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Gene: Krt2 MGI:96699

Gene Summary

Name:

keratin 2

Synonyms:

Krt2-17, Krt2-2, Krt2e

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal kidney morphology	Krt2^{tm1b(KOMP)Wtsi}	HET	Early adult	0.00
abnormal testis morphology	Krt2^{tm1b(KOMP)Wtsi}	HET	Early adult	0.00
decreased grip strength	Krt2^{tm1b(KOMP)Wtsi}	HET	Early adult	6.13×10^-05
abnormal kidney morphology	Krt2^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
enlarged kidney	Krt2^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
preweaning lethality, incomplete penetrance	Krt2^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
small testis	Krt2^{tm1b(KOMP)Wtsi}	HET	Early adult	0.00
polycystic kidney	Krt2^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00

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	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)
Epididymis	N/A	heterozygote	50% (1 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
Ileum	N/A	heterozygote	50% (1 of 2)
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)
Penis	N/A	heterozygote	50% (1 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)
Prostate gland	N/A	heterozygote	50% (1 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
Skin	N/A	heterozygote	100% (2 of 2)
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)
Testis	N/A	heterozygote	50% (1 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)
Vagina	N/A	heterozygote	50% (1 of 2)
Vas deferens	N/A	heterozygote	50% (1 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

View images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

29 Images

View 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.

Human diseases associated with Krt2 (2 diseases)
Human diseases predicted to be associated with Krt2 (941 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Superficial Epidermolytic Ichthyosis		Erythema, Palmoplantar keratoderma, Ichthyosis, Acantholysis, Edema	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	Matching phenotypes	Source
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Abnormal epidermal morphology, Inflammatory abnormality of the skin, Spott...	ORPHA:79147
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis, Congenital nonbu...	OMIM:617571
Palmoplantar Keratoderma, Norrbotten Recessive Type	Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Verrucous Hemangioma	Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin	ORPHA:464318
Peeling Skin Syndrome 6	Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus	OMIM:618084
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis	ORPHA:737
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Erythroderma, Epider...	OMIM:604777
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Epidermal acanthosis, Erythrod...	OMIM:612281
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules, Palmar pits, Reticulated skin pigmentation	OMIM:615674
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hypergranulosis	OMIM:615598
Ichthyosis, Congenital, Autosomal Recessive 8	Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Epidermal acanthosis, Hyperkeratosis	OMIM:613943
Keratoderma Hereditarium Mutilans With Ichthyosis	Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis,...	ORPHA:79395
Palmoplantar Keratoderma, Punctate Type Ia	Epidermal acanthosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Ichthyosis, Annular Epidermolytic, 2	Erythema, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperkeratosis, Scal...	OMIM:620148
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Epidermal acanthosis, Hyperkeratosis	OMIM:615028
Keratosis, Focal Palmoplantar And Gingival	Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat...	OMIM:148730
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Scaling skin, Epidermal acanthosis, Hyperke...	OMIM:607936
Ichthyosis With Erythrokeratoderma	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Diffuse palmoplantar h...	OMIM:620507
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hypergranulosis, Erythroderma, Epidermal acanthosis, Hyperkeratosis, Congenital n...	OMIM:615023
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis	OMIM:617574
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ...	OMIM:613000
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis, Reticular hyperpigmentation, Hypomelanotic macule	OMIM:615327
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Peeling Skin Syndrome 5	Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:617115
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Irregular hyperpigmentation, Hyperkeratosis	ORPHA:1336
Epidermolytic Hyperkeratosis 1	Palmoplantar hyperkeratosis, Erythroderma, Scaling skin, Epidermal acanthosis, Congenital bullous...	OMIM:113800
Ichthyosis, Annular Epidermolytic, 1	Erythema, Orthokeratosis, Hyperparakeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Scaling sk...	OMIM:607602
Psoriasis 2	Psoriasiform dermatitis, Parakeratosis, Scaling skin, Epidermal acanthosis, Hyperkeratosis	OMIM:602723
Dowling-Degos Disease 1	Progressive reticulate hyperpigmentation	OMIM:179850
Linear Atrophoderma Of Moulin	Linear hyperpigmentation	ORPHA:140933
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Epidermal acanthosis, Hyperk...	OMIM:617525
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat...	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	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Parakeratosis, Hyperkerat...	OMIM:604117
Ichthyosis Hystrix Of Curth-Macklin	Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyperkeratosis, Ichthyosis	ORPHA:79503
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis, Sensorineural hearing impairment	ORPHA:2202
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Epidermal ac...	ORPHA:38
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Insulin-Resistance Syndrome Type A	Generalized hyperpigmentation, Hyperkeratosis	ORPHA:2297
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Cole Disease	Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Punctate palmop...	OMIM:615522
Hypotrichosis Simplex Of The Scalp	Allergic rhinitis, Atopic dermatitis, Parakeratosis, Scaling skin, Epidermal acanthosis, Pruritus...	ORPHA:90368
Nevus, Epidermal	Melanocytic nevus	OMIM:162900
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Palmar pruritus, Exce...	ORPHA:498359
Erythrokeratodermia Variabilis Et Progressiva 5	Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617756
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis, Abnormality of skin pigmentation	ORPHA:315
Erythrokeratodermia Variabilis Et Progressiva 4	Erythema, Palmoplantar hyperkeratosis, Epidermal acanthosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Bazex Syndrome	Palmoplantar keratoderma, Lip hyperpigmentation, Parakeratosis, Acanthosis nigricans, Scaling ski...	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	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz...	OMIM:615024
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Spotty hyperpigmentation, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, H...	ORPHA:79399
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis	OMIM:173200
Keratosis Palmoplantaris Striata Ii	Epidermal acanthosis, Palmoplantar keratoderma	OMIM:612908
Ulerythema Ophryogenesis	Hyperkeratotic papule, Dry skin, Facial erythema, Follicular hyperkeratosis, Contact dermatitis, ...	ORPHA:3406
Uv-Sensitive Syndrome 2	Freckling	OMIM:614621
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Erythrokeratodermia Variabilis Et Progressiva 1	Hypergranulosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Ep...	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	Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Ichthyosis, Superficial...	ORPHA:87503
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Idiopathic Localized Lipodystrophy	Erythema, Inflammatory abnormality of the skin, Hypopigmentation of the skin, Scleroderma, Morphe...	ORPHA:90158
Olmsted Syndrome 1	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hyperparakeratosis, Periorifi...	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	Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Ichthyosis, Pruritus, Hy...	ORPHA:454
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane...	OMIM:613736
Dyschromatosis Universalis Hereditaria	Hypopigmented skin patches, Hearing impairment, Spotty hypopigmentation, Multiple cafe-au-lait sp...	ORPHA:241
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Follicular hyperkeratosis, Hyperkeratosis, Axillary and groin hyperpigment...	ORPHA:69125
Bathing Suit Ichthyosis	Thickened skin, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Erythroderma, Scaling ski...	ORPHA:100976
Elastosis Perforans Serpiginosa	Crusting erythematous dermatitis, Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa	ORPHA:79148
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Psoriasiform dermatitis, Ichthyosis, E...	OMIM:615508
Atrophoderma Vermiculata	Hyperkeratotic papule, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Pruritus	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	Erythema, Hyperpigmentation of the skin, Excessive wrinkling of palmar skin, Scaling skin	ORPHA:263534
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Hypergranulosis, Ichthyosis, Erythroderma, Epidermal acanthosis	OMIM:615022
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Cheilitis, Dry skin, Angular cheilitis, Epidermal acanthosis, Follicular hyperkeratosis, Punctate...	OMIM:616295
Graham Little-Piccardi-Lassueur Syndrome	Pruritus, Perifollicular hyperkeratosis	ORPHA:505
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Psoriasiform lesion, Superficial dermal perivascula...	ORPHA:284426
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hypopigmentation of the skin, Hyperpigmentation of the skin, Palmoplantar hyperkeratosis, Pruritu...	ORPHA:89838
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Erythroderma, Congenital bullous ichthyosiform ...	ORPHA:312
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Orthokeratosis, Eczematoid dermatitis, Acne inversa	OMIM:617337
Infantile Digital Fibromatosis	Parakeratosis, Epidermal acanthosis, Hyperkeratosis	ORPHA:199267
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Hearing impairment, Abnormality of skin pigmentation	OMIM:300719
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Generalized hyperkeratosis, Dry skin, Cutis laxa, Epidermal acanthosis, Scaling skin, Generalized...	ORPHA:2269
Ichthyosis With Confetti	Ichthyosis, Palmoplantar hyperkeratosis, Erythroderma, Scaling skin, Pruritus, Congenital nonbull...	OMIM:609165
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Hyperpigmentation of the skin, Follicular hyperkeratosis, Erythroderma, Epider...	OMIM:608649
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperke...	OMIM:145250
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Tietz Syndrome	Hypopigmentation of the skin, Hearing impairment, White eyebrow, Abnormality of skin pigmentation...	ORPHA:42665
Acrokeratosis Verruciformis	Acrokeratosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperker...	OMIM:101900
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Spotty hyperpigmentation, Erythema migrans, Parakeratosis, Generalized reticulate brown pigmentat...	ORPHA:158681
Pemphigus Foliaceus	Erythema, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Skin vesicle, Eryth...	ORPHA:79481
Seborrhea-Like Dermatitis With Psoriasiform Elements	Epidermal acanthosis, Seborrheic dermatitis, Hyperkeratosis	OMIM:610227
Classic Mycosis Fungoides	Erythema, Irregular hyperpigmentation, Eczematoid dermatitis, Hypopigmented skin patches, Skin ul...	ORPHA:2584
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia	OMIM:614844
Pityriasis Rubra Pilaris	Thickened skin, Subungual hyperkeratosis, Irregular hyperpigmentation, Palmoplantar keratoderma, ...	ORPHA:2897
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Skin ulcer, Malar rash, Skin rash, Prur...	ORPHA:90280
White Sponge Nevus 2	Epidermal acanthosis, Edema, Hyperparakeratosis	OMIM:615785
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperke...	ORPHA:2199
Lichen Planus Pemphigoides	Skin vesicle, Hypopigmented streaks, Conjunctivitis, Pruritus, Hyperkeratosis, Blepharitis	ORPHA:254478
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis, Pruritus, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Parakeratosis, Palmopl...	OMIM:300918
Acute Generalized Exanthematous Pustulosis	Facial edema, Cheilitis, Predominantly dermal neutrophilic infiltrate, Pustule, Eosinophilic derm...	ORPHA:293173
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Orthokeratosis, Dry skin, Ichthyosis, Sclerosing cholangitis, Parakeratosis, Epidermal acanthosis...	OMIM:607626
Palmoplantar Keratoderma And Congenital Alopecia 2	Dry skin, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly	OMIM:212360
Olmsted Syndrome 2	Cheilitis, Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperke...	OMIM:619208
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Parakeratosis, Pal...	ORPHA:64745
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer	ORPHA:409
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sensorineural hearing impa...	OMIM:602540
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi...	OMIM:615382
Lipoid Proteinosis Of Urbach And Wiethe	Reduced epidermal extracellular matrix protein 1 protein expression, Thickened skin, Hyperkeratosis	OMIM:247100
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Acute Radiation Syndrome	Hypopigmentation of the skin, Inflammatory abnormality of the skin, Skin ulcer, Interstitial pneu...	ORPHA:454831
Darier Disease	Thickened skin, Palmoplantar keratoderma, Hypermelanotic macule, Subungual hyperkeratotic fragmen...	ORPHA:218
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Dry skin, Ichthyosis, Scaling skin, Hyperkeratosis, Congenital nonbullous ichthyosiform...	OMIM:614457
Acne Inversa, Familial, 3	Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation	OMIM:613737
Erythrokeratodermia Variabilis	Erythema, Irregular hyperpigmentation, Hearing impairment, Dry skin, Patchy palmoplantar hyperker...	ORPHA:317
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Palmoplantar keratoderma, Dry skin, Hypomelanotic macule, Freckling, Scaling skin, Hypermelanotic...	OMIM:618373
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Psoriasiform lesion, Malar rash, Cheilitis, Hyperkeratosis	ORPHA:163525
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Darier-White Disease	Hypermelanotic macule, Subungual hyperkeratotic fragments, Acrokeratosis, Acantholysis, Pruritus	OMIM:124200
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Vulvovaginal Gingival Syndrome	Parakeratosis, Epidermal acanthosis, Pruritus, Erythema	ORPHA:83453
Superficial Epidermolytic Ichthyosis	Erythema, Palmoplantar keratoderma, Ichthyosis, Acantholysis, Edema	ORPHA:455
Amyloidosis, Primary Localized Cutaneous, 3	Dry skin, Generalized hyperpigmentation, Hypermelanotic macule	OMIM:617920
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Ichthyosis Vulgaris	Ichthyosis, Absent keratohyalin granules, Eczematoid dermatitis, Dry skin	OMIM:146700
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2435
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati...	OMIM:618061
Hypotrichosis 6	Erythema, Pruritus, Follicular hyperkeratosis	OMIM:607903
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon...	OMIM:614840
Congenital Disorder Of Glycosylation, Type If	Dry skin, Hyperkeratosis, Erythroderma, Scaling skin	OMIM:609180
Basan Syndrome	Cutaneous syndactyly of toes, Palmoplantar keratoderma, Single transverse palmar crease, Epiderma...	OMIM:129200
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hyperkeratotic papule, Mottled pigmentation, Hypermelanotic macule, Hypomelanotic macule, Spotty ...	ORPHA:79397
Cutaneous Mastocytoma	Thickened skin, Erythema, Angioedema, Hypermelanotic macule, Maculopapular exanthema, Hyperpigmen...	ORPHA:79455
Peeling Skin Syndrome 3	Erythema, White scaling skin, Pruritus	OMIM:616265
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Recessive X-Linked Ichthyosis	Dry skin, Hyperkeratosis, Ichthyosis	ORPHA:461
Uv-Sensitive Syndrome 1	Dry skin, Pigmentation anomalies of sun-exposed skin, Freckling	OMIM:600630
Ichthyosis, Congenital, Autosomal Recessive 1	Congenital ichthyosiform erythroderma, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Er...	OMIM:242300
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Lamellar Ichthyosis	Abnormal helix morphology, Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Pruritus,...	ORPHA:313
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperkerat...	OMIM:148700
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hyperpigmentation of the skin, Hypopigmented skin patches	ORPHA:2819
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Lichen Planopilaris	Hepatitis, Hypopigmented skin patches, Skin ulcer, Pruritus, Hyperkeratosis	ORPHA:525
Uv-Sensitive Syndrome 3	Dry skin, Freckling	OMIM:614640
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Abnormal epidermal morphology, Orthokeratosis, Palmoplantar keratoderma, H...	ORPHA:79501
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Pustular rash,...	OMIM:613953
Dowling-Degos Disease	Hyperkeratotic papule, Inguinal freckling, Acne inversa, Hypermelanotic macule, Mixed hypo- and h...	ORPHA:79145
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in fle...	OMIM:601952
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Acral Self-Healing Collodion Baby	Erythema, Palmoplantar scaling skin, Lack of skin elasticity, Edema of the dorsum of hands, Edema...	ORPHA:281127
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Acrokeratosis Verruciformis Of Hopf	Epidermal acanthosis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	ORPHA:79151
Woolly Hair-Skin Fragility Syndrome	Acantholysis, Palmoplantar keratoderma	OMIM:620415
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, Congenital sensorineural hea...	OMIM:619947
Lymphatic Malformation 4	Hyperkeratosis, Pedal edema, Lymphedema	OMIM:615907
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Odontoonychodermal Dysplasia	Erythema, Orthokeratosis, Hypergranulosis, Dry skin, Palmoplantar erythema, Palmoplantar hyperker...	OMIM:257980
Neuropathy, Hereditary Sensory, Type If	Osteomyelitis, Hyperkeratosis	OMIM:615632
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Pruritus, Scaling skin	OMIM:105250
Hepatorenocardiac Degenerative Fibrosis	Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal...	OMIM:619902
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency	OMIM:615987
Familial Benign Chronic Pemphigus	Erythema, Acantholysis, Hyperkeratosis, Skin vesicle	ORPHA:2841
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Mottled pigmentation	OMIM:620199
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Drug-Induced Localized Lipodystrophy	Erythema, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Palmoplantar keratoderma, Ichthyosis, Parakeratosis, Pruritus, Hyperkeratosis	OMIM:615821
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Palmoplantar keratoderma, Focal friction-related palmoplantar hyperkera...	ORPHA:2200
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
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections, Edema	ORPHA:345
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Skin vesicle, Eosinophilia, Ac...	ORPHA:555905
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Plantar hyperkeratosis, Pruritus	OMIM:616487
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis	ORPHA:89843
Sjögren-Larsson Syndrome	Erythema, Dry skin, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Ichthyosi...	ORPHA:816
Moynahan Syndrome	Hyperkeratosis, Sensorineural hearing impairment	ORPHA:2574
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Pemphigus Erythematosus	Acantholysis, Malar rash, Hypopigmented skin patches	ORPHA:79480
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Hyperkeratosis, Cafe-au-lait spot	OMIM:618625
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ...	OMIM:263200
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Ectodermal Dysplasia-Syndactyly Syndrome 2	Follicular hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderm...	OMIM:613576
Night Blindness, Congenital Stationary, Type 1C	Dry skin, Abnormality of skin pigmentation	OMIM:613216
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma	OMIM:615735
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Mottled pigmentation of the trunk and proximal extremities, Punctate palmoplantar hyperkeratosis,...	OMIM:131960
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Folliculitis, Palmoplantar keratoderma, Keratitis, Dry skin, Facial erythema, Follicular hyperker...	OMIM:308800
Irida Syndrome	Hyperkeratosis, Ichthyosis, Pallor	ORPHA:209981
Ectodermal Dysplasia/Skin Fragility Syndrome	Palmoplantar hyperkeratosis, Scaling skin	OMIM:604536
Psoriasis 14, Pustular	Erythema, Psoriasiform dermatitis, Pustule, Parakeratosis, Oligoarthritis, Cholangitis, Epidermal...	OMIM:614204
Congenital Disorder Of Glycosylation, Type Iq	Low-set ears, Eczematoid dermatitis, Dry skin, Ichthyosis, Cutis laxa, Abnormality of skin pigmen...	OMIM:612379
Dermatitis, Atopic	Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Dry skin, Pallor, Ichthyosis, Facial...	OMIM:603165
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Enlarged kidney	OMIM:615285
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Bullous Dystrophy, Hereditary Macular Type	Tapered finger, Hyperpigmentation of the skin, Short finger	OMIM:302000
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Palmoplantar keratoderma, Palmoplantar scaling skin, Palmoplantar erythema, Palmoplantar hyperker...	OMIM:605676
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Singleton-Merten Syndrome 2	Psoriasiform lesion, Hyperkeratosis	OMIM:616298
Palmoplantar Keratoderma And Congenital Alopecia 1	Palmoplantar keratoderma, Palmoplantar erythema, Hyperpigmentation of the skin, Plantar hyperkera...	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	Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren...	OMIM:145001
Palmoplantar Keratoderma, Epidermolytic, 1	Plantar hyperkeratosis, Localized epidermolytic hyperkeratosis, Palmoplantar hyperkeratosis, Palm...	OMIM:144200
Keratoderma Hereditarium Mutilans	Hearing impairment, Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Sensorineural hearing impa...	ORPHA:494
Harlequin Ichthyosis	Congenital ichthyosiform erythroderma, Ichthyosis, Erythroderma, Hyperkeratosis, Dehydration	ORPHA:457
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic...	OMIM:602088
Variegate Porphyria, Childhood-Onset	Atopic dermatitis, Epidermal hyperkeratosis	OMIM:620483
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Kid Syndrome	Prelingual sensorineural hearing impairment, Posterior blepharitis, Psoriasiform dermatitis, Foll...	ORPHA:477
Chilblain Lupus 2	Chilblains	OMIM:614415
Proteus Syndrome	Epidermal acanthosis, Depigmentation/hyperpigmentation of skin, Hyperkeratosis	OMIM:176920
Aicardi-Goutieres Syndrome 5	Dry skin, Chilblains, Scaling skin	OMIM:612952
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Chronic mucocutane...	OMIM:618131
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosifo...	OMIM:606545
Meige Disease	Facial edema, Predominantly lower limb lymphedema, Skin ulcer, Lymphedema, Cobblestone-like hyper...	ORPHA:90186
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Hyperkeratosis	OMIM:618339
Tietz Albinism-Deafness Syndrome	Congenital sensorineural hearing impairment, Heterochromia iridis, White eyebrow, White eyelashes...	OMIM:103500
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia	OMIM:614859
Ectodermal Dysplasia/Short Stature Syndrome	Epidermal acanthosis, Palmoplantar keratoderma, Hyperkeratosis, Sensorineural hearing impairment	OMIM:616029
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma...	ORPHA:85445
Peeling Skin Syndrome 1	Eosinophilia, Pruritus, Erythroderma, Scaling skin	OMIM:270300
Hypotrichosis With Juvenile Macular Degeneration	Melanocytic nevus, Hyperkeratosis, Freckling	ORPHA:1573
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Diffuse palmoplantar hyperkeratosis, Hypopigmentation of the skin	OMIM:617294
Milroy Disease	Predominantly lower limb lymphedema, Erysipelas, Lymphedema, Hyperkeratosis, Pedal edema	ORPHA:79452
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries	ORPHA:90301
Hypertrichosis Lanuginosa Congenita	Hearing impairment, Abnormality of skin pigmentation	ORPHA:2222
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, Sensorineural hearing impairment, White eyebrow, ...	OMIM:227010
Flynn-Aird Syndrome	Hyperkeratosis, Progressive sensorineural hearing impairment	OMIM:136300
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Orthokeratosis, Congenital ichthyosiform erythroderma, Hearing impairment, Parakeratosi...	OMIM:308050
Chronic Actinic Dermatitis	Allergic rhinitis, Hypopigmented skin patches, Eczematoid dermatitis, Progressive hyperpigmentati...	ORPHA:330064
Yemenite Deaf-Blind Hypopigmentation Syndrome	Severe sensorineural hearing impairment, White forelock, Numerous pigmented freckles, Patchy hypo...	OMIM:601706
Diffuse Cutaneous Mastocytosis	Thickened skin, Erythroderma, Scaling skin, Pruritus, Mixed hypo- and hyperpigmentation of the sk...	ORPHA:79456
Ichthyosis Bullosa Of Siemens	Congenital bullous ichthyosiform erythroderma	OMIM:146800
Lipoid Proteinosis	Pustule, Thickened skin, Hyperkeratosis, Acne	ORPHA:530
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Renal cyst, Neonatal death	OMIM:614870
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges...	ORPHA:2513
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Ectodermal Dysplasia-Skin Fragility Syndrome	Cheilitis, Recurrent pneumonia, Palmoplantar keratoderma, Chapped lip, Recurrent skin infections,...	ORPHA:158668
Ichthyosis, Congenital, Autosomal Recessive 2	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Hypergranulosis, Epide...	OMIM:242100
Kerion Celsi	Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form...	ORPHA:499
Leopard Syndrome 3	Low-set ears, Multiple lentigines, Few cafe-au-lait spots, Dry skin, Sensorineural hearing impair...	OMIM:613707
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Congenital sensorineural hearing impairment, Pal...	ORPHA:2698
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Xerostomia, Dry skin, Ichthyosis, Sensorineural hearing impairment, Parakeratosis, Acanthosis nig...	OMIM:618527
Bardet-Biedl Syndrome 16	Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia	OMIM:615993
Noonan Syndrome 8	Low-set ears, Eczematoid dermatitis, Pleural effusion, Palmoplantar cutis laxa, Hyperpigmentation...	OMIM:615355
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ...	OMIM:613095
Netherton Syndrome	Allergic rhinitis, Eczematoid dermatitis, Angioedema, Hypernatremic dehydration, Hypereosinophili...	OMIM:256500
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Palmoplantar keratoderma, Finger syndactyly, Hypopigmented skin patches, Short thumb, Camptodacty...	ORPHA:2251
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Pallor	ORPHA:2786
Ramon Syndrome	Sensorineural hearing impairment, Hyperkeratosis, Abnormality of retinal pigmentation, Conductive...	ORPHA:3019
Lymphatic Malformation 12	Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Polyhydramnios, Hyperkeratosis	OMIM:620014
Chromomycosis	Hyperkeratotic papule, Predominantly lower limb lymphedema, Keratitis, Hypopigmented skin patches...	ORPHA:182
Schopf-Schulz-Passarge Syndrome	Dry skin, Palmoplantar keratoderma, Hyperkeratosis	OMIM:224750
Centrifugal Lipodystrophy	Erythema, Inflammatory abnormality of the skin, Lymphadenitis, Scaling skin	ORPHA:90156
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Joint swelling, Skin rash, Pustule, Epidermal acanthosis, Hyperkeratosis, Stomatitis	OMIM:612852
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Medullary cystic kidney disease 2	Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu...	OMIM:603860
Pemphigus Vulgaris	Acantholysis, Recurrent cutaneous abscess formation	ORPHA:704
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Sensorineural hearing ...	ORPHA:998
Chronic Mucocutaneous Candidiasis	Erythema, Hepatitis, Skin ulcer, Skin rash, Pruritus, Cheilitis, Hyperkeratosis	ORPHA:1334
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
Ichthyosis, Congenital, Autosomal Recessive 11	Blepharitis, Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:602400
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Palmoplantar keratoderma, Eczematoid dermatitis, Dry skin, Pruritus, Blepharitis	OMIM:618535
Transgrediens Et Progrediens Palmoplantar Keratoderma	Thickened skin, Diffuse palmoplantar hyperkeratosis, Recurrent cutaneous fungal infections, Angul...	ORPHA:495
Hereditary Sensory And Autonomic Neuropathy Type 1	Hearing impairment, Skin ulcer, Penetrating foot ulcers, Osteomyelitis, Hyperkeratosis	ORPHA:36386
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Congenital Ichthyosiform Erythroderma	Palmoplantar keratoderma, Hearing impairment, Keratitis, Ichthyosis, Erythroderma, 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 otitis media, Recurrent pneumonia, Skin rash	OMIM:617585
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis, Sensorineural hearing impairment	ORPHA:300179
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency	ORPHA:1909
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Prolidase Deficiency	Erythema, Palmoplantar keratoderma, Hearing impairment, Skin ulcer, Dry skin, White forelock, Abn...	ORPHA:742
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Hidrotic Ectodermal Dysplasia	Hyperkeratotic papule, Thickened skin, Palmoplantar keratoderma, Hearing impairment, Cobblestone-...	ORPHA:189
Mpdu1-Cdg	Ichthyosis, Eczematoid dermatitis, Scaling skin	ORPHA:79323
Palmoplantar Carcinoma, Multiple Self-Healing	Palmoplantar keratoderma, Chronic rhinitis, Parakeratosis, Follicular hyperkeratosis, Epidermal a...	OMIM:615225
Hypotrichosis And Recurrent Skin Vesicles	Angular cheilitis, Epidermal acanthosis, Follicular hyperkeratosis, Skin vesicle	OMIM:613102
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Nephroblastoma	OMIM:618272
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks	OMIM:614323
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Congenital Disorder Of Glycosylation, Type Im	Dry skin, Inflammatory abnormality of the skin, Hyperkeratosis, Ichthyosis	OMIM:610768
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Ichthyosis, Low-set, posteriorly rotated ears, Eczematoid dermatitis	ORPHA:3055
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s...	ORPHA:753
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis	ORPHA:3033
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Thickened skin, Hypopigmentation of the skin, Ocular albinism, Freckling, ...	ORPHA:79431
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan...	ORPHA:31205
Warty Dyskeratoma	Acrokeratosis, Acantholysis, Epidermal thickening	ORPHA:69745
Hidrotic Ectodermal Dysplasia, Halal Type	Protruding ear, Multiple cafe-au-lait spots, Follicular hyperkeratosis, Hearing impairment	ORPHA:1809
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Sensori...	OMIM:193510
Xeroderma Pigmentosum Variant	Freckles in sun-exposed areas, Dry skin, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90342
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Stillbirth, Hepatomegaly, Enlarged kidney, Cystic renal dysplasia	OMIM:615415
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	Hyperkeratosis, Hearing impairment, Lymphedema	ORPHA:79279
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy...	OMIM:231680
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Xerostomia, Eczematoid dermati...	ORPHA:238468
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ...	OMIM:143400
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Eczematoid dermatitis, Dry skin, Generalized keratosis follicularis, Ab...	ORPHA:2890
Autoinflammation With Arthritis And Dyskeratosis	Dry skin, Hypereosinophilia, Punctate keratitis, Keratoconjunctivitis sicca, Palmoplantar hyperke...	OMIM:617388
Poikiloderma With Neutropenia	Recurrent pneumonia, Palmoplantar keratoderma, Recurrent otitis media, Skin rash, Reticular hyper...	OMIM:604173
Femoral-Facial Syndrome	Abnormal localization of kidney, Long penis, Polycystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:1988
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Hypopigmentation of the skin	OMIM:610798
Idiopathic Trachyonychia	Atopic dermatitis, Vitiligo, Circumungual hyperkeratosis, Ichthyosis	ORPHA:79153
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
X-Linked Dominant Chondrodysplasia Punctata	Low-set ears, Ichthyosis, Sensorineural hearing impairment, Erythroderma, Scaling skin, Abnormal ...	ORPHA:35173
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis, Sensorineural hearing impairment	ORPHA:1883
Ectodermal Dysplasia-Blindness Syndrome	Hearing impairment, Skin ulcer, Protruding ear, Keratoconjunctivitis sicca, Abnormality of skin p...	ORPHA:1806
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He...	OMIM:614817
Neonatal Lupus Erythematosus	Malar rash, Skin rash, Parakeratosis, Maculopapular exanthema, Hyperkeratosis	ORPHA:398124
Bardet-Biedl Syndrome 4	Renal cyst, Abnormality of the kidney	OMIM:615982
Amelo-Onycho-Hypohidrotic Syndrome	Dry skin, Hyperkeratosis	ORPHA:1028
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Fasciitis, Acute hepatitis, Chronic hepatitis, M...	ORPHA:39812
Pachyonychia Congenita 3	Palmoplantar keratoderma, Chapped lip, Follicular hyperkeratosis, Palmar hyperkeratosis, Plantar ...	OMIM:615726
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Enterocolitis, Hyperkeratosis, Hearing impairment	OMIM:301108
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Renal-Hepatic-Pancreatic Dysplasia 1	Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Hepatic cysts, Ureteral atresi...	OMIM:208540
Huriez Syndrome	Epidermal acanthosis, Congenital palmoplantar hyperkeratosis	OMIM:181600
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Hyperkeratotic papule, Pruritus, Skin vesicle	ORPHA:79410
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy, Freckling	ORPHA:1547
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Palmoplantar keratoderma, Dry skin, Facial erythema, Scaling skin, Unilateral deafness, Sclerodac...	ORPHA:1010
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Bacterial Toxic-Shock Syndrome	Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Infectious encephalitis, Myositis, Myo...	ORPHA:36234
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Intermediate Generalized Junctional Epidermolysis Bullosa	Palmoplantar keratoderma, Abnormality of skin pigmentation	ORPHA:79402
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Purpura, Skin ulcer, Abnormality of skin pigmentation	ORPHA:743
Hydroa Vacciniforme	Papulovesicular eruption, Erythema, Keratitis, Eczematoid dermatitis, Malar rash, Superficial der...	ORPHA:330058
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Purpura, Abnormality of skin pigmentation	ORPHA:745
Quinquaud Folliculitis Decalvans	Pustule, Erythema, Recurrent skin infections	ORPHA:346
X-Linked Sideroblastic Anemia	Hyperpigmentation of the skin, Pallor	ORPHA:75563
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Limited Cutaneous Systemic Sclerosis	Joint contracture of the hand, Skin ulcer, Hypopigmented skin patches, Abnormality of skin pigmen...	ORPHA:220402
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Folliculitis, Palmoplantar keratoderma, Keratitis, Facial erythema, Conjunctivitis, Blepharitis	OMIM:612843
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Sézary Syndrome	Irregular hyperpigmentation, Palmoplantar keratoderma, Dry skin, Erythroderma, Pruritus, Edema	ORPHA:3162
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr...	OMIM:614377
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren...	OMIM:614700
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Reticular hyperpigmentation, Generalized reticulate brown pigmentation, Coli...	OMIM:301220
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cystic renal dysplasia, Neonatal death	OMIM:613730
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly	OMIM:608776
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit...	OMIM:608971
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Eczematoid dermatitis, Psoriasiform dermatitis, Erythroderma, Scaling skin, Thyroiditis, Chronic ...	OMIM:606367
Odontochondrodysplasia 1	Nephronophthisis, Polycystic kidney dysplasia	OMIM:184260
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Follicular hyperkeratosis	ORPHA:486815
Dracunculiasis	Skin ulcer, Skin rash, Arthritis, Pruritus, Recurrent cutaneous abscess formation	ORPHA:231
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism...	OMIM:308750
Epidermodysplasia Verruciformis, Susceptibility To, 3	Palmar pits, Epidermal acanthosis	OMIM:618267
Pressure-Induced Localized Lipoatrophy	Erythema, Inflammatory abnormality of the skin	ORPHA:90160
Elastoderma	Cutis laxa, Eczematoid dermatitis, Erysipelas, Premature skin wrinkling	ORPHA:228240
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Enlarged kidney, Neonatal death	OMIM:314390
Erythema Nodosum, Familial	Erythema, Erythema nodosum	OMIM:132990
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia	OMIM:263210
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Unilateral renal agenesis, Decreased serum testosterone concentration, Decreased t...	OMIM:308700
Pachyonychia Congenita 2	Angular cheilitis, Subungual hyperkeratosis, Folliculitis, Palmoplantar hyperkeratosis	OMIM:167210
Costello Syndrome	Low-set, posteriorly rotated ears, Large earlobe, Generalized hyperpigmentation, Redundant skin, ...	ORPHA:3071
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico...	OMIM:113650
Erosive Pustular Dermatosis Of The Scalp	Pustule, Erythema	ORPHA:222
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Crusting erythematous dermatitis, Erythema, Palmoplantar hyperkeratosis	ORPHA:158673
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis	OMIM:260910
Paget Disease, Extramammary	Eczematoid dermatitis	OMIM:167300
Recon Progeroid Syndrome	Dry skin, Long thumb, Arachnodactyly, Attached earlobe, Scaling skin, Proximal placement of thumb...	OMIM:620370
Trisomy 17P	Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis	ORPHA:261290
Self-Improving Dystrophic Epidermolysis Bullosa	Abnormality of skin pigmentation	ORPHA:79411
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Pustule, Polyhydramnios, Epidermal acanthosis, Dehydration	OMIM:616069
Lethal Acantholytic Erosive Disorder	Acantholysis, Oligohydramnios, Abnormal pinna morphology, Abnormal helix morphology	ORPHA:158687
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epithelial necrosis...	ORPHA:157
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst	OMIM:614091
46,Xx Sex Reversal 4	Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias...	OMIM:617480
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis	OMIM:615279
Epidermolysis Bullosa, Lethal Acantholytic	Acantholysis	OMIM:609638
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal insufficiency, Cardiomegaly, Hydronephrosis, Long-chain dicarboxylic aciduria, Hepatomegaly...	OMIM:608836
46,Xy Sex Reversal 10	Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t...	OMIM:616425
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Porphyria Cutanea Tarda	Hypopigmentation of the skin, Cutaneous abscess, Hyperpigmentation of the skin, Scaling skin, Chr...	ORPHA:101330
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis,...	OMIM:618282
Trichothiodystrophy 1, Photosensitive	Dry skin, Protruding ear, Keratoconjunctivitis sicca, Erythroderma, Freckling, Hyperkeratosis, Co...	OMIM:601675
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Naxos Disease	Subungual hyperkeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Epiderma...	OMIM:601214
Phenylketonuria	Fair hair, Eczematoid dermatitis, Dry skin, Scleroderma, Blue irides, Generalized hypopigmentation	OMIM:261600
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ...	OMIM:194080
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Keratitis, Ichthyosis, Sensorineural hearing impairment, Keratoconjunctivitis sicca, Hyperkeratos...	OMIM:148210
Distal Triplication 15Q	Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ...	ORPHA:314588
Terminal Osseous Dysplasia	Low-set ears, Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg s...	OMIM:300244
Isolated Polycystic Liver Disease	Hepatomegaly, Multiple renal cysts	ORPHA:2924
Familial Melanoma	Dry skin, Freckling	ORPHA:618
Neonatal Inflammatory Skin And Bowel Disease	Erythema, Chapped lip, Psoriasiform dermatitis, Pustule, Scaling skin, Recurrent bacterial skin i...	ORPHA:294023
Diaphanospondylodysostosis	Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia	OMIM:608022
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
Genitopalatocardiac Syndrome	Renal cyst, Hypospadias	OMIM:231060
Joubert Syndrome 20	Renal cyst	OMIM:614970
Spastic Paraplegia 23, Autosomal Recessive	Multiple lentigines, Premature graying of body hair, Vitiligo, Scapular winging, Hyperpigmentatio...	OMIM:270750
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Cardiomegaly, Hepatomegaly, Myoglobi...	ORPHA:228308
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Dermal translucency, Lymphedema, Nonimmune hydrops fetalis, Freckling, Membranoproliferative glom...	OMIM:137940
Mycetoma	Osteomyelitis, Cobblestone-like hyperkeratosis, Recurrent bacterial skin infections	ORPHA:2583
Bullous Impetigo	Pustule, Erythema, Septic arthritis, Recurrent bacterial skin infections	ORPHA:36237
Tyrosinemia Type 2	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:28378
Nephronophthisis 9	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts	OMIM:613824
Deafness, Congenital, With Vitiligo And Achalasia	Vitiligo, Hearing impairment	OMIM:221350
Fanconi Anemia, Complementation Group O	Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Neonatal death	OMIM:613390
Reactive Arthritis	Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stomatitis, Joint swelling...	ORPHA:29207
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Low-set ears, Hyperkeratosis	ORPHA:163966
Pachyonychia Congenita	Palmoplantar keratoderma, Linear arrays of macular hyperkeratoses in flexural areas, Angular chei...	ORPHA:2309
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Hydromyelia, Keratitis, Eczematoid dermatitis,...	OMIM:308205
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Absence Of Fingerprints-Congenital Milia Syndrome	Thickened skin, Skin rash	ORPHA:1658
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal helix morphology, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Icht...	ORPHA:1005
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Lacticaciduria, Hepatomegaly, Polycystic kidney dys...	ORPHA:26791
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Sacroiliac arthritis, Malar rash, Psoriasiform dermatitis, Skin rash, Psoriasiform lesio...	ORPHA:85436
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Thickened skin, Chylothorax, Erysipelas, Skin ulcer, Lymphedema, Dry skin, Pleural effusion, Abno...	ORPHA:2526
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Polysyndactyly With Cardiac Malformation	Renal cyst, Hepatic cysts, Stillbirth	OMIM:263630
Panniculitis-Induced Localized Lipodystrophy	Erythema, Inflammatory abnormality of the skin	ORPHA:90159
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal cyst, Renal insufficiency	OMIM:611773
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Bilateral sensorineural hearing impairment, Skin rash, Progressive hearing impairment	OMIM:124950
Say Syndrome	Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Netherton Syndrome	Irregular hyperpigmentation, Eczematoid dermatitis, Dry skin, Skin rash, Ichthyosis, Acanthosis n...	ORPHA:634
Chilblain Lupus 1	Skin ulcer, Chilblains	OMIM:610448
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Papillon-Lefèvre Syndrome	Palmoplantar keratoderma, Hypopigmented skin patches, Periodontitis, Pustule, Chronic furunculosi...	ORPHA:678
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Alagille Syndrome 2	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria	OMIM:610205
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Donohue Syndrome	Low-set ears, Acanthosis nigricans, Hypermelanotic macule, Hyperkeratosis, Macrotia	OMIM:246200
Myoectodermal Gonadal Dysgenesis Syndrome	Low-set ears, Bifid distal phalanx of toe, Dry skin, Cutaneous finger syndactyly, Limited elbow e...	OMIM:618419
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic...	OMIM:617303
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia, Aminoaciduria	OMIM:214110
Arima Syndrome	Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R...	OMIM:243910
Albinism-Deafness Syndrome	Ocular albinism, Congenital sensorineural hearing impairment, Piebald skin depigmentation, Albini...	OMIM:300700
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria	ORPHA:251004
Axial Osteomalacia	Renal cyst	OMIM:109130
Congenital Disorder Of Glycosylation, Type Iil	Dry skin, Inflammation of the large intestine, Hyperkeratosis, Peau d'orange	OMIM:614576
Porphyria Cutanea Tarda, Type I	Hyperpigmentation of the skin, Eczematoid dermatitis	OMIM:176090
Joubert Syndrome 39	Polycystic kidney dysplasia	OMIM:619562
Gaucher Disease, Perinatal Lethal	Low-set ears, Ascites, Ichthyosis, Petechiae, Nonimmune hydrops fetalis, Purpura, Polyhydramnios,...	OMIM:608013
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney	OMIM:613091
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Psoriasiform lesion, Erythroderma	ORPHA:169154
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Renal dysplasia	OMIM:236500
Congenital Syphilis	Pneumonia, Keratitis, Hearing impairment, Palmoplantar scaling skin, Petechiae, Maculopapular exa...	ORPHA:499009
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:617866
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Hypopigmentation of the skin, Short 1st metacarpal, Short first m...	OMIM:601957
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cyst, Renal cell carcinoma	OMIM:135150
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Peroxisome Biogenesis Disorder 11A (Zellweger)	Renal cyst, Multiple renal cysts	OMIM:614883
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei...	OMIM:232200
Bullous Diffuse Cutaneous Mastocytosis	Profuse pigmented skin lesions	ORPHA:280785
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic...	ORPHA:2237
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Hypopigmentation of the skin, Interphalangeal joint contracture of fing...	ORPHA:69087
Lymphatic Filariasis	Predominantly lower limb lymphedema, Lymphadenitis, Lymphedema, Hypereosinophilia, Orchitis, Knee...	ORPHA:2035
Van Den Bosch Syndrome	Acrokeratosis, Recurrent skin infections	ORPHA:3417
Sialidosis Type 1	Hyperkeratosis, Sensorineural hearing impairment	ORPHA:812
C1Q Deficiency 2	Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Facial erythema, Arthritis, B...	OMIM:620321
Cutaneous Small Vessel Vasculitis	Erythema, Recurrent skin infections, Purpura, Skin rash	ORPHA:889
Kindler Epidermolysis Bullosa	Cheilitis, Inflammation of the large intestine, Erythema, Palmoplantar keratoderma, Periodontitis...	ORPHA:2908
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Erythema, Eczematoid dermatitis, Redundant skin, Seborrheic dermatitis, Palmoplantar hyperkeratos...	OMIM:259100
Lymphatic Malformation 3	Recurrent skin infections, Lymphedema	OMIM:613480
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Neonatal death, Renal cyst, Stillb...	OMIM:614922
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Atopic dermatitis, Recurrent skin infections, Cutaneous abscess	OMIM:618944
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Vitiligo, Sensorineural hearing impairment...	ORPHA:3437
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Hepatitis, Erythema nodosum, Colitis, Recurren...	OMIM:300635
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Tinnitus, Hyperkeratosis, Hearing impairment, Lymphedema	ORPHA:79280
Mycosis Fungoides	Pruritus, Psoriasiform dermatitis, Eczematoid dermatitis, Erythema	OMIM:254400
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit...	OMIM:232220
Bardet-Biedl Syndrome 6	Renal cyst, Hypospadias	OMIM:605231
Incontinentia Pigmenti	Erythema, Keratitis, Pallor, Eosinophilia, Abnormality of skin pigmentation, Maculopapular exanth...	OMIM:308300
Kanzaki Disease	Lymphedema, Dry skin, Petechiae, Sensorineural hearing impairment, Hyperkeratosis	OMIM:609242
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Enlarged kidney, Cystic renal dysplasia	OMIM:200995
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Pancreatic cysts, Enlarged kidney	ORPHA:464329
Reynolds Syndrome	Irregular hyperpigmentation, Xerostomia, Skin ulcer, Ascites, Skin rash, Infectious encephalitis,...	ORPHA:779
Cardiofaciocutaneous Syndrome	Palmoplantar keratoderma, Lymphedema, Low-set, posteriorly rotated ears, Multiple lentigines, Dry...	ORPHA:1340
Phelan-Mcdermid Syndrome	Vesicoureteral reflux, Polycystic kidney dysplasia, Abnormality of the kidney	OMIM:606232
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:251270
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Posteriorly rotated ears, Hyperkeratosis	OMIM:620189
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Hearing impairment, Keratoconj...	OMIM:158310
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Splenomegaly, Renal cyst, Hepatomegaly, Pancreatic cysts, Polycystic kidney dysplasia	OMIM:610199
Glucocorticoid Deficiency 3	Hyperpigmentation of the skin	OMIM:609197
Noonan Syndrome 10	Low-set ears, Increased nuchal translucency, Pleural effusion, Palmoplantar cutis laxa, Hyperpigm...	OMIM:616564
Incontinentia Pigmenti	Erythema, Irregular hyperpigmentation, Keratitis, Hypopigmented skin patches, Skin ulcer, Skin ra...	ORPHA:464
Trichorhinophalangeal Syndrome, Type Iii	Protruding ear, Epidermal hyperkeratosis	OMIM:190351
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Abnormality of skin pigmentation	OMIM:225050
Restrictive Dermopathy	Low-set ears, Generalized hyperkeratosis, Scaling skin, Polyhydramnios, Dermal translucency, Epid...	ORPHA:1662
Interstitial Granulomatous Dermatitis With Arthritis	Rheumatoid arthritis, Pruritus, Inflammatory abnormality of the skin, Erythema	ORPHA:79099
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hepatosplenomegaly, Splenomegaly, Renal cyst, Hepatomegaly, Polycystic kidney dysplasia, Hypospad...	OMIM:614866
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Low-set ears, Eczematoid dermatitis, Multiple lentigines, Ichthyosis, Posteriorly rotated ears, H...	OMIM:607721
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas...	OMIM:130650
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia	ORPHA:1166
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Joubert Syndrome 7	Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611560
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Arthritis, Pyoderma gangrenosum, Colitis, Sterile arthritis, Cystic acne, Acne	OMIM:604416
Atelis Syndrome 1	Irregular hyperpigmentation, Eczematoid dermatitis, Dry skin, Glue ear, Cafe-au-lait spot, Bronch...	OMIM:620184
Papa Syndrome	Skin ulcer, Crohn's disease, Pustule, Increased inflammatory response, Myositis, Arthritis, Acne	ORPHA:69126
Free Sialic Acid Storage Disease	Iris hypopigmentation, Skin ulcer, Abnormality of the upper limb, Abnormality of skin pigmentation	ORPHA:834
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Palmoplantar keratoderma, Premature graying of hair, Lack of skin elasticity, Abnormality of skin...	ORPHA:1979
Immunodeficiency 66	Pustule, Recurrent skin infections	OMIM:618847
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Restrictive Dermopathy 1	Low-set ears, Oligohydramnios, Scaling skin, Polyhydramnios, Epidermal hyperkeratosis	OMIM:275210
Joubert Syndrome 18	Horseshoe kidney, Renal cyst	OMIM:614815
Large Congenital Melanocytic Nevus	Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormality of skin pigmentation	ORPHA:626
Mckusick-Kaufman Syndrome	Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula	OMIM:236700
Reticular Dysgenesis	Skin ulcer, Hearing impairment, Skin rash, Chronic otitis media, Dehydration	ORPHA:33355
Inflammatory Bowel Disease 28, Autosomal Recessive	Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis	OMIM:613148
Isolated Agammaglobulinemia	Pneumonia, Skin ulcer, Skin rash, Otitis media, Arthritis, Sinusitis, Inflammatory abnormality of...	ORPHA:229717
Tyrosinemia, Type I	Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Splenomegaly, Rena...	OMIM:276700
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of skin pigmentation	ORPHA:1810
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hearing impairment, Abnormality of skin pigmentation	ORPHA:457260
Branchiogenic Deafness Syndrome	Short distal phalanx of finger, Conductive hearing impairment, Atresia of the external auditory c...	ORPHA:50815
Cutaneous Collagenous Vasculopathy	Petechiae, Erythema, Pruritus, Skin rash	ORPHA:280779
Ullrich Congenital Muscular Dystrophy 1A	Protruding ear, Follicular hyperkeratosis	OMIM:254090
Grubben-De Cock-Borghgraef Syndrome	Dry skin, Eczematoid dermatitis	ORPHA:2101
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Protoporphyria, Erythropoietic, 1	Erythema, Pruritus, Eczematoid dermatitis, Edema	OMIM:177000
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections	OMIM:618161
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly	OMIM:610644
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
15q26 overgrowth syndrome	Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro...	DECIPHER:81
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re...	ORPHA:731
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o...	ORPHA:449395
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
Caroli Disease	Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly	ORPHA:53035
Cardiofaciocutaneous Syndrome 1	Low-set ears, Atopic dermatitis, Hearing impairment, Multiple lentigines, Large earlobe, Anterior...	OMIM:115150
Hatipoglu Immunodeficiency Syndrome	Hyperpigmented/hypopigmented macules, Atopic dermatitis, Thickened skin, Eczematoid dermatitis, F...	OMIM:620331
Riddle Syndrome	Pneumonia, Erythema, Recurrent pneumonia, Otitis media, Recurrent sinusitis, Chronic sinusitis, A...	ORPHA:420741
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Enlarged kidney, Ovarian cyst	OMIM:618188
Xeroderma Pigmentosum	Thickened skin, Erythema, Keratitis, Hypopigmented skin patches, Hearing impairment, Dry skin, Me...	ORPHA:910
Werner Syndrome	Skin ulcer, Premature graying of hair, White forelock, Abnormality of retinal pigmentation, Lack ...	ORPHA:902
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero...	ORPHA:325124
Bone Marrow Failure Syndrome 3	Cupped ear, Eczematoid dermatitis, Hearing impairment, Hypomelanotic macule, Hyperkeratosis	OMIM:617052
Hemihyperplasia-Multiple Lipomatosis Syndrome	Ovarian serous cystadenoma, Enlarged kidney, Nephroblastoma	ORPHA:276280
Meckel Syndrome 14	Polycystic kidney dysplasia	OMIM:619879
Autosomal Erythropoietic Protoporphyria	Erythema, Pruritus, Eczematoid dermatitis, Edema	ORPHA:79278
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the...	ORPHA:2970
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Thickened skin, Hypopigmentation of the skin, Ocular albinism, Partial alb...	ORPHA:79430
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Abnormal pinna morphology, Arthritis, Sinusi...	ORPHA:33110
Bone Marrow Failure Syndrome 4	Low-set ears, Dry skin, Eczematoid dermatitis	OMIM:618116
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent sinusitis, Pyoderma gangrenosum, Recurrent ski...	OMIM:616576
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism	OMIM:614171
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Arthrogryposis And Ectodermal Dysplasia	Dry skin, Hyperkeratosis	OMIM:601701
H Syndrome	Micropenis, Hepatosplenomegaly, Enlarged kidney, Abnormality of the kidney	ORPHA:168569
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation	OMIM:613988
Tuberous Sclerosis Complex	Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Renal...	ORPHA:805
Endocrine-Cerebroosteodysplasia	Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys	OMIM:612651
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ...	OMIM:203300
Fucosidosis	Hearing impairment, Generalized hyperkeratosis	ORPHA:349
Necrobiosis Lipoidica	Erythema, Inflammatory abnormality of the skin, Skin ulcer	ORPHA:542592
Ige Responsiveness, Atopic	Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Toxic Epidermal Necrolysis	Erythema, Skin ulcer, Pancreatitis, Conjunctivitis, Acantholysis	ORPHA:537
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Subcorneal Pustular Dermatosis	Erythema, Rheumatoid arthritis, Pustule, Hyperpigmentation of the skin, Pruritus	ORPHA:48377
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ...	ORPHA:2973
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperpigmentation of the skin	OMIM:613743
Meacham Syndrome	Horseshoe kidney, Stillbirth, Enlarged kidney, Neonatal death	OMIM:608978
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heav...	ORPHA:505248
Erythema Elevatum Diutinum	Skin vesicle, Skin rash	ORPHA:90000
Epidermodysplasia Verruciformis	Hypopigmented skin patches, Pustule, Seborrheic dermatitis, Multiple cafe-au-lait spots, Recurren...	ORPHA:302
Ramon Syndrome	Juvenile rheumatoid arthritis, Pigmentary retinopathy, Hyperkeratosis, Hearing impairment	OMIM:266270
Bethlem Muscular Dystrophy	Hyperkeratosis	ORPHA:610
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation	OMIM:240200
Noonan Syndrome 2	Low-set ears, Melanocytic nevus, Increased nuchal translucency, Redundant neck skin, Nonimmune hy...	OMIM:605275
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hypopigmented skin patches, Hepatitis, Skin ulcer, Osteomyelitis, Skin rash,...	ORPHA:47
Familial Adenomatous Polyposis 4	Renal cyst, Ovarian cyst	OMIM:617100
Acrorenal-Mandibular Syndrome	Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder	OMIM:200980
Cranio-Osteoarthropathy	Mottled pigmentation, Eczematoid dermatitis, Joint swelling, Osteoarthritis, Arthritis	ORPHA:1525
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Orofaciodigital Syndrome I	Hepatic cysts, Ovarian cyst, Proteinuria, Pancreatic cysts, Polycystic kidney dysplasia	OMIM:311200
Stevens-Johnson Syndrome	Conjunctivitis, Acantholysis, Pancreatitis, Erythema	ORPHA:36426
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micropenis, Polycystic kidney dysplasia	OMIM:616546
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni...	OMIM:216360
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Syndromic Diarrhea	Hepatomegaly, Renal hypoplasia, Polycystic kidney dysplasia, Splenomegaly	ORPHA:84064
Pachydermoperiostosis	Thickened skin, Palmoplantar keratoderma, Eczematoid dermatitis, Osteomyelitis, Joint swelling, S...	ORPHA:2796
Distal Deletion 12Q	Congenital hypertrophy of left ventricle, Vesicoureteral reflux, Hydronephrosis, Ectopic kidney, ...	ORPHA:96149
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Skin rash, Sensorineural hearing impairment, Arthritis, Erythema n...	OMIM:611762
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Arachnodactyly, Long toe, Cutis laxa, Abnormality of skin pigmentation, Palmoplantar cutis gyrata	ORPHA:75496
Inflammatory Skin And Bowel Disease, Neonatal, 1	Blepharitis, Perioral erythema, Pustule, Erythroderma, Perianal erythema	OMIM:614328
Drug Reaction With Eosinophilia And Systemic Symptoms	Erythema, Hepatitis, Angioedema, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pu...	ORPHA:139402
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Polycystic ovarie...	ORPHA:79259
Alg9-Cdg	Hypoplasia of the bladder, Abnormal renal artery morphology, Hepatic cysts, Hydronephrosis, Hepat...	ORPHA:79328
Eec Syndrome	Blepharitis, Xerostomia, Keratitis, Dry skin, Sensorineural hearing impairment, Generalized hypop...	ORPHA:1896
Hereditary Acrokeratotic Poikiloderma	Erythema, Irregular hyperpigmentation, Xerostomia, Eczematoid dermatitis, Hearing impairment, Hyp...	ORPHA:2907
Fixed Drug Eruption	Crusting erythematous dermatitis, Erythema, Hyperpigmentation of the skin, Stomatitis	ORPHA:293812
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Eosinophilia, Recurrent skin infections, Eosinophilic infiltration of the esop...	OMIM:620532
Bullous Pemphigoid	Pruritus, Psoriasiform dermatitis, Eczematoid dermatitis, Erythema	ORPHA:703
Verheij Syndrome	Renal cyst, Renal hypoplasia, Renal agenesis	OMIM:615583
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, Hearing impairment	OMIM:615510
Muckle-Wells Syndrome	Progressive sensorineural hearing impairment, Recurrent aphthous stomatitis, Episcleritis, Ichthy...	ORPHA:575
Kawasaki Disease	Hepatitis, Skin rash, Cholecystitis, Palmoplantar erythema, Arthritis, Scaling skin on fingertip,...	ORPHA:2331
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614862
Hajdu-Cheney Syndrome	Hypospadias, Polycystic kidney dysplasia, Renal cyst	OMIM:102500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent otitis media, Recurrent pneumonia, Inflammatory abnormality of the skin, Sinusitis	ORPHA:277
Dermatitis Herpetiformis	Erythema, Eczematoid dermatitis, Skin vesicle, Pruritus, Edema	ORPHA:1656
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Low-set ears, Atopic dermatitis, Fetal ascites, Erythema, Recurrent otitis media, Few cafe-au-lai...	OMIM:619503
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop...	OMIM:137920
Bazex-Dupre-Christol Syndrome	Atopic dermatitis, Hyperpigmentation of the skin, Acne inversa, Eczematoid dermatitis	OMIM:301845
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney	ORPHA:500095
Mucolipidosis Ii Alpha/Beta	Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enlarged kidney	OMIM:252500
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Low-set ears, Sandal gap, Brachydactyly, Abnormality of skin pigmentation	ORPHA:2180
Hemochromatosis, Type 1	Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m...	OMIM:235200
Warburg-Cinotti Syndrome	Low-set ears, Erythema, Hypoplasia of the ear cartilage, Conductive hearing impairment, Atresia o...	OMIM:618175
Meckel Syndrome, Type 10	Micropenis, Renal cyst, Hypospadias	OMIM:614175
Hypocomplementemic Urticarial Vasculitis	Irregular hyperpigmentation, Angioedema, Ascites, Pleural effusion, Skin rash, Episcleritis, Sens...	ORPHA:36412
Wolfram Syndrome 1	Hydroureter, Hydronephrosis, Hypothyroidism, Neurogenic bladder, Testicular atrophy, Diabetes ins...	OMIM:222300
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce...	OMIM:243700
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan...	ORPHA:324964
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia	OMIM:263520
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Hypopigmentation of the skin, Inflammatory abnormality of the skin, Xerostomia, Kerati...	ORPHA:95455
Phoar2-Enteropathy Syndrome	Thickened skin, Seborrheic dermatitis, Acne	OMIM:614441
Nephronophthisis 11	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:613550
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia	OMIM:607361
Caroli Syndrome	Hepatomegaly, Polycystic kidney dysplasia, Abnormality of the kidney	ORPHA:480520
Majeed Syndrome	Skin rash, Osteomyelitis, Inflammatory abnormality of the skin, Joint swelling	OMIM:609628
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Xerostomia, Skin rash, Keratoconjunctivitis sicca,...	OMIM:617321
Cinca Syndrome	Progressive sensorineural hearing impairment, Hearing impairment, Lymphedema, Skin rash, Eosinoph...	OMIM:607115
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Premature Aging Syndrome, Penttinen Type	Thickened skin, Sensorineural hearing impairment, Corneal stromal edema, Palmoplantar hyperkerato...	OMIM:601812
B4Galt1-Cdg	Low-set ears, Inflammatory abnormality of the skin, Redundant neck skin, Edema	ORPHA:79332
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph...	ORPHA:1834
Bardet-Biedl Syndrome 17	Micropenis, Renal cyst, Stage 5 chronic kidney disease, Polyuria	OMIM:615994
Neurofibromatosis, Familial Spinal	Cafe-au-lait spot, Freckling	OMIM:162210
De Sanctis-Cacchione Syndrome	Keratitis, Sensorineural hearing impairment, Parakeratosis, Conjunctivitis, Hypermelanotic macule	OMIM:278800
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Parkes Weber Syndrome	Skin ulcer, Abnormal femoral metaphysis morphology, Hypertrophy of the upper limb, Scaling skin, ...	ORPHA:90307
Floating-Harbor Syndrome	Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic kidney disease,...	ORPHA:2044
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Skin ulcer, Pustule, Myositis, Skin ve...	ORPHA:48104
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Renal cyst, Proximal tubulopathy	OMIM:602579
Ogden Syndrome	Cardiomegaly, Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney	OMIM:300855
Beckwith-Wiedemann Syndrome	Nephropathy, Visceromegaly, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Nephrolithiasis,...	ORPHA:116
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Splenomegaly, Polycystic ki...	OMIM:249000
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology	ORPHA:398189
Mayer-Rokitansky-Kuster-Hauser Syndrome	Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,...	OMIM:277000
22Q11.2 Deletion Syndrome	Renal hypoplasia, Vesicoureteral reflux, Splenomegaly, Multiple renal cysts, Polycystic kidney dy...	ORPHA:567
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney	OMIM:261740
Gastrointestinal Stromal Tumor	Hyperpigmentation of the skin, Large hands	OMIM:606764
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Low-set ears, Eczematoid dermatitis, Superficial dermal perivascular inflammatory infiltrate, Par...	ORPHA:83617
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eczematoid dermatitis, Skin ulcer, Osteomyelitis, Skin rash, Skin vesicle, Eosinophilia, Pruritus...	ORPHA:2314
Immunodeficiency 110 With Lymphoproliferation	Recurrent pneumonia, Chronic mucocutaneous candidiasis, Molluscum contagiosum, Disseminated mollu...	OMIM:614868
Gjc2-Related Late-Onset Primary Lymphedema	Facial edema, Predominantly lower limb lymphedema, Genital edema, Edema of the dorsum of hands, R...	ORPHA:568051
Chime Syndrome	Erythema, Hearing impairment, Skin ulcer, Ichthyosis, Hyperkeratosis	ORPHA:3474
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Erythema, Hypopigmentation of the skin, Palmoplantar keratoderma, Recurrent skin infections, Gene...	ORPHA:79396
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Renal cyst, Multicystic kidney dysplasia	ORPHA:2031
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve...	OMIM:301111
Waardenburg Syndrome	Conductive hearing impairment, Hypopigmented skin patches, Hearing impairment, Premature graying ...	ORPHA:3440
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent aphthous stomatitis, Vitiligo, Otitis media, Skin rash, Hashimoto thyroiditis, Juvenile...	ORPHA:275
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Cronkhite-Canada Syndrome	Generalized hyperpigmentation, Abnormality of skin pigmentation, Tapered finger	ORPHA:2930
Hennekam-Beemer Syndrome	Erythema, Irregular hyperpigmentation, Conductive hearing impairment, Hearing impairment, Camptod...	ORPHA:2135
Roberts Syndrome	Long penis, Polycystic kidney dysplasia	ORPHA:3103
Antisynthetase Syndrome	Xerostomia, Skin rash, Lack of skin elasticity, Myositis, Keratoconjunctivitis sicca, Arthritis, ...	ORPHA:81
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Vexas Syndrome	Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Sensorine...	OMIM:301054
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria	OMIM:615398
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Renal hypoplasia, Renal cyst, Stillbirth, Micropenis, Polycystic kidney dysplasia	OMIM:210710
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Conductive hearing impairment, High-frequency sensorineural hearing impairment, Cutis laxa, Folli...	OMIM:614557
Periodic Fever, Familial, Autosomal Dominant	Erysipelas, Skin rash, Myositis, Oligoarthritis, Periorbital edema, Conjunctivitis, Maculopapular...	OMIM:142680
Immunodeficiency 55	Ichthyosis, Dry skin, Recurrent skin infections, Eczematoid dermatitis	OMIM:617827
3-Methylglutaconic Aciduria Type 7	Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria	ORPHA:445038
Heterotaxy, Visceral, 1, X-Linked	Renal agenesis, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Enlarged kidney	OMIM:306955
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Pustule, Synovitis, Abnormal inflammatory re...	ORPHA:77297
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Skin rash, Perianal abscess, Gastritis, Bronchiectasis	OMIM:618108
Systemic-Onset Juvenile Idiopathic Arthritis	Pleural effusion, Skin rash, Joint swelling, Arthritis, Juvenile rheumatoid arthritis, Pericardit...	ORPHA:85414
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Thickened skin, Seborrheic dermatitis, Acne	OMIM:167100
Leprechaunism	Nephrocalcinosis, Long penis, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarged kidney	ORPHA:508
American Trypanosomiasis	Pallor, Skin rash, Infectious encephalitis, Myocarditis, Periorbital edema, Edema	ORPHA:3386
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Enlarged kidney, Recurrent urinary tract infections	OMIM:615873
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost...	OMIM:305400
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts	ORPHA:1318
Leprosy	Penetrating foot ulcers, Acral ulceration, Hyperkeratosis, Iritis, Uveitis	ORPHA:548
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
Meckel Syndrome, Type 6	Horseshoe kidney, Renal cyst, Hepatic cysts, Aplasia of the bladder	OMIM:612284
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Erythema, Keratitis, Eczematoid dermatitis, Episcleritis, Ichthyosis, Scleritis, Conjunctivitis, ...	ORPHA:2273
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Mixed Connective Tissue Disease	Xerostomia, Joint swelling, Skin rash, Scleroderma, Myositis, Gastritis, Keratoconjunctivitis sic...	ORPHA:809
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Hepatosplenomegaly, Stage 5 chronic kidney disease, Multiple glomer...	OMIM:267010
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Atopic dermatitis, Pneumonia, Rheumatoid arthritis, Bronchiectasis, Recurrent ...	ORPHA:183675
Cholestasis-Lymphedema Syndrome	Abnormality of skin pigmentation	ORPHA:1414
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Folliculitis, Enterocolitis, Pancolitis	OMIM:612567
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Fliedner-Zweier Syndrome	Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia	OMIM:620511
Congenital Bile Acid Synthesis Defect Type 2	Hepatomegaly, Renal cyst, Dark urine	ORPHA:79303
Uremic Pruritus	Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections, Dry skin	ORPHA:94059
Msh3-Related Attenuated Familial Adenomatous Polyposis	Renal cyst, Ovarian dermoid cyst	ORPHA:480536
Dyskeratosis Congenita, Autosomal Recessive 6	Abnormality of skin pigmentation	OMIM:616353
Rothmund-Thomson Syndrome	Facial edema, Hypopigmentation of the skin, Porokeratosis, Malar rash, Skin rash, Reticular hyper...	ORPHA:2909
Trisomy 13	Hydronephrosis, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral meatus	ORPHA:3378
Microscopic Polyangiitis	Erythema, Uveitis, Skin ulcer, Episcleritis, Skin rash, Increased inflammatory response, Peritoni...	ORPHA:727
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Renal cyst, Hyperoxaluria	OMIM:601539
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Atopic dermatitis, Inflammation of the large intestine, Pneumonia, Eczematoid...	ORPHA:436159
Sapho Syndrome	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan...	ORPHA:793
Koolen-De Vries Syndrome Due To A Point Mutation	Hypopigmentation of the skin, Eczematoid dermatitis, Hearing impairment, Fair hair, Recurrent oti...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypopigmentation of the skin, Eczematoid dermatitis, Hearing impairment, Fair hair, Recurrent oti...	ORPHA:363958
Chikungunya	Facial edema, Depigmentation/hyperpigmentation of skin, Erythema, Skin rash, Joint swelling, Infe...	ORPHA:324625
Proteasome-Associated Autoinflammatory Syndrome 3	Skin rash, Myositis, Acanthosis nigricans, Arthritis, Sinusitis, Periorbital edema, Conjunctiviti...	OMIM:617591
Meckel Syndrome, Type 4	Renal cyst	OMIM:611134
Fanconi Anemia, Complementation Group A	Absent thumb, Hearing impairment, Short thumb, Anemic pallor, Abnormality of skin pigmentation, A...	OMIM:227650
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen...	ORPHA:465508
Mody	Nephropathy, Renal cyst, Glycosuria, Abnormality of the kidney	ORPHA:552
Immunodeficiency 81	Petechiae, Recurrent cutaneous abscess formation, Skin rash	OMIM:619374
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff...	ORPHA:93111
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia	OMIM:619980
Pgm3-Cdg	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Bronchiectasis, Conductive hearing imp...	ORPHA:443811
Lesch-Nyhan Syndrome	Testicular atrophy, Hyperuricosuria, Nephrocalcinosis, Nephrolithiasis	OMIM:300322
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma	ORPHA:2869
Femoral-Facial Syndrome	Micropenis, Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Renal agenesis	OMIM:134780
Cystic Echinococcosis	Hepatic cysts, Ovarian cyst, Renal cyst, Membranous nephropathy, Hepatomegaly	ORPHA:400
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia	OMIM:220500
Dermatomyositis	Erythema, Abnormal eosinophil morphology, Heliotrope rash, Skin ulcer, V-sign, Dry skin, Skin ras...	ORPHA:221
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic...	ORPHA:887
Blau Syndrome	Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Skin ulcer, Joint swelling, Cystoid mac...	OMIM:186580
Sweet Syndrome	Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ...	ORPHA:3243
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Horseshoe kidney, Renal cyst	ORPHA:166035
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Skin rash, Eosinophilia, Colitis, St...	ORPHA:911
Chronic Granulomatous Disease	Eczematoid dermatitis, Skin ulcer, Otitis media, Sinusitis, Inflammatory abnormality of the eye, ...	ORPHA:379
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia	OMIM:618829
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Fabry Disease	Hearing impairment, Lymphedema, Sensorineural hearing impairment, Arthritis, Hyperkeratosis	ORPHA:324
Melkersson-Rosenthal Syndrome	Periorbital edema, Cheilitis, Inflammatory abnormality of the skin, Edema	ORPHA:2483
Woodhouse-Sakati Syndrome	Bilateral sensorineural hearing impairment, Protruding ear, Scaling skin	ORPHA:3464
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Renal cyst	ORPHA:488618
Kleefstra Syndrome	Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Micropenis, Hypoplasia of...	ORPHA:261494
Blau Syndrome	Posterior uveitis, Erythema, Xerostomia, Keratitis, Skin ulcer, Dry skin, Ichthyosis, Joint swell...	ORPHA:90340
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Xerostomia, Hearing impairment, Fair hair, Blue irides, Generalized hypopigmentation, Hyperkerato...	OMIM:604292
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Pneumonia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Osteomyelitis,...	ORPHA:37042
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Eczematoid dermatitis, Sensorineural hearing impairment	OMIM:619693
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thickened skin, Orthokeratotic hyperkeratosis, Epidermal thickening, Abnormality of dermal melano...	ORPHA:73223
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath...	OMIM:600740
Estrogen Resistance	Acanthosis nigricans, Acne	OMIM:615363
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H...	ORPHA:49
Cardiac-Urogenital Syndrome	Micropenis, Patent urachus, Penoscrotal hypospadias, Enlarged kidney	OMIM:618280
6Q Terminal Deletion Syndrome	Low-set, posteriorly rotated ears, Hyperkeratosis	ORPHA:75857
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Palmoplantar cutis laxa, Recurrent pneumonia, Follicular hyperkeratosis, Excessive wrinkled skin	OMIM:225400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Xerostomia, Conductive hearing impairment, Fair hair, Blue irides, Generalized hypopigmentation, ...	OMIM:129900
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Immunoglobulin A Vasculitis	Erythema, Skin ulcer, Angioedema, Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orch...	ORPHA:761
Trisomy 1Q	Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:261344
Pallister-Hall Syndrome	Renal hypoplasia, Hydroureter, Distal urethral duplication, Neonatal death, Hydronephrosis, Renal...	OMIM:146510
Cohen Syndrome	Aplasia/Hypoplasia of the earlobes, Finger syndactyly, Sandal gap, Genu valgum, Abnormality of re...	ORPHA:193
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Joubert Syndrome 14	Renal cyst	OMIM:614424
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Erythema, Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Arthritis, ...	ORPHA:32960
Simpson-Golabi-Behmel Syndrome, Type 1	Duplication of renal pelvis, Splenomegaly, Nephroblastoma, Hydronephrosis, Renal cyst, Hepatomega...	OMIM:312870
Cowden Syndrome	Palmoplantar keratoderma, Hypopigmented skin patches, Hearing impairment, Generalized hyperkerato...	ORPHA:201
Branchio-Oculo-Facial Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis	ORPHA:1297
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Nephroblastoma, Renal cyst, Micropenis, Hypospadias	OMIM:257300
Malakoplakia	Inflammatory abnormality of the skin, Skin ulcer, Urinary bladder inflammation, Skin rash, Orchit...	ORPHA:556
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Horseshoe kidney, Renal cyst	OMIM:250410
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Hydronephrosis, Hypospadias	ORPHA:912
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent urinary trac...	ORPHA:79404
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2075
Joubert Syndrome 2	Renal cyst, Nephronophthisis, Renal insufficiency	OMIM:608091
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Glandular hypospadias, Renal hypoplasia/aplasia, Urethral stricture...	ORPHA:2473
Mosaic Trisomy 1	Micropenis, Renal cyst, Renal cortical cysts, Penile hypospadias	ORPHA:1692
Congenital Disorder Of Glycosylation, Type Ia	Proximal tubulopathy, Proteinuria, Renal cyst, Hepatomegaly, Nephrotic syndrome	OMIM:212065
Trisomy 20P	Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor...	ORPHA:261318
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy...	OMIM:157640
Proteus Syndrome	Long penis, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Enlarged kidney	ORPHA:744
Von Hippel-Lindau Syndrome	Epididymal cyst, Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma	OMIM:193300
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy...	ORPHA:99880
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Ureteral duplication	OMIM:618460
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Pancreatic cysts	OMIM:208500
Marden-Walker Syndrome	Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro...	ORPHA:2461
Ablepharon Macrostomia Syndrome	Toe syndactyly, Atresia of the external auditory canal, Hearing impairment, Camptodactyly of fing...	ORPHA:920
3Q29 Microdeletion Syndrome	Low-set ears, Abnormality of skin pigmentation, Clinodactyly of the 5th finger, Macrotia, Tapered...	ORPHA:65286
Zinc Deficiency, Transient Neonatal	Eczematoid dermatitis	OMIM:608118
Dubowitz Syndrome	Small hand, Toe syndactyly, Broad thumb, Hearing impairment, Sandal gap, Low-set, posteriorly rot...	ORPHA:235
Fanconi Anemia, Complementation Group D2	Low-set ears, Absent thumb, Hearing impairment, Short thumb, Preaxial hand polydactyly, Partial d...	OMIM:227646
Roberts-Sc Phocomelia Syndrome	Long penis, Horseshoe kidney, Stillbirth, Polycystic kidney dysplasia, Hypospadias	OMIM:268300
Behcet Syndrome	Erythema, Iridocyclitis, Arthritis, Erythema nodosum, Epididymitis, Iritis	OMIM:109650
Parathyroid Carcinoma	Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy...	ORPHA:143
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst	OMIM:618454
Cornelia De Lange Syndrome 1	Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Proteinu...	OMIM:122470
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal cyst, Renal hypoplasia, Stillbirth	OMIM:616300
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Eczematoid dermatitis, Angioedema, Pleural effusion, Joint ...	ORPHA:3260
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1001
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciuria, Congenital megau...	ORPHA:369837
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal cyst, Renal dysplasia	OMIM:617260
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Hepatomegaly	ORPHA:1454
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Atypical Werner Syndrome	Skin ulcer, Premature graying of hair, White forelock, Abnormality of retinal pigmentation, Lack ...	ORPHA:79474
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Pelvic kidney	ORPHA:464311
Mosaic Trisomy 9	Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Hypoplasia of penis, Renal dysplasia	ORPHA:99776
Kyphoscoliotic Ehlers-Danlos Syndrome	Low-set ears, Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment...	ORPHA:536545
Joubert Syndrome 1	Nephropathy, Renal cyst	OMIM:213300
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Bifid ureter, Nephroblastoma, Renal cyst, Renal malrotation	OMIM:617107
Structural Heart Defects And Renal Anomalies Syndrome	Renal cyst, Renal insufficiency	OMIM:617478
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Nephronophthisis, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduce...	OMIM:266920
Familial Tumoral Calcinosis	Erythema, Hypopigmented skin patches, Skin rash	ORPHA:53715
Alveolar Echinococcosis	Abnormal bladder morphology, Renal cyst, Pancreatic cysts, Hepatic cysts	ORPHA:284
Dyskeratosis Congenita, Digenic	Abnormal palmar dermatoglyphics, Abnormality of skin pigmentation	OMIM:620040
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia	ORPHA:261197
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst	OMIM:191100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi...	OMIM:102700
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Pelvic kidney	ORPHA:464306
Tuberous Sclerosis 2	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe...	OMIM:613254
Genitopatellar Syndrome	Hydronephrosis, Multicystic kidney dysplasia	ORPHA:85201
Atelosteogenesis Type I	Multiple renal cysts	ORPHA:1190
Fryns Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypospadias	ORPHA:2059
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia	ORPHA:3301
2P15P16.1 Microdeletion Syndrome	Hydronephrosis, Multicystic kidney dysplasia	ORPHA:261349
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Rena...	ORPHA:2538
Short-Rib Thoracic Dysplasia 12	Renal hypoplasia, Splenomegaly, Neonatal death, Hepatomegaly, Cystic renal dysplasia	OMIM:269860
Craniolenticulosutural Dysplasia	Hyperpigmentation of the skin, Abnormality of skin pigmentation	ORPHA:50814
D-Bifunctional Protein Deficiency	Hepatomegaly, Renal cyst, Splenomegaly	OMIM:261515
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, Ectopic kidney	ORPHA:3063
Fryns Syndrome	Renal agenesis, Hydronephrosis, Renal cyst, Stillbirth, Ureteral duplication, Hypospadias	OMIM:229850
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pericardial effusion, Inflammatory abnormality of the skin, Pneumonia	ORPHA:26793
Refractory Celiac Disease	Inflammatory abnormality of the skin	ORPHA:398063
Pseudoxanthoma Elasticum	Cutis laxa, Civatte bodies	OMIM:264800
Joubert Syndrome 21	Renal cyst, Splenomegaly, Hyperechogenic kidneys	OMIM:615636
Plague	Inflammation of the large intestine, Lymphadenitis, Hearing impairment, Chapped lip, Skin ulcer, ...	ORPHA:707
Ring Chromosome 7 Syndrome	Short 5th finger, Slender finger, Small hand, Prominent crus of helix, 3-4 toe syndactyly, Genu v...	ORPHA:1449
Focal Dermal Hypoplasia	Horseshoe kidney, Multicystic kidney dysplasia, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:2092
Histiocytoid Cardiomyopathy	Hepatomegaly, Renal cyst, Cardiomegaly, Polycystic ovaries	ORPHA:137675
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Palpable purpura, Orchit...	ORPHA:48435
Smith-Lemli-Opitz Syndrome	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Ureteropelvic junction obstruction, ...	OMIM:270400
Reynolds Syndrome	Pruritus, Sclerodactyly, Erythema nodosum, Scleroderma	OMIM:613471
Lymphangioleiomyomatosis	Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Renal neoplasm	ORPHA:538
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, H...	ORPHA:391487
Ring Chromosome 13 Syndrome	Aplasia/hypoplasia involving bones of the hand, Aplasia/Hypoplasia of the thumb, Partial absence ...	ORPHA:96176
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Renal cyst, Vesicoureteral reflux, Hypospadias	OMIM:616975
Pearson Syndrome	Glycosuria, Renal insufficiency, Splenomegaly, Proteinuria, Renal cyst, Lacticaciduria, Hepatomegaly	ORPHA:699
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Renal...	OMIM:118450
Cranioectodermal Dysplasia 2	Renal insufficiency, Splenomegaly, Renal cyst, Left ventricular hypertrophy, Hepatomegaly	OMIM:613610
Schinzel-Giedion Syndrome	Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydronephrosis, Renal cyst, Micropeni...	ORPHA:798
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Multiple renal cysts, Renal cell carcinoma, Epididymal cyst...	ORPHA:892
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Renal insufficiency, Nephrolithiasis, Hematu...	ORPHA:534
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Hydroureter, Splenomegaly, Nephroblastoma, Hydronephrosis, Hepatome...	ORPHA:373
Cerebrocostomandibular Syndrome	Horseshoe kidney, Renal cyst, Ectopic kidney	OMIM:117650
Steinert Myotonic Dystrophy	Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth hormone stimulation te...	ORPHA:273
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Displacement of the urethral meatus	ORPHA:1556
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Pancreatic cysts	ORPHA:2750
Smith-Lemli-Opitz Syndrome	Abnormal localization of kidney, Multicystic kidney dysplasia, Ureteropelvic junction obstruction...	ORPHA:818
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia	ORPHA:1393
Autosomal Recessive Robinow Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis	ORPHA:1507
Hajdu-Cheney Syndrome	Hepatomegaly, Multiple renal cysts, Hypospadias, Splenomegaly	ORPHA:955
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1052
Distal Deletion 15Q	Micropenis, Abnormal localization of kidney, Multicystic kidney dysplasia, Hypospadias	ORPHA:1596
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Pancreatic cysts, Urethral atresia	ORPHA:564
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia	OMIM:300373
Trisomy 10P	Multiple renal cysts, Abnormality of the kidney	ORPHA:171929
1P36 Deletion Syndrome	Hydronephrosis, Renal cyst, Abnormality of the kidney, Hypoplasia of penis, Hypospadias	ORPHA:1606
Pagod Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:991
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Renal cyst, Hypospadias	ORPHA:495875
Robinow Syndrome	Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis	ORPHA:97360
Jacobsen Syndrome	Hydronephrosis, Multicystic kidney dysplasia	ORPHA:2308
Williams Syndrome	Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Renal insufficiency, Vesi...	ORPHA:904
Bardet-Biedl Syndrome	Chronic kidney disease, Horseshoe kidney, Vesicoureteral reflux, Polycystic ovaries, Hydronephros...	ORPHA:110
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Pancreatitis, Sensorineural hearing impairment	ORPHA:565612
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula	ORPHA:93271
Townes-Brocks Syndrome	Renal hypoplasia, Renal insufficiency, Vesicoureteral reflux, Multiple renal cysts, Ectopic kidne...	ORPHA:857
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Multicystic kidney dysplasia, Micropenis	OMIM:615287
Tetrasomy 9P	Recurrent urinary tract infections, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Micro...	ORPHA:3310
C Syndrome	Horseshoe kidney, Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:1308
Townes-Brocks Syndrome 1	Renal hypoplasia, Multicystic kidney dysplasia, Renal insufficiency, Vesicoureteral reflux, Ureth...	OMIM:107480
Peters Plus Syndrome	Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia, Hydronephrosis, Ureter...	ORPHA:709
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Hypoplasia of penis, Hy...	ORPHA:199
Branchiooculofacial Syndrome	Renal cyst, Hypospadias, Renal agenesis	OMIM:113620
Genitopatellar Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Micropenis	OMIM:606170
Mowat-Wilson Syndrome	Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal duplication, Hydronephro...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal duplication, Hydronephro...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Vesicoureteral reflux, R...	ORPHA:261552
Pallister-Killian Syndrome	Renal cyst, Hypospadias, Renal dysplasia, Stillbirth	OMIM:601803
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstr...	OMIM:164210
Pmm2-Cdg	Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology, Multiple renal cysts	ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Krt2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Krt2.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Loss of keratin K2 expression causes aberrant aggregation of K10, hyperkeratosis, and inflammation.	The Journal of investigative dermatology (April 2014)	Krt2^{tm1a(KOMP)Wtsi}	24751727

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Krt2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Krt2^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Krt2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Krt2^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Krt2^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Krt2^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Krt2 MGI:96699

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

X-ray

X-ray

Human diseases caused by Krt2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data