Gene Summary

Name:
chemokine (C-X-C motif) ligand 17
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart morphology Cxcl17tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal uterus morphology Cxcl17tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal coat/hair pigmentation Cxcl17tm1b(EUCOMM)Wtsi HOM   Early adult 2.16×10-07
abnormal skin morphology Cxcl17tm1b(EUCOMM)Wtsi HOM Early adult 0.00
enlarged uterus Cxcl17tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased mean platelet volume Cxcl17tm1b(EUCOMM)Wtsi HOM Early adult 9.21×10-06
abnormal kidney morphology Cxcl17tm1b(EUCOMM)Wtsi HOM Early adult 0.00
enlarged heart Cxcl17tm1b(EUCOMM)Wtsi HOM Early adult 0.00

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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 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Testis  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 Not available
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
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 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
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
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 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
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

10 Images

Human diseases caused by Cxcl17 mutations

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

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

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

The table below shows human diseases predicted to be associated to Cxcl17 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Ethanolaminosis
Cardiomegaly OMIM:227150
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Giant platelets, Congenit... ORPHA:182050
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Ovarian Dysgenesis 2
Hirsutism, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogona... OMIM:300510
Fechtner syndrome
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... OMIM:153640
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Abnormal number of dense granules, Hypopigmentation of the skin OMIM:614072
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Syndromic Diarrhea
Thrombocytosis, Renal hypoplasia, Increased mean platelet volume, Bicuspid aortic valve, Ventricu... ORPHA:84064
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hepatosplenomegaly, Accumulation of melanosomes i... OMIM:607624
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Spars... ORPHA:754
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... ORPHA:189
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Pelger-Huet Anomaly
Ventricular septal defect, Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, T... OMIM:169400
Microphthalmia, Syndromic 12
Ventricular septal defect, Bicornuate uterus, Cryptorchidism, Hypoplastic left atrium OMIM:615524
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Low posterior hairline, Bicornuate uterus, Ectopic... ORPHA:2578
Takenouchi-Kosaki Syndrome
Hypospadias, Highly arched eyebrow, Hydronephrosis, Increased mean platelet volume, Sparse eyebro... OMIM:616737
Trichohepatoenteric Syndrome 1
Hypospadias, Thrombocytosis, Fine hair, Increased mean platelet volume, Ventricular septal defect... OMIM:222470
White Forelock With Malformations
Poliosis, White forelock, Atrial septal defect OMIM:277740
Rudiger Syndrome
Ureterovesical stenosis, Bicornuate uterus, Micropenis, Hypoplastic fingernail, Ovarian cyst OMIM:268650
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Premature Ovarian Failure 7
Clitoral hypertrophy, Premature ovarian insufficiency, Absent pubic hair, Gonadal dysgenesis, Hyp... OMIM:612964
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Cryptorchidism, Macrothrombocytopenia, Anemia o... ORPHA:67044
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Neutropenia ORPHA:90023
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypospadias, Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Abnormality of the uterus, Multicystic kidney dysplasia, Vesico... OMIM:617805
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
46,Xy Sex Reversal 3
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... OMIM:612965
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... OMIM:210250
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Amed Syndrome, Digenic
Leukopenia, Hyperpigmentation of the skin, Anemia, Acute myeloid leukemia, Thrombocytopenia, Hypo... OMIM:619151
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decreased testicular size... OMIM:614837
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Absent pubic hair, Cryptorchi... OMIM:614841
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Hirsutism, Unilateral renal agen... OMIM:158330
Complete Androgen Insensitivity Syndrome
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... ORPHA:99429
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hirsutism, Frontal balding, Hypoplasia of t... ORPHA:247768
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Infantile Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Vacuolated lymphocytes, Cardiomegaly, Hypopigmentation of the s... OMIM:269920
Ehlers-Danlos Syndrome, Classic-Like
Mitral valve prolapse, Quadricuspid aortic valve, Ambiguous genitalia, female, Unilateral renal a... OMIM:606408
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Abnormal heart morphology, Hypopigmentation of hair, Alopecia ORPHA:1067
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Highly arched eyebrow, Hydronephrosis, Increased mean platelet volume, Total anomalo... ORPHA:487796
Teebi Hypertelorism Syndrome 1
Highly arched eyebrow, Ventricular septal defect, Bicornuate uterus, Atrial septal defect, Shawl ... OMIM:145420
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus OMIM:601076
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Abnormality of the uterine cervix, Partial vaginal septum, Uterus didelphys ORPHA:3411
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Donnai-Barrow Syndrome
Ventricular septal defect, Abnormality of the uterus, Bicornuate uterus, Proteinuria, Widow's peak ORPHA:2143
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Leydig Cell Hypoplasia
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... ORPHA:755
Satoyoshi Syndrome
Abnormality of the ovary, Abnormal hair morphology, Hypoplasia of the ovary, Abnormality of the u... ORPHA:3130
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... OMIM:194072
Lathosterolosis
Horseshoe kidney, Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Acanthocyt... OMIM:607330
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Bernard-Soulier Syndrome
Macroscopic hematuria, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced plate... ORPHA:274
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:617565
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Cardiomegaly OMIM:613576
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Abnorma... OMIM:273250
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Anemia, Thrombocytopenia ORPHA:858
Vaginal Atresia
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... ORPHA:65681
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:613265
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Hirsutism, Ovarian fibroma, Gonadal cal... ORPHA:314478
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hirsutism, Coarse hair, Cardiomegaly, Splenomegaly, Heparan sulfate excretion in ur... OMIM:252920
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Hypopigmentation of the skin, Iris hy... ORPHA:177910
Hypomelia With Mullerian Duct Anomalies
Longitudinal vaginal septum, Uterus didelphys OMIM:146160
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Hypopigmentation of hair, Premature graying of hair, Generalized hy... ORPHA:33445
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Azoospermia, Hypogonadotropic hypogonadism, Hyperpigmentation o... OMIM:235200
Perrault Syndrome 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Waardenburg Syndrome, Type 2A
Partial albinism, Albinism, White eyelashes, Heterochromia iridis, White forelock, White eyebrow,... OMIM:193510
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Waardenburg Syndrome Type 2
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... ORPHA:895
Microphthalmia, Syndromic 9
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Truncus arteriosus, Ventricular septal defect... OMIM:601186
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Albinism, Oculocutaneous, Type Ii
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... OMIM:203200
Ermine Phenotype
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow OMIM:227010
Partial Androgen Insensitivity Syndrome
Hypospadias, Abnormality of secondary sexual hair, Aplasia of the uterus, Bifid scrotum, Fused la... ORPHA:90797
Meacham Syndrome
Dextrocardia, Horseshoe kidney, Bicuspid aortic valve, Ventricular septal defect, Cardiac total a... OMIM:608978
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Absent testis, Urogenital sinus anomaly, Abnormal vas d... ORPHA:325124
Prune Belly Syndrome
Ventricular septal defect, Abnormality of the ureter, Congenital posterior urethral valve, Decrea... ORPHA:2970
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Bicornuate uterus, Polycystic kidney dysplasia, Frontotemporal hypertr... OMIM:263210
Caudal Duplication
Ureteral duplication, Abnormal penis morphology, Uterus didelphys, Cryptorchidism ORPHA:1756
Cardiac-Urogenital Syndrome
Patent urachus, Dextrocardia, Aplasia of the uterus, Ventricular septal defect, Bifid scrotum, Dy... OMIM:618280
Satoyoshi Syndrome
Alopecia universalis, Alopecia, Hypoplasia of the uterus OMIM:600705
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:612310
46,Xx Sex Reversal 2
True hermaphroditism, Bifid scrotum, Sex reversal, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Griscelli Syndrome Type 2
Hepatomegaly, Partial albinism, Neutropenia, Splenomegaly, Iris hypopigmentation, Pancytopenia, H... ORPHA:79477
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... ORPHA:2885
Attrv30M Amyloidosis
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Nephropathy ORPHA:85447
Premature Ovarian Failure 18
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:619203
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:619665
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Aplasia of the uterus, Renal hypoplasia, Anteriorly displaced urethral meatus, ... OMIM:266810
Hand-Foot-Genital Syndrome
Hypospadias, Ventricular septal defect, Hypoplastic fifth toenail, Abnormality of the uterus, Bic... ORPHA:2438
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hydronephrosis, Aplasia of the uterus, Abnormal heart morphology, Uterus didelphys, Unilateral re... ORPHA:2237
Elejalde Disease
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:256710
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Oculocutaneous Albinism Type 3
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... ORPHA:79433
Ataxia-Telangiectasia
Polycystic ovaries, Abnormal testis morphology, Lymphopenia, Multiple cafe-au-lait spots, Hypopig... ORPHA:100
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... ORPHA:897
Beaulieu-Boycott-Innes Syndrome
High anterior hairline, Horseshoe kidney, Endometriosis, Ventricular septal defect OMIM:613680
Acquired Hypertrichosis Lanuginosa
Fine hair, Ovarian neoplasm, Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation... ORPHA:2221
Waardenburg Syndrome
Hypopigmented skin patches, Abnormal vagina morphology, Abnormality of skin pigmentation, Abnorma... ORPHA:3440
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis OMIM:617718
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Nephrotic syndrome, Nephrocalcinosis, Hematuria, Proximal renal tubular ac... OMIM:146255
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Labial hypoplasia, Pelvic kidney, Rectovaginal fistula, Clitoral hypertrop... OMIM:300707
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal reproductive system morphology, Abnormal heart morphology, Hypopigmentation of hair, Hyp... ORPHA:70472
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Lumbar Syndrome
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... ORPHA:83628
Meacham Syndrome
Horseshoe kidney, Abnormality of the spleen, Abnormal vagina morphology, Ventricular septal defec... ORPHA:3097
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Urinary excretion of sialylated oligosaccharides, Bone-marr... OMIM:256550
Normosmic Congenital Hypogonadotropic Hypogonadism
Azoospermia, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Male hypogonadis... ORPHA:432
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Long eyelashes, Synophrys OMIM:619064
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Azoospermia, Clitoral hypertrophy, Bicornuate ut... OMIM:400045
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hypospadias, Horseshoe kidney, Abnormal heart morphology, Perimembranous ventricular septal defec... ORPHA:363444
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Polycystic ovaries, Hypoplasia of the vagina, Sparse pubic hair, Ambiguous genitalia... ORPHA:90796
Mogs-Cdg
Hepatomegaly, Hirsutism, Alopecia, Long eyelashes, External genital hypoplasia, Cardiomegaly, Lef... ORPHA:79330
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, Heterochromia ... ORPHA:894
Townes-Brocks Syndrome 2
Hypospadias, Crossed fused renal ectopia, Bifid uterus, Rectovaginal fistula OMIM:617466
Perrault Syndrome 4
Bicornuate uterus, Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the ut... OMIM:615300
Chromosome 17Q12 Deletion Syndrome
Renal hypoplasia, Hydronephrosis, Highly arched eyebrow, Small nail, Hypertrichosis, Urethral ste... OMIM:614527
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Curly eyelashes, Long eyelashes, Cardiomegaly, Conge... OMIM:239850
Pseudo-Torch Syndrome 3
Leukocytosis, Anemia, Cardiomegaly, Acute kidney injury, Congenital thrombocytopenia, Proteinuria OMIM:618886
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... ORPHA:860
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Blue irides, Cryptorchidism, Fair hair, Red hair OMIM:614613
Piebaldism
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... ORPHA:2884
Pseudotrisomy 13 Syndrome
Dextrocardia, Renal hypoplasia, Ventricular septal defect, Complete atrioventricular canal defect... OMIM:264480
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ventricular septal defect, Histiocytoid cardiomyopathy, Chordee, Clitoral hypertroph... OMIM:309801
Woodhouse-Sakati Syndrome
Fine hair, Hypogonadotropic hypogonadism, Alopecia, Hypoplasia of the fallopian tube, Micropenis,... OMIM:241080
Kennerknecht Syndrome
Agonadism, Long eyelashes, Hypoplasia of the uterus OMIM:600908
Chediak-Higashi Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Ocular albinism, Silver-gray hair, Abnormal dense granules... OMIM:214500
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Aminoaciduria, Ma... OMIM:603585
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Long penis, Hyperpigmentation of the skin, Ambiguous genitalia, fema... OMIM:202010
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Cardiomegaly, Pigmentary retinopathy, Myocardial fibrosis OMIM:253250
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Aplasia of the uterus, Hypoplasia of the vagina, Unilateral renal agenesis, Ect... ORPHA:3109
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Proteinuria, Bicornuate uterus OMIM:191830
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Horseshoe kidney, Asplenia, Pelvic kidney, Splenogonadal fusion, Type I t... OMIM:156810
Duplication Of Urethra
Hypospadias, Bifid scrotum, Chordee, Anuria, Dysuria, Uterus didelphys, Coronal hypospadias, Clit... ORPHA:237
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Anemia, Cardiomegal... ORPHA:85451
Naxos Disease
Dilated cardiomyopathy, Onycholysis, Nail dystrophy, Abnormal morphology of right ventricular tra... OMIM:601214
Squalene Synthase Deficiency
Hypospadias, Bicuspid aortic valve, Bilateral cryptorchidism, Abnormality of hair pigmentation OMIM:618156
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... ORPHA:79435
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Aplasia of the uterus, Tetralogy of Fallot, Abnormal cardiac septum morphology,... ORPHA:3320
Carney Complex, Type 1
Cardiac myxoma, Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair OMIM:160980
Timothy Syndrome
Cardiomegaly, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... OMIM:115197
Oculocutaneous Albinism
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... ORPHA:55
46,Xx Gonadal Dysgenesis
Abnormality of secondary sexual hair, Streak ovary, Aplasia/hypoplasia of the uterus, Sparse pubi... ORPHA:243
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly OMIM:212140
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Hydronephrosis, Ventricular septal defect, Hypertrichosis, Splenomegaly, Abnormalit... ORPHA:1655
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Chordee, Pyelonephritis, Uterus didelphy... OMIM:140000
Mosaic Trisomy 9
Dextrocardia, Horseshoe kidney, Hydronephrosis, Small nail, Ventricular septal defect, Asplenia, ... ORPHA:99776
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Hematuria, Cardiomegaly, Splenomegaly, Increased red cell sickling te... OMIM:603903
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Horseshoe kidney, Labial hypoplasia, Mitral atresia, Clitoral hypertrophy, Bicornuate uterus, Abn... ORPHA:140952
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Oeis Complex
Hydronephrosis, Bifid uterus, Vesicovaginal fistula, Pelvic kidney, Labial hypoplasia, Rectovagin... OMIM:258040
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Hypertrichosis, Pericardial effusion, Low anter... ORPHA:363705
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Ambiguous genit... ORPHA:90793
Okamoto Syndrome
Hydronephrosis, Ventricular septal defect, Hypertrichosis, Extension of hair growth on temples to... ORPHA:2729
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Donnai-Barrow Syndrome
Bicornuate uterus, Ventricular septal defect, Low-molecular-weight proteinuria, Non-acidotic prox... OMIM:222448
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Myocardia... OMIM:300257
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morphology, ... ORPHA:324410
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Fryns Syndrome
Hypospadias, Hydronephrosis, Multicystic kidney dysplasia, Bicornuate uterus, Tetralogy of Fallot... ORPHA:2059
Lethal Acantholytic Erosive Disorder
Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyebrow, Absent eyelashes, Cardi... ORPHA:158687
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Estrogen Resistance Syndrome
Breast hypoplasia, Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Exstrophy-Epispadias Complex
Horseshoe kidney, Renal hypoplasia, Abnormality of the ureter, Bifid scrotum, Bifid uterus, Absen... ORPHA:322
Fanconi Anemia
Hypospadias, Pyridoxine-responsive sideroblastic anemia, Hypertrophic cardiomyopathy, Abnormal ao... ORPHA:84
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... ORPHA:79432
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Generalized bronze hyperpigmentation, Hypogonadotropic hypogona... ORPHA:465508
Hypertrichotic Osteochondrodysplasia, Cantu Type
Hypertrophic cardiomyopathy, Low anterior hairline, Curly eyelashes, Long eyelashes, Cardiomegaly... ORPHA:1517
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Alopecia of scalp, Mitral valve prolapse, Azoospermia, H... OMIM:602782
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Asplenia, Mitral atresia, Double outle... OMIM:306955
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Generalized bronze hyperpigmentation, Abnormality of the Leydig cells, Sex... ORPHA:168558
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Glomerulonephritis ORPHA:99931
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly... OMIM:616897
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment... ORPHA:352731
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytos... OMIM:618278
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Atretic vas deferens, Renal cyst, Nephrolithiasis, Glycosuria, Sta... OMIM:137920
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Generalized bronze hyperpigmentation, Abnormality of the Leydig cells, Sex... ORPHA:289548
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Pyramidal skinfold extending from the base to the top of the nails, Bif... OMIM:119500
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Abnormal spleen morphology, Abnormality of the uterus, Vesico... ORPHA:2470
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology, Abnormal fingernail morphology, Sparse eye... ORPHA:1521
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:411515
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Refsum Disease, Classic
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy OMIM:266500
Alg9-Cdg
Hepatomegaly, Hydronephrosis, Ventricular septal defect, Hypoplastic nipples, Hypertrichosis, Per... ORPHA:79328
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Blepharophimosis, Ptosis, And Epicanthus Inversus
Highly arched eyebrow, Hypoplasia of the uterus, Sparse pubic hair, Premature ovarian insufficiency OMIM:110100
Ulnar-Mammary Syndrome
Renal hypoplasia, Ventricular septal defect, Hypoplastic nipples, Abnormality of the uterus, Hypo... ORPHA:3138
Pagod Syndrome
Abnormality of the spleen, Abnormal morphology of female internal genitalia, Situs inversus total... ORPHA:991
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Cardiomegaly, Hepatomegaly OMIM:255120
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Waardenburg Syndrome, Type 4C
Blue irides, Hypopigmented skin patches, White eyelashes, White forelock, Heterochromia iridis, H... OMIM:613266
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Schinzel-Giedion Midface Retraction Syndrome
Hypospadias, Hypoplastic labia minora, Hydronephrosis, Hypoplastic labia majora, Hypoplastic nipp... OMIM:269150
Bartsocas-Papas Syndrome 1
Hypoplastic labia majora, Small nail, Alopecia, Absent eyebrow, Absent eyelashes, Sparse scalp ha... OMIM:263650
Renal Agenesis
Ventricular septal defect, Aplasia/hypoplasia of the uterus, Absent vas deferens, Ureteral agenes... ORPHA:411709
Woodhouse-Sakati Syndrome
Streak ovary, Alopecia, Hypoplasia of the fallopian tube, Hypogonadism, Micropenis, Abnormal sper... ORPHA:3464
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Cardiomegaly, Dicarboxylic aciduria ORPHA:42
Vici Syndrome
Dilated cardiomyopathy, Ocular albinism, Cardiomyopathy, Albinism, Hypopigmentation of the skin, ... OMIM:242840
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Hoyeraal-Hreidarsson Syndrome
Generalized hyperpigmentation, Nail dystrophy, Anemia, Abnormal leukocyte morphology, Generalized... ORPHA:3322
Koolen-De Vries Syndrome
Hypospadias, Bicuspid aortic valve, Ureteral duplication, Hydronephrosis, Abnormality of hair tex... ORPHA:96169
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Freckling, Albinism, Hypopigmentation of the skin, Melanocyt... ORPHA:79434
Opitz Gbbb Syndrome
Hypospadias, Hydronephrosis, Ventricular septal defect, Bifid scrotum, Enlarged ovaries, Abnormal... ORPHA:2745
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Cardiomyopathy OMIM:105210
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Ureteral duplication, Hydronephrosis, Cardiomegaly, Polycys... OMIM:608836
Sim1-Related Prader-Willi-Like Syndrome
Hypoplastic labia minora, Hypogonadotropic hypogonadism, External genital hypoplasia, Small scrot... ORPHA:398079
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Alopecia of scalp, Aplasia/hypoplasia of the uterus, Streak ovary, Alopecia, Abnormal eyebrow mor... ORPHA:2232
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Exercise-induced myoglobinuria, Dicarbox... OMIM:201475
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal concentration of acylcarnitine in the urine ORPHA:391428
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... OMIM:601375
Chédiak-Higashi Syndrome
Large clumps of pigment irregularly distributed along hair shaft, Abnormal natural killer cell mo... ORPHA:167
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Oligosacchariduria, Thick eyebrow OMIM:230000
Magel2-Related Prader-Willi-Like Syndrome
Hypoplastic labia minora, Small scrotum, External genital hypoplasia, Hypopigmentation of the ski... ORPHA:398069
Fryns Syndrome
Hypospadias, Ureteral duplication, Hydronephrosis, Small nail, Facial hirsutism, Bifid scrotum, V... OMIM:229850
Ermine Phenotype
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... ORPHA:999
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Uterus didelphys, Micropenis, Septate vagina, Tetralogy o... OMIM:617925
Townes-Brocks Syndrome 1
Hypospadias, Renal hypoplasia, Urethral valve, Ventricular septal defect, Bifid scrotum, Bifid ut... OMIM:107480
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... ORPHA:439
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephrocalcinosis, Gonadoblastoma, Car... OMIM:130650
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly, Abnormality of the nail ORPHA:349
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Horseshoe kidney, Aplasia of the uterus, Ventricular septal defect, Anemia, Hepatos... OMIM:274000
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Absent vas deferens, Papillary cystadenoma... ORPHA:93111
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hepatomegaly, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urin... ORPHA:228308
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Precocious puberty in females, Hirsutism, Elevated urinary epinephrine, Lo... ORPHA:90794
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Bicuspid aortic valve, Hydronephrosis, Ventricular septal defect, Parachute mitral v... OMIM:265380
Oculocutaneous Albinism Type 1A
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... ORPHA:79431
Limb-Mammary Syndrome
Aplasia of the uterus, Hypoplastic nipples, Freckling, Alopecia, Sparse eyebrow, Aplasia of the o... ORPHA:69085
Brittle Cornea Syndrome 1
Mitral valve prolapse, Red hair OMIM:229200
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Hermansky-Pudlak Syndrome
Abnormality of thrombocytes, Neutropenia, Partial albinism, Ocular albinism, Long eyelashes, Card... ORPHA:79430
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta OMIM:617022
Albinism, Oculocutaneous, Type Ia
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of... OMIM:203100
Acrorenal-Mandibular Syndrome
Abnormality of the ureter, Unicornuate uterus, Uterus didelphys, Bicornuate uterus, Polycystic ki... OMIM:200980
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Bicornuate uterus, Sparse lower eyelashes, Tetralogy of Fallot, Unilat... OMIM:154400
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Labial hypertrophy, Hypoplastic fingernail... ORPHA:96191
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:608013
Smith-Lemli-Opitz Syndrome
Hypospadias, Renal hypoplasia, Hydronephrosis, Ventricular septal defect, Bifid scrotum, Renal cy... OMIM:270400
Currarino Syndrome
Horseshoe kidney, Rectovaginal fistula, Bicornuate uterus, Urinary incontinence, Septate vagina, ... OMIM:176450
Muenke Syndrome
Hypopigmented skin patches, Hypopigmentation of hair, Hypermelanotic macule ORPHA:53271
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
Prader-Willi Syndrome
Hypoplastic labia minora, Hypogonadotropic hypogonadism, External genital hypoplasia, Hypopigment... OMIM:176270
Hydrolethalus Syndrome 1
Hypospadias, Complete atrioventricular canal defect, Hydronephrosis, Abnormal vagina morphology, ... OMIM:236680
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Hepatomegaly, Abnormal eyebrow morphology, Splenomegaly, Heterochromi... ORPHA:163746
Microsporidiosis
Abnormality of the endometrium, Abnormality of the spleen, Myocarditis, Prostatitis, Endocarditis... ORPHA:2552
Degcags Syndrome
Hypospadias, Hepatosplenomegaly, Chronic kidney disease, Pancytopenia, Low posterior hairline, Ab... OMIM:619488
Mucopolysaccharidosis Type 3
Hepatomegaly, Mucopolysacchariduria, Hirsutism, Abnormal mitral valve morphology, Abnormal aortic... ORPHA:581
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Hydronephrosis, Aplasia of the uterus, Urethral atresia, Absent external genitalia, Cryptorchidis... ORPHA:94095
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Alopecia of scalp, Mitral valve prolapse, Cervical insufficiency, Anemia, Uterin... OMIM:130050
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Aplasia of the uterus, Urethral atresia, Absent external genitalia, Aplasia of th... OMIM:271520
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypoplastic labia minora, Hypogonadotropic hypogonadism, External genital hypoplasia, Small scrot... ORPHA:98754
Genitourinary And/Or Brain Malformation Syndrome
Hypospadias, Streak ovary, Chordee, Uterus didelphys, Urogenital sinus anomaly, Clitoral hypertro... OMIM:618820
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... ORPHA:1329
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypoplastic labia minora, Hypogonadotropic hypogonadism, External genital hypoplasia, Small scrot... ORPHA:98793
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Freckling, Hyperpigmentation of the skin, Iris hypopigmentation, Mult... ORPHA:3214
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypoplastic labia minora, Hypogonadotropic hypogonadism, External genital hypoplasia, Small scrot... ORPHA:177904
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ocular albinism, Anemia, Ureteral stenosis, Iris hypopigmentation, Cryptorchidism, Hypopigmentati... ORPHA:2719
Fraser Syndrome 1
Hypospadias, Renal hypoplasia, Extension of hair growth on temples to lateral eyebrow, Abnormal h... OMIM:219000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypoplastic labia minora, Hypogonadotropic hypogonadism, External genital hypoplasia, Small scrot... ORPHA:177901
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Developmental And Epileptic Encephalopathy 95
Highly arched eyebrow, Cryptorchidism, Cardiomegaly, Hepatomegaly OMIM:618143
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy OMIM:261740
Prader-Willi Syndrome
Hypoplastic labia minora, Hypoplastic labia majora, Small scrotum, External genital hypoplasia, H... ORPHA:739
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Low posterior hairline, Hirsutism, Synophrys ORPHA:2463
Sandhoff Disease
Urinary incontinence, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Fraser Syndrome
Hypospadias, Renal hypoplasia, Abnormal vagina morphology, Urethral atresia, Small scrotum, Abnor... ORPHA:2052
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Rubinstein-Taybi Syndrome 1
Hypospadias, Highly arched eyebrow, Ventricular septal defect, Hirsutism, Bifid uterus, Low anter... OMIM:180849
Hypohidrotic Ectodermal Dysplasia
Nephrotic syndrome, Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexis nodosa, I... ORPHA:238468
Coffin-Siris Syndrome 1
Hypospadias, Renal hypoplasia, Hydronephrosis, Aplasia of the uterus, Hypertrichosis, Dry hair, V... OMIM:135900
7Q11.23 Microduplication Syndrome
Hypospadias, Hydronephrosis, Aplasia/Hypoplasia of the fallopian tube, Ventricular septal defect,... ORPHA:96121
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
3-Methylglutaconic aciduria, Cardiomegaly, Cardiomyopathy OMIM:619259
Craniofaciofrontodigital Syndrome
Abnormal heart morphology, Cardiomegaly OMIM:114620
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Abnormal hair whorl, Aplasia of the vagina, Unilateral renal agenesis ORPHA:457284
Prader-Willi-Like Syndrome
Hypoplastic labia minora, Hypogonadotropic hypogonadism, External genital hypoplasia, Small scrot... ORPHA:398073
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Hydronephrosis, Ventricular septal defect, Cardiomegaly OMIM:614921
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:98795
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hirsutism, Mitral atresia, Subvalvular aortic stenosis, Hepatosplenomegaly, Micropenis, Unilatera... OMIM:619503
Neu-Laxova Syndrome 1
Ventricular septal defect, Bifid uterus, Absent eyelashes, Transposition of the great arteries, C... OMIM:256520
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... OMIM:245600
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hyp... ORPHA:308552
Meckel Syndrome, Type 1
Abnormality of the ureter, Asplenia, External genital hypoplasia, Ambiguous genitalia, female, Sp... OMIM:249000
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Hepatomegaly, Mucopolysacchariduria, Cardiomegaly, Splenomegaly, Spa... OMIM:252500
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Hypertrichosis, Sparse axillary hair, Hyperpigmentation of the skin, Epididymitis, ... OMIM:256040
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:411511
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Ureteral duplication, Gonadoblastoma, Polycythemia, Co... ORPHA:116
Roberts-Sc Phocomelia Syndrome
Hypospadias, Horseshoe kidney, Enlarged labia minora, Ventricular septal defect, Long penis, Clit... OMIM:268300
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Pollakisuria, Cardiomegaly ORPHA:268
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Highly arched eyebrow, Streak ovary, Polycystic ovaries, Thick eyebrow, Premature ovarian insuffi... ORPHA:572333
Cystinosis, Nephropathic
Renal Fanconi syndrome, Hepatomegaly, Generalized aminoaciduria, Hypopigmentation of hair, Retina... OMIM:219800
Phocomelia, Schinzel Type
Nail dysplasia, Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Townes-Brocks Syndrome
Hypospadias, Renal hypoplasia, Urethral valve, Abnormal vagina morphology, Bifid scrotum, Rectova... ORPHA:857
Brittle Cornea Syndrome
Abnormality of hair pigmentation, Mitral valve prolapse, Pulmonic stenosis ORPHA:90354
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Polycystic ovaries, Cardiomegaly, Renal cyst ORPHA:137675
22Q11.2 Deletion Syndrome
Hypospadias, Renal hypoplasia, Hypopigmented skin patches, Abnormality of thrombocytes, Tricuspid... ORPHA:567
Prader-Willi Syndrome Due To Translocation
Stellate iris, Abnormal heart morphology, Hyperpigmentation of the skin, Hypogonadotropic hypogon... ORPHA:177907
Pontocerebellar Hypoplasia Type 7
Aplasia of the uterus, Absent penis, Clitoral hypertrophy, Abnormal scrotal rugation, Micropenis,... ORPHA:284339
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Mitral valve prolapse, Renovascular hypertension, Abnormality of sk... ORPHA:286
Yunis-Varon Syndrome
Hypospadias, Hypoplastic labia majora, Ventricular septal defect, Sparse eyelashes, Renovascular ... ORPHA:3472
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Truncus Arteriosus
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... ORPHA:3384
Abetalipoproteinemia
Hepatomegaly, Abnormality of retinal pigmentation, Acanthocytosis, Cardiomegaly, Anemia, Reticulo... ORPHA:14
Peters-Plus Syndrome
Hypospadias, Renal hypoplasia, Ureteral duplication, Hydronephrosis, Hypoplastic labia majora, Ve... OMIM:261540
Rhombencephalosynapsis
Abnormality of the uterus ORPHA:59315
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:98794
Bohring-Opitz Syndrome
Hypertrichosis, Urinary retention, Cardiomegaly, Abnormal cardiac septum morphology, Synophrys ORPHA:97297
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... OMIM:300967
Peters Plus Syndrome
Hypospadias, Ureteral duplication, Hydronephrosis, Bicuspid pulmonary valve, Pulmonic stenosis, M... ORPHA:709
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Hydronephrosis, Ventricular septal defect, Abnormal heart morphology, Anem... ORPHA:438213
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal heart morphology, Cardiomegaly, Atrial septal defect, Tetralogy of F... ORPHA:980
Greenberg Dysplasia
Hepatomegaly, Absent toenail, Cardiomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis, Hyp... OMIM:215140
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Coarse hair, Widow's peak, Shawl scrotum ORPHA:1974
Smith-Lemli-Opitz Syndrome
Hypospadias, Hydronephrosis, Ventricular septal defect, Atrioventricular canal defect, Hypopigmen... ORPHA:818
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Chronic lymphatic leukemia, Cardiomegaly, Hepatosplenomegaly, Microp... ORPHA:51
Cowden Syndrome
Hypopigmented skin patches, Abnormal penis morphology, Endometrial carcinoma, Melanocytic nevus, ... ORPHA:201
Cornelia De Lange Syndrome
Hypospadias, Highly arched eyebrow, Hypoplastic labia majora, Ventricular septal defect, Hypoplas... ORPHA:199
Williams Syndrome
Bicuspid aortic valve, Overriding aorta, Hypoplastic toenails, Abnormal fingernail morphology, Hy... ORPHA:904
Congenital Tracheomalacia
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Atrial sept... ORPHA:95430
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Right atrial... ORPHA:1677
Wolf-Hirschhorn Syndrome
Hypospadias, Highly arched eyebrow, Aplasia of the uterus, Ventricular septal defect, Accessory s... OMIM:194190
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Hydronephrosis, Bicornuate uterus, Nail dysplasia, Vesicoureteral reflux, Crypt... ORPHA:2363
Acrodysostosis With Multiple Hormone Resistance
Hypospadias, Blue irides, Hypogonadism, Cryptorchidism, Fair hair, Red hair ORPHA:280651
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Hydronephrosis, Urethrovaginal fistula, Renal cyst, Uterus didelphys, Ambiguous... ORPHA:93271
Congenital Total Pulmonary Venous Return Anomaly
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... ORPHA:99125
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hyp... ORPHA:365
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Coronary a... ORPHA:75565
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Menkes Disease
Hypopigmentation of hair, Sparse hair, Bladder diverticulum, Woolly hair ORPHA:565
Pallister-Killian Syndrome
Hypospadias, Aplasia of the uterus, Sparse eyelashes, Sparse and thin eyebrow, Aortic valve steno... OMIM:601803
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Coffin-Lowry Syndrome
Highly arched eyebrow, Abnormal hair morphology, Coarse hair, Uterine prolapse, Hyperconvex finge... OMIM:303600
Pallister-Hall Syndrome
Hypospadias, Ventricular septal defect, Aplasia/hypoplasia of the uterus, Atrioventricular canal ... ORPHA:672
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anonychia, Aplasia of the uterus, Hypoplastic nipples, Cryptorchidism, Anteriorly di... OMIM:276820
Singleton-Merten Syndrome 1
Onycholysis, Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Aortic valve ... OMIM:182250
Norrie Disease
Uterine rupture, Cryptorchidism ORPHA:649
Classical Ehlers-Danlos Syndrome
Mitral valve prolapse, Cervical insufficiency, Tricuspid valve prolapse, Uterine prolapse, Bladde... ORPHA:287
Aneurysm-Osteoarthritis Syndrome
Left ventricular hypertrophy, Uterine prolapse, Abnormal heart morphology, Pulmonic stenosis ORPHA:284984
Loeys-Dietz Syndrome 3
Bicuspid aortic valve, Mitral valve prolapse, Ventricular hypertrophy, Pulmonic stenosis, Left ve... OMIM:613795
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Myocardial calcification, Pericardial effusion, Nephrocalcinosis, Ventricular ... ORPHA:51608

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 Cxcl17

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 Cxcl17.

No publications found that use IMPC mice or data for Cxcl17.

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MGI Allele Allele Type Produced
Cxcl17tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cxcl17tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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