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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
abnormal kidney morphology	Krt2^{tm1b(KOMP)Wtsi}	HET	Early adult
abnormal kidney morphology	Krt2^{tm1b(KOMP)Wtsi}	HOM	Early adult
small testis	Krt2^{tm1b(KOMP)Wtsi}	HET	Early adult
enlarged kidney	Krt2^{tm1b(KOMP)Wtsi}	HOM	Early adult
preweaning lethality, incomplete penetrance	Krt2^{tm1b(KOMP)Wtsi}	HOM	Early adult
polycystic kidney	Krt2^{tm1b(KOMP)Wtsi}	HOM	Early adult
abnormal testis morphology	Krt2^{tm1b(KOMP)Wtsi}	HET	Early adult

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
Epididymis	Section images	heterozygote	50% (1 of 2)
Ileum	Section images	heterozygote	50% (1 of 2)
Penis	Section images	heterozygote	50% (1 of 2)
Prostate gland	Section images	heterozygote	50% (1 of 2)
Skin	Section images	heterozygote	100% (2 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Vagina	Section images	heterozygote	50% (1 of 2)
Vas deferens	Section images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Blood	N/A	heterozygote	0.0% (0 of 2)
Bone marrow	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	Not available
Cecum	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Colon	N/A	heterozygote	0.0% (0 of 2)
Diaphragm	N/A	heterozygote	0.0% (0 of 2)
Duodenum	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	Not available
Gonadal fat pad	N/A	heterozygote	0.0% (0 of 2)
Harderian gland	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	Not available
Hindlimb	N/A	heterozygote	Not available
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Jejunum	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	Not available
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Mesenteric adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Parotid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	Not available
Peyer's patch	N/A	heterozygote	Not available
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Quadriceps	N/A	heterozygote	0.0% (0 of 2)
Sciatic nerve	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	Not available
Small intestine	N/A	heterozygote	50% (1 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Sublingual gland	N/A	heterozygote	0.0% (0 of 2)
Submandibular gland	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Tongue	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	Not available
Trigeminal V nerve	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	Not available
Vesicular gland	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	Not available

No Embryo expression data was found for this gene.

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.67% (4 of 598)
aorta	0.17% (1 of 598)
blood	0.0%
bone marrow	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cecum	5.73% (22 of 384)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
chest bone	Unavailable
colon	15.71% (22 of 140)
diaphragm	0.0%
duodenum	3.57% (5 of 140)
epididymis	14.29% (21 of 147)
esophagus	1.66% (7 of 422)
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland	0.71% (1 of 140)
heart	0.33% (2 of 598)
hindlimb	0.0%
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
ileum	14.29% (20 of 140)
jejunum	8.57% (12 of 140)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
mesenteric adipose tissue	0.0%
mesenteric lymph node	0.31% (1 of 323)
midbrain	0.0%
olfactory lobe	0.33% (2 of 598)
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
parathyroid gland	0.17% (1 of 576)
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
stomach pyloric region	0.0%
striatum	0.5% (3 of 598)
sublingual gland	0.0%
submandibular gland	1.38% (2 of 145)
testis	1% (6 of 598)
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
tongue	3.57% (5 of 140)
trachea	0.5% (3 of 598)
trigeminal v nerve	0.0%
urinary bladder	0.0%
uterus	0.33% (2 of 598)
vagina	0.0%
vas deferens	4.56% (18 of 395)
vascular system	0.0%
vesicular gland	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

19 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 (927 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		Ichthyosis, Edema, Erythema, Acantholysis, Palmoplantar keratoderma	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
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperkeratosis, Scalin...	OMIM:617571
Testicular Torsion	Testicular torsion, Torsion of appendix of testis	OMIM:187400
Palmoplantar Keratoderma, Norrbotten Recessive Type	Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections	OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Pruritus, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Verrucous Hemangioma	Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin	ORPHA:464318
Peeling Skin Syndrome 6	Orthokeratosis, Parakeratosis, Scaling skin, Dry skin, Pruritus, Atopic dermatitis	OMIM:618084
Testicular Microlithiasis	Testicular microlithiasis	OMIM:610441
Porokeratosis Plantaris Palmaris Et Disseminata	Porokeratosis, Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis	ORPHA:737
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Erythroderma, Wh...	OMIM:604777
Congenital Panfollicular Nevus	Hyperkeratosis, Pruritus	ORPHA:139414
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis, Epidermal acanthosis	OMIM:101900
Porokeratosis Of Mibelli	Porokeratosis, Hyperkeratosis, Pruritus	ORPHA:735
Ichthyosis, Congenital, Autosomal Recessive 6	Generalized ichthyosis, Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Paraker...	OMIM:612281
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Perifolliculitis, Crusting erythematous dermatitis, Inflammatory abnormali...	ORPHA:79147
Neurofibromatosis Type 6	Freckling, Multiple cafe-au-lait spots	ORPHA:2678
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Ichthyosis, Congenital, Autosomal Recessive 8	Ichthyosis, Orthokeratosis, Erythema, Hyperkeratosis, Epidermal acanthosis, Hypergranulosis	OMIM:613943
Keratoderma Hereditarium Mutilans With Ichthyosis	Generalized ichthyosis, Sensorineural hearing impairment, Orthokeratosis, Palmoplantar hyperkerat...	ORPHA:79395
Palmoplantar Keratoderma, Punctate Type Ia	Punctate palmoplantar hyperkeratosis, Hypergranulosis, Epidermal acanthosis, Orthokeratosis	OMIM:148600
Ichthyosis Hystrix, Curth-Macklin Type	Scaling skin, Palmoplantar keratoderma, Hyperkeratotic papule	OMIM:146590
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis	OMIM:615028
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,...	OMIM:617610
Peeling Skin Syndrome 4	Ichthyosis, Orthokeratosis, Scaling skin, Hyperkeratosis, Palmoplantar keratoderma, Epidermal aca...	OMIM:607936
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosi...	OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hyperkeratosis, E...	OMIM:615023
Ichthyosis, Congenital, Autosomal Recessive 13	Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Hypergranulosis	OMIM:617574
Keratosis, Focal Palmoplantar And Gingival	Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat...	OMIM:148730
Dowling-Degos Disease 2	Hypomelanotic macule, Hyperkeratotic papule, Follicular hyperkeratosis, Reticular hyperpigmentation	OMIM:615327
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Hyperkeratosis-Hyperpigmentation Syndrome	Irregular hyperpigmentation, Hyperkeratosis, Multiple cafe-au-lait spots	ORPHA:1336
Peeling Skin Syndrome 5	Scaling skin, Hyperkeratosis, Epidermal acanthosis	OMIM:617115
Epidermolytic Hyperkeratosis	Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Erythro...	OMIM:113800
Psoriasis 2	Parakeratosis, Scaling skin, Psoriasiform dermatitis, Hyperkeratosis, Epidermal acanthosis	OMIM:602723
Dowling-Degos Disease 1	Progressive reticulate hyperpigmentation	OMIM:179850
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Atopic dermatitis, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar scaling skin, Diffu...	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, Parakeratosis, Hyperkeratosis, Hypergranul...	OMIM:604117
Cole Disease	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, E...	OMIM:615522
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Sensorineural hearing impairment, Hyperkeratosis	ORPHA:2202
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergr...	ORPHA:38
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hyperpigmentation	ORPHA:2297
Ichthyosis Hystrix Of Curth-Macklin	Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Recurrent skin infections	ORPHA:79503
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent skin infections, Orthokeratosis, Psoriasiform dermatitis, Erythroderma, Acantholysis, P...	OMIM:615508
Bazex Syndrome	Pruritus, Parakeratosis, Edema, Scaling skin, Hyperkeratosis, Acanthosis nigricans, Lip hyperpigm...	ORPHA:166113
Aquagenic Palmoplantar Keratoderma	Excessive skin wrinkling on dorsum of hands and fingers, Orthokeratotic hyperkeratosis, Palmar pr...	ORPHA:498359
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis, Abnormality of skin pigmentation	ORPHA:315
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Uv-Sensitive Syndrome 2	Freckling	OMIM:614621
Erythrokeratodermia Variabilis Et Progressiva 4	Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythema, Hyperker...	OMIM:617526
Erythrokeratodermia Variabilis Et Progressiva 3	Hyperkeratosis, Erythema, Palmoplantar keratoderma, Epidermal acanthosis, Hypergranulosis	OMIM:617525
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Ichthyosis, Congenital, Autosomal Recessive 10	Generalized ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperker...	OMIM:615024
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Pruritus, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Spotty hyperpig...	ORPHA:79399
Pityriasis Rubra Pilaris	Orthokeratosis, Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis	OMIM:173200
Ulerythema Ophryogenesis	Facial erythema, Hyperkeratotic papule, Contact dermatitis, Follicular hyperkeratosis, Dry skin, ...	ORPHA:3406
Erythrokeratodermia Variabilis Et Progressiva 1	Patchy palmoplantar hyperkeratosis, Generalized hyperkeratosis, Erythroderma, Epidermal acanthosi...	OMIM:133200
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis, Pruritus	OMIM:131850
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Mal De Meleda	Ichthyosis, Inflammatory abnormality of the skin, Nonepidermolytic palmoplantar hyperkeratosis, S...	ORPHA:87503
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Inflammatory abnormality of the skin, Scleroderma, Scaling skin, Mo...	ORPHA:90158
Bathing Suit Ichthyosis	Thickened skin, Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform eryt...	ORPHA:100976
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Perifolliculitis, Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation, Foll...	OMIM:613736
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Testes, Rudimentary	Decreased testicular size, Hypergonadotropic hypogonadism, Hypoplastic male external genitalia	OMIM:273150
Linear Atrophoderma Of Moulin	Scleroderma, Pruritus, Linear hyperpigmentation, Inflammatory abnormality of the skin	ORPHA:140933
Diamond-Blackfan Anemia 17	Hyperpigmentation of the skin	OMIM:617409
Acquired Ichthyosis	Ichthyosis, Pruritus, Hyperkeratosis, Erythema, Recurrent skin infections, Palmoplantar keratoder...	ORPHA:454
Olmsted Syndrome 1	Pruritus, Orthokeratosis, Parakeratosis, Hyperparakeratosis, Subungual hyperkeratosis, Palmoplant...	OMIM:614594
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Hyperkeratosis, Follicular hyperkeratosis, Axillary and groin hyperpigment...	ORPHA:69125
Dyschromatosis Universalis Hereditaria	Spotty hypopigmentation, Hypopigmented skin patches, Freckling, Multiple cafe-au-lait spots, Hype...	ORPHA:241
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa, Crusting erythematous dermatitis	ORPHA:79148
Atrophoderma Vermiculata	Hyperkeratotic papule, Abnormal epidermal morphology, Erythema, Pruritus, Follicular hyperkeratosis	ORPHA:79100
Dowling-Degos Disease 4	Pruritus, Epidermal acanthosis, Hypergranulosis	OMIM:615696
Acral Peeling Skin Syndrome	Hyperpigmentation of the skin, Scaling skin, Excessive wrinkling of palmar skin, Erythema	ORPHA:263534
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin, Generalized hyperpigmentation	ORPHA:2812
Polycystic Kidney Disease 7	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,...	OMIM:620056
Renal Dysplasia, Cystic, Susceptibility To	Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen...	OMIM:601331
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Psoriasiform lesion, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pust...	ORPHA:284426
Ichthyosis, Congenital, Autosomal Recessive 7	Ichthyosis, Erythroderma, Palmoplantar keratoderma, Epidermal acanthosis, Hypergranulosis	OMIM:615022
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus	OMIM:618531
Graham Little-Piccardi-Lassueur Syndrome	Pruritus, Perifollicular hyperkeratosis	ORPHA:505
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Angular cheilitis, Pruritus, Scaling skin, Punctate palmoplantar hyperkeratosis, Acantholysis, Hy...	OMIM:616295
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Acne inversa, Eczema, Subungual hyperkeratosis, Orthokeratosis	OMIM:617337
Hypotrichosis Simplex Of The Scalp	Pruritus, Allergic rhinitis, Parakeratosis, Scaling skin, Hyperkeratosis, Epidermal acanthosis, A...	ORPHA:90368
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hypopigmentation of the skin, Pruritus, Palmoplantar hyperkeratosis, Hyperpigmentation of the ski...	ORPHA:89838
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Autosomal Dominant Epidermolytic Ichthyosis	Ichthyosis, Congenital bullous ichthyosiform erythroderma, Skin ulcer, Hyperkeratosis, Erythroder...	ORPHA:312
Infantile Digital Fibromatosis	Parakeratosis, Hyperkeratosis, Epidermal acanthosis	ORPHA:199267
Ichthyosis With Confetti	Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Scalin...	OMIM:609165
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation, Hearing impairment	OMIM:300719
Congenital Megacalycosis	Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En...	ORPHA:93109
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation...	OMIM:145250
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis	OMIM:610227
Tietz Syndrome	Hypopigmentation of the skin, Abnormality of skin pigmentation, White eyebrow, Hypopigmentation o...	ORPHA:42665
Classic Mycosis Fungoides	Irregular hyperpigmentation, Pruritus, Skin rash, Skin ulcer, Eczema, Hypopigmented skin patches,...	ORPHA:2584
Pemphigus Foliaceus	Skin vesicle, Pruritus, Crusting erythematous dermatitis, Pustule, Scaling skin, Erythema, Erythr...	ORPHA:79481
Ichthyosis Prematurity Syndrome	Generalized ichthyosis, Polyhydramnios, Allergic rhinitis, Erythroderma, Hyperpigmentation of the...	OMIM:608649
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia	OMIM:614844
Pityriasis Rubra Pilaris	Irregular hyperpigmentation, Thickened skin, Ichthyosis, Pruritus, Eczema, Pustule, Subungual hyp...	ORPHA:2897
White Sponge Nevus 2	Edema, Epidermal acanthosis, Hyperparakeratosis	OMIM:615785
Hypogonadism, Male	Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis	OMIM:241100
Epidermolytic Palmoplantar Keratoderma	Palmoplantar hyperkeratosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palma...	ORPHA:2199
Chilblain Lupus	Pruritis on hand, Malar rash, Inflammatory abnormality of the skin, Discoid lupus rash, Skin rash...	ORPHA:90280
Cryptorchidism, Unilateral Or Bilateral	Unilateral cryptorchidism, Cryptorchidism	OMIM:219050
Lichen Planus Pemphigoides	Conjunctivitis, Skin vesicle, Pruritus, Hypopigmented streaks, Hyperkeratosis, Blepharitis	ORPHA:254478
Olmsted Syndrome, X-Linked	Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Subungual hyperkeratosis, Palmoplanta...	OMIM:300918
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Ichthyosis, Orthokeratosis, Sclerosing cholangitis, Parakeratosis, Pruritus, Epidermal acanthosis...	OMIM:607626
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry...	OMIM:614840
Lupus Erythematosus Tumidus	Scaling skin, Depigmentation/hyperpigmentation of skin	ORPHA:90283
Palmoplantar Keratoderma And Congenital Alopecia 2	Sclerodactyly, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Dry skin	OMIM:212360
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer	ORPHA:409
Nephronophthisis 20	Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff...	OMIM:617271
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Skin vesicle, Generalized hypopigmentation, Erythema migrans, Palmoplantar hyperkeratosis, Spotty...	ORPHA:158681
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritis on hand, Facial erythema, Palmoplantar erythema, Striae distensae, Skin vesicle, Pruritu...	ORPHA:64745
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Olmsted Syndrome 2	Pruritus, Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Perioral hyperkeratosis, Pa...	OMIM:619208
Congenital Anomalies Of Kidney And Urinary Tract 3	Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr...	OMIM:618270
Glucocorticoid Deficiency 3	Hyperpigmentation of the skin	OMIM:609197
Ichthyosis, Hystrix-Like, With Deafness	Ichthyosis, Sensorineural hearing impairment, Cobblestone-like hyperkeratosis, Punctate keratitis...	OMIM:602540
Nephronophthisis 16	Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R...	OMIM:615382
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Generalized ichthyosis, Cutis laxa, Scaling skin, Generalized hyperkeratosis, Epidermal acanthosi...	ORPHA:2269
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Scaling skin, Freckling, Hypermelanotic macule, Palmoplantar keratoderma, Hypomelanotic macule, D...	OMIM:618373
Porokeratosis	Hyperkeratosis, Abnormality of skin pigmentation, Pruritus	ORPHA:79358
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Perifolliculitis	OMIM:613737
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Scaling skin, Erythema, Hyperkerato...	OMIM:614457
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k...	OMIM:617805
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Erythrokeratodermia Variabilis	Irregular hyperpigmentation, Skin rash, Dry skin, Erythema, Hypermelanotic macule, Hyperkeratosis...	ORPHA:317
Vulvovaginal Gingival Syndrome	Parakeratosis, Pruritus, Epidermal acanthosis, Erythema	ORPHA:83453
Darier-White Disease	Acrokeratosis, Acantholysis, Hypermelanotic macule, Pruritus, Subungual hyperkeratotic fragments	OMIM:124200
Hanac Syndrome	Renal insufficiency, Hematuria, Multiple renal cysts	ORPHA:73229
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Superficial Epidermolytic Ichthyosis	Ichthyosis, Edema, Erythema, Acantholysis, Palmoplantar keratoderma	ORPHA:455
Darier Disease	Skin vesicle, Abnormality of skin pigmentation, Thickened skin, Pruritus, Acrokeratosis, Hypermel...	ORPHA:218
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Irregular hyperpigmentation, Melanocytic nevus, Hypopigmented skin patches	ORPHA:2435
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate...	OMIM:618061
Griscelli Syndrome, Type 1	Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ...	OMIM:214450
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Polycystic kidney dysplasia, Renal angiomyolipoma	OMIM:600273
Ichthyosis Vulgaris	Eczematoid dermatitis, Dry skin, Ichthyosis, Absent keratohyalin granules	OMIM:146700
Hypotrichosis 6	Pruritus, Follicular hyperkeratosis, Erythema	OMIM:607903
Basan Syndrome	Tapered finger, Cutaneous syndactyly of toes, Single transverse palmar crease, Hypermelanotic mac...	OMIM:129200
Immunodeficiency, Common Variable, 6	Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co...	OMIM:613496
Congenital Disorder Of Glycosylation, Type If	Scaling skin, Hyperkeratosis, Dry skin, Erythroderma	OMIM:609180
Ichthyosis, Congenital, Autosomal Recessive 1	Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Parake...	OMIM:242300
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Mottled pigmentation, Hyperkeratotic papule, Mixed hypo- and hyperpigmentation of the skin, Spott...	ORPHA:79397
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each ...	OMIM:148700
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Orthokeratosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis...	ORPHA:79501
Lamellar Ichthyosis	Lack of skin elasticity, Ichthyosis, Dry skin, Hyperkeratosis, Erythroderma, Dehydration, Pruritu...	ORPHA:313
Uv-Sensitive Syndrome 1	Freckling, Dry skin, Pigmentation anomalies of sun-exposed skin	OMIM:600630
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis, Dry skin	ORPHA:461
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hyperpigmentation of the skin, Hypopigmented skin patches	ORPHA:2819
Cutaneous Mastocytoma	Angioedema, Thickened skin, Peau d'orange, Hyperpigmentation of the skin, Scaling skin, Erythema,...	ORPHA:79455
Lichen Planopilaris	Pruritus, Hepatitis, Skin ulcer, Hypopigmented skin patches, Hyperkeratosis	ORPHA:525
Peeling Skin Syndrome 2	Scaling skin, Erythema	OMIM:609796
Uv-Sensitive Syndrome 3	Freckling, Dry skin	OMIM:614640
Acral Self-Healing Collodion Baby	Lack of skin elasticity, Edema of the dorsum of hands, Edema of the dorsum of feet, Palmoplantar ...	ORPHA:281127
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroder...	OMIM:601952
Trichothiodystrophy 7, Nonphotosensitive	Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:618546
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia	OMIM:309120
Odontoonychodermal Dysplasia	Palmoplantar erythema, Orthokeratosis, Palmoplantar hyperkeratosis, Plantar hyperkeratosis, Folli...	OMIM:257980
Dowling-Degos Disease	Progressive reticulate hyperpigmentation, Skin vesicle, Hyperkeratotic papule, Pruritus, Mixed hy...	ORPHA:79145
Immunodeficiency 51	Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos...	OMIM:613953
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, Sensorineural hearing impairment, Cafe-au-lait spot, Premature gray...	OMIM:619947
Pemphigus Vulgaris	Acantholysis, Recurrent cutaneous abscess formation	ORPHA:704
Hepatorenocardiac Degenerative Fibrosis	Renal interstitial fibrosis, Enlarged kidney, Hepatosplenomegaly, Renal cyst, Reduced renal corti...	OMIM:619902
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency	OMIM:615987
Lymphatic Malformation 4	Pedal edema, Hyperkeratosis, Lymphedema	OMIM:615907
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Partial Chromosome Y Deletion	Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M...	ORPHA:1646
Spermatogenic Failure 32	Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia	OMIM:619831
Skin Fragility-Woolly Hair Syndrome	Acantholysis, Palmoplantar erythema, Palmoplantar scaling skin, Palmoplantar hyperkeratosis	OMIM:607655
Focal Palmoplantar And Gingival Keratoderma	Gingival hyperkeratosis, Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperke...	ORPHA:2200
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Ichthyosis, Pruritus, Parakeratosis, Hyperkeratosis, Erythema, Palmoplantar keratoderma	OMIM:615821
Familial Benign Chronic Pemphigus	Acantholysis, Hyperkeratosis, Skin vesicle, Erythema	ORPHA:2841
Drug-Induced Localized Lipodystrophy	Hyperpigmentation of the skin, Hypopigmentation of the skin, Erythema	ORPHA:90157
Dissecting Cellulitis Of The Scalp	Edema, Pruritus, Recurrent skin infections	ORPHA:345
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, Epidermal acan...	ORPHA:79151
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Hepatomegaly	OMIM:614859
Anonychia With Flexural Pigmentation	Dry skin, Axillary and groin hyperpigmentation and hypopigmentation	OMIM:106750
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Plantar hyperkeratosis	OMIM:616487
Iga Pemphigus	Skin vesicle, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess, Pustu...	ORPHA:555905
Dilution, Pigmentary	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:126070
Dystrophic Epidermolysis Bullosa Pruriginosa	Hyperkeratosis, Pruritus	ORPHA:89843
Ichthyosis, Annular Epidermolytic, 1	Congenital bullous ichthyosiform erythroderma, Ichthyosis, Palmoplantar hyperkeratosis, Erythema	OMIM:607602
Sjögren-Larsson Syndrome	Ichthyosis, Inflammatory abnormality of the eye, Generalized hyperpigmentation, Abnormality of re...	ORPHA:816
Moynahan Syndrome	Hyperkeratosis, Sensorineural hearing impairment	ORPHA:2574
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin	OMIM:247100
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Peeling Skin Syndrome 3	White scaling skin	OMIM:616265
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Rothmund-Thomson Syndrome, Type 1	Hyperkeratosis, Cafe-au-lait spot, Recurrent otitis media	OMIM:618625
Amyloidosis, Primary Localized Cutaneous, 3	Hypermelanotic macule, Dry skin	OMIM:617920
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pancreatic cysts, Multiple small medullary renal cysts, Neonatal death, Enlarged kidney, Polycyst...	OMIM:263200
Pemphigus Erythematosus	Acantholysis, Malar rash, Hypopigmented skin patches	ORPHA:79480
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
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Rare Cutaneous Lupus Erythematosus	Malar rash, Crusting erythematous dermatitis, Mixed hypo- and hyperpigmentation of the skin, Disc...	ORPHA:535
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Palmoplantar keratoderma, Epidermal acanthosis, Plantar hyperkeratosis	OMIM:615735
Ectodermal Dysplasia-Syndactyly Syndrome 2	Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Macrotia, Follicular hyp...	OMIM:613576
Testicular Regression Syndrome	Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit...	ORPHA:983
Focal Segmental Glomerulosclerosis 7	Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta...	OMIM:616002
Ectodermal Dysplasia/Skin Fragility Syndrome	Scaling skin, Palmoplantar hyperkeratosis	OMIM:604536
Amyloidosis, Primary Localized Cutaneous, 1	Scaling skin, Pruritus, Dry skin	OMIM:105250
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Mottled pigmentation of the trunk and proximal extremities, Discrete 2 to 5-mm hyper- and hypopig...	OMIM:131960
Psoriasis 14, Pustular	Oligoarthritis, Cholangitis, Parakeratosis, Pustule, Erythema, Psoriasiform dermatitis, Epidermal...	OMIM:614204
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Conjunctivitis, Facial erythema, Folliculitis, Keratitis, Palmoplantar keratoderma, Follicular hy...	OMIM:308800
Congenital Disorder Of Glycosylation, Type Iq	Abnormality of skin pigmentation, Ichthyosis, Cutis laxa, Eczema, Low-set ears, Hyperkeratosis, D...	OMIM:612379
Irida Syndrome	Hyperkeratosis, Ichthyosis, Pallor	ORPHA:209981
Nephronophthisis 2	Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio...	OMIM:602088
Dermatitis, Atopic	Conjunctivitis, Facial erythema, Ichthyosis, Allergic rhinitis, Eczema, Pallor, Dry skin, Recurre...	OMIM:603165
Griscelli Syndrome Type 3	Hypopigmentation of hair, Iris hypopigmentation, Partial albinism	ORPHA:79478
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia, Renal insufficiency	OMIM:173900
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Splenomegaly, Hepatomegaly	OMIM:615285
Ermine Phenotype	Sensorineural hearing impairment, Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentat...	OMIM:227010
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies	Renal cyst	OMIM:138790
Hyperparathyroidism 2 With Jaw Tumors	Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno...	OMIM:145001
Keratoderma Hereditarium Mutilans	Sensorineural hearing impairment, Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratos...	ORPHA:494
Palmoplantar Keratoderma And Congenital Alopecia 1	Palmoplantar erythema, Epidermal hyperkeratosis, Plantar hyperkeratosis, Hyperpigmentation of the...	OMIM:104100
Kid Syndrome	Prelingual sensorineural hearing impairment, Acne inversa, Keratoconjunctivitis sicca, Punctate k...	ORPHA:477
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Palmoplantar Keratoderma, Epidermolytic	Palmar hyperkeratosis, Palmoplantar hyperkeratosis, Plantar hyperkeratosis, Localized epidermolyt...	OMIM:144200
Aicardi-Goutieres Syndrome 5	Scaling skin, Chilblains, Dry skin	OMIM:612952
Nephronophthisis 9	Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease	OMIM:613824
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Harlequin Ichthyosis	Ichthyosis, Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma	ORPHA:457
Proteus Syndrome	Hyperkeratosis, Depigmentation/hyperpigmentation of skin, Epidermal acanthosis	OMIM:176920
Chilblain Lupus 2	Chilblains	OMIM:614415
Meige Disease	Recurrent bacterial skin infections, Pedal edema, Lymphedema, Edema of the dorsum of hands, Cobbl...	ORPHA:90186
Renal Dysplasia	Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ...	ORPHA:93108
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Ichthyosis, Congenital, Autosomal Recessive 3	Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplan...	OMIM:606545
Immunodeficiency 58	Recurrent aphthous stomatitis, Ichthyosis, Bronchiectasis, Allergic rhinitis, Eczema, Cutaneous a...	OMIM:618131
Tietz Albinism-Deafness Syndrome	Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis, Blue irides, ...	OMIM:103500
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Hyperkeratosis	OMIM:618339
Peeling Skin Syndrome 1	Scaling skin, Pruritus, Eosinophilia, Erythroderma	OMIM:270300
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis, Freckling, Melanocytic nevus	ORPHA:1573
Hypertrichosis Lanuginosa Congenita	Abnormality of skin pigmentation, Hearing impairment	ORPHA:2222
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Polycystic ovaries, Enlarged polycystic ovaries	ORPHA:90301
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Follicular hyperkeratosis, Dry skin	OMIM:617066
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Benign Cephalic Histiocytosis	Skin rash, Inflammatory abnormality of the skin	ORPHA:157997
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Diffuse palmoplantar hyperkeratosis, Hypopigmentation of the skin	OMIM:617294
Aa Amyloidosis	Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Renal amyloidosis, Abnormality of the k...	ORPHA:85445
Milroy Disease	Pedal edema, Lymphedema, Predominantly lower limb lymphedema, Erysipelas, Hyperkeratosis	ORPHA:79452
Retinitis Pigmentosa 35	Abnormality of skin pigmentation	OMIM:610282
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Orthokeratosis, Parakeratosis, Hearing impairment, Erythema, Hyperkeratosis, Epidermal acanthosis...	OMIM:308050
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Epidermal acanthosis, Sensorineural hearing impairment, Hyperkeratosis	OMIM:616029
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Erythroderma, Allergic rhinitis, Eczema, Hypopigmented skin patches...	ORPHA:330064
Flynn-Aird Syndrome	Hyperkeratosis, Progressive sensorineural hearing impairment	OMIM:136300
Diffuse Cutaneous Mastocytosis	Thickened skin, Peau d'orange, Mixed hypo- and hyperpigmentation of the skin, Scaling skin, Eryth...	ORPHA:79456
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Ichthyosis Bullosa Of Siemens	Congenital bullous ichthyosiform erythroderma	OMIM:146800
Ectodermal Dysplasia-Skin Fragility Syndrome	Palmoplantar keratoderma, Recurrent pneumonia, Scaling skin, Recurrent skin infections, Pruritus,...	ORPHA:158668
Yemenite Deaf-Blind Hypopigmentation Syndrome	Severe sensorineural hearing impairment, White forelock, Patchy hypo- and hyperpigmentation, Nume...	OMIM:601706
Lipoid Proteinosis	Pustule, Hyperkeratosis, Thickened skin, Acne	ORPHA:530
Kerion Celsi	Recurrent skin infections, Recurrent cutaneous abscess formation, Inflammatory abnormality of the...	ORPHA:499
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Bardet-Biedl Syndrome 16	Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal insufficiency	OMIM:615993
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Short distal phalanx of finger, Aplasia/Hypo...	ORPHA:2513
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst, Neonatal death, Hepatomegaly	OMIM:614870
Tylosis With Esophageal Cancer	Parakeratosis, Diffuse palmoplantar hyperkeratosis, Follicular hyperkeratosis	OMIM:148500
Pseudovaginal Perineoscrotal Hypospadias	Perineal hypospadias, Bifid scrotum, Ambiguous genitalia, male, Cryptorchidism, Abnormality of th...	OMIM:264600
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Ambiguous geni...	ORPHA:753
Ichthyosis, Congenital, Autosomal Recessive 2	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar keratode...	OMIM:242100
Leopard Syndrome 3	Sensorineural hearing impairment, Epidermal hyperkeratosis, Multiple lentigines, Dry skin, Few ca...	OMIM:613707
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Sensorineural hearing impairment, Ichthyosis, Parakeratosis, Xerostomia, Acanthosis nigricans, Hy...	OMIM:618527
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar hyperkeratosis, Congenital sensorineural hearing impairment, ...	ORPHA:2698
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ...	OMIM:613095
Noonan Syndrome 8	Polyhydramnios, Palmoplantar cutis laxa, Eczema, Pleural effusion, Hyperpigmentation of the skin,...	OMIM:615355
Centrifugal Lipodystrophy	Lymphadenitis, Scaling skin, Erythema, Inflammatory abnormality of the skin	ORPHA:90156
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Pallor	ORPHA:2786
Ramon Syndrome	Hyperkeratosis, Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of r...	ORPHA:3019
Autosomal Dominant Polycystic Kidney Disease	Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki...	ORPHA:730
Chromomycosis	Hyperkeratotic papule, Pruritus, Lymphedema, Predominantly lower limb lymphedema, Keratoconjuncti...	ORPHA:182
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Stomatitis, Pustule, Joint swelling, Hyperkeratosis, Epidermal acanthosis	OMIM:612852
Lymphatic Malformation 12	Polyhydramnios, Lymphedema, Nonimmune hydrops fetalis, Fetal ascites, Hyperkeratosis	OMIM:620014
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Renal tubular atrophy, Multiple small medullary renal cysts, Stage ...	OMIM:603860
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin pat...	ORPHA:998
Ichthyosis, Congenital, Autosomal Recessive 11	Hyperkeratosis, Pruritus, Congenital ichthyosiform erythroderma, Blepharitis	OMIM:602400
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Short thumb, Hypopigmented skin ...	ORPHA:2251
Hypotrichosis And Recurrent Skin Vesicles	Angular cheilitis, Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis	OMIM:613102
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Pruritus, Eczema, Palmoplantar keratoderma, Dry skin, Blepharitis	OMIM:618535
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Isolated Follicle Stimulating Hormone Deficiency	Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz...	ORPHA:52901
Spinocerebellar Ataxia Type 32	Testicular atrophy, Male infertility, Azoospermia	ORPHA:276183
Albinism-Deafness Syndrome	Patchy hypo- and hyperpigmentation, Piebaldism, Albinism, Congenital sensorineural hearing impair...	OMIM:300700
Congenital Non-Bullous Ichthyosiform Erythroderma	Ichthyosis, Pruritus, Erythroderma, Keratitis, Palmoplantar keratoderma, Hearing impairment	ORPHA:79394
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Transgrediens Et Progrediens Palmoplantar Keratoderma	Facial erythema, Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Thic...	ORPHA:495
Pilodental Dysplasia With Refractive Errors	Follicular hyperkeratosis, Reticular hyperpigmentation	OMIM:262020
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis	ORPHA:242
Mpdu1-Cdg	Scaling skin, Ichthyosis, Eczema	ORPHA:79323
Netherton Syndrome	Hypereosinophilia, Hypernatremic dehydration, Allergic rhinitis, Congenital nonbullous ichthyosif...	OMIM:256500
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Hidrotic Ectodermal Dysplasia	Thickened skin, Hyperkeratotic papule, Cobblestone-like hyperkeratosis, Palmoplantar hyperkeratos...	ORPHA:189
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Skin ulcer, Penetrating foot ulcers, Hyperkeratosis, Hearing impairment	ORPHA:36386
Juvenile Idiopathic Arthritis	Thickened skin, Pericardial effusion, Skin rash, Arthritis, Uveitis, Joint swelling, Generalized ...	ORPHA:92
Prolidase Deficiency	Pruritus, Crusting erythematous dermatitis, Skin ulcer, Abnormality of retinal pigmentation, Whit...	ORPHA:742
Chronic Mucocutaneous Candidiasis	Pruritus, Hepatitis, Skin rash, Skin ulcer, Erythema, Hyperkeratosis, Cheilitis	ORPHA:1334
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Chronic rhinitis, Palmoplantar keratoderma, Epidermal acanthosis, Follicular hyper...	OMIM:615225
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Sensorineural hearing impairment, Follicular hyperkeratosis	ORPHA:300179
Thomas Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3316
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1909
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Decreased testicular size, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism	OMIM:614858
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis, Erythroderma	OMIM:133190
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Cystic renal dysplasia, Stillbirth, Hepatomegaly, Hepatic cysts	OMIM:615415
Rat-Bite Fever	Endocarditis, Septic arthritis, Lymphadenitis, Oligoarthritis, Maculopapular exanthema, Erythema ...	ORPHA:31205
Oculocutaneous Albinism, Type Viii	Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect	OMIM:619165
Oculocutaneous Albinism Type 1A	Hypopigmentation of the skin, Thickened skin, Ocular albinism, Albinism, Iris hypopigmentation, H...	ORPHA:79431
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypothyroidism, Ambiguous genitalia, Infertility, Male pseudohermaphroditism, Cryptorchidism, Hyp...	ORPHA:752
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Low-set, posteriorly rotated ears, Ichthyosis, Eczema	ORPHA:3055
Congenital Disorder Of Glycosylation, Type Im	Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the skin	OMIM:610768
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis	ORPHA:3033
Xeroderma Pigmentosum Variant	Freckles in sun-exposed areas, Hypopigmentation of the skin, Dry skin, Hyperpigmentation of the skin	ORPHA:90342
Hidrotic Ectodermal Dysplasia, Halal Type	Multiple cafe-au-lait spots, Follicular hyperkeratosis, Hearing impairment, Protruding ear	ORPHA:1809
Waardenburg Syndrome, Type 2A	Sensorineural hearing impairment, Premature graying of hair, Albinism, White eyelashes, White eye...	OMIM:193510
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Micropenis, Crypt...	OMIM:202150
Warty Dyskeratoma	Acantholysis, Acrokeratosis, Epidermal thickening	ORPHA:69745
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Multiple Acyl-Coa Dehydrogenase Deficiency	Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Generalized ...	OMIM:231680
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Pili Torti-Onychodysplasia Syndrome	Generalized keratosis follicularis, Eczema, Abnormal pinna morphology, Palmoplantar keratoderma, ...	ORPHA:2890
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Hearing impairment, Lymphedema	ORPHA:79279
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Palmoplantar hype...	OMIM:617388
Congenital Anomalies Of Kidney And Urinary Tract 2	Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy...	OMIM:143400
Kennedy Disease	Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus	ORPHA:481
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis	ORPHA:1988
X-Linked Dominant Chondrodysplasia Punctata	Sensorineural hearing impairment, Ichthyosis, Scaling skin, Abnormal pinna morphology, Erythroder...	ORPHA:35173
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Hypohidrotic Ectodermal Dysplasia	Irregular hyperpigmentation, Generalized hypopigmentation of hair, Inflammatory abnormality of th...	ORPHA:238468
46,Xx Sex Reversal 4	Ambiguous genitalia, Fused labia majora, Penoscrotal hypospadias, Gonadal dysgenesis, Ovotestis, ...	OMIM:617480
Idiopathic Trachyonychia	Vitiligo, Ichthyosis, Atopic dermatitis, Circumungual hyperkeratosis	ORPHA:79153
Congenital Disorder Of Glycosylation, Type Il	Polycystic kidney dysplasia, Hepatomegaly, Hepatosplenomegaly	OMIM:608776
Poikiloderma With Neutropenia	Conjunctivitis, Skin rash, Recurrent sinusitis, Plantar hyperkeratosis, Recurrent otitis media, R...	OMIM:604173
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Hypopigmentation of the skin	OMIM:610798
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of skin pigmentation, Keratoconjunctivitis sicca, Skin ulcer, Hyperkeratosis, Hearing...	ORPHA:1806
Interstitial Nephritis, Karyomegalic	Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ...	OMIM:614817
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis, Sensorineural hearing impairment	ORPHA:1883
Graft Versus Host Disease	Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Inflammatory abnormalit...	ORPHA:39812
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Bardet-Biedl Syndrome 4	Renal cyst, Abnormality of the kidney	OMIM:615982
Bacterial Toxic-Shock Syndrome	Septic arthritis, Myocarditis, Osteomyelitis, Hepatitis, Skin rash, Fasciitis, Arthritis, Periton...	ORPHA:36234
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo...	OMIM:613092
Huriez Syndrome	Epidermal acanthosis, Congenital palmoplantar hyperkeratosis	OMIM:181600
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis, Dry skin	ORPHA:1028
Pachyonychia Congenita 3	Plantar hyperkeratosis, Palmar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosi...	OMIM:615726
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Renal-Hepatic-Pancreatic Dysplasia 1	Pancreatic cysts, Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic ki...	OMIM:208540
46,Xy Sex Reversal 10	Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo...	OMIM:616425
Neonatal Lupus Erythematosus	Malar rash, Skin rash, Parakeratosis, Hyperkeratosis, Maculopapular exanthema	ORPHA:398124
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Brachytelomesophalangy, Freckling, Short distal phalanx of finger	ORPHA:1547
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Sclerodactyly, Facial erythema, Scaling skin, Unilateral deafness, Palmoplantar keratoderma, Dry ...	ORPHA:1010
Intermediate Generalized Junctional Epidermolysis Bullosa	Palmoplantar keratoderma, Abnormality of skin pigmentation	ORPHA:79402
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormality of skin pigmentation, Skin ulcer, Purpura	ORPHA:743
Quinquaud Folliculitis Decalvans	Pustule, Erythema, Recurrent skin infections	ORPHA:346
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation, Purpura	ORPHA:745
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea...	OMIM:308750
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan...	OMIM:256710
X-Linked Sideroblastic Anemia	Hyperpigmentation of the skin, Pallor	ORPHA:75563
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Conjunctivitis, Facial erythema, Folliculitis, Keratitis, Palmoplantar keratoderma, Blepharitis	OMIM:612843
Sézary Syndrome	Irregular hyperpigmentation, Pruritus, Edema, Erythroderma, Palmoplantar keratoderma, Dry skin	ORPHA:3162
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Nephronophthisis 13	Pancreatic cysts, Hepatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glo...	OMIM:614377
Epidermodysplasia Verruciformis, Susceptibility To, 3	Palmar pits, Epidermal acanthosis	OMIM:618267
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo...	OMIM:308700
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Bronchiectasis, Reticular hyperpigmentation, Recurrent pneumonia, Colitis, Hyperkeratosis, Genera...	OMIM:301220
Limited Cutaneous Systemic Sclerosis	Abnormality of skin pigmentation, Skin ulcer, Joint contracture of the hand, Hypopigmented skin p...	ORPHA:220402
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Thyroiditis, Eczema, Scaling skin, Erythroderma, Psoriasiform dermatitis	OMIM:606367
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ...	OMIM:203200
Leydig Cell Hypoplasia	Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea...	ORPHA:755
46,Xy Sex Reversal 8	Ambiguous genitalia, Male pseudohermaphroditism, Sex reversal, Cryptorchidism	OMIM:614279
Immunodeficiency, Common Variable, 8, With Autoimmunity	Conjunctivitis, Atrophic gastritis, Bronchiectasis, Erythema nodosum, Arthritis, Thyroiditis, Rec...	OMIM:614700
Dracunculiasis	Skin rash, Arthritis, Skin ulcer, Recurrent cutaneous abscess formation, Pruritus	ORPHA:231
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ectopic kidney, Neonatal death, Cystic renal dysplasia, Hepatomegaly	OMIM:613730
46,Xx Ovotesticular Disorder Of Sex Development	Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ...	ORPHA:2138
Pressure-Induced Localized Lipoatrophy	Erythema, Inflammatory abnormality of the skin	ORPHA:90160
Oculocutaneous Albinism Type 3	Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig...	ORPHA:79433
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Neonatal death, Urethral atresia, Hydronephrosis	OMIM:314390
Elastoderma	Premature skin wrinkling, Eczema, Cutis laxa, Erysipelas	ORPHA:228240
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis	OMIM:260910
Odontochondrodysplasia 1	Nephronophthisis, Polycystic kidney dysplasia	OMIM:184260
Erythema Nodosum, Familial	Erythema, Erythema nodosum	OMIM:132990
Erosive Pustular Dermatosis Of The Scalp	Pustule, Erythema	ORPHA:222
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Recurrent pneumonia, Pustule, Dehydration, Epidermal acanthosis	OMIM:616069
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia	OMIM:263210
Pachyonychia Congenita 2	Angular cheilitis, Palmoplantar hyperkeratosis, Subungual hyperkeratosis, Folliculitis	OMIM:167210
Costello Syndrome	Lack of skin elasticity, Polyhydramnios, Generalized hyperpigmentation, Large earlobe, Redundant ...	ORPHA:3071
Branchiootorenal Syndrome 1	Renal steatosis, Vesicoureteral reflux, Renal dysplasia, Renal malrotation, Polycystic kidney dys...	OMIM:113650
Immunodeficiency 104	Eczema, Chronic mucocutaneous candidiasis, Recurrent otitis media, Otitis media, Pneumonia	OMIM:608971
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Renal cyst, Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias	OMIM:614091
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Follicular hyperkeratosis, Dry skin	ORPHA:486815
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Palmoplantar hyperkeratosis, Erythema, Crusting erythematous dermatitis	ORPHA:158673
Phenylketonuria	Generalized hypopigmentation, Fair hair, Eczema, Scleroderma, Blue irides, Dry skin	OMIM:261600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Long-chain dicarboxylic aciduria, ...	OMIM:608836
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Hypopigmentation of the skin, Cutaneous abscess, Viral hepat...	ORPHA:101330
Denys-Drash Syndrome	Nephroblastoma, Neonatal death, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidn...	OMIM:194080
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis	OMIM:615279
Lethal Acantholytic Erosive Disorder	Acantholysis, Oligohydramnios, Abnormal pinna morphology, Abnormal helix morphology	ORPHA:158687
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease	OMIM:617056
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Pustule, Scaling skin, Erythema, Psoriasiform dermatitis, Ch...	ORPHA:294023
Carnitine Palmitoyltransferase Ii Deficiency	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Cystic...	ORPHA:157
Epidermolysis Bullosa, Lethal Acantholytic	Acantholysis	OMIM:609638
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Perianal erythema, Hydromyelia, Ichthyosis follicularis, Eczema, Oligohydramnios, Scaling skin, D...	OMIM:308205
Familial Melanoma	Freckling, Dry skin	ORPHA:618
Isolated Polycystic Liver Disease	Multiple renal cysts, Hepatomegaly	ORPHA:2924
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sensorineural hearing impairment, Ichthyosis, Keratoconjunct...	OMIM:148210
Naxos Disease	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Subungual hyperkeratosis, Acantholysis, Palm...	OMIM:601214
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Recurrent sinusitis, Eczema, Recurrent o...	OMIM:618282
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
Rhyns Syndrome	Nephronophthisis, Multicystic kidney dysplasia	ORPHA:140976
Diaphanospondylodysostosis	Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis	OMIM:608022
Genitopalatocardiac Syndrome	Renal cyst, Hypospadias	OMIM:231060
Distal Tetrasomy 15Q	Nephroblastoma, Abnormality of the kidney, Polycystic kidney dysplasia, Horseshoe kidney, Dilatat...	ORPHA:314588
Trichothiodystrophy 1, Photosensitive	Macrotia, Keratoconjunctivitis sicca, Congenital nonbullous ichthyosiform erythroderma, Freckling...	OMIM:601675
Reactive Arthritis	Conjunctivitis, Recurrent aphthous stomatitis, Osteomyelitis, Enthesitis, Arthritis, Pericarditis...	ORPHA:29207
Fanconi Anemia, Complementation Group O	Stage 5 chronic kidney disease, Neonatal death, Renal cyst, Hydronephrosis	OMIM:613390
Bullous Impetigo	Erythema, Septic arthritis, Recurrent bacterial skin infections, Pustule	ORPHA:36237
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Lymphedema, Dermal translucency, Membranoproliferative glomerulonephritis, Epidermal hyperkeratos...	OMIM:137940
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a...	ORPHA:228308
Mycetoma	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis	ORPHA:2583
Renal Coloboma Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins...	ORPHA:1475
Tyrosinemia Type 2	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:28378
Spastic Paraplegia 23, Autosomal Recessive	Premature graying of body hair, Multiple lentigines, Vitiligo, Scapular winging, Hyperpigmentatio...	OMIM:270750
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Low-set ears, Hyperkeratosis	ORPHA:163966
Pachyonychia Congenita	Angular cheilitis, Palmar hyperkeratosis, Linear arrays of macular hyperkeratoses in flexural are...	ORPHA:2309
Piebald Trait	Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti...	OMIM:172800
Trisomy 17P	Polycystic kidney dysplasia, Hypoplasia of penis, Urethral stenosis, Urethral valve, Hydronephrosis	ORPHA:261290
Absence Of Fingerprints-Congenital Milia Syndrome	Skin rash, Thickened skin	ORPHA:1658
Deafness, Congenital, With Vitiligo And Achalasia	Vitiligo, Hearing impairment	OMIM:221350
Chilblain Lupus 1	Chilblains, Skin ulcer	OMIM:610448
Psoriasis-Related Juvenile Idiopathic Arthritis	Sacroiliac arthritis, Malar rash, Oligoarthritis, Pruritus, Iridocyclitis, Enthesitis, Iritis, Sk...	ORPHA:85436
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal dysplasia, Renal cyst, Stillbirth, Renal hypoplasia, Neonatal death	OMIM:236500
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Thickened skin, Lymphedema, Skin ulcer, Abnormality of retinal pigmentation, Erysipelas, Pleural ...	ORPHA:2526
Nephronophthisis 3	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne...	OMIM:604387
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal antihelix morphology, Macrotia, Ichthyosis, Low-set, posteriorly rotated ears, Hyperkera...	ORPHA:1005
Nephronophthisis 4	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne...	OMIM:606966
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy	OMIM:313200
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Skin vesicle, Hyperkeratotic papule, Pruritus, Gastrointestinal inflammation, Palmoplantar kerato...	ORPHA:79410
Joubert Syndrome 20	Renal cyst	OMIM:614970
Panniculitis-Induced Localized Lipodystrophy	Erythema, Inflammatory abnormality of the skin	ORPHA:90159
Say Syndrome	Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Multiple Acyl-Coa Dehydrogenase Deficiency	Polycystic kidney dysplasia, Lacticaciduria, Glutaric aciduria, Hepatomegaly, 3-Methylglutaric ac...	ORPHA:26791
Papillon-Lefèvre Syndrome	Periodontitis, Chronic furunculosis, Palmoplantar hyperkeratosis, Severe periodontitis, Hypopigme...	ORPHA:678
Polysyndactyly With Cardiac Malformation	Renal cyst, Hepatic cysts, Stillbirth	OMIM:263630
Terminal Osseous Dysplasia	Camptodactyly of finger, Short toe, Abnormality of skin pigmentation, Camptodactyly of toe, Clino...	OMIM:300244
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Skin rash, Progressive hearing impairment, Bilateral sensorineural hearing impairment	OMIM:124950
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Glucocorticoid Deficiency 2	Hyperpigmentation of the skin	OMIM:607398
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Bone Marrow Failure Syndrome 3	Abnormality of skin pigmentation, Eczema, Hyperkeratosis, Cupped ear, Hearing impairment	OMIM:617052
Mucopolysaccharidosis-Plus Syndrome	Renal tubular atrophy, Nephrotic syndrome, Enlarged kidney, Nephritis, Hepatomegaly, Proteinuria,...	OMIM:617303
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Polycystic kidney dysplasia, Hepatomegaly	OMIM:214110
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal cyst, Renal insufficiency, Hematuria	OMIM:611773
Trisomy X	Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3375
Donohue Syndrome	Macrotia, Acanthosis nigricans, Hypermelanotic macule, Hyperkeratosis, Low-set ears	OMIM:246200
Alagille Syndrome 2	Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria	OMIM:610205
Myoectodermal Gonadal Dysgenesis Syndrome	Bifid distal phalanx of the thumb, Sensorineural hearing impairment, Cutaneous finger syndactyly,...	OMIM:618419
Nephronophthisis 1	Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst...	OMIM:256100
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria	ORPHA:251004
Axial Osteomalacia	Renal cyst	OMIM:109130
Arima Syndrome	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy...	OMIM:243910
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Psoriasiform lesion, Erythroderma	ORPHA:169154
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Hyperkeratosis, Peau d'orange, Dry skin	OMIM:614576
Netherton Syndrome	Irregular hyperpigmentation, Ichthyosis, Erythroderma, Skin rash, Eczema, Congenital nonbullous i...	ORPHA:634
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:617866
Joubert Syndrome 39	Polycystic kidney dysplasia	OMIM:619562
Gaucher Disease, Perinatal Lethal	Polyhydramnios, Ichthyosis, Petechiae, Microtia, Ascites, Purpura, Nonimmune hydrops fetalis, Con...	OMIM:608013
Porphyria Cutanea Tarda, Type I	Hyperpigmentation of the skin, Eczema	OMIM:176090
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Micropenis, Renal dysplasia	OMIM:613091
Birt-Hogg-Dube Syndrome	Renal cyst, Renal neoplasm, Renal cell carcinoma	OMIM:135150
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Skin rash, Cutaneous abscess, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Erythema, E...	OMIM:147060
Glycogen Storage Disease Ia	Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly, Proteinuria, Focal segmental...	OMIM:232200
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, R...	ORPHA:2237
Peroxisome Biogenesis Disorder 11A (Zellweger)	Renal cyst, Multiple renal cysts	OMIM:614883
Verheij Syndrome	Renal cyst, Renal hypoplasia, Renal agenesis	OMIM:615583
Naegeli-Franceschetti-Jadassohn Syndrome	Hypopigmentation of the skin, Palmoplantar hyperkeratosis, Reticulated skin pigmentation, Punctat...	ORPHA:69087
Cutaneous Small Vessel Vasculitis	Skin rash, Purpura, Erythema, Recurrent skin infections	ORPHA:889
Testicular Agenesis	Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,...	ORPHA:325124
Sialidosis Type 1	Hyperkeratosis, Sensorineural hearing impairment	ORPHA:812
Bullous Diffuse Cutaneous Mastocytosis	Profuse pigmented skin lesions	ORPHA:280785
Glycogen Storage Disease Ib	Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly, Proteinuria, Focal segmental...	OMIM:232220
Lymphatic Malformation 3	Lymphedema, Recurrent skin infections	OMIM:613480
Van Den Bosch Syndrome	Acrokeratosis, Recurrent skin infections	ORPHA:3417
Mycosis Fungoides	Psoriasiform dermatitis, Pruritus, Eczema, Erythema	OMIM:254400
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Lymphoproliferative Syndrome, X-Linked, 2	Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the large intestine, Colitis, Recurren...	OMIM:300635
Kindler Epidermolysis Bullosa	Conjunctivitis, Abnormality of skin pigmentation, Periodontitis, Esophagitis, Inflammation of the...	ORPHA:2908
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Cystic renal dysplasia, Hepatomegaly	OMIM:200995
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Vesicoureteral reflux, Polycystic kidney dysplasia	OMIM:606232
Incontinentia Pigmenti	Abnormality of skin pigmentation, Uveitis, Pallor, Erythema, Eosinophilia, Keratitis, Hyperkerato...	OMIM:308300
Bardet-Biedl Syndrome 6	Renal cyst, Hypospadias	OMIM:605231
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Reynolds Syndrome	Sclerodactyly, Irregular hyperpigmentation, Pruritus, Skin rash, Arthritis, Keratoconjunctivitis ...	ORPHA:779
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Atopic dermatitis, Cutaneous abscess, Recurrent otitis media, Recurrent skin infections	OMIM:618944
Cardiofaciocutaneous Syndrome	Macrotia, Ichthyosis, Lymphedema, Multiple lentigines, Generalized hyperpigmentation, Redundant s...	ORPHA:1340
Lymphatic Filariasis	Lymphadenitis, Hypereosinophilia, Lymphedema, Predominantly lower limb lymphedema, Epididymitis, ...	ORPHA:2035
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Kaposiform Lymphangiomatosis	Pancreatic cysts, Enlarged kidney, Hepatosplenomegaly, Multiple renal cysts, Splenomegaly	ORPHA:464329
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Pruritus, Erythema, Rheumatoid arthritis	ORPHA:79099
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst, Hepatomegaly, Splenomegaly	OMIM:610199
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis, Hearing impairment, Tinnitus, Lymphedema	ORPHA:79280
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:251270
Restrictive Dermopathy	Polyhydramnios, Dermal translucency, Epidermal hyperkeratosis, Scaling skin, Generalized hyperker...	ORPHA:1662
Mucoepithelial Dysplasia, Hereditary	Keratoconjunctivitis, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Eosinophilia, Pneum...	OMIM:158310
Noonan Syndrome 10	Cafe-au-lait spot, Palmoplantar cutis laxa, Pleural effusion, Hyperpigmentation of the skin, Hype...	OMIM:616564
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Polyhydramnios, Cafe-au-lait spot, Ichthyosis, Multiple lentigines, Eczema, Hyperpigmentation of ...	OMIM:607721
Peroxisome Biogenesis Disorder 5A (Zellweger)	Polycystic kidney dysplasia, Hepatosplenomegaly, Renal cyst, Hypospadias, Hepatomegaly, Renal cor...	OMIM:614866
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pyoderma gangrenosum, Arthritis, Sterile arthritis, Cystic acne, Colitis, Acne	OMIM:604416
Kanzaki Disease	Sensorineural hearing impairment, Petechiae, Lymphedema, Hyperkeratosis, Dry skin	OMIM:609242
Incontinentia Pigmenti	Irregular hyperpigmentation, Abnormality of skin pigmentation, Infectious encephalitis, Skin rash...	ORPHA:464
Beckwith-Wiedemann Syndrome	Nephroblastoma, Vesicoureteral reflux, Cardiomegaly, Renal cortical cysts, Pancreatic hyperplasia...	OMIM:130650
Oculocutaneous Albinism Type 4	Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re...	ORPHA:79435
Noonan Syndrome 2	Polyhydramnios, Cafe-au-lait spot, Palmoplantar cutis laxa, Hyperpigmentation of the skin, Hyperk...	OMIM:605275
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts	ORPHA:1166
Short Rib-Polydactyly Syndrome	Urogenital sinus anomaly, Hepatic cysts, Abnormality of the kidney, Polycystic kidney dysplasia, ...	ORPHA:1505
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Crohn's disease, Arthritis, Skin ulcer, Myositis, Pustule, Increased inflammatory response, Acne	ORPHA:69126
Self-Improving Dystrophic Epidermolysis Bullosa	Mitten deformity, Palmoplantar keratoderma, Abnormality of skin pigmentation	ORPHA:79411
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Abnormality of skin pigmentation	OMIM:225050
Combined Oxidative Phosphorylation Deficiency 11	Renal tubular acidosis, Renal dysplasia, Renal cyst, Hepatomegaly, Renal hypoplasia, Renal insuff...	OMIM:614922
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Arthritis, Palmoplantar hyperkeratosis, Redundant skin, Erythema, Eczematoid dermatitis, Seborrhe...	OMIM:259100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal cortic...	OMIM:174000
Free Sialic Acid Storage Disease	Iris hypopigmentation, Abnormality of the upper limb, Abnormality of skin pigmentation, Skin ulcer	ORPHA:834
Immunodeficiency 66	Pustule, Recurrent skin infections	OMIM:618847
Mckusick-Kaufman Syndrome	Hydroureter, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis	OMIM:236700
Restrictive Dermopathy 1	Polyhydramnios, Epidermal hyperkeratosis, Oligohydramnios, Scaling skin, Low-set ears	OMIM:275210
Oculocutaneous Albinism Type 1B	Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ...	ORPHA:79434
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Lack of skin elasticity, Abnormality of the upper limb, Abnormality of skin pigmentation, Prematu...	ORPHA:1979
Joubert Syndrome 7	Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease	OMIM:611560
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of skin pigmentation	ORPHA:1810
Inflammatory Bowel Disease 28, Autosomal Recessive	Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis	OMIM:613148
Reticular Dysgenesis	Skin rash, Skin ulcer, Hearing impairment, Dehydration, Chronic otitis media	ORPHA:33355
Tyrosinemia, Type I	Enlarged kidney, Glomerular sclerosis, Hepatomegaly, Nephrocalcinosis, Renal insufficiency, Renal...	OMIM:276700
Large Congenital Melanocytic Nevus	Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches	ORPHA:626
Papillorenal Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot...	OMIM:120330
Protoporphyria, Erythropoietic, 1	Edema, Pruritus, Eczema, Erythema	OMIM:177000
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Enlarged kidney, Ovarian serous cystadenoma	ORPHA:276280
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Abnormality of skin pigmentation, Hearing impairment	ORPHA:457260
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly	OMIM:610644
Joubert Syndrome 35	Renal fibrosis, Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
Renal Hypoplasia, Bilateral	Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Renal cyst, D...	ORPHA:97362
Isolated Agammaglobulinemia	Skin rash, Inflammatory abnormality of the eye, Arthritis, Skin ulcer, Recurrent cutaneous absces...	ORPHA:229717
15q26 overgrowth syndrome	Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia, Renal agenesis, Du...	DECIPHER:81
Autosomal Recessive Polycystic Kidney Disease	Pancreatic cysts, Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polyc...	ORPHA:731
Ullrich Congenital Muscular Dystrophy 1	Follicular hyperkeratosis, Protruding ear	OMIM:254090
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly	ORPHA:79128
Leigh Syndrome With Nephrotic Syndrome	Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Cardiomegal...	ORPHA:255249
Riddle Syndrome	Arthritis, Recurrent sinusitis, Chronic sinusitis, Recurrent pneumonia, Scaling skin, Otitis medi...	ORPHA:420741
Branchiogenic Deafness Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os...	ORPHA:50815
Joubert Syndrome 18	Renal cyst, Horseshoe kidney	OMIM:614815
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Atopic dermatitis, Ichthyosis, Low-set ears, Multiple lentigines, Large earlobe, ...	OMIM:115150
Cutaneous Collagenous Vasculopathy	Erythema, Skin rash, Pruritus, Petechiae	ORPHA:280779
Autosomal Erythropoietic Protoporphyria	Edema, Pruritus, Eczema, Erythema	ORPHA:79278
Xeroderma Pigmentosum	Thickened skin, Melanocytic nevus, Sensorineural hearing impairment, Hypopigmented skin patches, ...	ORPHA:910
Ige Responsiveness, Atopic	Eczema, Allergic rhinitis	OMIM:147050
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Ovarian cyst, Unilateral renal agenesis	OMIM:618188
Meckel Syndrome 14	Polycystic kidney dysplasia	OMIM:619879
Senior-Loken Syndrome 3	Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresis	OMIM:606995
Necrobiosis Lipoidica	Skin ulcer, Erythema, Inflammatory abnormality of the skin	ORPHA:542592
Werner Syndrome	Lack of skin elasticity, Premature graying of hair, Skin ulcer, Abnormality of retinal pigmentati...	ORPHA:902
Prune Belly Syndrome	Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Recurrent urinary ...	ORPHA:2970
Dermatitis Herpetiformis	Skin vesicle, Eczema, Edema, Erythema, Pruritus	ORPHA:1656
Hermansky-Pudlak Syndrome	Hypopigmentation of the skin, Thickened skin, Melanocytic nevus, Ocular albinism, Iris hypopigmen...	ORPHA:79430
Oculocutaneous Albinism Type 2	Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati...	ORPHA:79432
Meacham Syndrome	Enlarged kidney, Neonatal death, Horseshoe kidney, Stillbirth	OMIM:608978
Autosomal Agammaglobulinemia	Conjunctivitis, Osteomyelitis, Bronchiectasis, Hepatitis, Skin rash, Arthritis, External ear malf...	ORPHA:33110
H Syndrome	Abnormality of the kidney, Enlarged kidney, Micropenis, Hepatosplenomegaly	ORPHA:168569
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Pyoderma gangrenosum, Bronchiectasis, Recurrent sinusitis, Recurrent pneumoni...	OMIM:616576
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Pustule, Erythema, Hyperpigmentation of the skin, Pruritus	ORPHA:48377
Caroli Disease	Polycystic kidney dysplasia, Splenomegaly, Hepatomegaly	ORPHA:53035
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Hyperechogenic kidneys, Microphallus	OMIM:612651
Arthrogryposis And Ectodermal Dysplasia	Hyperkeratosis, Dry skin	OMIM:601701
Familial Adenomatous Polyposis 4	Renal cyst, Ovarian cyst	OMIM:617100
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation	OMIM:613988
Tuberous Sclerosis Complex	Renal angiomyolipoma, Stage 5 chronic kidney disease, Abnormality of the kidney, Polycystic kidne...	ORPHA:805
Epidermodysplasia Verruciformis	Hypopigmented skin patches, Pustule, Multiple cafe-au-lait spots, Recurrent skin infections, Sebo...	ORPHA:302
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Nephrotic syndrome, Enlarged kidney, Hepatosplenomegaly, Proteinuria, Urinary glycosaminoglycan e...	ORPHA:505248
Bor Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junc...	ORPHA:107
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperpigmentation of the skin	OMIM:613743
Cranio-Osteoarthropathy	Mottled pigmentation, Arthritis, Eczema, Joint swelling, Osteoarthritis	ORPHA:1525
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary c...	OMIM:613159
Bone Marrow Failure Syndrome 4	Low-set ears, Dry skin, Eczema	OMIM:618116
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation	OMIM:240200
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome	Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, Ab...	ORPHA:2973
Fucosidosis	Hearing impairment, Generalized hyperkeratosis	ORPHA:349
Toxic Epidermal Necrolysis	Conjunctivitis, Skin ulcer, Erythema, Acantholysis, Pancreatitis	ORPHA:537
Erythema Elevatum Diutinum	Skin rash, Skin vesicle	ORPHA:90000
X-Linked Agammaglobulinemia	Conjunctivitis, Sensorineural hearing impairment, Osteomyelitis, Hepatitis, Skin rash, Arthritis,...	ORPHA:47
Ramon Syndrome	Hearing impairment, Hyperkeratosis, Pigmentary retinopathy, Juvenile rheumatoid arthritis	OMIM:266270
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Meckel Syndrome, Type 10	Renal cyst, Hypospadias, Micropenis	OMIM:614175
Igg4-Related Kidney Disease	Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Abnormal ureter morpho...	ORPHA:449395
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Pachydermoperiostosis	Thickened skin, Osteomyelitis, Arthritis, Edema, Joint swelling, Eczematoid dermatitis, Palmoplan...	ORPHA:2796
Syndromic Diarrhea	Renal hypoplasia, Polycystic kidney dysplasia, Splenomegaly, Hepatomegaly	ORPHA:84064
Wolfram Syndrome 1	Hypothyroidism, Diabetes insipidus, Neurogenic bladder, Hydroureter, Testicular atrophy, Diabetes...	OMIM:222300
Acrorenal-Mandibular Syndrome	Polycystic kidney dysplasia, Abnormality of the ureter, Renal agenesis, Aplasia of the bladder	OMIM:200980
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Alg9-Cdg	Hypoplasia of the bladder, Enlarged kidney, Ureteral hypoplasia, Hepatomegaly, Abnormal renal art...	ORPHA:79328
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Sensorineural hearing impairment, Erythema nodosum, Arthritis, Ski...	OMIM:611762
Distal Monosomy 12Q	Vesicoureteral reflux, Congenital hypertrophy of left ventricle, Polycystic kidney dysplasia, Ect...	ORPHA:96149
Coach Syndrome 1	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Unilateral renal agenesis, ...	OMIM:216360
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Perioral erythema, Pustule, Erythroderma, Blepharitis	OMIM:614328
Orofaciodigital Syndrome I	Pancreatic cysts, Polycystic kidney dysplasia, Hepatic cysts, Ovarian cyst, Proteinuria	OMIM:311200
Stevens-Johnson Syndrome	Acantholysis, Pancreatitis, Erythema, Conjunctivitis	ORPHA:36426
Oculocutaneous Albinism	Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ...	ORPHA:55
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Stage 5 chronic kidney disease, Enlarged kidney, Polycystic ovaries, Proteinuria, Hepatomegaly, N...	ORPHA:79259
Renal Cysts And Diabetes Syndrome	Stage 5 chronic kidney disease, Glycosuria, Abnormality of the kidney, Decreased numbers of nephr...	OMIM:137920
Hereditary Acrokeratotic Poikiloderma	Irregular hyperpigmentation, Ichthyosis, Keratoconjunctivitis, Skin ulcer, Palmoplantar hyperkera...	ORPHA:2907
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of skin pigmentation, Cutis laxa, Long toe, Arachnodactyly, Palmoplantar cutis gyrata	ORPHA:75496
Hemochromatosis, Type 1	Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame...	OMIM:235200
Fixed Drug Eruption	Hyperpigmentation of the skin, Stomatitis, Erythema, Crusting erythematous dermatitis	ORPHA:293812
Eec Syndrome	Sensorineural hearing impairment, Generalized hypopigmentation, Inflammatory abnormality of the e...	ORPHA:1896
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst, Hepatomegaly	OMIM:614862
Muckle-Wells Syndrome	Conjunctivitis, Recurrent aphthous stomatitis, Ichthyosis, Skin rash, Arthritis, Progressive sens...	ORPHA:575
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Pruritus, Osteomyelitis, Skin rash, Arthritis, Inflammation of the large intestine, Edema, Psoria...	ORPHA:324964
Drug Reaction With Eosinophilia And Systemic Symptoms	Tubulointerstitial nephritis, Angioedema, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumon...	ORPHA:139402
Majeed Syndrome	Skin rash, Osteomyelitis, Joint swelling, Inflammatory abnormality of the skin	OMIM:609628
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Thickened skin, Seborrheic dermatitis, Acne	OMIM:614441
Bazex Syndrome	Hyperpigmentation of the skin, Acne inversa, Eczema, Atopic dermatitis	OMIM:301845
Hajdu-Cheney Syndrome	Renal cyst, Polycystic kidney dysplasia, Hypospadias	OMIM:102500
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Erythema	ORPHA:703
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Facial erythema, Macrotia, Ichthyosis, Low-set ears, Cutis laxa, Recurrent otitis media, Oligohyd...	OMIM:619503
Cinca Syndrome	Lymphedema, Skin rash, Arthritis, Progressive sensorineural hearing impairment, Uveitis, Eosinoph...	OMIM:607115
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Renal malrotation, Enlarged kidney	ORPHA:500095
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Low-set ears, Abnormality of skin pigmentation, Sandal gap, Brachydactyly	ORPHA:2180
Autosomal Dominant Cerebellar Ataxia	Hyperkeratosis, Sensorineural hearing impairment, Pigmentary retinopathy, Erythema	ORPHA:99
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polycystic kidney dysplasia, Micropenis	OMIM:263520
Meckel Syndrome, Type 3	Multicystic kidney dysplasia, Hepatomegaly	OMIM:607361
Nephronophthisis 11	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base...	OMIM:613550
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Mucopolysacchariduria, Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:252500
Bardet-Biedl Syndrome 17	Stage 5 chronic kidney disease, Polyuria, Renal cyst, Micropenis	OMIM:615994
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Disseminated molluscum contagiosum, Bronchiectasis, Eosinophilic infiltration of the esophagus, R...	OMIM:243700
Pyoderma Gangrenosum	Skin vesicle, Rheumatoid arthritis, Skin ulcer, Myositis, Inflammation of the large intestine, Pu...	ORPHA:48104
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Sinusitis, Recurrent otitis media, Inflammatory abnormality of the skin	ORPHA:277
Hypocomplementemic Urticarial Vasculitis	Conjunctivitis, Angioedema, Irregular hyperpigmentation, Sensorineural hearing impairment, Perica...	ORPHA:36412
B4Galt1-Cdg	Low-set ears, Edema, Redundant neck skin, Inflammatory abnormality of the skin	ORPHA:79332
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Abnormal localization of kidney,...	ORPHA:1834
Caroli Syndrome	Abnormality of the kidney, Polycystic kidney dysplasia, Hepatomegaly	ORPHA:480520
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, Hearing impairment	OMIM:615510
Pten Hamartoma Tumor Syndrome	Freckling, Hyperkeratotic papule	ORPHA:306498
Warburg-Cinotti Syndrome	Conductive hearing impairment, Cholesteatoma, Joint swelling, Hypoplasia of the ear cartilage, Er...	OMIM:618175
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Conjunctivitis, Hypopigmentation of the skin, Rhinitis, Inflammatory abnormality of the skin, Ski...	ORPHA:95455
De Sanctis-Cacchione Syndrome	Conjunctivitis, Sensorineural hearing impairment, Parakeratosis, Hypermelanotic macule, Keratitis	OMIM:278800
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology	ORPHA:398189
Beckwith-Wiedemann Syndrome	Nephroblastoma, Vesicoureteral reflux, Splenomegaly, Congenital megaureter, Enlarged kidney, Neph...	ORPHA:116
Premature Aging Syndrome, Penttinen Type	Thickened skin, Sensorineural hearing impairment, Corneal stromal edema, Palmoplantar hyperkerato...	OMIM:601812
Floating-Harbor Syndrome	Congenital posterior urethral valve, Stage 5 chronic kidney disease, Polycystic kidney dysplasia,...	ORPHA:2044
Yao Syndrome	Inflammatory abnormality of the skin, Arthritis, Skin rash, Keratoconjunctivitis sicca, Pericardi...	OMIM:617321
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Polycystic kidney dysplasia, Cystic renal dysplasia, Renal agenesis, A...	OMIM:249000
Congenital Disorder Of Glycosylation, Type Ib	Renal cyst, Proximal tubulopathy, Hepatomegaly	OMIM:602579
Parkes Weber Syndrome	Scaling skin, Abnormality of the upper limb, Skin ulcer, Hypertrophy of the upper limb	ORPHA:90307
Ogden Syndrome	Enlarged kidney, Polycystic kidney dysplasia, Cardiomegaly, Global glomerulosclerosis	OMIM:300855
22Q11.2 Deletion Syndrome	Vesicoureteral reflux, Polycystic kidney dysplasia, Hypospadias, Multiple renal cysts, Renal hypo...	ORPHA:567
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Eczema, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Low-set ears, Pru...	ORPHA:83617
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash...	ORPHA:275
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomegaly	OMIM:261740
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypopigmentation of the skin, Depigmentation/hyperpigmentation of skin, Erythema, Recurrent skin ...	ORPHA:79396
Gjc2-Related Late-Onset Primary Lymphedema	Pedal edema, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Recurrent skin in...	ORPHA:568051
Chime Syndrome	Ichthyosis, Skin ulcer, Erythema, Hyperkeratosis, Hearing impairment	ORPHA:3474
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Renal cyst, Multicystic kidney dysplasia	ORPHA:2031
Waardenburg Syndrome	Conductive hearing impairment, Abnormality of skin pigmentation, Premature graying of hair, Hypop...	ORPHA:3440
Immunodeficiency 55	Dry skin, Ichthyosis, Eczema, Recurrent skin infections	OMIM:617827
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Polyhydramnios, Conductive hearing impairment, Cutis laxa, Mixed hearing impairment, Follicular h...	OMIM:614557
Vexas Syndrome	Sensorineural hearing impairment, Inflammatory abnormality of the skin, Arthritis, Neutrophilic i...	OMIM:301054
Roberts Syndrome	Polycystic kidney dysplasia, Long penis	ORPHA:3103
Adult-Onset Still Disease	Hepatitis, Skin rash, Arthritis, Pericarditis, Joint swelling, Erythema, Pruritus, Myocarditis	ORPHA:829
Autosomal Dominant Hyper-Ige Syndrome	Skin vesicle, Osteomyelitis, Skin rash, Skin ulcer, Eczema, Eosinophilia, Pruritus, Chronic otiti...	ORPHA:2314
Cronkhite-Canada Syndrome	Abnormality of skin pigmentation, Tapered finger, Generalized hyperpigmentation	ORPHA:2930
Bardet-Biedl Syndrome 12	Hydroureter, Cystic renal dysplasia, Hydronephrosis	OMIM:615989
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Thickened skin, Seborrheic dermatitis, Acne	OMIM:167100
Hennekam-Beemer Syndrome	Camptodactyly of finger, Irregular hyperpigmentation, Conductive hearing impairment, Abnormality ...	ORPHA:2135
Leprechaunism	Enlarged kidney, Long penis, Hepatomegaly, Enlarged ovaries, Nephrocalcinosis, Hypercalciuria	ORPHA:508
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hydroureter, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Hypercalciuria	OMIM:615398
Periodic Fever, Familial, Autosomal Dominant	Conjunctivitis, Oligoarthritis, Skin rash, Erysipelas, Myositis, Periorbital edema, Maculopapular...	OMIM:142680
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Antisynthetase Syndrome	Lack of skin elasticity, Skin rash, Keratoconjunctivitis sicca, Myositis, Edema, Xerostomia, Prur...	ORPHA:81
Majeed Syndrome	Osteomyelitis, Inflammatory abnormality of the skin, Synovitis, Pustule, Edema, Abnormal inflamma...	ORPHA:77297
Hermansky-Pudlak Syndrome 9	Recurrent skin infections, Hypopigmentation of the skin, Ocular albinism	OMIM:614171
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Polycystic kidney dysplasia, Renal cyst, Stillbirth, Renal hypoplasia, Micropenis	OMIM:210710
3-Methylglutaconic Aciduria Type 7	Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Renal insufficiency	ORPHA:445038
American Trypanosomiasis	Skin rash, Pallor, Edema, Periorbital edema, Infectious encephalitis, Myocarditis	ORPHA:3386
Aarskog-Scott Syndrome	Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a...	OMIM:305400
Porphyria	Abnormality of skin pigmentation, Dupuytren contracture	ORPHA:738
Rothmund-Thomson Syndrome	Malar rash, Hypopigmentation of the skin, Skin rash, Porokeratosis, Plantar hyperkeratosis, Palma...	ORPHA:2909
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Bronchiectasis, Skin rash, Inflammation of the large intestine, Gastritis	OMIM:618108
Systemic-Onset Juvenile Idiopathic Arthritis	Juvenile rheumatoid arthritis, Skin rash, Pericarditis, Pleural effusion, Joint swelling, Anterio...	ORPHA:85414
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Renal agenesis, Horseshoe kidney, Hepatomegaly, Cardiomegaly	OMIM:306955
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Enuresis nocturna, Recurrent urinary tract infections	OMIM:615873
Femoral-Facial Syndrome	Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Renal agenesis, Micropenis	OMIM:134780
Inflammatory Bowel Disease 25, Autosomal Recessive	Pancolitis, Enterocolitis, Perianal abscess, Folliculitis	OMIM:612567
Campomelia, Cumming Type	Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts, Hepatomegaly	ORPHA:1318
Meckel Syndrome, Type 6	Renal cyst, Hepatic cysts, Horseshoe kidney, Aplasia of the bladder	OMIM:612284
Mixed Connective Tissue Disease	Skin rash, Arthritis, Keratoconjunctivitis sicca, Purpura, Pericarditis, Scleroderma, Myositis, G...	ORPHA:809
Sapho Syndrome	Osteomyelitis, Enthesitis, Skin rash, Arthritis, Synovitis, Inflammation of the large intestine, ...	ORPHA:793
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Conjunctivitis, Macrotia, Ichthyosis, Scleritis, Eczema, Uveitis, Erythema, Episcleritis, Keratit...	ORPHA:2273
Leprosy	Iritis, Uveitis, Acral ulceration, Penetrating foot ulcers, Hyperkeratosis	ORPHA:548
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchiectasis, Allergic rhinitis, Rheumatoid arthritis, Skin rash, Arthritis, Chronic sinusitis,...	ORPHA:183675
Meckel Syndrome, Type 7	Pancreatic cysts, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Hepatosplenomegal...	OMIM:267010
Chikungunya	Pedal edema, Skin vesicle, Pruritus, Petechiae, Crusting erythematous dermatitis, Enthesitis, Ski...	ORPHA:324625
Dyskeratosis Congenita, Autosomal Recessive 6	Abnormality of skin pigmentation	OMIM:616353
Uremic Pruritus	Recurrent skin infections, Pruritus, Dry skin, Inflammatory abnormality of the skin	ORPHA:94059
Msh3-Related Attenuated Familial Adenomatous Polyposis	Renal cyst, Ovarian dermoid cyst	ORPHA:480536
Microscopic Polyangiitis	Skin rash, Arthritis, Skin ulcer, Uveitis, Pericarditis, Sinusitis, Erythema, Episcleritis, Perit...	ORPHA:727
Cholestasis-Lymphedema Syndrome	Abnormality of skin pigmentation	ORPHA:1414
Trisomy 13	Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral meatus, Hydronephrosis	ORPHA:3378
Bardet-Biedl Syndrome	Multicystic kidney dysplasia, Hypoplasia of penis, Nephrotic syndrome	ORPHA:110
Congenital Bile Acid Synthesis Defect Type 2	Renal cyst, Dark urine, Hepatomegaly	ORPHA:79303
Proteasome-Associated Autoinflammatory Syndrome 3	Conjunctivitis, Skin rash, Arthritis, Periorbital edema, Myositis, Sinusitis, Panniculitis, Acant...	OMIM:617591
Distal Renal Tubular Acidosis	Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Renal c...	ORPHA:18
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Multicystic kidney dysplasia, Ureterocele	ORPHA:261265
Lesch-Nyhan Syndrome	Nephrocalcinosis, Testicular atrophy, Nephrolithiasis, Hyperuricosuria	OMIM:300322
Meckel Syndrome, Type 4	Renal cyst	OMIM:611134
Symptomatic Form Of Hemochromatosis Type 1	Hypothyroidism, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mellitus, Decreas...	ORPHA:465508
Immunodeficiency 81	Skin rash, Recurrent cutaneous abscess formation, Petechiae	OMIM:619374
Sweet Syndrome	Oligoarthritis, Skin vesicle, Pyoderma gangrenosum, Acne inversa, Myositis, Inflammation of the l...	ORPHA:3243
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Fanconi Anemia, Complementation Group A	Absent thumb, Abnormality of skin pigmentation, Cafe-au-lait spot, Complete duplication of thumb ...	OMIM:227650
Koolen-De Vries Syndrome Due To A Point Mutation	Hypopigmentation of the skin, Macrotia, Ichthyosis, Cafe-au-lait spot, Fair hair, Eczema, Recurre...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypopigmentation of the skin, Macrotia, Ichthyosis, Cafe-au-lait spot, Fair hair, Eczema, Recurre...	ORPHA:363958
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Acute kidney injury, Renal cell carcinoma, Renal ag...	ORPHA:93111
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Recurrent bacterial skin infections, Chronic oral candidiasis, Skin rash, Stomatit...	ORPHA:911
Blau Syndrome	Erythema nodosum, Iritis, Arthritis, Synovitis, Skin ulcer, Eczema, Uveitis, Pericarditis, Nongra...	OMIM:186580
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia	OMIM:619980
Woodhouse-Sakati Syndrome	Scaling skin, Protruding ear, Bilateral sensorineural hearing impairment	ORPHA:3464
Cystic Echinococcosis	Renal cyst, Hepatomegaly, Hepatic cysts, Ovarian cyst, Membranous nephropathy	ORPHA:400
Melkersson-Rosenthal Syndrome	Edema, Periorbital edema, Cheilitis, Inflammatory abnormality of the skin	ORPHA:2483
Chronic Granulomatous Disease	Inflammatory abnormality of the eye, Skin ulcer, Eczema, Sinusitis, Otitis media, Hypermelanotic ...	ORPHA:379
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Hypoplasia of the bladder, Recurrent urinary tract infections, Stag...	OMIM:614527
Peutz-Jeghers Syndrome	Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts, Enlarged polycystic ovaries	ORPHA:2869
Pgm3-Cdg	Conductive hearing impairment, Sensorineural hearing impairment, Mild neurosensory hearing impair...	ORPHA:443811
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Tubulointerstitial nephritis, Osteomyelitis, Crusting erythematous dermatitis, Hepatitis, Inflamm...	ORPHA:37042
Vacterl/Vater Association	Multicystic kidney dysplasia, Renal agenesis, Hypoplasia of penis, Ectopic kidney, Hypospadias, A...	ORPHA:887
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia, Renal agenesis	OMIM:220500
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Renal cyst, Horseshoe kidney	ORPHA:166035
Fabry Disease	Sensorineural hearing impairment, Lymphedema, Arthritis, Hyperkeratosis, Hearing impairment	ORPHA:324
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thickened skin, Epidermal thickening, Orthokeratotic hyperkeratosis, Depigmentation/hyperpigmenta...	ORPHA:73223
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Renal cyst, Ectopic kidney, Renal hypoplasia, Distal urethral dupli...	OMIM:146510
Peroxisome Biogenesis Disorder 1B	Renal cyst, Hyperoxaluria, Hepatomegaly	OMIM:601539
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia	OMIM:618829
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Estrogen Resistance	Acne, Acanthosis nigricans	OMIM:615363
Harrod Syndrome	Hypospadias, Multicystic kidney dysplasia	ORPHA:2115
Kleefstra Syndrome	Vesicoureteral reflux, Hypoplasia of penis, Renal cyst, Hypospadias, Renal insufficiency, Micrope...	ORPHA:261494
Hypocalciuric Hypercalcemia, Familial, Type Iii	Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re...	OMIM:600740
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Recurrent pneumonia, Palmoplantar cutis laxa, Follicular hyperkeratosis, Excessive wrinkled skin	OMIM:225400
Blau Syndrome	Ichthyosis, Iridocyclitis, Erythema nodosum, Skin rash, Synovitis, Skin ulcer, Pericarditis, Retr...	ORPHA:90340
Transketolase Deficiency	Renal cyst, Hepatomegaly, Increased level of ribose in urine	ORPHA:488618
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Generalized hypopigmentation, Microtia, Fair hair, Blue irides, Xerostomia, Hyperkeratosis, Heari...	OMIM:604292
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Conjunctivitis, Skin rash, Fasciitis, Arthritis, Uveitis, Erysipelas, Pericarditis, Myositis, Per...	ORPHA:32960
Ulbright-Hodes Syndrome	Renal hypoplasia, Polycystic kidney dysplasia, Abnormal penis morphology	ORPHA:3404
Mody	Renal cyst, Abnormality of the kidney, Nephropathy, Glycosuria	ORPHA:552
Penile Agenesis	Absent penis, Bilateral renal agenesis, Urethral fistula, Hydroureter, Cystic renal dysplasia, Ab...	ORPHA:49
Trisomy 1Q	Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis	ORPHA:261344
Immunoglobulin A Vasculitis	Angioedema, Skin rash, Arthritis, Skin ulcer, Purpura, Pustule, Edema, Erythema, Episcleritis, In...	ORPHA:761
Simpson-Golabi-Behmel Syndrome, Type 1	Nephroblastoma, Enlarged kidney, Renal cyst, Duplication of renal pelvis, Hypospadias, Hepatomega...	OMIM:312870
Joubert Syndrome 14	Renal cyst	OMIM:614424
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Conductive hearing impairment, Generalized hypopigmentation, Microtia, Fair hair, Blue irides, Xe...	OMIM:129900
6Q Terminal Deletion Syndrome	Low-set, posteriorly rotated ears, Hyperkeratosis	ORPHA:75857
Radio-Renal Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia	ORPHA:3015
Cowden Syndrome	Melanocytic nevus, Hypopigmented skin patches, Multiple cafe-au-lait spots, Generalized hyperkera...	ORPHA:201
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Hydroureter, Multicystic kidney dysplasia, Megacystis	ORPHA:2241
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Genitopalatocardiac Syndrome	Hypospadias, Multicystic kidney dysplasia	ORPHA:2075
Zellweger Syndrome	Hypospadias, Multicystic kidney dysplasia, Hepatomegaly, Hydronephrosis	ORPHA:912
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Skin ulcer, Urinary bladder inflammation, Orchit...	ORPHA:556
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo...	OMIM:157640
Mosaic Variegated Aneuploidy Syndrome 1	Nephroblastoma, Multicystic kidney dysplasia, Renal cyst, Hypospadias, Micropenis	OMIM:257300
Mosaic Trisomy 1	Renal cyst, Penile hypospadias, Renal cortical cysts, Micropenis	ORPHA:1692
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Horseshoe kidney	OMIM:250410
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Patent urachus, Micropenis	OMIM:618280
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Urinary retention, Recurrent urinary tract infections, Dysuria, Hyd...	ORPHA:79404
Von Hippel-Lindau Syndrome	Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma, Epididymal cyst	OMIM:193300
Trisomy 20P	Abnormality of the kidney, Abnormality of the ureter, Hypospadias, Multiple renal cysts, Abnormal...	ORPHA:261318
Congenital Disorder Of Glycosylation, Type Ia	Proximal tubulopathy, Nephrotic syndrome, Renal cyst, Hepatomegaly, Proteinuria	OMIM:212065
Hyperparathyroidism-Jaw Tumor Syndrome	Nephroblastoma, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency, Nephrolithias...	ORPHA:99880
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Arthritis, Iritis, Epididymitis, Erythema	OMIM:109650
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pancreatic cysts, Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Chronic kidney disease	OMIM:208500
Marden-Walker Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia/aplasia, Hydroure...	ORPHA:2461
Mckusick-Kaufman Syndrome	Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Urethral strict...	ORPHA:2473
Joubert Syndrome 2	Nephronophthisis, Renal insufficiency, Renal cyst	OMIM:608091
Roberts-Sc Phocomelia Syndrome	Polycystic kidney dysplasia, Long penis, Hypospadias, Horseshoe kidney, Stillbirth	OMIM:268300
Joubert Syndrome 21	Renal cyst, Hyperechogenic kidneys	OMIM:615636
Parathyroid Carcinoma	Nephroblastoma, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency, Nephrolithias...	ORPHA:143
Khan-Khan-Katsanis Syndrome	Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Ureteral duplication, Hydronephrosis	OMIM:618460
Zinc Deficiency, Transient Neonatal	Eczema	OMIM:608118
Fanconi Anemia, Complementation Group D2	Aplasia of the 1st metacarpal, Absent thumb, Abnormality of skin pigmentation, Cafe-au-lait spot,...	OMIM:227646
Idiopathic Hypereosinophilic Syndrome	Angioedema, Erythroderma, Inflammatory abnormality of the skin, Arthritis, Eczema, Cholangitis, P...	ORPHA:3260
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal cyst, Renal hypoplasia, Stillbirth	OMIM:616300
Cornelia De Lange Syndrome 1	Vesicoureteral reflux, Renal cyst, Reduced renal corticomedullary differentiation, Hypospadias, E...	OMIM:122470
Ablepharon Macrostomia Syndrome	Camptodactyly of finger, Abnormality of skin pigmentation, Microtia, Toe syndactyly, Excessive wr...	ORPHA:920
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Congenital megaureter, Renal dysplasia, Renal cyst, Abnormality of the urinary system, Nephrocalc...	ORPHA:369837
3Q29 Microdeletion Syndrome	Abnormality of skin pigmentation, Macrotia, Tapered finger, Clinodactyly of the 5th finger, Low-s...	ORPHA:65286
Developmental Delay With Or Without Dysmorphic Facies And Autism	Vesicoureteral reflux, Microphallus, Renal cyst, Renal hypoplasia, Hydronephrosis	OMIM:618454
Atypical Werner Syndrome	Lack of skin elasticity, Patchy hypo- and hyperpigmentation, Premature graying of hair, Skin ulce...	ORPHA:79474
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal cyst, Renal dysplasia	OMIM:617260
2Q37 Microdeletion Syndrome	Nephroblastoma, Multicystic kidney dysplasia	ORPHA:1001
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Multiple renal cysts, Horseshoe kidney, Hydronephrosis	ORPHA:99776
Kyphoscoliotic Ehlers-Danlos Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Low-set ears, Follicular hyperke...	ORPHA:536545
Structural Heart Defects And Renal Anomalies Syndrome	Renal cyst, Renal insufficiency	OMIM:617478
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Joubert Syndrome With Hepatic Defect	Multicystic kidney dysplasia, Nephropathy, Hepatomegaly, Renal insufficiency, Splenomegaly	ORPHA:1454
Familial Tumoral Calcinosis	Skin rash, Erythema, Hypopigmented skin patches	ORPHA:53715
Familial Mediterranean Fever	Pedal edema, Skin rash, Arthritis, Erysipelas, Pericarditis, Erythema, Orchitis, Ascites, Periton...	ORPHA:342
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Skin rash, Chronic mucocutaneous candidiasis, Recurrent pne...	OMIM:102700
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Thauvin-Robinet-Faivre Syndrome	Nephroblastoma, Bifid ureter, Renal dysplasia, Renal malrotation, Renal cyst	OMIM:617107
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Renal cyst, Hypospadias, Pelvic kidney, Micropenis, Hydronephrosis	ORPHA:464311
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Pancreatic cysts, Renal dysplasia, Acute kidney injury, Stage 5 chronic kidney disease, Hepatospl...	OMIM:266920
Tuberous Sclerosis 1	Renal cyst, Renal cell carcinoma, Renal angiomyolipoma	OMIM:191100
Tuberous Sclerosis 2	Renal cyst, Renal cell carcinoma, Renal angiomyolipoma, Absence of renal corticomedullary differe...	OMIM:613254
Dyskeratosis Congenita, Digenic	Abnormality of skin pigmentation, Abnormal palmar dermatoglyphics	OMIM:620040
Joubert Syndrome 1	Renal cyst, Nephropathy	OMIM:213300
Genitopatellar Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:85201
Alveolar Echinococcosis	Renal cyst, Pancreatic cysts, Hepatic cysts, Abnormality of bladder morphology	ORPHA:284
Proteus Syndrome	Irregular hyperpigmentation, Macrotia, Thickened skin, Abnormality of skin pigmentation, Melanocy...	ORPHA:744
Fryns Syndrome	Vesicoureteral reflux, Hypospadias, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:2059
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia	ORPHA:3301
Primary Triglyceride Deposit Cardiomyovasculopathy	Sensorineural hearing impairment, Ichthyosis, Pancreatitis, Inflammatory abnormality of the skin	ORPHA:565612
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:261349
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Renal cyst, Hypospadias, Pelvic kidney, Micropenis, Hydronephrosis	ORPHA:464306
Short-Rib Thoracic Dysplasia 12	Cystic renal dysplasia, Hepatomegaly, Renal hypoplasia, Neonatal death, Splenomegaly	OMIM:269860
Atelosteogenesis Type I	Multiple renal cysts	ORPHA:1190
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia	ORPHA:261197
D-Bifunctional Protein Deficiency	Renal cyst, Splenomegaly, Hepatomegaly	OMIM:261515
X-Linked Intellectual Disability, Snyder Type	Ectopic kidney, Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism	ORPHA:3063
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Crossed fused renal ectopia, Renal dysplasia, Renal hypoplasia/apla...	ORPHA:2538
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pericardial effusion, Pneumonia, Inflammatory abnormality of the skin	ORPHA:26793
Refractory Celiac Disease	Inflammatory abnormality of the skin	ORPHA:398063
Pseudoxanthoma Elasticum	Civatte bodies, Cutis laxa	OMIM:264800
Focal Dermal Hypoplasia	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney, Hydronephrosis	ORPHA:2092
Postinfectious Vasculitis	Bacterial endocarditis, Inflammatory abnormality of the skin, Arthritis, Gastrointestinal inflamm...	ORPHA:48435
Fryns Syndrome	Renal agenesis, Renal cyst, Hypospadias, Stillbirth, Ureteral duplication, Hydronephrosis	OMIM:229850
Histiocytoid Cardiomyopathy	Renal cyst, Cardiomegaly, Polycystic ovaries, Hepatomegaly	ORPHA:137675
Smith-Lemli-Opitz Syndrome	Splenomegaly, Renal agenesis, Unilateral renal agenesis, Renal cyst, Hypospadias, Penoscrotal hyp...	OMIM:270400
Ring Chromosome 7 Syndrome	Small earlobe, Abnormality of skin pigmentation, Cafe-au-lait spot, Prominent crus of helix, Shor...	ORPHA:1449
Plague	Lymphadenitis, Endocarditis, Enterocolitis, Erythema nodosum, Skin rash, Inflammatory abnormality...	ORPHA:707
Reynolds Syndrome	Sclerodactyly, Scleroderma, Pruritus, Erythema nodosum	OMIM:613471
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Enterocolitis, Bronchiectasis, Inflammatory abnormality of the skin, Hepatitis, Thyroiditis, Ecze...	ORPHA:391487
Lymphangioleiomyomatosis	Renal angiomyolipoma, Hematuria, Renal neoplasm, Abnormal urinary color, Multiple renal cysts	ORPHA:538
Alkaptonuria	Irregular hyperpigmentation, Abnormality of skin pigmentation	ORPHA:56
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Renal cyst, Vesicoureteral reflux, Hypospadias	OMIM:616975
Pearson Syndrome	Glycosuria, Lacticaciduria, Renal cyst, Proteinuria, Hepatomegaly, Renal insufficiency, Splenomegaly	ORPHA:699
Alagille Syndrome 1	Vesicoureteral reflux, Multiple small medullary renal cysts, Renal tubular acidosis, Renal dyspla...	OMIM:118450
Schinzel-Giedion Syndrome	Nephroblastoma, Renal cyst, Abnormality of the ureter, Hypospadias, Nephrolithiasis, Micropenis, ...	ORPHA:798
Steinert Myotonic Dystrophy	Decreased fertility, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Imp...	ORPHA:273
Cranioectodermal Dysplasia 2	Left ventricular hypertrophy, Renal cyst, Hepatomegaly, Renal insufficiency, Splenomegaly	OMIM:613610
Simpson-Golabi-Behmel Syndrome	Nephroblastoma, Splenomegaly, Multicystic kidney dysplasia, Hydroureter, Hypoplasia of penis, Hyp...	ORPHA:373
Cerebrocostomandibular Syndrome	Renal cyst, Horseshoe kidney, Ectopic kidney	OMIM:117650
Von Hippel-Lindau Disease	Pancreatic cysts, Elevated urinary catecholamines, Renal cell carcinoma, Epididymal cyst, Multipl...	ORPHA:892
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Glomerulopathy, Abnormal renal tubule morphology, Hematuria, Proximal renal tubula...	ORPHA:534
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Displacement of the urethral meatus	ORPHA:1556
Orofaciodigital Syndrome Type 1	Pancreatic cysts, Multicystic kidney dysplasia, Proteinuria, Renal insufficiency, Hydronephrosis	ORPHA:2750
Leukocyte Adhesion Deficiency	Conjunctivitis, Recurrent aphthous stomatitis, Osteomyelitis, Perianal abscess, Bronchiectasis, C...	ORPHA:2968
Ring Chromosome 13 Syndrome	Aplasia/hypoplasia involving bones of the hand, Abnormality of skin pigmentation, Macrotia, Cafe-...	ORPHA:96176
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias, Uretero...	ORPHA:818
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia	ORPHA:1393
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Hypoplasia of penis, Hydronephrosis	ORPHA:1507
Hajdu-Cheney Syndrome	Hypospadias, Multiple renal cysts, Splenomegaly, Hepatomegaly	ORPHA:955
Mosaic Variegated Aneuploidy Syndrome	Nephroblastoma, Multicystic kidney dysplasia	ORPHA:1052
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia	OMIM:300373
Trisomy 10P	Abnormality of the kidney, Multiple renal cysts	ORPHA:171929
Pagod Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:991
Meckel Syndrome	Pancreatic cysts, Urethral atresia, Multicystic kidney dysplasia, Ureteral duplication	ORPHA:564
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Renal cyst, Hypospadias	ORPHA:495875
1P36 Deletion Syndrome	Abnormality of the kidney, Hypoplasia of penis, Renal cyst, Hypospadias, Hydronephrosis	ORPHA:1606
Distal Monosomy 15Q	Abnormal localization of kidney, Hypospadias, Multicystic kidney dysplasia, Micropenis	ORPHA:1596
Jacobsen Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:2308
Robinow Syndrome	Webbed penis, Multicystic kidney dysplasia, Micropenis, Hydronephrosis	ORPHA:97360
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Micropenis, Hydronephrosis	OMIM:615287
Williams Syndrome	Vesicoureteral reflux, Renal duplication, Cardiomegaly, Recurrent urinary tract infections, Hypop...	ORPHA:904
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Urethrovaginal fistula, Hypoplasia of penis, Renal cyst, Renal hypoplasia, Hydronephrosis	ORPHA:93271
Townes-Brocks Syndrome	Vesicoureteral reflux, Urethral valve, Abnormality of the kidney, Hypoplasia of penis, Ectopic ki...	ORPHA:857
C Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney	ORPHA:1308
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Multiple renal cysts, Horseshoe kidney, Micr...	ORPHA:3310
Fraser Syndrome	Urethral atresia, Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Renal hypoplasia	ORPHA:2052
Townes-Brocks Syndrome 1	Vesicoureteral reflux, Multicystic kidney dysplasia, Urethral valve, Renal dysplasia, Hypospadias...	OMIM:107480
Peters Plus Syndrome	Renal duplication, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hypospadias, Ureteral ...	ORPHA:709
Cornelia De Lange Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Renal insu...	ORPHA:199
Branchiooculofacial Syndrome	Renal cyst, Hypospadias, Renal agenesis	OMIM:113620
Genitopatellar Syndrome	Multicystic kidney dysplasia, Micropenis, Hydronephrosis	OMIM:606170
Mowat-Wilson Syndrome	Urinary incontinence, Vesicoureteral reflux, Multicystic kidney dysplasia, Hydronephrosis, Renal ...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Vesicoureteral reflux, Multicystic kidney dysplasia, Hydronephrosis, Renal ...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Vesicoureteral reflux, Multicystic kidney dysplasia, Hydronephrosis, Renal ...	ORPHA:261552
Pallister-Killian Syndrome	Renal cyst, Hypospadias, Stillbirth, Renal dysplasia	OMIM:601803
Craniofacial Microsomia	Vesicoureteral reflux, Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Ureteropelvi...	OMIM:164210
Pmm2-Cdg	Abnormal renal tubule morphology, Proteinuria, Multiple renal cysts, Nephrotic syndrome	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

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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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

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