatory abnormal... ORPHA:79147
Ichthyosis, Congenital, Autosomal Recessive 14
Scaling skin, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous icht... OMIM:617571
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Pruritus OMIM:146750
Verrucous Hemangioma
Epidermal acanthosis, Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Peeling Skin Syndrome 6
Scaling skin, Parakeratosis, Dry skin, Atopic dermatitis, Orthokeratosis, Pruritus OMIM:618084
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Porokeratosis, Pruritus, Palmoplantar hyperkeratosis ORPHA:737
Ichthyosis, Congenital, Autosomal Recessive 5
Epidermal acanthosis, Parakeratosis, Erythroderma, White scaling skin, Congenital nonbullous icht... OMIM:604777
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis, Pruritus ORPHA:735
Ichthyosis, Congenital, Autosomal Recessive 6
Scaling skin, Epidermal acanthosis, Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Erythr... OMIM:612281
Familial Isolated Café-Au-Lait Macules
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Dowling-Degos Disease 3
Palmar pits, Reticulated skin pigmentation, Hyperpigmented/hypopigmented macules OMIM:615674
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Ichthyosis, Congenital, Autosomal Recessive 8
Epidermal acanthosis, Ichthyosis, Hyperkeratosis, Hypergranulosis, Orthokeratosis, Erythema OMIM:613943
Keratoderma Hereditarium Mutilans With Ichthyosis
Epidermal acanthosis, Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Scaling skin on fing... ORPHA:79395
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Orthokeratosis, Hypergranulosis OMIM:148600
Ichthyosis Hystrix, Curth-Macklin Type
Scaling skin, Hyperkeratotic papule, Palmoplantar keratoderma OMIM:146590
Ichthyosis, Annular Epidermolytic, 2
Scaling skin, Ichthyosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, ... OMIM:620148
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Keratosis, Focal Palmoplantar And Gingival
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... OMIM:148730
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Peeling Skin Syndrome 4
Scaling skin, Epidermal acanthosis, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Orthoke... OMIM:607936
Ichthyosis With Erythrokeratoderma
Scaling skin, Epidermal acanthosis, Parakeratosis, Diffuse palmoplantar hyperkeratosis, Congenita... OMIM:620507
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythrode... OMIM:615023
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis OMIM:617574
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,... OMIM:613000
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hyperkeratotic papule, Follicular hyperkeratosis, Hypomelanotic macule OMIM:615327
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Peeling Skin Syndrome 5
Scaling skin, Epidermal acanthosis, Hyperkeratosis OMIM:617115
Hyperkeratosis-Hyperpigmentation Syndrome
Irregular hyperpigmentation, Hyperkeratosis, Multiple cafe-au-lait spots ORPHA:1336
Epidermolytic Hyperkeratosis 1
Scaling skin, Epidermal acanthosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar h... OMIM:113800
Ichthyosis, Annular Epidermolytic, 1
Scaling skin, Ichthyosis, Hyperparakeratosis, Congenital bullous ichthyosiform erythroderma, Palm... OMIM:607602
Psoriasis 2
Scaling skin, Epidermal acanthosis, Parakeratosis, Hyperkeratosis, Psoriasiform dermatitis OMIM:602723
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis, ... OMIM:617525
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Scaling skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkeratosis, Dry skin, Atopic de... ORPHA:530838
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Orthokerat... OMIM:604117
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Hyperkeratosis, Ichthyosis, Diffuse palmoplantar hyperkeratosis ORPHA:79503
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Sensorineural hearing impairment, Hyperkeratosis ORPHA:2202
Acrokeratoelastoidosis Of Costa
Epidermal acanthosis, Hyperkeratotic papule, Palmoplantar hyperkeratosis, Hypergranulosis, Orthok... ORPHA:38
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Insulin-Resistance Syndrome Type A
Generalized hyperpigmentation, Hyperkeratosis ORPHA:2297
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Cole Disease
Epidermal acanthosis, Hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma, Punctate palmopl... OMIM:615522
Hypotrichosis Simplex Of The Scalp
Scaling skin, Epidermal acanthosis, Parakeratosis, Hyperkeratosis, Atopic dermatitis, Allergic rh... ORPHA:90368
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers, Palmar pruritus, Atopic dermatitis, Orth... ORPHA:498359
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation, Hyperkeratosis ORPHA:315
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplan... OMIM:617526
Bazex Syndrome
Scaling skin, Parakeratosis, Lip hyperpigmentation, Acanthosis nigricans, Hyperkeratosis, Palmopl... ORPHA:166113
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Ichthyosis, Congenital, Autosomal Recessive 10
Generalized ichthyosis, Hyperkeratosis, Erythroderma, Orthokeratotic hyperkeratosis, Congenital n... OMIM:615024
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Hypomelanotic macule, Hyperkeratosis, Mixed hypo- and hyperpigmentation of... ORPHA:79399
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Generalized hyperkeratosis, Hyperkeratosis, Erythroderma, Cobblestone-like hyperkeratosis, Congen... OMIM:620150
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Pityriasis Rubra Pilaris
Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis OMIM:173200
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Ulerythema Ophryogenesis
Facial erythema, Contact dermatitis, Dry skin, Acne, Hyperkeratotic papule, Follicular hyperkerat... ORPHA:3406
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Erythrokeratodermia Variabilis Et Progressiva 1
Epidermal acanthosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderm... OMIM:133200
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Mal De Meleda
Epidermal acanthosis, Ichthyosis, Superficial dermal perivascular inflammatory infiltrate, Nonepi... ORPHA:87503
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Idiopathic Localized Lipodystrophy
Scaling skin, Morphea, Hyperpigmentation of the skin, Hypopigmentation of the skin, Inflammatory ... ORPHA:90158
Olmsted Syndrome 1
Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Subungual hyperkeratosis, Palmop... OMIM:614594
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Acquired Ichthyosis
Ichthyosis, Hyperkeratosis, Dry skin, Pruritus, Palmoplantar keratoderma, Recurrent skin infectio... ORPHA:454
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess fo... OMIM:613736
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Hypermelanotic macule, Multiple cafe-au-lait spots, Hearing impairmen... ORPHA:241
Anonychia With Flexural Pigmentation
Hyperkeratosis, Hypermelanotic macule, Axillary and groin hyperpigmentation and hypopigmentation,... ORPHA:69125
Bathing Suit Ichthyosis
Scaling skin, Epidermal acanthosis, Parakeratosis, Ichthyosis, Thickened skin, Congenital nonbull... ORPHA:100976
Elastosis Perforans Serpiginosa
Cutis laxa, Epidermal acanthosis, Crusting erythematous dermatitis, Hyperkeratotic papule ORPHA:79148
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Ichthyosis, Erythroderma, Hypergranulosis, Eosinophilic infiltration of the esophagus, Palmoplant... OMIM:615508
Atrophoderma Vermiculata
Erythema, Abnormal epidermal morphology, Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis ORPHA:79100
Parana Hard Skin Syndrome
Thickened skin, Generalized hyperpigmentation, Hyperkeratosis ORPHA:2812
Dowling-Degos Disease 4
Epidermal acanthosis, Pruritus, Hypergranulosis OMIM:615696
Acral Peeling Skin Syndrome
Scaling skin, Excessive wrinkling of palmar skin, Erythema, Hyperpigmentation of the skin ORPHA:263534
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Ichthyosis, Congenital, Autosomal Recessive 7
Epidermal acanthosis, Ichthyosis, Erythroderma, Palmoplantar keratoderma, Hypergranulosis OMIM:615022
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Scaling skin, Epidermal acanthosis, Cheilitis, Hyperkeratosis, Dry skin, Angular cheilitis, Punct... OMIM:616295
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Pruritus ORPHA:505
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Scaling skin, Parakeratosis, Psoriasiform lesion, Superficial dermal perivascular inflammatory in... ORPHA:284426
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Hyperkeratosis OMIM:136630
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperpigmentation of the skin, Hyperkeratosis, Hypopigmentation of the skin, Palmoplantar hyperke... ORPHA:89838
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Ichthyosis, Hyperkeratosis, Erythroderma, Congenital bullous ichthyosiform erythroder... ORPHA:312
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Eczematoid dermatitis, Orthokeratosis, Acne inversa, Subungual hyperkeratosis OMIM:617337
Infantile Digital Fibromatosis
Hyperkeratosis, Epidermal acanthosis, Parakeratosis ORPHA:199267
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Hearing impairment, Abnormality of skin pigmentation OMIM:300719
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Scaling skin, Epidermal acanthosis, Generalized hyperkeratosis, Generalized ichthyosis, Dry skin,... ORPHA:2269
Ichthyosis With Confetti
Scaling skin, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperker... OMIM:609165
Ichthyosis Prematurity Syndrome
Epidermal acanthosis, Polyhydramnios, Hyperpigmentation of the skin, Generalized ichthyosis, Alle... OMIM:608649
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Hyperkeratosis, Cafe-au-l... OMIM:145250
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Hearing impairment, Abnormality of skin p... ORPHA:42665
Acrokeratosis Verruciformis
Epidermal acanthosis, Hyperkeratosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acanth... OMIM:101900
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Hyperpigmentation of the skin, Generalized hypopigmentation, Spotty hyperpigmentat... ORPHA:158681
Pemphigus Foliaceus
Scaling skin, Pustule, Pruritus, Erythroderma, Skin vesicle, Acantholysis, Psoriasiform dermatiti... ORPHA:79481
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis, Epidermal acanthosis OMIM:610227
Classic Mycosis Fungoides
Irregular hyperpigmentation, Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Skin rash, D... ORPHA:2584
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Pityriasis Rubra Pilaris
Irregular hyperpigmentation, Ichthyosis, Erythroderma, Eczematoid dermatitis, Thickened skin, Pus... ORPHA:2897
Chilblain Lupus
Skin ulcer, Malar rash, Hyperkeratosis, Discoid lupus rash, Skin rash, Inflammatory abnormality o... ORPHA:90280
White Sponge Nevus 2
Edema, Epidermal acanthosis, Hyperparakeratosis OMIM:615785
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis, Diffuse palmoplantar hyperkeratosis, Hypergranulosis, Palmoplantar hyperker... ORPHA:2199
Lichen Planus Pemphigoides
Hyperkeratosis, Hypopigmented streaks, Blepharitis, Conjunctivitis, Skin vesicle, Pruritus ORPHA:254478
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Acute Generalized Exanthematous Pustulosis
Scaling skin, Purpura, Facial edema, Cheilitis, Hyperpigmentation of the skin, Predominantly derm... ORPHA:293173
Olmsted Syndrome, X-Linked
Epidermal acanthosis, Parakeratosis, Subungual hyperkeratosis, Hyperkeratosis, Blepharitis, Poste... OMIM:300918
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Epidermal acanthosis, Ichthyosis, Sclerosing cholangitis, Dry skin, Orthokeratosis... OMIM:607626
Palmoplantar Keratoderma And Congenital Alopecia 2
Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly, Palmoplantar hyperkeratosis OMIM:212360
Olmsted Syndrome 2
Epidermal acanthosis, Parakeratosis, Cheilitis, Perioral hyperkeratosis, Hyperkeratosis, Palmopla... OMIM:619208
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Facial erythema, Pruritus on foot, Palmar pruritus, Eczematoid dermatitis, Palmopl... ORPHA:64745
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer, Pruritus ORPHA:409
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Ichthyosis, Hystrix-Like, With Deafness
Ichthyosis, Sensorineural hearing impairment, Hyperkeratosis, Erythroderma, Cobblestone-like hype... OMIM:602540
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Hyperkeratosis, Reduced epidermal extracellular matrix protein 1 protein expression OMIM:247100
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Acute Radiation Syndrome
Scaling skin, Skin ulcer, Hyperpigmentation of the skin, Hyperkeratosis, Hypopigmentation of the ... ORPHA:454831
Darier Disease
Hypermelanotic macule, Thickened skin, Abnormality of skin pigmentation, Acrokeratosis, Palmoplan... ORPHA:218
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Scaling skin, Ichthyosis, Hyperkeratosis, Dry skin, Congenital nonbullous ichthyosiform erythrode... OMIM:614457
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Acne inversa, Chronic furunculosis, Perifolliculitis OMIM:613737
Erythrokeratodermia Variabilis
Irregular hyperpigmentation, Hypermelanotic macule, Hyperkeratosis, Skin rash, Dry skin, Hearing ... ORPHA:317
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Scaling skin, Hypermelanotic macule, Dry skin, Palmoplantar keratoderma, Freckling, Hypomelanotic... OMIM:618373
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Subacute Cutaneous Lupus Erythematosus
Cheilitis, Psoriasiform lesion, Malar rash, Hyperkeratosis, Discoid lupus rash ORPHA:163525
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Darier-White Disease
Hypermelanotic macule, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments OMIM:124200
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Vulvovaginal Gingival Syndrome
Pruritus, Epidermal acanthosis, Parakeratosis, Erythema ORPHA:83453
Superficial Epidermolytic Ichthyosis
Ichthyosis, Palmoplantar keratoderma, Acantholysis, Edema, Erythema ORPHA:455
Amyloidosis, Primary Localized Cutaneous, 3
Generalized hyperpigmentation, Hypermelanotic macule, Dry skin OMIM:617920
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Ichthyosis Vulgaris
Ichthyosis, Absent keratohyalin granules, Dry skin, Eczematoid dermatitis OMIM:146700
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Melanocytic nevus ORPHA:2435
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Hypotrichosis 6
Pruritus, Erythema, Follicular hyperkeratosis OMIM:607903
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... OMIM:614840
Congenital Disorder Of Glycosylation, Type If
Scaling skin, Hyperkeratosis, Erythroderma, Dry skin OMIM:609180
Basan Syndrome
Hypermelanotic macule, Epidermal acanthosis, Single transverse palmar crease, Cutaneous syndactyl... OMIM:129200
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hypermelanotic macule, Hypomelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Palma... ORPHA:79397
Cutaneous Mastocytoma
Scaling skin, Hypermelanotic macule, Erythema, Maculopapular exanthema, Hyperpigmentation of the ... ORPHA:79455
Peeling Skin Syndrome 3
White scaling skin, Pruritus, Erythema OMIM:616265
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis, Dry skin ORPHA:461
Uv-Sensitive Syndrome 1
Dry skin, Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Ichthyosis, Congenital, Autosomal Recessive 1
Epidermal acanthosis, Ichthyosis, Parakeratosis, Congenital ichthyosiform erythroderma, Congenita... OMIM:242300
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Lamellar Ichthyosis
Chronic otitis media, Ichthyosis, Abnormal helix morphology, Hyperkeratosis, Dehydration, Dry ski... ORPHA:313
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each finger ... OMIM:148700
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Lichen Planopilaris
Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Hepatitis, Pruritus ORPHA:525
Uv-Sensitive Syndrome 3
Dry skin, Freckling OMIM:614640
Punctate Palmoplantar Keratoderma Type 1
Epidermal acanthosis, Abnormal epidermal morphology, Hypergranulosis, Palmoplantar hyperkeratosis... ORPHA:79501
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Pustular ras... OMIM:613953
Dowling-Degos Disease
Inguinal freckling, Hypermelanotic macule, Progressive reticulate hyperpigmentation, Arthritis, H... ORPHA:79145
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in flexural areas, Congenital ... OMIM:601952
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Acral Self-Healing Collodion Baby
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Edema of the dorsum of hands, ... ORPHA:281127
Trichothiodystrophy 7, Nonphotosensitive
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis OMIM:618546
Acrokeratosis Verruciformis Of Hopf
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis ORPHA:79151
Woolly Hair-Skin Fragility Syndrome
Palmoplantar keratoderma, Acantholysis OMIM:620415
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Sensorineural hearing impairment, Hypopigmentat... OMIM:619947
Lymphatic Malformation 4
Hyperkeratosis, Lymphedema, Pedal edema OMIM:615907
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Odontoonychodermal Dysplasia
Epidermal acanthosis, Palmoplantar hyperkeratosis, Dry skin, Palmoplantar erythema, Plantar hyper... OMIM:257980
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin, Pruritus OMIM:105250
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Osteomyelitis OMIM:615632
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hepatosplenomegaly, Hyperechogenic kidne... OMIM:619902
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Familial Benign Chronic Pemphigus
Hyperkeratosis, Skin vesicle, Acantholysis, Erythema ORPHA:2841
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Mottled pigmentation OMIM:620199
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Erythema, Hyperpigmentation of the skin ORPHA:90157
Focal Palmoplantar And Gingival Keratoderma
Gingival hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Circumungual hyperke... ORPHA:2200
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Ichthyosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Pruritus OMIM:615821
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Anonychia With Flexural Pigmentation
Dry skin, Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Dissecting Cellulitis Of The Scalp
Edema, Recurrent skin infections, Pruritus ORPHA:345
Iga Pemphigus
Skin vesicle, Eosinophilia, Pustule, Neutrophilic infiltration of the skin, Acantholysis, Cutaneo... ORPHA:555905
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Plantar hyperkeratosis OMIM:616487
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Pruritus ORPHA:89843
Sjögren-Larsson Syndrome
Ichthyosis, Inflammatory abnormality of the eye, Hyperkeratosis, Dry skin, Abnormality of retinal... ORPHA:816
Moynahan Syndrome
Sensorineural hearing impairment, Hyperkeratosis ORPHA:2574
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Pemphigus Erythematosus
Hypopigmented skin patches, Acantholysis, Malar rash ORPHA:79480
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Rothmund-Thomson Syndrome, Type 1
Cafe-au-lait spot, Hyperkeratosis, Recurrent otitis media OMIM:618625
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreat... OMIM:263200
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Macrotia, Congenital bullous ichthyosiform erythroderma, Follicular hyp... OMIM:613576
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Palmoplantar keratoderma, Epidermal acanthosis, Plantar hyperkeratosis OMIM:615735
Night Blindness, Congenital Stationary, Type 1C
Abnormality of skin pigmentation, Dry skin OMIM:613216
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Discrete 2 to 5-mm hyper- and hypopigmented macules, Punctate palmoplantar hyperkeratosis, Mottle... OMIM:131960
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Folliculitis, Dry skin, Blepharitis, Keratitis, Conjunctivitis, Palmoplantar ker... OMIM:308800
Irida Syndrome
Hyperkeratosis, Pallor, Ichthyosis ORPHA:209981
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Palmoplantar hyperkeratosis OMIM:604536
Psoriasis 14, Pustular
Epidermal acanthosis, Parakeratosis, Cholangitis, Pustule, Psoriasiform dermatitis, Erythema, Oli... OMIM:614204
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Hyperkeratosis, Low-set ears, Dry skin, Eczematoid dermatitis, Cutis laxa, Abnormalit... OMIM:612379
Dermatitis, Atopic
Facial erythema, Ichthyosis, Dry skin, Atopic dermatitis, Eczematoid dermatitis, Allergic rhiniti... OMIM:603165
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Bullous Dystrophy, Hereditary Macular Type
Short finger, Tapered finger, Hyperpigmentation of the skin OMIM:302000
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar scaling skin, Palmoplantar erythema, Palmoplantar hyperkeratosis, Palmoplantar kerat... OMIM:605676
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Palmoplantar Keratoderma And Congenital Alopecia 1
Hyperpigmentation of the skin, Palmoplantar erythema, Palmoplantar keratoderma, Epidermal hyperke... OMIM:104100
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Palmoplantar Keratoderma, Epidermolytic, 1
Palmar hyperkeratosis, Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplant... OMIM:144200
Keratoderma Hereditarium Mutilans
Ichthyosis, Sensorineural hearing impairment, Hyperkeratosis, Hearing impairment, Honeycomb palmo... ORPHA:494
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Harlequin Ichthyosis
Ichthyosis, Congenital ichthyosiform erythroderma, Hyperkeratosis, Dehydration, Erythroderma ORPHA:457
Variegate Porphyria, Childhood-Onset
Epidermal hyperkeratosis, Atopic dermatitis OMIM:620483
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Kid Syndrome
Scaling skin, Epidermal acanthosis, Prelingual sensorineural hearing impairment, Recurrent bacter... ORPHA:477
Chilblain Lupus 2
Chilblains OMIM:614415
Aicardi-Goutieres Syndrome 5
Scaling skin, Dry skin, Chilblains OMIM:612952
Proteus Syndrome
Hyperkeratosis, Epidermal acanthosis, Depigmentation/hyperpigmentation of skin OMIM:176920
Immunodeficiency 58
Scaling skin, Chronic otitis media, Ichthyosis, Psoriasiform lesion, Recurrent aphthous stomatiti... OMIM:618131
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Ichthyosis, Congenital, Autosomal Recessive 3
Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar kerato... OMIM:606545
Meige Disease
Skin ulcer, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Lymphedema, Pleura... ORPHA:90186
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, Heterochromia iridis, White eyelashes, Congenital sensorineural hea... OMIM:103500
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Ectodermal Dysplasia/Short Stature Syndrome
Palmoplantar keratoderma, Sensorineural hearing impairment, Epidermal acanthosis, Hyperkeratosis OMIM:616029
Peeling Skin Syndrome 1
Scaling skin, Eosinophilia, Erythroderma, Pruritus OMIM:270300
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis, Freckling, Melanocytic nevus ORPHA:1573
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Hypopigmentation of the skin, Diffuse palmoplantar hyperkeratosis OMIM:617294
Milroy Disease
Predominantly lower limb lymphedema, Hyperkeratosis, Lymphedema, Erysipelas, Pedal edema ORPHA:79452
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Polycystic ovaries ORPHA:90301
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Hypertrichosis Lanuginosa Congenita
Hearing impairment, Abnormality of skin pigmentation ORPHA:2222
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Ermine Phenotype
Sensorineural hearing impairment, White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation... OMIM:227010
Flynn-Aird Syndrome
Hyperkeratosis, Progressive sensorineural hearing impairment OMIM:136300
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Epidermal acanthosis, Parakeratosis, Hyperkeratosis, Hearing impairment, Congenital ichthyosiform... OMIM:308050
Chronic Actinic Dermatitis
Hypopigmented skin patches, Epidermal acanthosis, Late onset atopic dermatitis, Eczematoid dermat... ORPHA:330064
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock, Severe sensorine... OMIM:601706
Diffuse Cutaneous Mastocytosis
Scaling skin, Mixed hypo- and hyperpigmentation of the skin, Peau d'orange, Thickened skin, Eryth... ORPHA:79456
Ichthyosis Bullosa Of Siemens
Congenital bullous ichthyosiform erythroderma OMIM:146800
Lipoid Proteinosis
Thickened skin, Hyperkeratosis, Pustule, Acne ORPHA:530
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Neonatal death, Renal cyst OMIM:614870
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Microcephaly-Albinism-Digital Anomalies Syndrome
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Iris hypo... ORPHA:2513
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Tylosis With Esophageal Cancer
Parakeratosis, Follicular hyperkeratosis, Diffuse palmoplantar hyperkeratosis OMIM:148500
Ectodermal Dysplasia-Skin Fragility Syndrome
Scaling skin, Cheilitis, Recurrent pneumonia, Palmoplantar keratoderma, Recurrent skin infections... ORPHA:158668
Kerion Celsi
Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... ORPHA:499
Ichthyosis, Congenital, Autosomal Recessive 2
Epidermal acanthosis, Congenital ichthyosiform erythroderma, Hyperkeratosis, Congenital nonbullou... OMIM:242100
Leopard Syndrome 3
Multiple lentigines, Sensorineural hearing impairment, Hyperkeratosis, Low-set ears, Dry skin, Po... OMIM:613707
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Mixed hearing impairment, Congenital sensorineural hearing impairment, Palmoplantar hyperkeratosi... ORPHA:2698
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Epidermal acanthosis, Parakeratosis, Ichthyosis, Acanthosis nigricans, Sensorineural hearing impa... OMIM:618527
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615993
Noonan Syndrome 8
Polyhydramnios, Hyperpigmentation of the skin, Hyperkeratosis, Low-set ears, Pleural effusion, Ec... OMIM:615355
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Netherton Syndrome
Parakeratosis, Hypereosinophilia, Chronic rhinitis, Eczematoid dermatitis, Angioedema, Congenital... OMIM:256500
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Recurrent urinary tract infections, Polycystic kidney dysplasia, Multiple renal cys... OMIM:613095
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Palmoplantar keratoderma, Triphalangeal thumb, Hyperpigmentation of t... ORPHA:2251
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Ramon Syndrome
Sensorineural hearing impairment, Hyperkeratosis, Conductive hearing impairment, Abnormality of r... ORPHA:3019
Lymphatic Malformation 12
Polyhydramnios, Hyperkeratosis, Lymphedema, Nonimmune hydrops fetalis, Fetal ascites OMIM:620014
Chromomycosis
Hypopigmented skin patches, Keratoconjunctivitis sicca, Hyperparakeratosis, Predominantly lower l... ORPHA:182
Schopf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Hyperkeratosis, Dry skin OMIM:224750
Centrifugal Lipodystrophy
Scaling skin, Inflammatory abnormality of the skin, Lymphadenitis, Erythema ORPHA:90156
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Epidermal acanthosis, Stomatitis, Hyperkeratosis, Skin rash, Pustule, Joint swelling, Osteomyelitis OMIM:612852
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis ORPHA:704
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Sensorineural hearing impairment, Piebal... ORPHA:998
Chronic Mucocutaneous Candidiasis
Cheilitis, Skin ulcer, Erythema, Hyperkeratosis, Skin rash, Hepatitis, Pruritus ORPHA:1334
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Ichthyosis, Congenital, Autosomal Recessive 11
Congenital ichthyosiform erythroderma, Blepharitis, Hyperkeratosis, Pruritus OMIM:602400
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Dry skin, Eczematoid dermatitis, Blepharitis, Palmoplantar keratoderma, Pruritus OMIM:618535
Transgrediens Et Progrediens Palmoplantar Keratoderma
Facial erythema, Diffuse palmoplantar hyperkeratosis, Recurrent bacterial skin infections, Angula... ORPHA:495
Hereditary Sensory And Autonomic Neuropathy Type 1
Skin ulcer, Hyperkeratosis, Penetrating foot ulcers, Hearing impairment, Osteomyelitis ORPHA:36386
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Congenital Ichthyosiform Erythroderma
Ichthyosis, Erythroderma, Hearing impairment, Keratitis, Palmoplantar keratoderma, Pruritus ORPHA:79394
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Immunodeficiency 53
Recurrent pneumonia, Skin rash, Recurrent otitis media OMIM:617585
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Sensorineural hearing impairment, Follicular hyperkeratosis ORPHA:300179
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Prolidase Deficiency
Skin ulcer, Hyperkeratosis, Dry skin, White forelock, Hearing impairment, Abnormality of retinal ... ORPHA:742
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Hidrotic Ectodermal Dysplasia
Hypopigmentation of hair, Hyperpigmentation of the skin, Cobblestone-like hyperkeratosis, Hearing... ORPHA:189
Mpdu1-Cdg
Scaling skin, Ichthyosis, Eczematoid dermatitis ORPHA:79323
Palmoplantar Carcinoma, Multiple Self-Healing
Epidermal acanthosis, Parakeratosis, Chronic rhinitis, Palmoplantar keratoderma, Follicular hyper... OMIM:615225
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Epidermal acanthosis, Angular cheilitis, Follicular hyperkeratosis OMIM:613102
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Ichthyosis, Low-set, posteriorly rotated ears, Eczematoid dermatitis ORPHA:3055
Congenital Disorder Of Glycosylation, Type Im
Hyperkeratosis, Ichthyosis, Inflammatory abnormality of the skin, Dry skin OMIM:610768
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Ambiguous genitalia, male, Hypoplasia of penis, Abnormality of the endocrine system, Bifid scrotu... ORPHA:753
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy ORPHA:3033
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hyperkeratosis, Hypopigmentation of the skin, Thickened skin, Iris hypo... ORPHA:79431
Rat-Bite Fever
Scaling skin, Morbilliform rash, Myocarditis, Pancreatitis, Arthritis, Skin rash, Parotitis, Lymp... ORPHA:31205
Warty Dyskeratoma
Acantholysis, Epidermal thickening, Acrokeratosis ORPHA:69745
Hidrotic Ectodermal Dysplasia, Halal Type
Hearing impairment, Protruding ear, Multiple cafe-au-lait spots, Follicular hyperkeratosis ORPHA:1809
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Sensorineural hearing impairment, Heteroc... OMIM:193510
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Enlarged kidney, Hepatomegaly, Hepatic cysts, Cystic renal dysplasia OMIM:615415
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Dry skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hearing impairment, Hyperkeratosis, Lymphedema ORPHA:79279
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidn... OMIM:231680
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Keratoconjunctivitis sicca, Inflammatory abnormality of the eye, Hyp... ORPHA:238468
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Pili Torti-Onychodysplasia Syndrome
Abnormal pinna morphology, Generalized keratosis follicularis, Dry skin, Eczematoid dermatitis, P... ORPHA:2890
Autoinflammation With Arthritis And Dyskeratosis
Epidermal acanthosis, Thyroiditis, Dry skin, Uveitis, Punctate keratitis, Palmoplantar hyperkerat... OMIM:617388
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Poikiloderma With Neutropenia
Recurrent otitis media, Hyperkeratosis, Skin rash, Reticular hyperpigmentation, Blepharitis, Recu... OMIM:604173
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia, Long penis ORPHA:1988
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Idiopathic Trachyonychia
Ichthyosis, Vitiligo, Atopic dermatitis, Circumungual hyperkeratosis ORPHA:79153
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
X-Linked Dominant Chondrodysplasia Punctata
Scaling skin, Ichthyosis, Sensorineural hearing impairment, Abnormal pinna morphology, Low-set ea... ORPHA:35173
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sensorineural hearing impairment, Hyperkeratosis ORPHA:1883
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer, Hyperkeratosis, Hearing impairment, Abnormality of skin pigmentation, Protruding ear,... ORPHA:1806
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Neonatal Lupus Erythematosus
Parakeratosis, Malar rash, Hyperkeratosis, Skin rash, Maculopapular exanthema ORPHA:398124
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Graft Versus Host Disease
Scaling skin, Gastrointestinal inflammation, Inflammatory abnormality of the eye, Stomatitis, Acu... ORPHA:39812
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Pachyonychia Congenita 3
Palmoplantar keratoderma, Plantar hyperkeratosis, Palmar hyperkeratosis, Chapped lip, Follicular ... OMIM:615726
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Pancreatic cysts, Neonatal death, Ure... OMIM:208540
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hearing impairment, Enterocolitis, Hyperkeratosis OMIM:301108
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Huriez Syndrome
Epidermal acanthosis, Congenital palmoplantar hyperkeratosis OMIM:181600
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Skin vesicle, Hyperkeratotic papule, Pruritus ORPHA:79410
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Brachytelomesophalangy, Freckling ORPHA:1547
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Scaling skin, Facial erythema, Unilateral deafness, Dry skin, Sclerodactyly, Palmoplantar keratod... ORPHA:1010
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Bacterial Toxic-Shock Syndrome
Scaling skin, Myocarditis, Pneumonia, Myositis, Arthritis, Skin rash, Hepatitis, Sinusitis, Ecchy... ORPHA:36234
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Abnormality of skin pigmentation ORPHA:79402
Hydroa Vacciniforme
Malar rash, Superficial dermal perivascular inflammatory infiltrate, Eczematoid dermatitis, Papul... ORPHA:330058
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormality of skin pigmentation, Purpura, Skin ulcer ORPHA:743
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Monilethrix
Follicular hyperkeratosis ORPHA:573
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation, Purpura ORPHA:745
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule, Erythema ORPHA:346
X-Linked Sideroblastic Anemia
Pallor, Hyperpigmentation of the skin ORPHA:75563
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Abnormality of skin pigmentation, Skin ulcer, Joint contracture of th... ORPHA:220402
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Facial erythema, Folliculitis, Blepharitis, Keratitis, Conjunctivitis, Palmoplantar keratoderma OMIM:612843
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Sézary Syndrome
Irregular hyperpigmentation, Erythroderma, Dry skin, Palmoplantar keratoderma, Edema, Pruritus ORPHA:3162
Monilethrix
Perifollicular hyperkeratosis OMIM:158000
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex... OMIM:614377
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pneumonia, Recurrent otitis media, Psoriasiform lesion, Thyroiditis, Colitis, Arthritis, Bronchie... OMIM:614700
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis, Bronchiectasis, Reticular hyperpigmentation, Recurrent pneumonia, Generalized ret... OMIM:301220
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Neonatal death, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Immunodeficiency 104
Recurrent otitis media, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Otitis media, P... OMIM:608971
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia, Hepatomegaly, Splenomegaly OMIM:608776
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Scaling skin, Chronic oral candidiasis, Thyroiditis, Eczematoid dermatitis, Erythroderma, Psorias... OMIM:606367
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis ORPHA:486815
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... OMIM:308750
Dracunculiasis
Skin ulcer, Arthritis, Skin rash, Recurrent cutaneous abscess formation, Pruritus ORPHA:231
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin, Erythema ORPHA:90160
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis, Palmar pits OMIM:618267
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Neonatal death, Urethral atresia OMIM:314390
Elastoderma
Cutis laxa, Erysipelas, Premature skin wrinkling, Eczematoid dermatitis ORPHA:228240
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen... OMIM:308700
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Pachyonychia Congenita 2
Palmoplantar hyperkeratosis, Folliculitis, Angular cheilitis, Subungual hyperkeratosis OMIM:167210
Costello Syndrome
Polyhydramnios, Acanthosis nigricans, Low-set, posteriorly rotated ears, Redundant skin, Hyperker... ORPHA:3071
Branchiootorenal Syndrome 1
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst... OMIM:113650
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Localized Dystrophic Epidermolysis Bullosa, Acral Form