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Gene: Efemp1 MGI:1339998

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Gene Summary

Name:
epidermal growth factor-containing fibulin-like extracellular matrix protein 1
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
abnormal cecum morphology Efemp1tm1.1(KOMP)Vlcg HOM Early adult 0.00
preweaning lethality, incomplete penetrance Efemp1tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 50% (1 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 100% (2 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 100% (2 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 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 100% (2 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 100% (2 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 50% (1 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 100% (2 of 2)
Olfactory lobe N/A heterozygote 50% (1 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 50% (1 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 50% (1 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 50% (1 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 50% (1 of 2)
Trigeminal V nerve N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

89 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

4 Images

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X-ray

XRay Images Hind Leg and Hip

4 Images

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X-ray

XRay Images Forepaw

4 Images

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Human diseases caused by Efemp1 mutations

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

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

The table below shows human diseases associated to Efemp1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Juvenile Glaucoma
Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art... ORPHA:98977

The table below shows human diseases predicted to be associated to Efemp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Cataract 50 With Or Without Glaucoma
Persistent pupillary membrane, Retinal detachment OMIM:620253
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Gastroschisis
Abdominal wall defect, Gastroschisis OMIM:230750
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Vitelliform-like macular lesions, Retinal nonattachment, Choroideremia ORPHA:99000
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma... ORPHA:190
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment OMIM:613310
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Congenital Glaucoma
Retinal detachment ORPHA:98976
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Stickler Syndrome, Type I, Nonsyndromic Ocular
Rhegmatogenous retinal detachment, Optically empty vitreous OMIM:609508
2q33.1 deletion syndrome
High palate, Inguinal hernia, Cleft palate DECIPHER:51
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Neovascular Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Rubeosis iridis, Uveal ectropion, Retino... ORPHA:94058
Choroideremia
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... OMIM:303100
Hernia, Double Inguinal
Inguinal hernia OMIM:142350
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... OMIM:616188
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Macular Dystrophy, Retinal, 2
Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal... OMIM:608051
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... ORPHA:97341
Gastroschisis
Volvulus, Intestinal malrotation, Intestinal atresia, Intestinal perforation, Gastroschisis ORPHA:2368
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... ORPHA:75377
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of skin pigmen... OMIM:251270
Mucopolysaccharidosis, Type Iiia
Coarse hair, Dense calvaria, Umbilical hernia, Heparan sulfate excretion in urine, Joint stiffnes... OMIM:252900
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Retinopathy ORPHA:90654
Polydactyly-Myopia Syndrome
Femoral hernia, Inguinal hernia ORPHA:2917
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy OMIM:613758
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Retinal detachment, Ectopia pupillae OMIM:225200
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Cataract 21, Multiple Types
Macular hypoplasia, Retinal detachment, Iris coloboma OMIM:610202
Mucopolysaccharidosis, Type Iiic
Coarse hair, Dense calvaria, Hypertrichosis, Heparan sulfate excretion in urine, Joint stiffness,... OMIM:252930
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia OMIM:261550
Retinopathy Of Prematurity
Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachment, Vitreo... ORPHA:90050
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia, Inguinal hernia OMIM:235760
Cone-Rod Dystrophy, X-Linked, 3
Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Retinal detachment, Optic disc pall... OMIM:300476
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ... OMIM:618697
Retinitis Pigmentosa 54
Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina... OMIM:613428
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Cone-Rod Dystrophy 5
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:600977
Weaver Syndrome
Broad thumb, Finger syndactyly, Fine hair, Camptodactyly of finger, Abnormal fingernail morpholog... ORPHA:3447
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Rhiny
Inguinal hernia OMIM:180360
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Trisomy 20P
Finger syndactyly, Abnormality of the ureter, Cryptorchidism, Low posterior hairline, Hernia, Sho... ORPHA:261318
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... ORPHA:424019
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Iris coloboma, Chorioretinal coloboma ORPHA:1473
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613801
Intellectual Disability, Wolff Type
Short distal phalanx of finger, Broad thumb, Limitation of joint mobility, Camptodactyly of finge... ORPHA:3080
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Pancreatic adeno... ORPHA:2869
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy OMIM:614284
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Coarse hair, Redundant skin, Inguinal hernia, Excessive wrinkled skin... OMIM:219200
Scarf Syndrome
Abnormal form of the vertebral bodies, Bifid scrotum, Umbilical hernia, Diastasis recti, Cryptorc... ORPHA:3134
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Eales Disease
Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularization, Vitritis... ORPHA:40923
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy ORPHA:75373
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Cholestasis, Humerus varus, Esophagitis, Genu valgum, Abnorma... ORPHA:198
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Retinitis Pigmentosa 68
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615725
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valgum, Urinary glycosamin... OMIM:253220
Idiopathic Uveal Effusion Syndrome
Retinal fold, Subretinal fluid, Exudative retinal detachment ORPHA:209956
Familial Articular Hypermobility Syndrome
Inguinal hernia ORPHA:2295
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Sparse eyebrow, Atypical scarring of skin, Skeletal muscle atrophy, Atrophic scars, C... ORPHA:75496
Retinitis Pigmentosa 7
Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys... OMIM:608133
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Mucopolysaccharidosis, Type Iiib
Coarse hair, Dense calvaria, Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, H... OMIM:252920
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Retinitis Pigmentosa 4
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme... OMIM:613731
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
X-Linked Ehlers-Danlos Syndrome
Hernia, Gastroesophageal reflux, Inguinal hernia, Umbilical hernia ORPHA:75497
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis, Omphalocele, Gastroschisis ORPHA:1198
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Inguinal hernia ORPHA:1568
Cutis Laxa, Autosomal Recessive, Type Iie
Highly arched eyebrow, Long eyelashes, Lumbar hyperlordosis, Inguinal hernia, Joint hypermobility... OMIM:619451
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Coarse hair, Hip dislocation, Hypoplastic cervical vertebrae, Epiphyseal stipplin... ORPHA:35173
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... ORPHA:85128
Retinitis Pigmentosa 90
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:619007
Hajdu-Cheney Syndrome
Dry skin, Decreased skull ossification, Generalized hirsutism, Hernia, Bowing of the long bones, ... ORPHA:955
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Retinitis Pigmentosa 84
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:618220
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... OMIM:613750
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment ORPHA:436182
Ehlers-Danlos Syndrome, Periodontal Type, 2
Atypical scarring of skin, Umbilical hernia, Inguinal hernia, Colon cancer OMIM:617174
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Retinal detachment, Macular atrophy, Iris coloboma, Retinal dystrophy OMIM:212550
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Retinal pigment epithelial mottling OMIM:300814
Macrocephaly/Autism Syndrome
Coarse hair, Lymphopenia, Penile freckling, Splenomegaly, Joint hypermobility, Cutis laxa, Hepato... OMIM:605309
Joint Laxity, Short Stature, And Myopia
Retinal detachment, Iris coloboma, Chorioretinal coloboma OMIM:617662
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Uveal Melanoma
Mydriasis, Iris melanoma, Abnormal fundus morphology, Ciliary body melanoma, Vitreous hemorrhage,... ORPHA:39044
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... OMIM:616468
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, C... OMIM:235510
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Short neck, Ovoid thoracolumbar vertebrae, Hepatomegaly, Dysphagia, Inguina... OMIM:252940
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody... ORPHA:3361
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior synechiae of the anterior chamber, Retinal pigment epithelial mottling, Abnormal macula... ORPHA:364055
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Cone-Rod Dystrophy 24
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:620342
Ehlers-Danlos Syndrome, Classic-Like, 2
Cellulitis, Cryptorchidism, Low posterior hairline, Ventral hernia, Short neck, High palate, Hip ... OMIM:618000
Mucopolysaccharidosis-Plus Syndrome
Low posterior hairline, Short neck, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular... OMIM:617303
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology, Hernia ORPHA:101009
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Coarse hair, Decreased muscle mass, Redundant skin, Inguinal hernia, ... ORPHA:357074
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Alopecia, Coarse hair, Small nail, Cutaneous finger syndactyly, Hyp... OMIM:613573
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Schimke Immunoosseous Dysplasia
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Short neck, Neutropenia, Nephrotic syndrome... OMIM:242900
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Camptodactyly of finger, Joint contracture of the 5th finger, Arachnodactyly, Brittl... ORPHA:1883
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Coffin-Siris Syndrome 8
Hypertrichosis, Long eyelashes, Thick eyebrow, Cryptorchidism, Inguinal hernia, Scoliosis, Sparse... OMIM:618362
Lateral Meningocele Syndrome
Coarse hair, Keloids, Decreased muscle mass, Umbilical hernia, Sclerosis of skull base, Cryptorch... OMIM:130720
Dubowitz Syndrome
Small hand, Toe syndactyly, Broad thumb, Abnormal female external genitalia morphology, Dry skin,... ORPHA:235
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Inguinal hernia OMIM:300209
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Hip contracture, Generalized hirsutism, Bowing of the long bones, ... OMIM:255800
Familial Adenomatous Polyposis 2
Colon cancer, Adenomatous colonic polyposis OMIM:608456
Retinitis Pigmentosa 6
Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy OMIM:312612
Sialidosis Type 2
Nephropathy, Skeletal muscle atrophy, Umbilical hernia, Inguinal hernia, Splenomegaly, Hepatomega... ORPHA:87876
Macs Syndrome
Alopecia, Sparse eyebrow, Umbilical hernia, Redundant skin, Cryptorchidism, Hyperextensible skin,... OMIM:613075
Winchester Syndrome
Carpal osteolysis, Osteolysis involving tarsal bones, Hirsutism, Generalized osteoporosis, Broad ... OMIM:277950
Progeroid Syndrome, Petty Type
Short distal phalanx of finger, Umbilical hernia, Abnormal hair morphology, Thick eyebrow, Long e... ORPHA:2963
Rin2 Syndrome
Umbilical hernia, Redundant skin, Cryptorchidism, Hyperextensible skin, Hirsutism, Increased susc... ORPHA:217335
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Inguinal herni... OMIM:615542
Bietti Crystalline Dystrophy
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... ORPHA:41751
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Retinopathy OMIM:610951
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Osteoporosis, Pre... OMIM:618625
Ruijs-Aalfs Syndrome
Skeletal muscle atrophy, Clinodactyly, Premature graying of hair, Hypogonadism, Elbow flexion con... OMIM:616200
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Fine hair, Elbow flexion contracture, Inguinal hernia, Cryptorchidism, Excessive wrin... OMIM:614438
Solitary Rectal Ulcer Syndrome
Hematochezia, Rectal prolapse, Stercoral ulcer, Anal fissure ORPHA:209964
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Finger clinodactyly, Inguinal hernia, Cryptorchidism, Supernumerary ribs, Osteoporosis, Coxa valga ORPHA:2958
Acrofacial Dysostosis, Catania Type
Small hand, Coarse hair, Finger syndactyly, Cryptorchidism, Inguinal hernia, Spina bifida occulta... ORPHA:1786
Occipital Horn Syndrome
Genu valgum, High palate, Soft skin, Ureteral obstruction, Limited elbow extension, Limited knee ... OMIM:304150
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Prieto Syndrome
Radial deviation of finger, Clinodactyly, 11 pairs of ribs, Inguinal hernia, Cryptorchidism, Oste... OMIM:309610
Cutis Laxa, Autosomal Recessive, Type Iiia
Congenital hip dislocation, Distal amyotrophy, Umbilical hernia, Cryptorchidism, Inguinal hernia,... OMIM:219150
Monosomy 5P
Small hand, Finger syndactyly, Inguinal hernia, Joint hypermobility, Abnormality of bone mineral ... ORPHA:281
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Osteopenia, Morgagni diaphragmatic hernia, Gastroesophageal reflux, Multiple bl... OMIM:613177
Scarf Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Abnormal form of the vertebral bodies, Bif... OMIM:312830
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Mucolipidosis Type Iii
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnormal hip bone morphology, J... ORPHA:577
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Inguinal hernia, Umbilical hernia ORPHA:1373
Megalocornea
Iris transillumination defect, Iridodonesis, Retinal detachment OMIM:309300
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Cryptorchidism, Anal atre... OMIM:175700
Fetal Hydantoin Syndrome
Short distal phalanx of finger, Coarse hair, Bifid scrotum, Hypoplastic fingernail, Cryptorchidis... ORPHA:1912
Achromatopsia
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... ORPHA:49382
Hyperekplexia 4
Umbilical hernia, Inguinal hernia, Distal arthrogryposis, Camptodactyly, High palate, Flexion con... OMIM:618011
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Dorsocervical fat pad, Joint hypermobility, Low anterior hairline, Short neck, Primary amenorrhea... OMIM:616033
Hall-Riggs Syndrome
Platyspondyly, Coarse hair, Abnormal epiphysis morphology, Abnormal dental enamel morphology, Joi... ORPHA:2107
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Cryptorchidism, Fine hair, Inguinal hernia ORPHA:1174
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Abnormal hip bone morphology, Inguinal hernia, Generalized hirsutism, Abnormal hair pattern, Scol... ORPHA:2508
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Carpal synostosis, Dysplasia of the femoral head, Bowing of the long bones,... OMIM:615349
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Elevated circulating aspartate aminotransferase concentration, Joint hyperm... OMIM:614727
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Trichohepatoneurodevelopmental Syndrome
Overlapping toe, Fibular bowing, Curly hair, Hepatomegaly, Bilateral coxa valga, High palate, Sho... OMIM:618268
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Aminopterin Syndrome Sine Aminopterin
Highly arched eyebrow, Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia... OMIM:600325
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Spinal Muscular Atrophy, X-Linked 2
Scoliosis, Arthrogryposis multiplex congenita, Inguinal hernia, Cryptorchidism, Myopathy, Spinal ... OMIM:301830
Weaver Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe... OMIM:277590
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Rectal prolapse, Intussusception OMIM:112200
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Extensor Tendons Of Finger Anomalies
Limitation of joint mobility, Skeletal muscle atrophy, Camptodactyly of finger, Multiple lipomas,... ORPHA:3294
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Retinal detachment OMIM:219250
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Genu valgum, Urinary glycosaminoglycan excretion, Generalized hirsutis... ORPHA:581
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Cryptorchidism, Hepat... OMIM:615381
Flynn-Aird Syndrome
Alopecia, Joint stiffness, Increased bone density with cystic changes, Alopecia of scalp, Kyphosc... OMIM:136300
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair, Slender long bone, Hyperextensible skin, Joint hypermobility, Spina bifida occulta, ... ORPHA:1185
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Pallor, Albinism, Osteoporosis, Hypopigmentation of hair, Kyphosis ORPHA:2786
Antiphospholipid Syndrome, Familial
Central retinal artery occlusion, Retinal vasculitis, Retinal detachment, Iritis, Vitritis OMIM:107320
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Chops Syndrome
High, narrow palate, Gastroesophageal reflux, Coarse hair, Tracheomalacia, Horseshoe kidney, Long... OMIM:616368
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Abnorm... ORPHA:113
Rudiger Syndrome
Ureterovesical stenosis, Hypoplastic fingernail, Inguinal hernia, Ovarian cyst, Short digit, Micr... OMIM:268650
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short femoral neck, Inguinal hernia, Brachydactyly, Reduced bone mineral density, Kyphosis, Delay... OMIM:618392
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm, Retinal coloboma OMIM:615113
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Hypogonadotropic hypogonadism, Osteopenia OMIM:615269
Omphalocele
Omphalocele ORPHA:660
Zimmermann-Laband Syndrome 3
Facial hypertrichosis, Small nail, Clinodactyly, Long hallux, Absent toenail, Long thumb, High pa... OMIM:618658
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Hamar... ORPHA:251992
Blepharonasofacial Malformation Syndrome
Sparse lateral eyebrow, Finger syndactyly, Redundant skin, Cryptorchidism, Inguinal hernia, Joint... ORPHA:1252
N-Acetylaspartate Deficiency
Inguinal hernia OMIM:614063
Bcard Syndrome
Platyspondyly, Osteopenia, Coarse hair, Contracture of the proximal interphalangeal joint of the ... OMIM:612394
Warburg Micro Syndrome 1
Facial hypertrichosis, Hypertrichosis, Overlapping toe, External genital hypoplasia, Cryptorchidi... OMIM:600118
Lambert Syndrome
Inguinal hernia OMIM:245550
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Osteoporosis, Fema... ORPHA:397685
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Leber Congenital Amaurosis 8
Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti... OMIM:613835
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Ankle flexion contracture, Coarse hair OMIM:619985
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Coffin-Lowry Syndrome
Highly arched eyebrow, Bifid sternum, Coarse hair, Kyphosis, Hyperconvex fingernails, Thick eyebr... OMIM:303600
Bazex-Dupre-Christol Syndrome
Coarse hair, Trichorrhexis nodosa, Furrowed tongue, Joint hypermobility, Pili torti, Sparse hair,... OMIM:301845
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Platyspondyly, High anterior hairline, Gastroesophageal reflux, M... OMIM:618853
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo... ORPHA:536471
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:616108
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
C Syndrome
Clitoral hypertrophy, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Ulnar deviation o... OMIM:211750
Isolated Glycerol Kinase Deficiency
Cryptorchidism, Myopathy, Hyperlordosis, Osteoporosis, Scoliosis ORPHA:408
Dermatosparaxis Ehlers-Danlos Syndrome
Abnormality of subcutaneous fat tissue, Osteomalacia, Esophagitis, Excessive wrinkled skin, Herni... ORPHA:1901
Juvenile Polyposis Syndrome
Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Neoplasm of the ... OMIM:174900
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Werner Syndrome
Small hand, Premature graying of hair, White forelock, Decreased fertility, Aplasia/Hypoplasia of... ORPHA:902
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Facioscapulohumeral Muscular Dystrophy 1
Exudative retinal detachment, Retinal telangiectasia OMIM:158900
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Renal hypoplasia, Brittle hair, Nail dystrophy, Abnormality of the anterio... ORPHA:75389
Polyposis Syndrome, Hereditary Mixed, 2
Colon cancer, Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic pol... OMIM:610069
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Vitiligo, Retinal detachment, Poliosis ORPHA:3437
Androgen Insensitivity Syndrome
Sparse pubic hair, Elevated circulating luteinizing hormone level, Inguinal hernia, Sparse axilla... OMIM:300068
Cerebrofaciothoracic Dysplasia
Coarse hair, Thick eyebrow, Vertebral segmentation defect, Low posterior hairline, Hernia, Abnorm... ORPHA:1394
Newfoundland Rod-Cone Dystrophy
Bone spicule pigmentation of the retina, Retinal dystrophy OMIM:607476
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Toe syndactyly, Elbow flexion contracture, Inguinal hernia, Knee flexion contracture,... OMIM:616809
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Abnormality of retinal pigmentation ORPHA:1259
Autosomal Recessive Stickler Syndrome
Retinal detachment, Vitreoretinopathy ORPHA:250984
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ... OMIM:204100
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Premature graying of hair, Interosseus muscle atrophy, Inguinal hernia, Distal lower limb muscle ... OMIM:619903
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Hemochromatosis, Type 1
Alopecia, Elevated circulating hepatic transaminase concentration, Azoospermia, Splenomegaly, Hyp... OMIM:235200
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness, Joint contracture, High palate, Scoliosis, K... OMIM:611225
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Gastroschisis, Cleft palate ORPHA:2476
Noonan Syndrome
Osteopenia, Coarse hair, Juvenile myelomonocytic leukemia, Abnormality of the spleen, Delayed men... ORPHA:648
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Dry skin, Congenital pyloric atresia, Alopecia of scalp, Cryptorchidis... ORPHA:2617
Ogden Syndrome
High, narrow palate, Broad hallux, Fine hair, Inguinal hernia, Cryptorchidism, Cutis laxa, Tortic... ORPHA:276432
Peutz-Jeghers Syndrome
Intestinal bleeding, Uterine neoplasm, Gastrointestinal carcinoma, Bile duct polyp, Clubbing of f... OMIM:175200
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Generalized osteoporosis, Homocystinuria, Limitation of joint mobility, Inguinal hernia, Hepatic ... OMIM:236200
Glycosylphosphatidylinositol Biosynthesis Defect 11
Macroglossia, High palate, Inguinal hernia, Umbilical hernia OMIM:616025
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Craniofrontonasal Dysplasia
Finger syndactyly, Congenital diaphragmatic hernia, Low posterior hairline, High palate, Hypospad... ORPHA:1520
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Kyphosis, Abnormal diaphysis morphology, Camptodac... ORPHA:3409
Retinitis Pigmentosa 46
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612572
Norrie Disease
Optic atrophy, Hypoplasia of the iris, Leukocoria, Retinal detachment, Retinal fold, Retinal dysp... OMIM:310600
Alpha-Mannosidosis
Synostosis of joints, Craniofacial hyperostosis, Inguinal hernia, Splenomegaly, Bowing of the lon... ORPHA:61
Chondroectodermal Dysplasia With Night Blindness
Epiphyseal dysplasia, Osteopenia, Platyspondyly, Hyperconvex toenail, Fractures of the long bones... ORPHA:319195
Donnai-Barrow Syndrome
Retinal detachment, Iris coloboma, Retinal dystrophy ORPHA:2143
Incontinentia Pigmenti
Erythema, Supernumerary nipple, Sparse hair, Onychogryposis, Alopecia, Breast aplasia, Breast hyp... OMIM:308300
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Finger syndactyly, Dry skin, Brittle hair, Foot polydactyly, Tarsal... ORPHA:2750
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Congenital diaphragmatic hernia, Low posterior hairline, Radiou... OMIM:245600
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Finger syndactyly, Cryptorchidism, Abnormal metacarpal morphology, ... ORPHA:2658
Leprechaunism
Megarectum, Clitoral hypertrophy, Long penis, Facial hypertrichosis, Skeletal muscle atrophy, Nep... ORPHA:508
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Joint contracture of the hand, Congenital contracture, Umbilical hernia, I... ORPHA:352490
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... ORPHA:506353
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatic failure, Abnormality of the uterus, Hypertrichosis, Pancreati... ORPHA:1655
Multiple Sulfatase Deficiency
Coarse hair, Broad thumb, Joint stiffness, Thick eyebrow, Splenomegaly, Mucopolysacchariduria, He... ORPHA:585
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Arthrochalasia Ehlers-Danlos Syndrome
Abnormality of subcutaneous fat tissue, Avascular necrosis of the capital femoral epiphysis, Join... ORPHA:1899
Rafiq Syndrome
Highly arched eyebrow, Sparse eyebrow, Sparse lateral eyebrow, Clinodactyly of the 5th finger, Jo... OMIM:614202
Developmental And Epileptic Encephalopathy 73
Flexion contracture, Scoliosis, Inguinal hernia, Hip dysplasia OMIM:618379
Retinitis Pigmentosa 77
Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen... OMIM:617304
Normosmic Congenital Hypogonadotropic Hypogonadism
Sparse body hair, Non-obstructive azoospermia, Cryptorchidism, Increased female libido, Primary a... ORPHA:432
Aarskog-Scott Syndrome
High anterior hairline, Small hand, Finger syndactyly, Umbilical hernia, Camptodactyly of finger,... ORPHA:915
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Hepatomegaly... OMIM:253000
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Retinal detachment ORPHA:90653
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Retinal pigment epithelial mottling OMIM:619389
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Postaxial foot polydactyly, Small nail, Overlapping fingers, Cryptorchidism, Hepatomegaly, Hyposp... OMIM:301056
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Craniolenticulosutural Dysplasia
Bifid uvula, Osteopenia, Gastroesophageal reflux, Coarse hair, High iliac wing, Posterior wedging... OMIM:607812
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Lenz-Majewski Hyperostotic Dwarfism
Cutaneous finger syndactyly, Cryptorchidism, Humeroradial synostosis, Chordee, Diaphyseal undertu... OMIM:151050
Coffin-Siris Syndrome 3
Scoliosis, Hypertrichosis, Umbilical hernia, Long eyelashes, Thick eyebrow, Inguinal hernia, Hirs... OMIM:614608
Congenital Primary Aphakia
Optic disc coloboma, Aniridia, Retinal detachment, Anterior synechiae of the anterior chamber, Re... ORPHA:83461
Craniofaciofrontodigital Syndrome
Osteopenia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Hypertrichosis, Premature skin ... ORPHA:363705
Premature Ovarian Failure 2B
Osteoporosis, Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Microphthalmia/Coloboma 9
Retinal detachment, Iris coloboma, Macular coloboma OMIM:615145
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Cryptorchidism, Arachnodactyly, Ventral hernia, High palate, Long uvula, Hip dislocat... ORPHA:536532
48,Xxyy Syndrome
Gastroesophageal reflux, Abnormal dental enamel morphology, Decreased testicular size, Azoospermi... ORPHA:10
Osteogenesis Imperfecta, Type Xiii
Generalized hirsutism, Arachnodactyly, Dislocated radial head, Wide distal femoral metaphysis, Lo... OMIM:614856
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Scoliosis, Small epiphyses, Genu valgum, Inguinal hernia, ... OMIM:618363
Musculocontractural Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Decreased muscle mass, Abnormal mesentery morphology, Cryptorchidism, M... ORPHA:2953
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Inguinal hernia OMIM:619602
Retinitis Pigmentosa 83
Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema... OMIM:618173
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Coronal craniosynostosis, Cholelithiasis, Coarse hair, Severe B lymphocytopenia, Pancr... ORPHA:83617
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Restrictive Dermopathy 2
Gastroesophageal reflux, Rectal prolapse OMIM:619793
De Barsy Syndrome
Congenital hip dislocation, Osteopenia, Decreased muscle mass, Umbilical hernia, Cryptorchidism, ... ORPHA:2962
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Abnormality of the cervical spine, Finger joint contracture, Osteo... ORPHA:48431
Geroderma Osteodysplasticum
Platyspondyly, Osteopenia, Premature skin wrinkling, Abnormal hair morphology, Femoral bowing, In... OMIM:231070
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
Retinitis Pigmentosa 2
Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c... OMIM:312600
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Dyskeratosis Congenita
White hair, Premature graying of hair, Displacement of the urethral meatus, Cirrhosis, Hepatomega... ORPHA:1775
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch... ORPHA:79301
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Joint hypermobility, Pili torti, Aplasia/Hypoplasia of the eyebrow, A... ORPHA:2891
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Scoliosis, A... ORPHA:1988
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Coarse hair, Flared metaphysis, Ureteral st... OMIM:309350
Chromosome 6Q11-Q14 Deletion Syndrome
Umbilical hernia, Bilateral cryptorchidism, Inguinal hernia, Low anterior hairline, Joint hypermo... OMIM:613544
Lowry-Maclean Syndrome
High, narrow palate, Generalized hypertrichosis, Osteopenia, Abnormality of the abdominal organs,... ORPHA:2409
Rahman Syndrome
High anterior hairline, Redundant skin, Cryptorchidism, Kyphoscoliosis, Camptodactyly OMIM:617537
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Exudative re... ORPHA:2788
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Finger syndactyly, Abnormal form of the vertebral bodies, Abnormal morphology of femal... ORPHA:2311
Menkes Disease
Alopecia, Metaphyseal spurs, Joint hypermobility, Cutis laxa, Metaphyseal widening, Brittle hair,... OMIM:309400
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatic failure, Hypertrichosis, Pancreatic lymphangiectasis, Cryptor... OMIM:235255
Eec Syndrome
Toe syndactyly, Xerostomia, Finger syndactyly, Dry skin, Aplasia/Hypoplasia of the thumb, Hypospa... ORPHA:1896
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Gastroesophageal reflux, Coarse hair, Stage 5 chronic kidney ... OMIM:619603
Bladder Exstrophy
Umbilical hernia, Intestinal malrotation, Inguinal hernia, Abnormality of the anus, Omphalocele, ... ORPHA:93930
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Ehlers-Danlos Syndrome, Classic Type, 2
Congenital hip dislocation, Cigarette-paper scars, Soft, doughy skin, Atrophic scars, Hyperextens... OMIM:130010
Sialuria
Long hallux, Splenomegaly, Inguinal hernia, Hirsutism, Low posterior hairline, Generalized hirsut... OMIM:269921
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia OMIM:615181
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Costello Syndrome
Ulnar deviation of finger, Gastroesophageal reflux, Abnormal hair morphology, Abnormal fingernail... ORPHA:3071
Classical Ehlers-Danlos Syndrome
Dislocated radial head, Cervical insufficiency, Hip dislocation, Rectal prolapse, Osteopenia, Gas... ORPHA:287
Fontaine Progeroid Syndrome
Small scrotum, Small nail, Cryptorchidism, Protruding tongue, Reduced subcutaneous adipose tissue... OMIM:612289
Whistling Face Syndrome, Recessive Form
Ulnar deviation of finger, Microglossia, Shoulder flexion contracture, Elbow flexion contracture,... OMIM:277720
Coffin-Siris Syndrome 2
Short distal phalanx of finger, Small nail, Sandal gap, Long eyelashes, Thick eyebrow, Cryptorchi... OMIM:614607
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Genu valgum, Delayed ... OMIM:184250
Bohring-Opitz Syndrome
Supernumerary nipple, Overlapping toe, Bilateral cleft palate, Dislocated radial head, Syndactyly... OMIM:605039
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Overlapping toe, Absent toenail, Absent fifth metatarsal, High pal... OMIM:620662
Cantu Syndrome
Platyspondyly, Congenital hypertrophy of left ventricle, Erlenmeyer flask deformity of the femurs... OMIM:239850
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
X-Linked Intellectual Disability, Cabezas Type
Small hand, Toe syndactyly, Sandal gap, Camptodactyly of finger, Hypogonadism, Decreased testicul... ORPHA:85293
Williams Syndrome
Synostosis of joints, Genu valgum, Cryptorchidism, Myopathy, Polycystic ovaries, Radioulnar synos... ORPHA:904
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Hepatomegaly, Ovoid vert... OMIM:253010
17P13.3 Microduplication Syndrome
Congenital hip dislocation, Inguinal hernia, Short neck, High palate, Clinodactyly of the 5th fin... ORPHA:217385
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Decreased fertility, Primary amenorrhea, Increased circulati... ORPHA:2410
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Cervical spine hypermobility, Hypoplasia of the o... OMIM:305400
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Omphalocele, Cleft palate OMIM:258320
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Cholestasis, Hepatosplenomeg... OMIM:266920
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Hypermobile Ehlers-Danlos Syndrome
Limitation of joint mobility, Decreased fertility, Arachnodactyly, Tendon rupture, Hip dislocatio... ORPHA:285
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cryptorchidism, Prematu... ORPHA:79239
Hurler Syndrome
Hypoplasia of the odontoid process, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Hern... OMIM:607014
Anti-Glomerular Basement Membrane Disease
Retinal detachment ORPHA:375
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of... OMIM:145350
Gorlin-Chaudhry-Moss Syndrome
Short distal phalanx of finger, Coronal craniosynostosis, Coarse hair, Umbilical hernia, Low ante... ORPHA:2095
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Umbilical hernia, Thick eyebrow, Inguinal hernia, Clinodactyly of the 5th ... OMIM:615834
Cystic Fibrosis
Osteopenia, Elevated circulating hepatic transaminase concentration, Absent vas deferens, Gastroe... ORPHA:586
Hurler-Scheie Syndrome
Umbilical hernia, Camptodactyly of finger, Heparan sulfate excretion in urine, Contracture of the... OMIM:607015
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Kyphosis, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal l... OMIM:600175
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, Abnormal rib morpho... ORPHA:3082
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
3-Methylglutaconic Aciduria, Type Iv
Inguinal hernia OMIM:250951
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Isolated Hemihyperplasia
Inguinal hernia ORPHA:2128
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Elbow flexion contracture, Cryptorchidism, Knee flexion contractur... OMIM:214150
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Retinal detachment ORPHA:93296
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, Small hand, Xerostomia, Cryptorchidism, Primary amenorrhea, Short foot, Precocious... ORPHA:398079
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Redundant skin, Distichiasis, Abnormal hair patter... ORPHA:1807
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Inguinal hernia, Cleft palate ORPHA:1135
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Bifid uvula, Highly arched eyebrow, High anterior hairline, Coarse hair, Sparse lateral eyebrow, ... OMIM:617506
Cranioectodermal Dysplasia
Short distal phalanx of finger, Finger syndactyly, Abnormal diaphysis morphology, Abnormal finger... ORPHA:1515
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Osteopenia, Portal fibrosis, Elevated circulating hepatic transaminase concentr... ORPHA:369
Intellectual Developmental Disorder, Autosomal Dominant 34
Coarse hair, 2-3 toe syndactyly, Curly hair, Short foot, Synophrys OMIM:616351
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Ruvalcaba Syndrome
Small hand, Kyphosis, Limited elbow extension, Inguinal hernia, Cryptorchidism, Short phalanx of ... OMIM:180870
Perrault Syndrome 1
Gonadal dysgenesis, Primary amenorrhea, Increased circulating gonadotropin level, Osteoporosis, H... OMIM:233400
Perlman Syndrome
High, narrow palate, Abnormal pancreas morphology, Femoral hernia, Cryptorchidism, Inguinal herni... ORPHA:2849
Progeria-Short Stature-Pigmented Nevi Syndrome
Generalized osteoporosis, Bifid uvula, Alopecia, Elevated circulating hepatic transaminase concen... ORPHA:2959
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Coarse hair, Thick eyebrow, Synophrys ORPHA:1021
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Retinal detachment OMIM:604841
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... ORPHA:79434
Ruvalcaba Syndrome
Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Kyphosis, Abnormal vertebral epiph... ORPHA:3121
Hypotrichosis 4