banner
Genes Phenotypes Help, News, Blog

Gene: Cidea MGI:1270845

Log in to follow

Gene Summary

Name:
cell death-inducing DNA fragmentation factor, alpha subunit-like effector A
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 cornea morphology Cideatm1b(EUCOMM)Hmgu HOM Early adult 3.44×10-05
corneal opacity Cideatm1b(EUCOMM)Hmgu HOM Early adult 3.44×10-05
decreased body length Cideatm1b(EUCOMM)Hmgu HOM Early adult 1.60×10-08
increased circulating alkaline phosphatase level Cideatm1b(EUCOMM)Hmgu HOM Early adult 5.17×10-05
abnormal retina outer nuclear layer morphology Cideatm1b(EUCOMM)Hmgu HOM   Early adult 5.08×10-05
increased circulating serum albumin level Cideatm1b(EUCOMM)Hmgu HOM Early adult 9.43×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

View images

Human diseases caused by Cidea 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 Cidea by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... OMIM:217800
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Bjornstad Syndrome
Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular int... OMIM:262000
Pili Torti, Early-Onset
Dry hair, Brittle hair, Enamel hypoplasia, Coarse hair, Hair shafts flattened at irregular interv... OMIM:261900
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Anhidrosis, Isolated, With Normal Sweat Glands
Abnormal hair morphology, Heat intolerance OMIM:106190
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Erythema, Fine h... OMIM:257980
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Corneal arcus, Cataract OMIM:618463
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar hyperhidrosis... OMIM:167210
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Morquio Syndrome C
Corneal opacity OMIM:252300
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse... OMIM:129490
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma OMIM:148200
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Epicanthus, Dry hair, Brittle hair, Upslanted palpebral fissure, Nail dystrophy ORPHA:93947
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Inguinal hernia, Failure to thrive, Cryptorchidism, ... OMIM:601358
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Winchester Syndrome
Corneal opacity OMIM:277950
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Epicanthus, Dry hair, Low anterior hairline, Mongolian blue spot, Hypothyroidism OMIM:618569
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Oculodentodigital Dysplasia
Dry hair, Epicanthus, Slow-growing hair, Blepharophimosis, Fine hair, Joint contracture of the 5t... OMIM:164200
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad... ORPHA:71526
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... ORPHA:2889
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia OMIM:144300
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Anhidrosis, Dry hair, Failure to thrive, Small for gestation... OMIM:133540
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... ORPHA:2334
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Acrogeria
Lipoatrophy, Skin ulcer, Fine hair, Excessive wrinkled skin, Irregular hyperpigmentation ORPHA:2500
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Anhidrosis, Failure to thrive, Cr... OMIM:216400
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Telecanthus, Widow's peak, Upslanted palpebral fissure, Coars... ORPHA:1974
Mucolipidosis Type Ii
Hip contracture, Dry hair, Inguinal hernia, Epicanthus, White hair, Knee flexion contracture, Fin... ORPHA:576
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... OMIM:270200
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Hypohidrosis, Fine hair, Abno... ORPHA:248
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Epicanthus, Brittle hair, Lipoatrophy, Redundant skin, Abnor... ORPHA:2963
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma OMIM:252650
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Fever, Silver-gray hair, Melanin pigment aggregation ... OMIM:607624
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia OMIM:613752
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Absent eyelashes, Nail dystro... ORPHA:2890
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Abnormal retinal morphology, Corneal crystals OMIM:219750
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Argininosuccinic Aciduria
Failure to thrive, Dry hair, Brittle hair, Trichorrhexis nodosa OMIM:207900
Proliferating Trichilemmal Cyst
Sparse scalp hair, Skin ulcer ORPHA:492
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Classic Mycosis Fungoides
Alopecia, Abnormal eyelid morphology, Erythema, Hypopigmented skin patches, Skin ulcer, Irregular... ORPHA:2584
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Cryptorchidism, Inguinal hernia, Fine hair ORPHA:1174
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Orofaciodigital Syndrome I
Alopecia, Dry hair, Epicanthus, Telecanthus, Pancreatic cysts, Ovarian cyst, Sparse hair, Enamel ... OMIM:311200
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Anhidrosis, Dry hair, Diabetes mellitus, Abnormality of reti... ORPHA:191
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... OMIM:608612
Primary Membranoproliferative Glomerulonephritis
Drusen, Hypoalbuminemia ORPHA:54370
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Diarrhea 13
Hypoalbuminemia OMIM:620357
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Juvenile Hyaline Fibromatosis
Abnormal hair morphology, Progressive flexion contractures, Skin ulcer ORPHA:2028
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Hypothyroidism, Fine hair, Hypohidrosis, Melanocytic... ORPHA:1882
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration OMIM:613153
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia, Small for gestational age, Hyperhidrosis, Fine hair, Upslanted palpebral fissure, L... ORPHA:231137
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Sparse hair, Pili torti OMIM:607903
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Abnormal testis morphology, Sparse body hair, Apla... ORPHA:202
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Cockayne Syndrome Type 3
Dry hair, Flexion contracture, Premature graying of hair, Keratoconjunctivitis sicca, Enamel hypo... ORPHA:90324
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Bifid ... ORPHA:1433
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Hypoalbuminemia OMIM:618805
Trichodental Dysplasia
Brittle hair, Slow-growing hair, Odontodysplasia, Fine hair, Sparse hair OMIM:601453
Flynn-Aird Syndrome
Alopecia, Cachexia, Primary adrenal insufficiency, Skin ulcer, Type II diabetes mellitus ORPHA:2047
Hawkinsinuria
Sparse hair, Failure to thrive, Hypothyroidism, Fine hair ORPHA:2118
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Polycystic ovaries, Thin toenail... ORPHA:2228
Scheie Syndrome
Corneal opacity, Retinal degeneration OMIM:607016
Weaver Syndrome
Deep-set nails, Inguinal hernia, Abnormal fingernail morphology, Camptodactyly of finger, Redunda... ORPHA:3447
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Liver Disease, Severe Congenital
Dermal translucency, Dry hair, Inguinal hernia, Failure to thrive, Epicanthus, Biliary hyperplasi... OMIM:619991
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Naxos Disease
Sparse scalp hair, Curly hair, Abnormality of hair texture, Hyperhidrosis, Woolly hair ORPHA:34217
Coffin-Siris Syndrome 1
Sparse scalp hair, Dry hair, Inguinal hernia, Ptosis, Congenital diaphragmatic hernia, Hypoplasti... OMIM:135900
Fish-Eye Disease
Decreased HDL cholesterol concentration, Corneal opacity ORPHA:79292
Alg6-Cdg
Rod-cone dystrophy, Hypoalbuminemia, Decreased LDL cholesterol concentration, Retinal degeneration ORPHA:79320
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Pallor, Albinism ORPHA:2786
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Ptosis, Sparse eyelashes, Decreased response to growth hormone stimul... OMIM:615280
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er... OMIM:104100
Dracunculiasis
Flexion contracture, Low-grade fever, Skin ulcer, Cellulitis ORPHA:231
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Sparse... OMIM:602400
Chylomicron Retention Disease
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:246700
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E... ORPHA:2788
Carvajal Syndrome
Woolly hair ORPHA:65282
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenes... OMIM:615145
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Cutis Laxa, Autosomal Recessive, Type Iia
Inguinal hernia, Brittle hair, Lipodystrophy, Redundant skin, Abnormality of hair texture, Cutis ... OMIM:219200
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Walker-Warburg Syndrome
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Retinal dystrophy, Optic ... ORPHA:899
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... OMIM:612109
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... OMIM:242150
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Griscelli Syndrome Type 2
Fever, Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Pet... ORPHA:79477
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Werner Syndrome
Sparse scalp hair, Abnormality of retinal pigmentation, Lipodystrophy, Lipoatrophy, Abnormal hair... ORPHA:902
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Nasolacrimal duct obstruction, Skin ulcer, Fine hair,... ORPHA:978
X-Linked Agammaglobulinemia
Fever, Alopecia, Hypopigmented skin patches, Skin ulcer, Weight loss, Conjunctivitis, Cellulitis,... ORPHA:47
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Onycholysis, Pt... ORPHA:525
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair texture, Widow's pe... ORPHA:1520
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Cardiofaciocutaneous Syndrome 2
Curly hair, Absent eyebrow, Fine hair, Sparse hair, Ptosis OMIM:615278
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Epicanthus, Diabetes mellitus, Dorsocervical fat pad, Hypoglycemia, Small for gestational age, Sy... ORPHA:391408
Distal Duplication 6P
Abnormal hair quantity, Abnormal eyelash morphology, Fine hair, Hernia, Blepharophimosis, Dry ski... ORPHA:1745
Sialidosis Type 2
Corneal opacity, Abnormal macular morphology ORPHA:87876
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Telecanthus, Hypopigmented skin patches, Premature graying of hair, Whi... ORPHA:895
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Malignant hyperthermia, Hypohidrosis, Abnormality of skin pigment... ORPHA:1810
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Corneal opacity ORPHA:290
Harel-Yoon Syndrome
Optic atrophy, Corneal opacity, Developmental cataract OMIM:617183
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Hepatic Lipase Deficiency
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Melanocytic nevus, Fine hair, Freckling, Pili torti ORPHA:1573
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Small for gestational age, Slow-growing hair, Tiger tail banding, Dry skin OMIM:616943
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow, Downslanted palpebral fissures OMIM:617392
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Obesity OMIM:620195
Squalene Synthase Deficiency
Epicanthus, Failure to thrive in infancy, Bilateral cryptorchidism, Elbow flexion contracture, Ab... OMIM:618156
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Trichothiodystrophy 4, Nonphotosensitive
Epicanthus, Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Keratoconj... OMIM:234050
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair, Ankle flexion contracture OMIM:619985
Leopard Syndrome 2
Curly hair, Epicanthus, Dry skin, Multiple lentigines, Cafe-au-lait spot, Downslanted palpebral f... OMIM:611554
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair, Epicanthus, Upslanted palpebral fissure, Failure to thrive, Hyperpigmenta... ORPHA:50812
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Ovarian neopla... ORPHA:2221
Chilblain Lupus 1
Abnormality of the nail, Skin ulcer OMIM:610448
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Noonan Syndrome 5
Curly hair, Epicanthus, Large for gestational age, Sparse eyebrow, Cryptorchidism, Fine hair, Caf... OMIM:611553
Brooke-Spiegler Syndrome
Skin appendage neoplasm, Salivary gland neoplasm, Skin ulcer, Abnormality of the submandibular gl... ORPHA:79493
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenails, Hypohidr... ORPHA:1028
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Failure to thrive, Abnormal eyelid morphology... ORPHA:37
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Skin ulcer, Hypohidrosis, Fine hair, Abnormality of skin pigmenta... ORPHA:1806
Bazex-Dupre-Christol Syndrome
Hyperpigmentation of the skin, Hypohidrosis, Coarse hair, Sparse hair, Trichoepithelioma, Pili to... OMIM:301845
Fg Syndrome 3
Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture OMIM:300406
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Epicanthus, Small for gestational age, Cryptorchidism, Fine hair, Recurrent hypoglycemia, Downsla... OMIM:616817
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar hyperhid... ORPHA:659
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Trichothiodystrophy 8, Nonphotosensitive
Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:619691
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation, Corneal opacity ORPHA:578
Rapp-Hodgkin Syndrome
Ptosis, Absent lacrimal punctum, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Spars... OMIM:129400
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Hypophosphatemia, Retinopathy, Iris coloboma, Aplasia/Hypop... ORPHA:2611
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Small for gestational age, Flexion contracture, Absence of subcutane... OMIM:601675
Menkes Disease
Alopecia, Brittle hair, Hypothermia, Cutis laxa, Sparse hair, Hypopigmentation of the skin OMIM:309400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Epicanthus, Abnormal dental enamel morphology, Fine hair, Blepharophimosis, Ptosis ORPHA:3236
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Cardiofaciocutaneous Syndrome 3
Curly hair, Heat intolerance, Failure to thrive, Hyperhidrosis OMIM:615279
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma ORPHA:139471
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont... ORPHA:35173
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit... ORPHA:897
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Necrobiosis Lipoidica
Atrophic scars, Diabetes mellitus, Erythema, Skin ulcer ORPHA:542592
Vulto-Van Silfhout-De Vries Syndrome
Epicanthus, Widow's peak, Fine hair, Upslanted palpebral fissure, Horizontal eyebrow OMIM:615828
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... OMIM:616050
Autosomal Dominant Hyper-Ige Syndrome
Fever, Abnormal hair morphology, Paronychia, Skin ulcer, Cellulitis, Skin vesicle, Dystrophic fin... ORPHA:2314
Infantile Myofibromatosis
Neoplasm of the pancreas, Abnormal hair morphology, Skin ulcer, Irregular hyperpigmentation, Chon... ORPHA:2591
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Dry skin, Absent hair OMIM:614940
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Retinal h... ORPHA:86839
Ataxia-Telangiectasia
Hypopigmentation of hair, Diabetes mellitus, Failure to thrive, Polycystic ovaries, Premature gra... ORPHA:100
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Slow-growing hair, Abnormal hair morphology, Cryptorchidism, Upslanted palpebral fissure, Uncomba... ORPHA:3082
Peeling Skin Syndrome 1
Brittle hair, Onycholysis, Scaling skin, Palmoplantar hyperhidrosis, Nail dystrophy OMIM:270300
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Camptodactyly of finger, Coarse hair, Joint contracture of the 5th finger, Sparse hair ORPHA:1883
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Noonan Syndrome 6
Curly hair, Epicanthus, Long eyebrows, Cryptorchidism, Bilateral ptosis, Low posterior hairline, ... OMIM:613224
Naegeli-Franceschetti-Jadassohn Syndrome
Anhidrosis, Flexion contracture of finger, Subungual hyperkeratosis, Hyperpigmentation in sun-exp... ORPHA:69087
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Dermatoosteolysis, Kirghizian Type
Fever, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dystrophic toenail ORPHA:1657
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... ORPHA:85167
Leopard Syndrome 3
Few cafe-au-lait spots, Curly hair, Low posterior hairline, Multiple lentigines, Palpebral thicke... OMIM:613707
Intermediate Uveitis
Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ... ORPHA:279914
Mucolipidosis Iii Alpha/Beta
Increased serum beta-hexosaminidase, Hyperopic astigmatism, Opacification of the corneal stroma, ... OMIM:252600
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Cataract, Corneal opacity, Optic nerve hypoplasia ORPHA:496790
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Fever, Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, A... OMIM:305100
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Smith-Kingsmore Syndrome
Curly hair, Hypoglycemia, Large for gestational age, Cryptorchidism, Umbilical hernia, Cafe-au-la... OMIM:616638
Trichohepatoenteric Syndrome 2
Brittle hair, Small for gestational age, Uncombable hair, Sparse hair, Woolly hair, Failure to th... OMIM:614602
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Inguinal hernia, Epicanthus, Abnormal dental enamel morphology, Supernumerary nipple, Abnormal ey... ORPHA:1812
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Concave nail, Cryptorchidism, Blue irides, Fine hair, Small nail... OMIM:300978
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Fragile nails, Hypergly... ORPHA:79474
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Periorbital wrinkles, Sparse hair, Pe... OMIM:224900
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Corneal arcus, Abnormal LDL cholesterol concentration OMIM:603776
Isolated Agammaglobulinemia
Fever, Failure to thrive, Skin ulcer, Cellulitis ORPHA:229717
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Cystinosis
Retinopathy, Hypokalemia, Corneal opacity, Hypophosphatemia ORPHA:213
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Telecanthus, Abnormal hair morphology, ... ORPHA:894
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Noonan Syndrome 8
Curly hair, Epicanthus, Large for gestational age, Cryptorchidism, Palmoplantar cutis laxa, Failu... OMIM:615355
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Anhidrosis, Dystrophic toenail OMIM:619209
Sialidosis Type 1
Retinopathy, Cherry red spot of the macula, Cataract, Corneal opacity ORPHA:812
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252605
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... ORPHA:529808
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Epicanthus, Bilateral ptosis, Synophrys, Upslanted palpebral fissure, Coarse hair OMIM:616351
Acute Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... ORPHA:529799
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Cryptorchidism, Blue irides, Obesity, Congenital hypothyroidism, Red hair, Fai... OMIM:614613
Costello Syndrome
Deep-set nails, Epicanthus, Generalized hyperpigmentation, Abnormal fingernail morphology, Redund... ORPHA:3071
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals OMIM:210370
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... OMIM:300953
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Prolidase Deficiency
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Erythema, Low anterior hairl... ORPHA:742
Fetal Hydantoin Syndrome
Ptosis, Epicanthus, Cryptorchidism, Low posterior hairline, Coarse hair, Hernia, Hypoplastic fing... ORPHA:1912
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Redundant neck skin, Lipodystrophy, Thick hair, Redundant skin, Abnormal subcuta... ORPHA:357074
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration... OMIM:236670
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:177910
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Cryptorchidism, Low posterior hairline, ... ORPHA:163654
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Cushing Disease
Sparse scalp hair, Striae distensae, Diabetes mellitus, Dorsocervical fat pad, Paradoxical increa... ORPHA:96253
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Reticular Dysgenesis
Fever, Failure to thrive, Skin ulcer, Weight loss ORPHA:33355
Hall-Riggs Syndrome
Epicanthus, Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Coarse hair, Failur... ORPHA:2107
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Cataract, Corneal opacity, Optic atrophy, Developmental cataract, Yellow... ORPHA:93400
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Abnormality of retinal pigmentation, Sparse hair ORPHA:1264
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
19Q13.11 Microdeletion Syndrome
Failure to thrive, Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Sparse or absent ey... ORPHA:217346
2Q32Q33 Microdeletion Syndrome
Sparse hair, Downslanted palpebral fissures, Decreased testicular size, Fine hair ORPHA:251019
Dyskeratosis Congenita
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Abnormal fing... ORPHA:1775
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Limited Cutaneous Systemic Sclerosis
Foot joint contracture, Hypopigmented skin patches, Skin ulcer, Abnormality of skin pigmentation,... ORPHA:220402
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Irregul... ORPHA:634
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Generalized hirsutism, Skin ulcer ORPHA:2218
Prolidase Deficiency
Skin ulcer, Low posterior hairline, Facial hirsutism, Failure to thrive, Petechiae, Ptosis OMIM:170100
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Incontinentia Pigmenti
Ridged nail, Alopecia, Scarring, Supernumerary nipple, Erythema, Nail pits, Fine hair, Abnormalit... OMIM:308300
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus OMIM:144010
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Braddock-Carey Syndrome 1
Curly hair, Telecanthus, Camptodactyly, Sparse hair, Enamel hypoplasia, Downslanted palpebral fis... OMIM:619980
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ... ORPHA:425
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Pyoderma gangrenosum OMIM:616576
Koolen-De Vries Syndrome
Hypopigmentation of hair, Epicanthus, Abnormal dental enamel morphology, Abnormality of hair text... ORPHA:96169
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Corneal opacity ORPHA:585
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Palmoplantar scaling skin, Nail dystrophy, Palmoplant... OMIM:605676
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Abnormality of the anterior pituitary, Upslanted palpebral fissure, Coars... ORPHA:75389
Hypohidrosis With Abnormal Palmar Dermal Ridges
Fever, Decreased number of sweat glands, Hypohidrosis OMIM:241120
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Incontinentia Pigmenti
Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morphology, Supernumerary nipple... ORPHA:464
Mucopolysaccharidosis, Type Iiia
Inguinal hernia, Synophrys, Coarse hair, Umbilical hernia, Hirsutism OMIM:252900
Buerger Disease
Skin ulcer, Hyperhidrosis ORPHA:36258
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Trichorrhexis nodosa, Abnormality of temperature regulation, Highly arched eyebrow, Hyperhidrosis OMIM:619173
Xfe Progeroid Syndrome
Optic atrophy, Hypoalbuminemia, Corneal scarring, Attenuation of retinal blood vessels OMIM:610965
Cutis Laxa, Autosomal Recessive, Type Iiib
Inguinal hernia, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Fine hair, Cutis... OMIM:614438
Mucopolysaccharidosis, Type Iiic
Synophrys, Coarse hair, Hernia, Hirsutism, Hypertrichosis OMIM:252930
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Epicanthus, Redundant neck skin, Telecanthus, Highly arched eyebrow, Low posterior ha... OMIM:617360
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding OMIM:616390
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Large for gestational age, Cryptorchidism, Hypopigmented skin patches, Cafe-au-lait s... ORPHA:457485
Non-Epidermolytic Palmoplantar Keratoderma
Erythema, Skin ulcer ORPHA:2337
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Fever, Panniculitis, Skin ulcer, Weight loss ORPHA:86884
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Joubert Syndrome 35
Telecanthus, Abnormality of temperature regulation, Highly arched eyebrow, Synophrys, Ptosis OMIM:618161
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Cataract, Corneal opacity ORPHA:309288
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Giant Axonal Neuropathy
Woolly hair, Abnormal pituitary gland morphology, Pili canaliculi ORPHA:643
Cardiofaciocutaneous Syndrome
Brittle hair, Redundant skin, Sparse hair, Dystrophic fingernails, Abnormal eyelash morphology, C... ORPHA:1340
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Anhidrosis, Corneal scarring, Acral ulceration, Nail dystrophy, Nail dysplasia... OMIM:256800
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair, Hydrocele testis, Hypocholesterolemia OMIM:618810
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Chand Syndrome
Curly hair, Ankyloblepharon, Nail dysplasia OMIM:214350
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Leukonychia, Nail dystrophy, Woolly hair, Fragile nails OMIM:615821
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Noonan Syndrome 7
Curly hair, Epicanthus, Large for gestational age, Hyperhidrosis, Low posterior hairline, Palpebr... OMIM:613706
Juvenile Sialidosis Type 2
Optic atrophy, Cherry red spot of the macula, Cataract, Corneal opacity ORPHA:93399
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Epicanthus, Sparse eyebrow, Synophrys, Sparse hair, Downslanted palpebral fissures OMIM:620075
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:411515
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Optic nerve hypoplasia, Astigmatism, Corneal opacity, Elevated circulating creatine kinase concen... OMIM:301056
Takayasu Arteritis
Fever, Weight loss, Skin ulcer, Hyperhidrosis ORPHA:3287
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Hirsutism, Woolly hair, Dry skin, B... OMIM:619244
Chronic Mucocutaneous Candidiasis
Abnormality of temperature regulation, Abnormal fingernail morphology, Abnormal dental enamel mor... ORPHA:1334
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Rod-cone dystrophy,... ORPHA:14
Giant Cell Arteritis
Fever, Alopecia, Skin ulcer, Weight loss, Hyperhidrosis, Ptosis ORPHA:397
Trichohepatoneurodevelopmental Syndrome
Curly hair, Ptosis, Epicanthus, Ectropion, Cholelithiasis, Almond-shaped palpebral fissure, Synop... OMIM:618268
Papa Syndrome
Type I diabetes mellitus, Fever, Skin ulcer ORPHA:69126
Ogden Syndrome
Inguinal hernia, Cryptorchidism, Cutis laxa, Fine hair, Downslanted palpebral fissures, Aplasia/H... ORPHA:276432
Brachycephaly, Trichomegaly, And Developmental Delay
Epicanthus, Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow OMIM:617412
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Familial Dysautonomia
Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Heteroc... ORPHA:1764
Phacoanaphylactic Uveitis
Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Vitritis, Abnormal... ORPHA:209959
Zellweger Syndrome
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Optic atrophy, Po... ORPHA:912
Neurotrophic Keratopathy
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... ORPHA:137596
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Noonan Syndrome 14
Curly hair, Epicanthus, Lacrimal duct stenosis, Sparse eyebrow, Cryptorchidism, Hyperhidrosis, Lo... OMIM:619745
Olmsted Syndrome 2
Sparse hair, Woolly hair, Flexion contracture of digit, Alopecia universalis OMIM:619208
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Corneal arcus OMIM:143890
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Abnormality of retinal pigmentation, Epicanthus, Abnormal nasolacrimal system morph... ORPHA:2526
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Failure to thrive, Slow-growing hair, Trichorrhexis nodosa, Xerostomia, H... ORPHA:238468
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Skin ulcer ORPHA:139578
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Noonan Syndrome 9
Curly hair, Sparse eyebrow, Cryptorchidism, Downslanted palpebral fissures, Ptosis OMIM:616559
Brittle Cornea Syndrome 1
Epicanthus, Atypical scarring of skin, Palmoplantar cutis laxa, Red hair, Dentinogenesis imperfecta OMIM:229200
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Fine hair ORPHA:1839
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Avian Influenza
Hypoalbuminemia, Conjunctivitis, Elevated circulating creatine kinase concentration, Elevated cir... ORPHA:454836
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair, Blepharophimosis, Umbilical h... ORPHA:3079
Digital Extensor Muscle Aplasia-Polyneuropathy
Heat intolerance, Abnormality of temperature regulation, Camptodactyly of finger, Hypohidrosis ORPHA:2926
Gorlin-Chaudhry-Moss Syndrome
Abnormal eyelid morphology, Low anterior hairline, Upper eyelid coloboma, Coarse hair, Umbilical ... ORPHA:2095
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Symblepharon, Recurrent loss of toenails and fingernails, Skin ulcer, Nail dystrophy, Enamel hypo... OMIM:245660
Leishmaniasis
Hypoalbuminemia ORPHA:507
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Absent lacrimal punctum, Generalized hyperpigmentation, Sparse eyelashes, Abnormal dental enamel ... ORPHA:1071
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Telecanthus, Cryptorchidism, Fine hair, Upslanted palpebral fissure ORPHA:228390
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Skin ulcer, Upslanted palpeb... ORPHA:231226
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Frontonasal Dysplasia 2
Telecanthus, Sparse eyelashes, Alopecia totalis, Blepharophimosis, Sparse eyebrow, Bilateral cryp... OMIM:613451
Noonan Syndrome 4
Curly hair, Epicanthus, Large for gestational age, Sparse eyebrow, Cryptorchidism, Bilateral ptos... OMIM:610733
Cerebrofaciothoracic Dysplasia
Epicanthus, Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Hernia, Downsl... ORPHA:1394
Beta-Thalassemia
Cholelithiasis, Abnormality of temperature regulation, Pallor, Skin ulcer ORPHA:848
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Synophrys, Obesity, Fine hair, Upslanted palpebral fissure, Long eyelashes, Downslanted palpebral... OMIM:620250
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity, Hypocalcemia, Hyperphosphatemia ORPHA:2323
Ablepharon Macrostomia Syndrome
Omphalocele, Absent eyebrow, Ablepharon, Camptodactyly of finger, Abnormal hair pattern, Redundan... ORPHA:920
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Epicanthus, Fine hair, Upslanted palpebral fissure, Narrow palpebral fissure, Long palpebral fissure ORPHA:363686
Trisomy 20P
Inguinal hernia, Epicanthus, Thick hair, Highly arched eyebrow, Camptodactyly of finger, Blepharo... ORPHA:261318
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Failure to thrive OMIM:617988
Macrocephaly/Autism Syndrome
Epicanthus, Large for gestational age, Obesity, Cutis laxa, Hydrocele testis, Coarse hair OMIM:605309
Polyarteritis Nodosa
Fever, Erythema, Skin ulcer, Weight loss ORPHA:767
Copper Deficiency, Familial Benign
Curly hair, Failure to thrive, Early balding OMIM:121270
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Failure to thrive in infancy, Skin ulcer, Iris hypopigmentation ORPHA:834
Juvenile Dermatomyositis
Fever, Alopecia, Palpebral edema, Erythema, Skin ulcer, Weight loss, Dry skin ORPHA:93672
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Corneal erosion, Decreased serum zinc, Hypoalbuminemia, Decreased circulati... ORPHA:89842
Trichothiodystrophy 3, Photosensitive
Brittle hair, Bilateral cryptorchidism, Tiger tail banding, Failure to thrive, Trichorrhexis nodo... OMIM:616395
Netherton Syndrome
Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Failure to thrive OMIM:256500
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Brittle hair, Failure to thrive, Hypopigmentation of the skin, Pancreatitis OMIM:236200
Galloway-Mowat Syndrome 1
Cataract, Optic atrophy, Hypoplasia of the iris, Hypoalbuminemia, Opacification of the corneal st... OMIM:251300
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity ORPHA:357058
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Galactosialidosis
Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma OMIM:256540
Scalp-Ear-Nipple Syndrome
Epicanthus, Telecanthus, Palpebral edema, Sparse axillary hair, Blepharophimosis, Sparse pubic ha... OMIM:181270
Pyoderma Gangrenosum
Skin vesicle, Atrophic scars, Fever, Skin ulcer ORPHA:48104
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Elevated circulating creatine kinase concentration, Retinal arteriolar tortuosit... OMIM:175780
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation, Skin ulcer ORPHA:1117
Combined Oxidative Phosphorylation Deficiency 37
Chorioretinal hyperpigmentation, Hyperalaninemia, Optic atrophy, Hypoalbuminemia OMIM:618329
2P15P16.1 Microdeletion Syndrome
Inguinal hernia, Epicanthus, Telecanthus, Camptodactyly of finger, Supernumerary nipple, Sparse e... ORPHA:261349
Menkes Disease
Hypopigmentation of hair, Inguinal hernia, Hypoglycemia, Hypothermia, Atypical scarring of skin, ... ORPHA:565
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Koolen-De Vries Syndrome
Ptosis, Epicanthus, Fair hair, Small for gestational age, Abnormality of hair texture, Cryptorchi... OMIM:610443
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Mucopolysaccharidosis, Type Iiib
Synophrys, Coarse hair, Hirsutism OMIM:252920
Trichothiodystrophy
Ridged nail, Brittle hair, Multiple joint contractures, Conjunctivitis, Tiger tail banding, Dystr... ORPHA:33364
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Lack of skin elasticity ORPHA:79254
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Dermal translucency, Ptosis, Slow-growing hair, Lacrimal duct stenosis, Highly arched... OMIM:617506
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Skin ulcer, Upslanted palpeb... ORPHA:231214
Spinocerebellar Ataxia-Dysmorphism Syndrome
Epicanthus, Coarse hair, Ptosis ORPHA:1185
Infantile Systemic Hyalinosis
Camptodactyly of finger, Skin ulcer, Polycystic ovaries, Steatorrhea, Failure to thrive, Hyperpig... ORPHA:2176
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Multiple Sulfatase Deficiency
Corneal opacity, Retinal degeneration OMIM:272200
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair, Epicanthus, Almond-shaped palpebral fissure, Failure to thrive, Short palpebral fissure OMIM:300986
Eec Syndrome
Entropion, Slow-growing hair, Abnormal dental enamel morphology, Decreased response to growth hor... ORPHA:1896
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormality of skin pigmentation, Skin ulcer, Purpura ORPHA:743
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Synophrys, Fine hair OMIM:619428
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Reticulated skin pigmentation, Cryptorchidism, Fine hair, Premature graying of hair, Na... OMIM:613990
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Small for gestational age, Failure to thrive in infancy, Flexion contracture, Fine ... OMIM:618891
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity ORPHA:2409
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Inguinal hernia, Epicanthus, Large for gestational age, Cryptorchi... OMIM:607721
Reynolds Syndrome
Fever, Xerostomia, Skin ulcer, Keratoconjunctivitis sicca, Irregular hyperpigmentation ORPHA:779
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ... OMIM:258360
Oculodentodigital Dysplasia
Curly hair, Epicanthus, Brittle hair, Slow-growing hair, Abnormal dental enamel morphology, Campt... ORPHA:2710
Livedoid Vasculopathy
Diabetes mellitus, Hyperpigmented streaks, Skin ulcer, Atrophic scars, Macular purpura, Graves di... ORPHA:542643
Galloway-Mowat Syndrome 9
Almond-shaped palpebral fissure, Coarse hair, Hiatus hernia OMIM:619603
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Opacification of the c... OMIM:214110
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pyoderma gangrenosum, Cellulitis, Elbow flexion contracture, Knee flexion contracture OMIM:604416
Neutrophilic Dermatosis, Acute Febrile
Erythema, Panniculitis, Pyoderma gangrenosum, Recurrent fever OMIM:608068
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Synophrys, Hypopigmented skin... ORPHA:3440
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Adenoma sebaceum, Multipl... ORPHA:3353
Gm1 Gangliosidosis
Corneal opacity, Abnormal retinal vascular morphology, Optic atrophy, Retinopathy of prematurity,... ORPHA:354
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... OMIM:190350
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Chilblain Lupus
Skin ulcer ORPHA:90280
Acrofacial Dysostosis, Catania Type
Inguinal hernia, Abnormal hair pattern, Cryptorchidism, Coarse hair, Downslanted palpebral fissures ORPHA:1786
Cryoglobulinemic Vasculitis
Fever, Skin ulcer, Keratoconjunctivitis sicca, Petechiae, Purpura ORPHA:91138
Dermatomyositis
Abnormal hair quantity, Fever, Abnormal eyelid morphology, Erythema, Skin ulcer, Weight loss, Cel... ORPHA:221
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Heat into... ORPHA:411511
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Mucopolysaccharidosis-Plus Syndrome
Epicanthus, Telecanthus, Synophrys, Flexion contracture, Low anterior hairline, Low posterior hai... OMIM:617303
Weaver Syndrome
Deep-set nails, Inguinal hernia, Epicanthus, Thin nail, Cryptorchidism, Fine hair, Cutis laxa, Hy... OMIM:277590
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Skin ulcer, Weight loss ORPHA:312
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor... OMIM:243605
Farber Disease
Corneal opacity, Macular degeneration, Abnormal conjunctiva morphology, Opacification of the corn... ORPHA:333
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Hajdu-Cheney Syndrome
Inguinal hernia, Failure to thrive, Abnormal fingernail morphology, Telecanthus, Synophrys, Low a... ORPHA:955
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Epicanthus, Cutis laxa, Thick eyebrow, Fine hair OMIM:614800
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Heat intolerance, Iris hypopigmentation ORPHA:98795
Craniofrontonasal Syndrome
Ridged nail, Curly hair, Split nail, Telecanthus, Congenital diaphragmatic hernia, Cryptorchidism... OMIM:304110
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity OMIM:163200
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Erythema, Xerostomia, Hypopigmented skin patches, Skin ulcer, Keratoconj... ORPHA:2907
Calciphylaxis
Skin ulcer, Secondary hyperparathyroidism, Cellulitis ORPHA:280062
Oculodentodigital Dysplasia, Autosomal Recessive
Epicanthus, Telecanthus, Sparse eyelashes, Fine hair, Sparse hair, Failure to thrive, Downslanted... OMIM:257850
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Ectodermal Dysplasia And Immunodeficiency 2
Anhidrosis, Sparse scalp hair, Failure to thrive, Hypohidrosis, Aplasia of the sweat glands, Spar... OMIM:612132
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Scheie Syndrome
Corneal opacity ORPHA:93474
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Ocular albinism, Choroideremia, Iris hypopigmentation ORPHA:2719
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Oc... OMIM:612582
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Woodhouse-Sakati Syndrome
Alopecia, Diabetes mellitus, Hyperlipidemia, Fine hair, Sparse hair, Decreased testicular size OMIM:241080
Ocular Cystinosis
Corneal crystals ORPHA:411641
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Inguinal hernia, Small for gestational age, Cafe-au-lait ... ORPHA:84064
Wagro Syndrome
Aniridia, Cataract, Corneal opacity OMIM:612469
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Noonan Syndrome 2
Curly hair, Epicanthus, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Palmoplantar cuti... OMIM:605275
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Hypopigmented skin patches, Fine hair, Truncal obesity, Narrow palpebral fissure, Multiple cafe-a... ORPHA:2637
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Epicanthus, Slow-growing hair, Absent eyelashes, Low posterior hairli... OMIM:115150
Cranioectodermal Dysplasia 3
Telecanthus, Short nail, Broad nail, Cutis laxa, Fine hair, Sparse hair, Dry skin OMIM:614099
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Increased body weig... ORPHA:99889
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Epicanthus, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Ollier Disease
Skin ulcer ORPHA:296
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Ulnar-Mammary Syndrome
Abnormality of temperature regulation, Abnormal fingernail morphology, Camptodactyly of finger, H... ORPHA:3138
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Ptosis ORPHA:53271
Fusariosis
Fever, Fasciitis, Paronychia, Skin ulcer, Panniculitis, Cellulitis ORPHA:228119
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Acute Radiation Syndrome
Fever, Skin ulcer, Scaling skin, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:454831
Stuve-Wiedemann Syndrome 1
Fever, Abnormality of temperature regulation, Short palpebral fissure, Elbow flexion contracture,... OMIM:601559
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Aicardi-Goutieres Syndrome 9
Optic atrophy, Hypoalbuminemia, Chorioretinal atrophy OMIM:619487
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Umbilical hernia, Inguinal hernia, Failure to thrive, Abnormality of hair texture ORPHA:79351
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Almond-shaped palpebral fissure, Cryptorchidism, Flexion contracture, X... ORPHA:398069
Schimke Immunoosseous Dysplasia
Fever, Small for gestational age, Hypermelanotic macule, Bilateral cryptorchidism, Fine hair, Coa... OMIM:242900
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Kayser-Fleischer ring, Hypoalbum... OMIM:277900
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Corneal opacity ORPHA:1830
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Skin ulcer, Adrenal insufficiency, Pallor, Cholelithiasis,... ORPHA:231222
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Multiple ... OMIM:160980
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia OMIM:251880
Lateral Meningocele Syndrome
Inguinal hernia, Telecanthus, Cryptorchidism, Coarse hair, Umbilical hernia, Keloids, Downslanted... OMIM:130720
Opitz-Kaveggia Syndrome
Inguinal hernia, Multiple joint contractures, Epicanthus, Facial wrinkling, Cryptorchidism, Fine ... OMIM:305450
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Epicanthus, Fine hair, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow OMIM:614091
Hurler Syndrome
Retinal degeneration, Corneal opacity, Opacification of the corneal stroma OMIM:607014
Diamond-Blackfan Anemia 21
Unilateral ptosis, Synophrys, Widow's peak, Obesity, Coarse hair, Horizontal eyebrow, Downslanted... OMIM:620072
Chime Syndrome
Epicanthus, Erythema, Skin ulcer, Fine hair, Upslanted palpebral fissure, Sparse hair, Ptosis ORPHA:3474
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal eyelid morphology, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of ... ORPHA:2273
Prader-Willi Syndrome
Hypopigmentation of hair, Failure to thrive in infancy, Decreased response to growth hormone stim... OMIM:176270
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Epicanthus, Small for gestational age, Chalazion OMIM:613355
Hereditary Sensory And Autonomic Neuropathy Type 1
Penetrating foot ulcers, Skin ulcer ORPHA:36386
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Hypoalbuminemia ORPHA:79396
Cartilage-Hair Hypoplasia
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair OMIM:250250
Ritscher-Schinzel Syndrome 4
Curly hair, Downslanted palpebral fissures, Cryptorchidism OMIM:619435
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion contracture, C... OMIM:612394
Hallermann-Streiff Syndrome
Alopecia, Telecanthus, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchid... ORPHA:2108
Autosomal Dominant Severe Congenital Neutropenia
Fever, Pyoderma gangrenosum, Cellulitis ORPHA:486
Congenital Disorder Of Glycosylation, Type Ia
Rod-cone dystrophy, Hypoalbuminemia, Hypocholesterolemia OMIM:212065
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Freckling, Albinism, Ocular albinism, Me... OMIM:203300
Chops Syndrome
Curly hair, Thick hair, Cryptorchidism, Synophrys, Obesity, Coarse hair, Long eyelashes, Thick ey... OMIM:616368
3Q29 Microduplication Syndrome
Aniridia, Cataract, Iris coloboma, Sclerocornea ORPHA:251038
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Noonan Syndrome 10
Curly hair, Epicanthus, Sparse eyebrow, Cryptorchidism, Palmoplantar cutis laxa, Cafe-au-lait spo... OMIM:616564
Familial Multiple Nevi Flammei
Irregular hyperpigmentation, Hypermelanotic macule, Skin ulcer ORPHA:624
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Alg12-Cdg
Hyponatremia, Retinal detachment, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Almond-shaped palpebral fissure, Cryptorchidism, Xerostomia, Obesity, C... ORPHA:398079
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Heat into... ORPHA:98794
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Abnormal size of the palpebral fissures, Hypopigmented skin patches, Mu... ORPHA:3214
Mucoepithelial Dysplasia, Hereditary
Alopecia, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic... OMIM:158310
Naxos Disease
Curly hair, Subungual hyperkeratosis, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... OMIM:601214
Combined Immunodeficiency Due To Dock8 Deficiency
Skin ulcer ORPHA:217390
Mucopolysaccharidosis, Type Ivb
Corneal opacity, Opacification of the corneal stroma OMIM:253010
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Small for gestational age, Fine hair, Cafe-au-lait spot, Sparse hair, W... OMIM:222470
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Hip contracture, Coarse hair, Knee flexion contracture OMIM:118650
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Optic atrophy, Conjunctivitis, Hypoalbuminemia ORPHA:505248
Mucopolysaccharidosis, Type Iiid
Inguinal hernia, Synophrys, Achilles tendon contracture, Hirsutism, Elbow flexion contracture, Co... OMIM:252940
Fucosidosis
Corneal opacity ORPHA:349
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Episodic hyperhidrosis, Acral ulceration, Paronychia, Anhidrosis OMIM:201300
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Fever, Skin ulcer, Panniculitis, Type I diabetes mellitus, Hashimoto thyroiditis, Recurrent fever... OMIM:615688
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Curly hair, Epicanthus, Low anterior hairline, Upslanted pal... OMIM:619950
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Dubowitz Syndrome
Hypoparathyroidism, Sparse scalp hair, Ptosis, Epicanthus, Abnormal fingernail morphology, Teleca... ORPHA:235
Deeah Syndrome
Epicanthus, Abnormality of temperature regulation, Decreased response to growth hormone stimulati... OMIM:619004
Genitopatellar Syndrome
Sparse scalp hair, Hip contracture, Cryptorchidism, Knee flexion contracture, Fine hair, Arthrogr... ORPHA:85201
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Foot joint contracture, Sparse eyebrow, Cryptorchidism, Fine hair, S-shaped palp... ORPHA:444072
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair, Dermal translu... OMIM:612199
Systemic Sclerosis
Alopecia, Nail bed telangiectasia, Flexion contracture, Spotty hypopigmentation, Digital ulcer, H... ORPHA:90291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, Bup... OMIM:253280
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Inguinal hernia, Hyperparathyroidism, Abnormal dental enamel morphology, Crypt... ORPHA:534
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Pyoderma gangrenosum, Recurrent fever OMIM:150550
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Anhidrosis, Skin ulcer OMIM:613640
Tangier Disease
Hypertriglyceridemia, Corneal opacity, Hypocholesterolemia ORPHA:31150
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Mucopolysaccharidosis Type 1
Retinopathy, Optic atrophy, Corneal opacity ORPHA:579
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ptosis, Inguinal hernia, Telecanthus, Epicanthus, Highly arched eyebrow, Large for gestational ag... OMIM:280000
Orofaciodigital Syndrome Type 3
Abnormality of hair texture ORPHA:2752
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy, Cataract, Sclerocornea OMIM:614230
Mucopolysaccharidosis, Type Vii
Epicanthus, Flexion contracture, Hirsutism, Coarse hair, Umbilical hernia, Thick eyebrow OMIM:253220
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Decreased response to gro... ORPHA:98754
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Epicanthus, Abnormal dental enamel morphology, Telecanthus, Pancreatic cy... ORPHA:2750
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Craniolenticulosutural Dysplasia
Brittle hair, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperpigmentation of th... ORPHA:50814
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Focal Dermal Hypoplasia
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Chorioretinal coloboma, Iris coloboma ORPHA:2092
Mucopolysaccharidosis Type 3
Cataract, Corneal opacity, Optic atrophy, Pigmentary retinopathy, Opacification of the corneal st... ORPHA:581
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Pancreatitis, Hereditary
Fever, Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreati... OMIM:167800
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Decreased response to gro... ORPHA:98793
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair, Downslanted palpebral fissures ORPHA:85184
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Hyperlipidemia, Optic ... ORPHA:324
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Cryptorchidism, F... OMIM:234100
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Decreased response to gro... ORPHA:177904
Revesz Syndrome
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Fine, reticulate skin pigmentation, Ridged fin... OMIM:268130
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Decreased response to gro... ORPHA:177901
Fontaine Progeroid Syndrome
Redundant skin, Synophrys, Low anterior hairline, Coarse hair, Cryptorchidism, Small nail, Umbili... OMIM:612289
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity, Hypermyelinated retinal nerve fibers OMIM:601812
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Hypopigmented skin patches, H... ORPHA:163746
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Episodic hyperhidrosis, Acral ulceration OMIM:613115
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Abnormal cornea morph... ORPHA:411629
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Ptosis, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Decreased ... ORPHA:444077
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Epicanthus, Highly arched eyebrow, Cryptorchidism, Fine hair, Low posterior hairline, Cafe-au-lai... OMIM:613563
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Brittle hair OMIM:619184
De Barsy Syndrome
Cataract, Corneal opacity, Abnormal fundus fluorescein angiography ORPHA:2962
Microscopic Polyangiitis
Fever, Erythema, Pancreatitis, Skin ulcer ORPHA:727
Cockayne Syndrome Type 1
Abnormality of temperature regulation, Foot joint contracture, Scarring, Hypermelanotic macule, C... ORPHA:90321
Pfapa Syndrome
Abnormality of temperature regulation, Weight loss ORPHA:42642
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Cryptorchidism, Dacryocystitis, Fine hair, Sparse hair, Downslanted palpebral fissures, Decreased... ORPHA:251028
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism, Skin ulcer ORPHA:352723
Leprosy
Absent eyebrow, Alopecia, Loss of eyelashes, Penetrating foot ulcers, Testicular mass, Hypohidros... ORPHA:548
Costello Syndrome
Deep-set nails, Curly hair, Epicanthus, Redundant neck skin, Hypoglycemia, Thin nail, Hyperpigmen... OMIM:218040
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Inguinal hernia, White hair, Fine hair ORPHA:935
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Chand Syndrome
Curly hair, Ankyloblepharon, Hypohidrosis, Nail dysplasia, Dry skin ORPHA:1401
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Chronic Graft Versus Host Disease
Alopecia, Fasciitis, Flexion contracture, Xerostomia, Erythema, Skin ulcer, Weight loss, Abnormal... ORPHA:99921
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Corneal opacity, Chorioretinal dysplasia, Sclerocornea, Reti... ORPHA:2556
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Astigmatism, Corneal opacity, Optic disc pallor ORPHA:464311
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Corneal opacity ORPHA:488632
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Hereditary Spherocytosis
Fever, Cholelithiasis, Pallor, Skin ulcer ORPHA:822
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Xerostomia, Skin ulcer ORPHA:220393
Brittle Cornea Syndrome
Corneal scarring, Abnormality of hair pigmentation, Hernia, Camptodactyly ORPHA:90354
Hurler Syndrome
Retinopathy, Corneal opacity ORPHA:93473
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation ORPHA:98757
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Distal Deletion 12Q
Telecanthus, Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive in infancy, Maturity... ORPHA:96149
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Congenital Disorder Of Deglycosylation 1
Hyperalaninemia, Corneal ulceration, Corneal opacity, Elevated circulating alpha-fetoprotein conc... OMIM:615273
Prader-Willi Syndrome
Hypopigmentation of hair, Diabetes mellitus, Decreased response to growth hormone stimulation tes... ORPHA:739
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Fever, Symblepharon, Trichiasis, Xerostomia, Skin ulcer, Atypical scarring of skin, Keratoconjunc... ORPHA:95455
Adrenomyeloneuropathy
Frontal balding, Primary adrenal insufficiency, Adrenocorticotropic hormone excess, Fine hair, Ab... ORPHA:139399
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair, Periodic fever OMIM:616084
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Iris coloboma OMIM:309801
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Brushfield spots, Conjugated hyperbilirubinemia, Optic nerve dysplasia, Elevated circul... OMIM:614866
Histiocytoid Cardiomyopathy
Megalocornea, Optic atrophy, Corneal opacity, Congenital aphakia ORPHA:137675
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Ogden Syndrome
Inguinal hernia, Redundant neck skin, Epicanthus, Redundant skin, Maternal diabetes, Facial wrink... OMIM:300855
Chronic Granulomatous Disease
Fever, Hypermelanotic macule, Skin ulcer ORPHA:379
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Elbow flexion contrac... OMIM:618493
Mucolipidosis Ii Alpha/Beta
Hypopigmentation of the skin, Inguinal hernia, Brittle hair, Epicanthus, Palpebral edema, Sparse ... OMIM:252500
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Marshall-Smith Syndrome
Omphalocele, Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Synop... OMIM:602535
Alpha-Mannosidosis, Infantile Form
Optic disc pallor, Astigmatism, Corneal opacity, Cataract ORPHA:309282
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... ORPHA:90363
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Optic nerve hypoplasia, Posterior subcapsular cataract, Optic disc coloboma, Meg... ORPHA:536471
Meige Disease
Atypical scarring of skin, Skin ulcer, Cellulitis ORPHA:90186
3Mc Syndrome 3
Corneal opacity OMIM:248340
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Synophrys, Flexion contracture, Knee flexi... OMIM:619503
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Cataract, Brushfield spots, Pigmentary retinopathy, Opacification of the corne... OMIM:214100
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het... ORPHA:42775
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Lysinuric Protein Intolerance
Cutis laxa, Fine hair, Truncal obesity, Sparse hair, Failure to thrive, Pancreatitis OMIM:222700
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... ORPHA:580
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Epicanthus, Abnormality of hair texture, Synophrys, Abnormality of dermal melanosomes, Hypoplasti... ORPHA:73223
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig... ORPHA:2298
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma OMIM:251290
Fryns Syndrome
Corneal opacity ORPHA:2059
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Abnormal dental enamel morphology, Ocular albinism, W... ORPHA:79430
Encephalocraniocutaneous Lipomatosis
Retinopathy, Corneal opacity, Iris coloboma ORPHA:2396
Cerebellofaciodental Syndrome
Sparse eyebrow, Cryptorchidism, Fine hair OMIM:616202
Gaucher Disease
Corneal opacity, Elevated circulating C-reactive protein concentration, Cherry red spot of the ma... ORPHA:355
Dyggve-Melchior-Clausen Disease
Corneal opacity ORPHA:239
Chédiak-Higashi Syndrome
Fever, Abnormality of retinal pigmentation, Hypopigmentation of hair, Hypertriglyceridemia, Large... ORPHA:167
Neuropathy, Hereditary Sensory And Autonomic, Type V
Anhidrosis, Acral ulceration, Recurrent fever OMIM:608654
Granulomatosis With Polyangiitis
Fever, Conjunctivitis, Skin ulcer, Weight loss OMIM:608710
Sweet Syndrome
Skin vesicle, Non-periodic recurrent fever, Panniculitis, Pyoderma gangrenosum ORPHA:3243
Carpenter Syndrome 1
Microcornea, Optic atrophy, Opacification of the corneal stroma OMIM:201000
Craniolenticulosutural Dysplasia
Brittle hair, Cryptorchidism, Coarse hair, Forehead hyperpigmentation, Sparse hair OMIM:607812
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Astigmatism, Corneal opacity ORPHA:464306
Autosomal Recessive Malignant Osteopetrosis
Abnormality of temperature regulation, Pallor, Abnormality of hair texture ORPHA:667
Proboscis Lateralis
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic disc coloboma, Microcornea, Chorioretina... ORPHA:141099
Cranioectodermal Dysplasia 1
Inguinal hernia, Epicanthus, Slow-growing hair, Short nail, Thin nail, Telecanthus, Fine hair, Sp... OMIM:218330
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Thick hair, Hiatus hernia, Hypothermia, Atypical scarr... ORPHA:198
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... ORPHA:217085
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Neuroocular Syndrome
Brittle hair, Highly arched eyebrow, Lagophthalmos, Brushfield spots, Stellate iris, Synophrys, B... OMIM:619539
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Buphthalmos, Keratoconjunctivitis sicca ORPHA:495875
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... ORPHA:217093
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... ORPHA:99826
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Failure to thrive, Ptosis OMIM:124000
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Coffin-Lowry Syndrome
Inguinal hernia, Telecanthus, Highly arched eyebrow, Cutis laxa, Hyperconvex fingernails, Coarse ... OMIM:303600
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer ORPHA:424019
Moebius Syndrome
Corneal opacity ORPHA:570
Toxic Epidermal Necrolysis
Entropion, Erythema, Skin ulcer, Weight loss, Conjunctivitis, Pancreatitis ORPHA:537
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Chorioretinal coloboma, Lisch nod... ORPHA:636
Acquired Purpura Fulminans
Pyoderma gangrenosum, Macular purpura ORPHA:49566
Oculoectodermal Syndrome
Chorioretinal atrophy, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid OMIM:600268
Immunoglobulin A Vasculitis
Fever, Orchitis, Erythema, Skin ulcer, Purpura ORPHA:761
Noonan Syndrome
Abnormal hair quantity, Cryptorchidism, Melanocytic nevus, Low posterior hairline, Coarse hair, D... ORPHA:648
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Retinal dysplasia, Optic nerve dysplasia, Elevated circulating creatine kinase concentration, Opa... OMIM:615287
Blau Syndrome
Fever, Camptodactyly of finger, Erythema, Xerostomia, Skin ulcer, Abnormal salivary gland morphol... ORPHA:90340
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... OMIM:214500
Myhre Syndrome
Small for gestational age, Blepharophimosis, Cryptorchidism, Obesity, Fine hair, Narrow palpebral... OMIM:139210
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno... ORPHA:411634
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Hip contracture, Failure to thrive, Sparse eyelashes, Shoulder flexion contrac... OMIM:210710
Pgm3-Cdg
Narrow palpebral fissure, Failure to thrive, Skin ulcer ORPHA:443811
Occipital Horn Syndrome
Coarse hair, Pili torti, Redundant skin, Hiatus hernia OMIM:304150
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea OMIM:206900
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity ORPHA:1052
Wiskott-Aldrich Syndrome
Fever, Skin ulcer, Hypoplasia of the thymus, Conjunctivitis, Blepharitis, Petechiae, Purpura ORPHA:906
Meckel Syndrome
Cataract, Abnormal chorioretinal morphology, Sclerocornea, Optic atrophy, Microcornea, Aplasia/Hy... ORPHA:564
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Smith-Lemli-Opitz Syndrome
Cataract, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholester... OMIM:270400
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Inguinal hernia, Failure to thrive, Epicanthus, Biliary hyperplasia, Contracture of the distal in... ORPHA:83617
Focal Dermal Hypoplasia
Omphalocele, Ridged nail, Inguinal hernia, Brittle hair, Linear hyperpigmentation, Supernumerary ... OMIM:305600
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Erythema, Fine hair, Onycholysis, Nail dystr... OMIM:614748
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Acral ulceration OMIM:162400
Mucopolysaccharidosis, Type Vi
Corneal opacity OMIM:253200
Zttk Syndrome
Curly hair, Absent gallbladder, Epicanthus, Sparse eyebrow, Flexion contracture, Failure to thriv... OMIM:617140
Renpenning Syndrome 1
Epicanthus, Brittle hair, Telecanthus, Upslanted palpebral fissure, Camptodactyly, Sparse hair, J... OMIM:309500
Degcags Syndrome
Fever, Abnormal eyebrow morphology, Hypopigmentation of hair, Ptosis, Small for gestational age, ... OMIM:619488
Malakoplakia
Orchitis, Fever, Skin ulcer ORPHA:556
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Melnick-Needles Syndrome
Omphalocele, Coarse hair, Failure to thrive, Frontal hirsutism OMIM:309350
Familial Keratoacanthoma
Adenoma sebaceum, Skin ulcer ORPHA:493
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Amoebiasis Due To Free-Living Amoebae
Fever, Conjunctival hyperemia, Skin ulcer ORPHA:68
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Granulomatosis With Polyangiitis
Fever, Skin ulcer, Weight loss, Prostatitis, Pancreatitis, Purpura ORPHA:900
Lathosterolosis
Microcornea, Cataract, Opacification of the corneal stroma ORPHA:46059
Catastrophic Antiphospholipid Syndrome
Skin ulcer ORPHA:464343
Lathosterolosis
Cataract, Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Opacification of th... OMIM:607330
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Inguinal hernia, Epicanthus, Unilateral cryptorchidism, Decreased ... OMIM:613406
Larsen Syndrome
Corneal opacity OMIM:150250
Vascular Ehlers-Danlos Syndrome
Ptosis, Alopecia, Inguinal hernia, Telecanthus, Redundant skin, Hypoplastic lacrimal duct, Abnorm... ORPHA:286
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Noonan Syndrome 1
Epicanthus, Failure to thrive in infancy, Cryptorchidism, Low posterior hairline, Cafe-au-lait sp... OMIM:163950
Wolf-Hirschhorn Syndrome
Sclerocornea, Optic atrophy, Megalocornea, Retinopathy, Iris coloboma ORPHA:280
Cystinosis, Nephropathic
Hypopigmentation of hair, Diabetes mellitus, Failure to thrive in infancy, Retinal pigment epithe... OMIM:219800
Split Cord Malformation
Tufted hairs, Penetrating foot ulcers, Lipoma, Hyperpigmentation of the skin, Hypertrichosis ORPHA:573278
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Williams Syndrome
Abnormal circulating lipid concentration, Flat cornea, Corneal opacity, Cataract, Hypercalcemia, ... ORPHA:904
Smith-Lemli-Opitz Syndrome
Cataract, Sclerocornea, Optic atrophy, Elevated circulating 7-dehydrocholesterol concentration, I... ORPHA:818
Peters Plus Syndrome
Cataract, Corneal opacity, Optic atrophy, Microcornea, Peters anomaly, Iris coloboma, Anterior ch... ORPHA:709
Neurocardiofaciodigital Syndrome
Optic disc pallor, Cataract, Sclerocornea OMIM:619869
Primary Sjögren Syndrome
Xerostomia, Thyroiditis, Skin ulcer, Keratoconjunctivitis sicca, Vitiligo, Dry skin, Parotitis, P... ORPHA:289390
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hypoglycemia, Corneal scarring, Recurrent hypoglycemia, Acral ulceration, Failure to thrive OMIM:256810
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Optic atrophy, Opacification of the corneal str... ORPHA:910
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity ORPHA:2908
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Corneal opacity ORPHA:2072
Machado-Joseph Disease Type 1
Abnormality of temperature regulation ORPHA:276238
Machado-Joseph Disease Type 2
Abnormality of temperature regulation ORPHA:276241
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Charcot-Marie-Tooth Disease Type 4B2
Penetrating foot ulcers, Ptosis ORPHA:99956
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Machado-Joseph Disease Type 3
Abnormality of temperature regulation ORPHA:276244
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Simple Cryoglobulinemia
Weight loss, Acral ulceration, Unexplained fevers, Purpura ORPHA:91139
Wiedemann-Rautenstrauch Syndrome
Cataract, Optic disc hypoplasia, Corneal opacity, Hypertriglyceridemia, Optic atrophy, Pigmentary... ORPHA:3455
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:619381
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Telecanthus, Cyst of the ductus choledochus, Abnormal circulating thyroid hormone con... ORPHA:480880
Osteogenesis Imperfecta
Corneal opacity ORPHA:666
Central Hypoventilation Syndrome, Congenital, 1
Abnormality of temperature regulation, Downslanted palpebral fissures, Hyperhidrosis OMIM:209880
Fraser Syndrome 1
Corneal opacity OMIM:219000
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary... OMIM:263650
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Blau Syndrome
Flexion contracture of toe, Camptodactyly of finger, Skin ulcer OMIM:186580
Parkes Weber Syndrome
Scaling skin, Skin ulcer ORPHA:90307
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Acral ulceration OMIM:256840
Plague
Fever, Conjunctival hyperemia, Dry skin, Skin ulcer ORPHA:707
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Absent gallbladder, Epicanthus, Failure to thrive in infancy, Sparse eyebrow, Downsla... ORPHA:500150
Leukocyte Adhesion Deficiency, Type I
Skin ulcer OMIM:116920
Alström Syndrome
Decreased testicular size, Hypertriglyceridemia, Dorsocervical fat pad, Decreased response to gro... ORPHA:64
Leukocyte Adhesion Deficiency
Nasolacrimal sac granuloma, Pyoderma gangrenosum, Conjunctivitis, Nail dystrophy, Hyperinsulinemi... ORPHA:2968
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Yunis-Varon Syndrome
Cataract, Sclerocornea ORPHA:3472
Digeorge Syndrome
Posterior embryotoxon, Hypocalcemia, Sclerocornea OMIM:188400
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Opacification of the corneal stroma OMIM:268300
Microphthalmia, Syndromic 6
Microcornea, Retinal dystrophy, Sclerocornea OMIM:607932
Pmm2-Cdg
Cataract, Reduced thyroxin-binding globulin, Hypoalbuminemia, Photoreceptor layer loss on macular... ORPHA:79318
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Acute Transverse Myelitis
Fever, Abnormality of temperature regulation ORPHA:139417
Adenocarcinoma Of The Anal Canal
Skin ulcer ORPHA:424016
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero... OMIM:308205
Yunis-Varon Syndrome
Cataract, Sclerocornea OMIM:216340

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 Cidea

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 Cidea.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Cideatm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cideatm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cideatm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cideatm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter