Gene Summary

Name:
ectodysplasin-A receptor
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Edartm1b(KOMP)Wtsi HET Early adult 0.00
preweaning lethality, incomplete penetrance Edartm1b(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Bone  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

5 Images

Human diseases caused by Edar mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Hypoplasia of teeth, Abnormal hair morphology, Abnormality of dental morphology, Pr... ORPHA:248
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse hair, Abnormality of dental morphology, Slow-growing hair, Nail dysplasia, Anodontia, Hypo... OMIM:129490
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormality of dental morphology, Abnormality of the dentition, Thick vermilion bord... ORPHA:1810
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse hair, Abnormality of dental morphology, Everted lower lip vermilion, Thick vermilion borde... OMIM:224900

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Tooth Agenesis, Selective, 1
Hypodontia OMIM:106600
Anodontia Of Permanent Dentition
Anodontia OMIM:206780
Teeth, Supernumerary
Mesiodens, Supernumerary tooth OMIM:187100
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Malposition Of Teeth With Or Without Hypodontia/Oligodontia
Tooth malposition, Hypodontia OMIM:189490
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Tooth Agenesis, Selective, 3
Oligodontia, Microdontia OMIM:604625
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Sparse hair, Taurodontia OMIM:272980
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Trichodentoosseous Syndrome
Widely spaced teeth, Microdontia, Taurodontia, Abnormal hair morphology OMIM:190320
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Abnormal hair quantity, Periapical tooth abscess, Agenesis of in... ORPHA:3352
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Taurodontism
Taurodontia OMIM:272700
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair, Hypodontia OMIM:246500
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Agenesis of permanent teeth, Ridged nail, Concave nail, Micro... OMIM:189500
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Tooth malposition, Sparse hair, Abnormality of dental morphology, Tooth age... ORPHA:2722
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Otodental Dysplasia
Long philtrum, Pulp calcification, Taurodontia, Hypodontia OMIM:166750
Hypotrichosis 1
Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp, Amelogenesis imperfecta ORPHA:79129
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Ethanolaminosis
Cardiomegaly OMIM:227150
Tooth Agenesis, Selective, 9
Selective tooth agenesis OMIM:617275
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Canine Teeth, Absence Of Upper Permanent
Agenesis of canine OMIM:114600
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Book Syndrome
Premature graying of hair OMIM:112300
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Aniridia 3
Cataract OMIM:617142
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Cerebellar Ataxia And Ectodermal Dysplasia
Agenesis of permanent teeth, Sparse hair, Alopecia OMIM:212835
Hypotrichosis 7
Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes OMIM:604379
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Trichomegaly
Cataract OMIM:190330
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypoplastic sweat glands, Abnormality of the nail, Oligodontia, Natal tooth, Hypodontia, Sparse s... OMIM:601345
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Alopecia Areata 2
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:610753
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair, Juvenile cataract OMIM:617251
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Tooth Agenesis, Selective, 8
Microdontia, Sparse eyebrow, Sparse hair, Selective tooth agenesis OMIM:617073
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Fryns Macrocephaly
Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of permanent maxillary centr... OMIM:600302
Dental Ankylosis
Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenesis ORPHA:1077
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Pilodental Dysplasia With Refractive Errors
Brittle scalp hair, Hypodontia, Sparse scalp hair, Brittle hair, Conical incisor OMIM:262020
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Hypotrichosis 3
Sparse scalp hair OMIM:613981
Orofacial Cleft 15
Agenesis of lateral incisor, Sparse eyebrow, High anterior hairline, Bilateral cleft lip, Palate ... OMIM:616788
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... ORPHA:477781
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Sparse hair, Abnormality of the dentition, Supernumerary tooth, Uncombable hair ORPHA:1264
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands
Aplasia of the sweat glands, Abnormality of the dentition OMIM:206600
Naegeli-Franceschetti-Jadassohn Syndrome
Dystrophic fingernails, Abnormal dental enamel morphology, Dystrophic toenail ORPHA:69087
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Thick eyebrow, Gingival overgrowth, Gene... ORPHA:2222
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Hypotrichosis 5
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes OMIM:612841
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Cerebellofaciodental Syndrome
Sparse hair, Taurodontia, Macrodontia of permanent maxillary central incisor, Sparse and thin eye... OMIM:616202
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Aredyld
Mandibular prognathia, Generalized hypotrichosis OMIM:207780
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Sparse hair, Alopecia, Dystrophic toenail OMIM:614928
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Ectodermal Dysplasia 9, Hair/Nail Type
Atrichia, Sparse hair, Absent eyelashes, Nail dysplasia, Concave nail, Absent hair, Nail dystrophy OMIM:614931
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Shovel-shaped maxillary central incisors, Increased overbite, Dental crowding OMIM:600907
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormality of the nail, Hypoplastic toenails, Agenesis of permanent t... ORPHA:2228
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth, Alopecia OMIM:614564
Pili Torti
Abnormal dental enamel morphology, Abnormal eyebrow morphology, Abnormality of the nail, Abnormal... ORPHA:2889
Oculotrichodysplasia
Trichodysplasia, Carious teeth, Generalized hypotrichosis, Agenesis of permanent teeth, Sparse ax... OMIM:257960
Alopecia Universalis
Absent eyelashes, Patchy alopecia, Alopecia universalis, Absent eyebrow ORPHA:701
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Cataract 7
Developmental cataract OMIM:115660
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Cataract 41
Developmental cataract, Nuclear cataract OMIM:116400
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse hair, Abnormality of dental morphology, Abnormal eyelash morphology, Hypodontia, Aplasia/H... ORPHA:1818
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Hypoplasia of teeth, Abnormal hair morphology, Abnormality of dental morphology, Pr... ORPHA:248
Anonychia With Flexural Pigmentation
Alopecia of scalp, Carious teeth, Abnormal hair morphology ORPHA:69125
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Hypoplastic sweat glands, Natal tooth, Nail dystrophy OMIM:617337
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Trichodental Dysplasia
Sparse hair, Odontodysplasia, Slow-growing hair, Hypodontia, Brittle hair, Conical tooth, Fine hair OMIM:601453
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology ORPHA:1653
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type
Agenesis of permanent teeth, Aplasia/Hypoplasia of the eyebrow, Abnormality of dental morphology,... OMIM:602401
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Periodontitis, Abnormality of the dentition, Sparse scalp hair, Alop... ORPHA:1008
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... ORPHA:1193
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Ectodermal Dysplasia And Immunodeficiency 2
Conical tooth, Aplasia of the sweat glands, Sparse hair, Hypodontia OMIM:612132
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Supernumerary tooth, Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone ORPHA:3145
Alopecia Areata 1
Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis, Patchy alopecia OMIM:104000
Tooth Agenesis, Selective, 4
Sparse eyebrow, Sparse hair, Short eyelashes, Tooth agenesis, Peg-shaped maxillary lateral incisors OMIM:150400
Monilethrix
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... ORPHA:573
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Oligodontia, Supernumerary tooth, Pili canaliculi, Microdontia, Uncombable hair OMIM:191482
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse hair, Abnormality of dental morphology, Slow-growing hair, Nail dysplasia, Anodontia, Hypo... OMIM:129490
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Carious teeth, Oral mucosal blisters, Nail dystrophy, Hypodontia OMIM:226650
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Cataract, Sparse lateral eyebrow, Brittle hair, Abno... ORPHA:170
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Oligodontia, Conical mandibular incisor, Discolored lateral incisors OMIM:601668
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Pallister W Syndrome
Agenesis of central incisor, Agenesis of maxillary central incisor, Broad uvula, Frontal upsweep ... OMIM:311450
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth OMIM:616108
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Hirsutism, Abnormality of the dentition, Synoph... ORPHA:2026
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters, Nail dystrophy ORPHA:79406
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Abnormality of the nail, Abnormal hair morphology, Absent eyebrow, Sparse axillary hair, Sparse s... ORPHA:1808
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Galactosemia Iv
Cataract OMIM:618881
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Carious teeth, Sparse hair, Alopecia OMIM:616353
Aniridia 2
Cataract, Aniridia OMIM:617141
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Microdontia, Sparse hair, Hypodontia ORPHA:1174
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Liang-Wang Syndrome
Macroglossia, Downturned corners of mouth, Everted lower lip vermilion, Diastema, Wide mouth, Syn... OMIM:618729
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Sparse hair, Abnormality of the dentition OMIM:129810
Cataract 43
Subcapsular cataract OMIM:616279
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Eem Syndrome
Carious teeth, Abnormality of dental morphology, Absent eyebrow, Sparse scalp hair, Selective too... ORPHA:1897
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Sparse hair, Taurodontia, Everted lower lip vermilion, Abnorma... ORPHA:1515
W Syndrome
Agenesis of maxillary central incisor, Abnormality of the scalp hair, Upper lip pit, Broad uvula,... ORPHA:2804
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Everted lower lip vermilion, Thick vermilion border, Persistence of primar... OMIM:228560
Thumb Deformity And Alopecia
Solitary median maxillary central incisor, Alopecia OMIM:188150
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Everted lower... ORPHA:2025
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails OMIM:617294
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Tooth malposition, Abnormality of dental morphology ORPHA:85274
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Trichodysplasia-Xeroderma
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Congenital onychodystrophy, Absent eyebrow, Brittle hair, Alopecia... OMIM:602032
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails, Abnormality of the dentition ORPHA:500166
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormality of dental morphology, Abnormality of the dentition, Thick vermilion bord... ORPHA:1810
Laryngoonychocutaneous Syndrome
Amelogenesis imperfecta OMIM:245660
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Brooke-Spiegler Syndrome
Salivary gland neoplasm, Cylindroma, Nodular changes affecting the eyelids, Abnormality of the su... ORPHA:79493
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Everted lower lip vermilion, Sparse hair OMIM:278200
Cataract 47
Cataract, Microcornea OMIM:612018
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters, Nail dystrophy ORPHA:79405
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Rapp-Hodgkin Syndrome
Decreased number of sweat glands, Small nail, Sparse hair, Narrow mouth, Small, conical teeth, Hy... OMIM:129400
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Sparse hair, Sparse and thin eyebrow, Brittle hair, Alopecia, Dystrophic toenail, Dy... OMIM:614929
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, Sparse hair ORPHA:2266
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Parc Syndrome
Absent eyelashes, Microretrognathia, Absent eyebrow, Alopecia, Cleft palate OMIM:600331
Fetal Encasement Syndrome
Protruding tongue, Aplasia of the sweat glands, Mandibular aplasia OMIM:613630
Nance-Horan Syndrome
Mulberry molar, Diastema, Supernumerary maxillary incisor, Screwdriver-shaped incisors OMIM:302350
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Long philtrum, Sparse hair, Widow's peak, Thin upper lip vermilion, Thick eyebrow OMIM:606242
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Smooth philtrum, Thin up... OMIM:129540
Schopf-Schulz-Passarge Syndrome
Small nail, Sparse hair, Poroma, Onycholysis, Ridged nail, Hypodontia, Apocrine hidrocystoma, Thi... OMIM:224750
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Sparse scal... OMIM:613573
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Hypodontia, Nail dysplasia, Anodontia, Cleft palate, Sparse and thin... OMIM:225060
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Pierre Robin Syndrome
Pierre-Robin sequence, Micrognathia, Glossoptosis, Cleft palate OMIM:261800
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor, Aplasia of the eccrine sweat glands, Sparse hair OMIM:300291
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Narrow mouth, Incisor macrodontia, Long eyelashes, Cleft pa... OMIM:615502
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Horner syndrome, Blepharophimosis, Poliosis, Patchy alopecia, Short ma... OMIM:141300
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Agenesis of central incisor, Abnormality of canine, Pierre-Robin sequence, Everted l... ORPHA:364577
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Hyperconvex nail, Glossoptosis, Cleft palate, Micrognathia OMIM:311895
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Sparse hair, Anodontia, Nail dysplasia, Supernumerary nipple, Nail dystrophy OMIM:275450
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Intellectual Disability, Birk-Barel Type
Highly arched eyebrow, Short philtrum, Open mouth, High, narrow palate, Incisor macrodontia, Thic... ORPHA:166108
Rosselli-Gulienetti Syndrome
Abnormality of the philtrum, Hypodontia, Nail dysplasia, Anodontia, Sparse and thin eyebrow, Clef... OMIM:225000
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Sparse axillary hair, Coarse hair, Fair hair, Spar... OMIM:278150
Mohr Syndrome
Accessory oral frenulum, Agenesis of central incisor, Tongue nodules, Bifid tongue, Lobulated ton... OMIM:252100
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Exaggerated median tongue furrow, Thick lower lip vermilio... OMIM:300602
Chand Syndrome
Commissural lip pit, Agenesis of permanent teeth, Curly hair, Agenesis of maxillary incisor, Bifi... ORPHA:1401
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Coarse hair, Sparse and thin eyebrow, Brittle hair, Sparse eyelashes OMIM:234030
Hypohidrosis With Abnormal Palmar Dermal Ridges
Decreased number of sweat glands OMIM:241120
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Palmoplantar Keratoderma And Woolly Hair
Leukonychia, Sparse scalp hair, Sparse and thin eyebrow, Sparse body hair, Woolly hair, Woolly sc... OMIM:616099
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Sparse hair, Abnormality of dental morphology, Everted lower lip ve... ORPHA:2251
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Frontal open bite, Recurrent mandibular subluxations, Gingival hyperkeratosis, Hirsutism, Everted... OMIM:225410
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Temtamy Preaxial Brachydactyly Syndrome
Highly arched eyebrow, Talon cusp, Deep philtrum, Diastema, Synophrys, Cleft palate, Microdontia OMIM:605282
Amelo-Onycho-Hypohidrotic Syndrome
Hypohidrosis, Delayed eruption of teeth, Hypoplastic toenails, Onycholysis, Abnormal dental ename... ORPHA:1028
Isolated Pierre Robin Syndrome
Micrognathia, Glossoptosis, Cleft palate ORPHA:718
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Sparse hair, Everted lower lip vermilion, Aplasia/Hypoplasia of the ey... ORPHA:181
Cataract 42
Developmental cataract OMIM:115900
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Thoracic hypertrichosis, Anterior cervical hypertrichosis, Lumbar hypertri... OMIM:117850
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Sparse hair, Absent eyelashes, Taurodontia, Hypoplasia of the maxilla, Everted low... OMIM:305100
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Oral mucosal blisters, Nail dystrophy ORPHA:79411
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta, Leukonychia OMIM:234580
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Hypoplastic toenails, Sparse eyebrow, Sparse hair, Abnormality of the dentition, Micrognathia, Sp... OMIM:616901
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Corneal ... ORPHA:1067
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Exaggerated median tongue furrow, Thick lower lip vermilio... OMIM:300431
Hypotrichosis 12
Sparse hair, Dry hair, Slow-growing hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the e... OMIM:615885
Proximal Myotonic Myopathy
Cataract ORPHA:606
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Anonychia, Scarring alopecia of scalp, Oral mucosal blisters, Sparse body hair... ORPHA:79402
Dermoodontodysplasia
Trichodysplasia, Mandibular prognathia, Fingernail dysplasia, Tooth agenesis, Sparse scalp hair, ... ORPHA:1660
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Sparse hair, Absent eyelashes, Downturned corners of mouth, Thick upper li... ORPHA:79133
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Monilethrix
Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy OMIM:158000
Rothmund-Thomson Syndrome, Type 1
Sparse hair, Absent eyelashes, Absent eyebrow, Thin nail, Conical tooth, Nail dystrophy OMIM:618625
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Hirsutism, Long eyelashes, Retrognathia, Increased overbite, High p... OMIM:613684
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Alopecia Antibody Deficiency
Abnormality of dental color, Sparse hair, Abnormal eyelash morphology, Aplasia/Hypoplasia of the ... ORPHA:1006
Cataract-Deafness-Hypogonadism Syndrome
Generalized hypertrichosis, Developmental cataract ORPHA:1383
Orofaciodigital Syndrome Type 2
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Thick ... ORPHA:2751
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Shovel-shaped maxillary central incisors, Sparse and thin eyebrow, Open mouth, Dental crowding OMIM:600906
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Sparse scalp hair, Sparse and thin eyebrow, Selective tooth agenesis, Microdontia, Widely spaced ... OMIM:225280
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Hypopigmentation of hair, Short philtrum, Taurodontia, High, narrow pa... ORPHA:3214
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormality of the mandible, Cleft palate OMIM:217150
Oliver-Mcfarlane Syndrome
Cryptorchidism, Central heterochromia, Sparse hair, Long eyelashes, Alopecia, Long eyebrows, Decr... OMIM:275400
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Marie Unna Hereditary Hypotrichosis
Coarse hair, Sparse scalp hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of the e... ORPHA:444
Galactosemia Ii
Cataract OMIM:230200
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormal dental enamel morphology, Abnormal eyebrow morphology, Abnormal hair quantity, Taurodont... ORPHA:3220
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Crandall Syndrome
Abnormal testis morphology, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse bod... ORPHA:202
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair OMIM:194300
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Sparse hair, Thick upper lip vermilion, Absent lower eyelashes, Distichiasis OMIM:227260
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Non-... ORPHA:2919
Acrofacial Dysostosis, Palagonia Type
Low anterior hairline, Oligodontia, Sparse hair, Unilateral cleft lip, Sparse lateral eyebrow, Su... ORPHA:1787
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair OMIM:617252
Brachycephaly, Trichomegaly, And Developmental Delay
Highly arched eyebrow, Thin vermilion border, Open mouth, Long eyelashes, Synophrys, Thick eyebro... OMIM:617412
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Epidermolysis Bullosa, Junctional, Herlitz Type
Enamel hypoplasia, Carious teeth, Nail dystrophy OMIM:226700
Filippi Syndrome
Thin vermilion border, Short philtrum, Sparse hair, Abnormality of dental morphology, Hypodontia,... OMIM:272440
Dermoids Of Cornea
Corneal opacity OMIM:304730
Pyle Disease
Delayed eruption of teeth, Carious teeth, Mandibular prognathia, Hypoplastic frontal sinuses, Abs... OMIM:265900
X-Linked Retinoschisis
Cataract ORPHA:792
Hypotrichosis 6
Sparse hair, Sparse and thin eyebrow, Brittle hair, Pili torti, Sparse eyelashes OMIM:607903
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Bloom Syndrome
Agenesis of maxillary lateral incisor, Hypertrichosis, Malar flattening OMIM:210900
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Hypodontia, Premature loss of primary teeth, Alopecia, Aplasia/Hypoplasia of the eye... ORPHA:50944
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Conical tooth, Nail dystrophy, Selective tooth agenesis OMIM:124480
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology, Sparse and thin eyeb... ORPHA:139474
Variant Abeta2M Amyloidosis
Abnormality of the tongue, Intestinal perforation, Abnormal salivary gland morphology ORPHA:314652
Nance-Horan Syndrome
Mandibular prognathia, Abnormality of the dentition, Supernumerary tooth ORPHA:627
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Tooth agenesis, Sparse scalp hair, S... ORPHA:3353
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair OMIM:618808
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Hypertrichosis-Acromegaloid Facial Appearance Syndrome
Blepharophimosis, Palpebral edema, Everted lower lip vermilion, Thick vermilion border, Furrowed ... ORPHA:966
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Pulp calcification, Taurodontia OMIM:211900
Coffin-Siris Syndrome 3
Macroglossia, Sparse hair, Hirsutism, Long eyelashes, Wide mouth, Sparse scalp hair, Thick eyebro... OMIM:614608
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Hidrotic Ectodermal Dysplasia, Halal Type
Trichodysplasia, Absent eyelashes, Absent eyebrow, Nail dysplasia, Sparse scalp hair, Sparse body... ORPHA:1809
Odontomicronychial Dysplasia
Abnormality of the nail, Abnormality of the dentition, Premature loss of primary teeth, Thin nail... ORPHA:1811
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion, Sparse hair OMIM:613576
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Carious teeth, Alopecia, Hypodontia OMIM:612079
Pili Torti, Early-Onset
Enamel hypoplasia, Dry hair, Hair shafts flattened at irregular intervals and twisted through 180... OMIM:261900
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Nail dysplasia, Abnormality of hair t... OMIM:601957
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... OMIM:257850
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Eruption failure, Alveo... OMIM:273050
Immunodeficiency 33
Conical tooth, Delayed eruption of teeth, Hypodontia OMIM:300636
Acrofacial Dysostosis, Catania Type
Widow's peak, Carious teeth OMIM:101805
Pycnodysostosis
Delayed eruption of primary teeth, Carious teeth, Narrow palate, Absent frontal sinuses, Persiste... OMIM:265800
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse hair, Curly hair, Corneal opacity, Sparse and thin eyebrow, Brittle hair, Blepharitis, Pil... OMIM:602400
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Anodontia, Supernumerary tooth, High palate, Dental mal... OMIM:264475
Trichorhinophalangeal Syndrome, Type Iii
Long philtrum, Sparse hair, Dental crowding, Smooth philtrum, Thin upper lip vermilion, Sparse la... OMIM:190351
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormality of dental color, Dental enamel pits, Scarring alopecia of scalp, S... ORPHA:251393
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid tongue, Supernumerary tooth, Bifid uvula, Microdontia OMIM:258850
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Naxos Disease
Curly hair, Sparse scalp hair, Hyperhidrosis, Cleft upper lip, Abnormality of hair texture, Wooll... ORPHA:34217
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hirsutism, Epicanthus ORPHA:85288
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Carious teeth, Alopecia OMIM:203550
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Oligodontia, Abnormal dental enamel morphology, Scarring alopecia of scalp, Hypodontia, Sparse sc... ORPHA:59303
Choroidal Atrophy-Alopecia Syndrome
Sparse hair, Ungual fibroma, Sparse or absent eyelashes, Abnormal toenail morphology, Supernumera... ORPHA:1433
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Hypertrichosis, Microdontia, Widely ... OMIM:601216
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Nail dystrophy, Hypodontia OMIM:616029
Auriculocondylar Syndrome 2
Short mandibular rami, Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, G... OMIM:614669
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Carious teeth, Sparse lateral eyebrow, Thick vermilion border ORPHA:363523
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Dens in dente, Mandibular prognathia, Hypodontia, Bifid uvula, Low posterior h... OMIM:263540
Holoprosencephaly 9
Hypoplasia of the premaxilla, Short philtrum, Agenesis of incisor, Bilateral cleft lip and palate... OMIM:610829
Cataract 30, Multiple Types
Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract OMIM:116300
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Bazex-Dupré-Christol Syndrome
Sparse hair, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Sparse or absent eyelashes,... ORPHA:113
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:10
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Taurodontia, Smooth philtrum, High palate, Dental maloc... OMIM:157980
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Abnormality of the dentition, Abnormal palate morphology ORPHA:3270
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Talon cusp, Tooth malposition, Narrow mouth, Abnormality of canine, Abnormality of t... ORPHA:363417
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Clouston Syndrome
Small nail, Onycholysis, Absent pubic hair, Absent axillary hair, Abnormality of the dentition, S... OMIM:129500
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Blepharo-Cheilo-Odontic Syndrome
Carious teeth, Abnormal hair quantity, Bilateral cleft lip and palate, Distichiasis, Conical tooth ORPHA:1997
Blepharocheilodontic Syndrome 1
Small nail, Sparse hair, High anterior hairline, Hypodontia, Distichiasis, Cleft upper lip, Conic... OMIM:119580
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Metaphyseal Chondrodysplasia, Spahr Type
Carious teeth, Abnormality of the dentition ORPHA:2501
Pachyonychia Congenita 2
Palmoplantar hyperhidrosis, Dry hair, Natal tooth, Sparse scalp hair, Nail dysplasia, Subungual h... OMIM:167210
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Isolated Cleft Lip
Macrodontia, Non-midline cleft lip, Hypodontia, Supernumerary maxillary incisor, Velopharyngeal i... ORPHA:199302
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hypodontia ORPHA:63442
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Abnormality of the nail, Abnormality of the mouth, Everted lower lip v... ORPHA:181393
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse hair, Abnormality of dental morphology, Everted lower lip vermilion, Thick vermilion borde... OMIM:224900
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Supernumerary tooth, Hypoplasia of the maxilla OMIM:614188
Trichorhinophalangeal Syndrome Type 1 And 3
Long philtrum, Sparse hair, Long upper lip, Leukonychia, Abnormality of the dentition, Sparse and... ORPHA:77258
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Long eyelashes, Wide mouth, Facial hypertrichosis, Generaliz... ORPHA:3473
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Short philtrum, Hypoplastic toenails, Abnormal dental enamel morpholog... ORPHA:2325
Olmsted Syndrome 1
Sparse hair, Corneal opacity, Nail dysplasia, Subungual hyperkeratosis, Opacification of the corn... OMIM:614594
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Brittle hair, Sparse hair, Carious teeth ORPHA:1883
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, High palate, Fine hair OMIM:615278
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:613763
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Generalized hirsutism, Delayed eruption of teeth, Abnormal eyebrow morphology, Hypodontia ORPHA:1816
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Flynn-Aird Syndrome
Alopecia of scalp, Carious teeth, Alopecia OMIM:136300
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse hair, Leukonychia, Angular cheilitis, Sparse axillary hair, Sparse scalp h... OMIM:613102
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Ectodermal Dysplasia, Trichoodontoonychial Type
Absent nipple, Sparse hair, Hypodontia OMIM:129510
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Trisomy 4P
Low anterior hairline, Carious teeth, Abnormal palate morphology, Smooth philtrum, Abnormality of... ORPHA:1738
Lelis Syndrome
Carious teeth, Yellow nails, Abnormality of the mouth, Sparse hair, Mandibular prognathia, Hypodo... ORPHA:140936
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Hidrotic Ectodermal Dysplasia
Onycholysis, Sparse hair, Hyperconvex nail, Sparse axillary hair, Abnormality of nail color, Spar... ORPHA:189
Ameloonychohypohidrotic Syndrome
Abnormal dental enamel morphology, Marked delay in eruption of permanent teeth, Abnormal hair mor... OMIM:104570
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Sparse hair, Hypoplasia of teeth, Nail dysplasia, Concave nail, Retrognathia, Brittle... OMIM:234050
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome