Gene Summary

excision repair cross-complementing rodent repair deficiency, complementation group 2
XPD,  Mhdarco15,  Ercc-2,  RCO015

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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
decreased circulating glycerol level Ercc2tm1a(EUCOMM)Wtsi HET Early adult 7.30×10-05

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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.

Phenotype associated images not available

Human diseases caused by Ercc2 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 predicted to be associated to Ercc2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Uncombable Hair Syndrome 2
Juvenile cataract, Pili canaliculi, Uncombable hair OMIM:617251
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... ORPHA:3361
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... OMIM:602032
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair OMIM:158000
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Cataract 44
Developmental cataract OMIM:616509
Hair Defect With Photosensitivity And Mental Retardation
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair OMIM:234030
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... OMIM:614929
Pili Torti
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... ORPHA:2889
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Hypotrichosis 13
Sparse and thin eyebrow, Sparse hair, Woolly hair OMIM:615896
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Dwarfism, Familial, With Muscle Spasms
Fine hair, Short stature, Severe short stature, Brittle scalp hair, Sparse scalp hair OMIM:600771
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Microcornea OMIM:610202
Hidrotic Ectodermal Dysplasia
Sparse eyelashes, Palmoplantar keratoderma, Sparse pubic hair, Sparse hair, Palmoplantar hyperker... ORPHA:189
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... ORPHA:573
Microphthalmia, Isolated, With Coloboma 4
Coloboma, Microcornea, Microphthalmia OMIM:251505
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Cataract OMIM:300719
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Crandall Syndrome
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:202
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract OMIM:604307
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Bazex Syndrome
Acanthosis nigricans, Liposarcoma, Lung adenocarcinoma, Yellow nails, Nail dystrophy, Palmoplanta... ORPHA:166113
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Aniridia 3
Cataract OMIM:617142
Witkop Syndrome
Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits OMIM:189500
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Hypotrichosis 7
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair OMIM:604379
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair OMIM:211390
Hypotrichosis 6
Sparse eyelashes, Brittle hair, Pili torti, Sparse and thin eyebrow, Sparse hair OMIM:607903
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, M... ORPHA:83461
Dwarfism, Mental Retardation, And Eye Abnormality
Nuclear cataract, Hypoplasia of the iris OMIM:223540
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:261900
Erythrokeratodermia Variabilis
Neoplasm of the skin, Patchy palmoplantar hyperkeratosis, Cutaneous photosensitivity, Short statu... ORPHA:317
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Cataract 7
Developmental cataract OMIM:115660
Cataract 9, Multiple Types
Developmental cataract, Microphthalmia, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Brittle hair, Short stature, Coarse hair OMIM:616390
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Microphthalmia, Sclerocornea, Congenital aphakia, Aniridia, Pete... OMIM:610256
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation OMIM:157150
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Growth delay, Abnormality of hair texture, Pili torti, Sparse or absent eyelashes, Aplasia/Hypopl... ORPHA:2891
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Long eyelashes, Cataract OMIM:190330
Cataract 11, Multiple Types
Microphthalmia, Cataract OMIM:610623
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Peeling Skin Syndrome 1
Brittle hair, Short stature, Onycholysis, Abnormality of hair texture OMIM:270300
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Microphthalmia, Chorioretinal coloboma, Anophthalmia, Iris coloboma OMIM:616428
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Acquired Ichthyosis
Multiple myeloma, Pruritus, Erythema, Palmoplantar keratoderma, Neoplasm, Lymphoma, Sarcoma, Recu... ORPHA:454
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Pili Torti-Onychodysplasia Syndrome
Keloids, Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Palmoplantar k... ORPHA:2890
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Clouston Syndrome
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Short stature, Absent pubic hair, Brittle h... OMIM:129500
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Short stature, Brittle hair, Pili torti, Sparse scalp hair ORPHA:1573
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Hypotrichosis 1
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... OMIM:605389
Palmoplantar Keratoderma And Congenital Alopecia 1
Epidermal hyperkeratosis, Brittle hair, Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Palmo... OMIM:104100
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea OMIM:251750
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Xeroderma Pigmentosum, Complementation Group F
Neoplasm of the skin, Dementia, Cutaneous photosensitivity, Short stature, Tremor, Defective DNA ... OMIM:278760
Microspherophakia-Metaphyseal Dysplasia
Lens coloboma, Microspherophakia, Lens subluxation OMIM:157151
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Woolly Hair, Autosomal Recessive 3
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair OMIM:616760
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Dry skin, Alopecia of scalp, Cutis laxa, Generalized hyperkeratosis,... ORPHA:2269
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Lens subluxation ORPHA:171844
Moynahan Syndrome
Cachexia, Short stature, Alopecia, Hypogonadism, Hyperkeratosis, Sparse hair ORPHA:2574
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp OMIM:610753
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Retinal Dystrophy With Or Without Macular Staphyloma
Nuclear cataract OMIM:617547
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract-Deafness-Hypogonadism Syndrome
Hypogonadism, Developmental cataract, Generalized hypertrichosis ORPHA:1383
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Short stature, Brittle hair, Coarse hair, Kyphosis, Camptodactyly of finger, Hyperkeratosis, Spar... ORPHA:1883
Progeroid Syndrome, Petty Type
Shagreen patch, Long eyelashes in irregular rows, Abnormal hair morphology, Cutis laxa, Short sta... ORPHA:2963
Genetic Hyperferritinemia Without Iron Overload
Fragile nails, Cataract ORPHA:254704
Trichohepatoenteric Syndrome 2
Intrauterine growth retardation, Brittle hair, Trichorrhexis nodosa, Uncombable hair, Woolly hair... OMIM:614602
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Flynn-Aird Syndrome
Increased bone density with cystic changes, Alopecia of scalp, Kyphoscoliosis, Osteoporosis, Alop... OMIM:136300
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Keratoderma Hereditarium Mutilans With Ichthyosis
Nail dystrophy, Alopecia, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Congenital no... ORPHA:79395
Pilodental Dysplasia With Refractive Errors
Sparse scalp hair, Brittle hair, Brittle scalp hair, Abnormality of the nail OMIM:262020
Parana Hard Skin Syndrome
Growth delay, Generalized hyperpigmentation, Short stature, Restricted chest movement, Thickened ... ORPHA:2812
Sparse eyelashes, Dry skin, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, General... OMIM:257960
Rothmund-Thomson Syndrome, Type 1
Short stature, Thin nail, Nail dystrophy, Osteoporosis, Absent eyebrow, Absent eyelashes, Male hy... OMIM:618625
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Xeroderma Pigmentosum, Complementation Group G
Cutaneous photosensitivity, Growth delay, Tremor, Defective DNA repair after ultraviolet radiatio... OMIM:278780
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Dry skin, Small for gestational age, Short stature, Brittle hair, Ichthyosis,... OMIM:616943
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse and thin eyebrow, Alopecia, Palmoplantar keratoderma, Hypoplastic toenails, Abnormal finge... ORPHA:2722
Hypotrichosis Simplex Of The Scalp
Fine hair, Alopecia of scalp, Slow-growing scalp hair, Parakeratosis, Hyperkeratosis, Scaling ski... ORPHA:90368
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse scalp hair, Sparse pubic hair, Perifollicular hyperkeratosis, Sparse axillary hair ORPHA:505
Trichothiodystrophy 1, Photosensitive
Fine hair, Tiger tail banding, Small nail, Small for gestational age, Short stature, Freckling, A... OMIM:601675
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Nathalie Syndrome
Cataract ORPHA:2663
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Microphthalmia, Cataract OMIM:120433
Cataract-Hypertrichosis-Intellectual Disability Syndrome
Low posterior hairline, Developmental cataract, Generalized hirsutism ORPHA:1375
Bathing Suit Ichthyosis
Nail dystrophy, Alopecia, Thickened skin, Parakeratosis, Congenital nonbullous ichthyosiform eryt... ORPHA:100976
Uncombable Hair Syndrome 3
Curly hair, Pili canaliculi, Uncombable hair OMIM:617252
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Alopecia of scalp, Abnormal hair morph... ORPHA:69125
Spastic Paraparesis And Deafness
Hypogonadism, Cataract OMIM:312910
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Microcornea, Microphthalmia, Cataract ORPHA:2528
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Microphthalmia ORPHA:2432
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Curly hair, Pili torti, Sparse and thin eyebrow, Sparse hair OMIM:602400
Insulin-Resistance Syndrome Type A
Delayed puberty, Generalized hirsutism, Generalized hyperpigmentation, Hyperkeratosis ORPHA:2297
Trichothiodystrophy 3, Photosensitive
Tiger tail banding, Brittle hair, Short stature OMIM:616395
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Microphthalmia, Anophthalmia, Iris coloboma, Bilateral microphthalmos OMIM:611638
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Neoplasm of the skin, Defective DNA repair after ultraviolet radiation damage, Erythema OMIM:194400
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Axenfeld anomaly OMIM:609218
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Cronkhite-Canada Syndrome
Cachexia, Stomach cancer, Dystrophic fingernails, Dystrophic toenail, Patchy alopecia, Gastrointe... ORPHA:2930
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Osteoporosis, Platyspondyly, Albinism, Kyphosis, Hypopigmentation of the skin, Pal... ORPHA:2786
Acrokeratosis Verruciformis
Ridged nail, Acrokeratosis, Hyperkeratosis, Epidermal acanthosis OMIM:101900
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:614819
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism, Cataract OMIM:254000
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Abnormal hair morphology, Abnormality of skin pigmentation, Weight loss, Lipodystrophy,... ORPHA:1979
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Microphthalmia, Cataract, Iris coloboma OMIM:212550
Woolly Hair, Autosomal Dominant
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair OMIM:194300
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Severe postnatal growth retardation, Short stature, Anterior rib punctate calci... ORPHA:35173
Galactosemia Iv
Cataract OMIM:618881
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Peters anomaly, Iris coloboma, Coloboma, Ocular anterior segment dysgenesis OMIM:610023
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Dry skin, Palmoplantar scaling skin, Erythema, Scaling skin, Nonepidermolytic palmoplantar hyperk... ORPHA:530838
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Progressive hypotrichosis, Sparse eyelashes, Brittle hair, Abnormality of hair texture, Nail dysp... OMIM:225060
Classic Mycosis Fungoides
Hypopigmented skin patches, Neoplasm of the skin, Hepatomegaly, Lymphadenopathy, Alopecia, Abnorm... ORPHA:2584
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Abnormal eyebrow morphology, Cataract, Iris hypop... ORPHA:85194
Netherton Syndrome
Failure to thrive, Brittle hair, Sparse scalp hair, Parakeratosis, Congenital nonbullous ichthyos... OMIM:256500
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Congenital Microcoria
Nuclear cataract, Developmental cataract, Corneal stromal edema, Iris transillumination defect, H... ORPHA:566
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Microphthalmia, Chorioretinal coloboma, Posterior embryotoxon,... OMIM:612109
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Microphthalmia, Isolated, With Coloboma 7
Coloboma, Microphthalmia OMIM:614497
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Alopecia, Intrauterine growth retardation, Short stature ORPHA:50812
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Cerulean cataract OMIM:616732
Neutropenia, Brittle hair, Fragile nails, Increased bone mineral density, Ichthyosis, Abnormal py... ORPHA:33364
Cataract 42
Developmental cataract OMIM:115900
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Biconcave vertebral bodies, Failure to thrive, Kyphoscoliosis, Osteoporosis, Brittle hair, Homocy... OMIM:236200
Galactokinase Deficiency
Nuclear cataract, Cataract, Premature ovarian insufficiency, Hypergonadotropic hypogonadism ORPHA:79237
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Verrucous Hemangioma
Hemangioma, Epidermal acanthosis, Hyperkeratotic papule, Papilloma ORPHA:464318
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Atrophoderma Vermiculata
Hyperkeratotic papule, Pruritus, Erythema, Follicular hyperkeratosis, Neurofibromas ORPHA:79100
Dermatitis, Atopic
Atopic dermatitis, Eczema, Pruritus, Recurrent skin infections, Cataract, Facial erythema, Dry sk... OMIM:603165
Angioma Serpiginosum, X-Linked
Fine hair, Nail dystrophy, Sparse hair OMIM:300652
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Autosomal Dominant Keratitis
Microcornea, Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic ir... ORPHA:2334
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Alopecia totalis, Hyperkeratosis, Sclerodactyly, Nail dysplasia, Facial erythema,... OMIM:212360
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:444
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Diffuse palmoplantar... OMIM:617294
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Palmoplantar Keratoderma And Woolly Hair
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... OMIM:616099
Trichothiodystrophy 4, Nonphotosensitive
Sparse eyelashes, Small nail, Growth delay, Brittle hair, Trichorrhexis nodosa, Abnormality of ha... OMIM:234050
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Stria... ORPHA:64745
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Kyphoscoliosis, Alopecia, Reduced subcutaneous adipose tissue, Hyperpigmentation of the skin, Mel... OMIM:612079
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Alopecia, Woolly scalp hair, Woolly hair OMIM:601217
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Sparse hair, Microphthalmia, Cataract OMIM:610756
Cutis Laxa, Autosomal Recessive, Type Iia
Cutis laxa, Intrauterine growth retardation, Failure to thrive, Brittle hair, Lipodystrophy, Coar... OMIM:219200
Alopecia Areata 1
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Anterior Segment Dysgenesis 5
Developmental cataract, Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Hypoplasi... OMIM:604229
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Erythema, Diffuse palmoplantar hyperkeratosis, Skin ulcer ORPHA:2337
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Catarac... ORPHA:1067
Hypotrichosis 5
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair OMIM:612841
Osteopenia And Sparse Hair
Joint laxity, Sparse hair, Osteopenia OMIM:259690
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Proteus Syndrome
Mandibular hyperostosis, Spinal canal stenosis, Epidermal acanthosis, Thin bony cortex, Depigment... OMIM:176920
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Congenital alopecia totalis, T lymphocytopenia, Nail pits ORPHA:169095
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Remnants of the hyal... ORPHA:231736
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Abnormal fingernail morphology, Cataract, Premature ovarian insufficiency ORPHA:2278
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Developmental cataract, Microphthalmia, Ocular anterior segment dysgenesis ORPHA:324416
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Erythema, Hyperkeratosis, Scaling skin OMIM:617571
Galactosemia Ii
Cataract OMIM:230200
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Dystrophic toenail, Failure to thrive, Absent toenail, Atrophic scars, Ridged nail, Hyperpigmenta... ORPHA:89838
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Cataract OMIM:608763
Peeling Skin Syndrome 4
Nail dystrophy, Palmoplantar keratoderma, Orthokeratosis, Ichthyosis, Hyperkeratosis, Scaling ski... OMIM:607936
Trichothiodystrophy 5, Nonphotosensitive
Tiger tail banding, Intrauterine growth retardation, Short stature, Brittle hair, Slow-growing ha... OMIM:300953
Cerebellar Ataxia And Ectodermal Dysplasia
Ataxia, Alopecia, Sparse hair OMIM:212835
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair, Growth delay OMIM:246500
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis OMIM:600333
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Microphthalmia, Cataract, Retinal coloboma OMIM:601794
Aredyld Syndrome
Hepatomegaly, Cachexia, Intrauterine growth retardation, Short stature, Abnormal dental enamel mo... ORPHA:1133
Nance-Horan Syndrome
Posterior Y-sutural cataract, Microcornea, Microphthalmia, Developmental cataract OMIM:302350
Werner Syndrome
Ovarian neoplasm, Secondary amenorrhea, Thyroid carcinoma, Meningioma, Short stature, Acral lenti... ORPHA:902
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Ca... ORPHA:1473
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis, Small nail, Abnormal hair morphology, Growth delay, Thin nail, Erythema, Alopecia, Pal... OMIM:242100
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cutaneous Collagenous Vasculopathy
Diffuse telangiectasia, Petechiae, Vascular skin abnormality, Pruritus, Erythema, Prominent super... ORPHA:280779
Cole Disease
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis, Epidermal acanthosis OMIM:615522
Retinitis Pigmentosa 56
Nuclear cataract, Posterior subcapsular cataract OMIM:613581
Idiopathic Localized Lipodystrophy
Absence of subcutaneous fat, Erythema, Reduced subcutaneous adipose tissue, Morphea, Lipoatrophy,... ORPHA:90158
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Posterior synechiae of the anterior chamber ORPHA:280914
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Microphthalmia, Cataract, Retinal coloboma ORPHA:363741
Alpha-Heavy Chain Disease
Hepatomegaly, Growth delay, Ascites, Lymphadenopathy, Alopecia, Anemia, Lymphoma, Splenomegaly, P... ORPHA:100025
Oliver-Mcfarlane Syndrome
Small for gestational age, Hypogonadotropic hypogonadism, Alopecia, Long eyelashes, Severe short ... OMIM:275400
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
B lymphocytopenia, Failure to thrive in infancy, Psoriasiform dermatitis, Patchy alopecia, Lympha... OMIM:606367
Maculopapular Cutaneous Mastocytosis
Pruritus, Erythema, Dermatographic urticaria, Generalized abnormality of skin, Darier's sign, Irr... ORPHA:79457
Cardiofaciocutaneous Syndrome
Generalized hyperpigmentation, Short stature, Brittle hair, Palmoplantar keratoderma, Ichthyosis,... ORPHA:1340
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Short stature, Anemia, Abnormal hemoglobin ORPHA:3319
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in muscle tissue, Ectopic ossification in ligament tissue, Failure to thrive... ORPHA:337
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcornea, Microphthalmia, Cataract OMIM:616171
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Intrauterine growth retardation, Short stature, Nail dystrophy, Brittle hair, Alopecia, Coarse hair ORPHA:75389
Jessner Lymphocytic Infiltration Of The Skin
Pruritus, Erythema, Cutaneous photosensitivity ORPHA:33314
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Brittle hair,... OMIM:608612
Alopecia-Intellectual Disability Syndrome
Growth delay, Short stature, Alopecia, Ichthyosis, Flexion contracture, Hypergonadotropic hypogon... ORPHA:2850
Pseudoprogeria Syndrome
Growth delay, Short stature, Failure to thrive, Alopecia, Absent eyebrow, Absent eyelashes, Thin ... ORPHA:2985
Alopecia Universalis
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes ORPHA:701
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Short stature, Dysmetria, Hypogonadotropic hypogonadism, Osteopo... ORPHA:48431
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Growth delay, Erythema, Spastic tetraplegia, Hypertonia, Scaling skin, Ichthyosis, Flexion contra... OMIM:614457
Aicardi-Goutieres Syndrome 5
Scaling skin, Spasticity, Flexion contracture, Dry skin, Thrombocytopenia OMIM:612952
Flynn-Aird Syndrome
Bone cyst, Cachexia, Alopecia, Kyphosis, Ataxia, Joint stiffness, Scoliosis, Skin ulcer ORPHA:2047
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Cataract, Male hypogonadism OMIM:240950
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, Alopecia, N... ORPHA:79397
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract OMIM:607906
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er... ORPHA:87503
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin, Erythema, Skin ulcer ORPHA:31112
Cahmr Syndrome
Lamellar cataract, Generalized hypertrichosis OMIM:211770
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia, Thickened skin OMIM:247100
Pachyonychia Congenita 4
Nail dystrophy, Palmoplantar keratoderma, Steatocystoma multiplex, Hyperkeratosis OMIM:615728
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Pallor, Anemia, Splenomegaly ORPHA:46532
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Onychogryposis of fingernail, Fingernail dysplasia, Hyperpigmentation... ORPHA:2251
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Centrifugal Lipodystrophy
Lack of facial subcutaneous fat, Absence of subcutaneous fat, Alopecia, Reduced subcutaneous adip... ORPHA:90156
Vibratory Urticaria
Facial erythema, Urticaria, Flushing OMIM:125630
Intermediate Generalized Junctional Epidermolysis Bullosa
Anonychia, Growth delay, Abnormality of skin pigmentation, Nail dystrophy, Atrophic scars, Scarri... ORPHA:79402
Ichthyosis-Hypotrichosis Syndrome
Sparse hair, Ichthyosis ORPHA:91132
Rhizomelic Chondrodysplasia Punctata, Type 1
Coronal cleft vertebrae, Epiphyseal stippling, Kyphoscoliosis, Alopecia, Rhizomelia, Calcific sti... OMIM:215100
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Short stature, Dorsocervical fat pad, Osteoporosis, Delayed puberty, Primary amenorrhea, Short ne... OMIM:616033
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Nuclear cataract, Sparse eyelashes, Absent hair, Ridged nail, Nail dystrophy, Sparse eyebrow, Abs... ORPHA:1010
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Microphthalmia, Isolated 3
Anophthalmia, Sclerocornea, Microphthalmia OMIM:611038
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Abnormality of the vertebral column, Short stature, Abnormal vertebral morphology, Nail dystrophy... OMIM:308205
Primary Myelofibrosis
Ecchymosis, Leukocytosis, Cachexia, Thrombocytosis, Petechiae, Hemangioma, Anemia, Splenomegaly, ... ORPHA:824
Uveal Melanoma
Mydriasis, Zonular cataract, Iris melanoma, Inferior lens subluxation, Ciliary body melanoma ORPHA:39044
Mastocytosis, Cutaneous
Urticaria, Cutaneous mastocytosis, Erythema, Telangiectasia macularis eruptiva perstans OMIM:154800
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Alopecia, Abnormal toenail morphology, Abnormality of the nail, Ho... ORPHA:494
Cutaneous Small Vessel Vasculitis
Erythema, Urticaria, Cutis marmorata, Recurrent skin infections, Skin rash, Purpura ORPHA:889
Erythrokeratoderma ''En Cocardes''
Neoplasm of the skin, Neoplasm, Hyperkeratosis ORPHA:315
Warburg Micro Syndrome 1
Hypertrichosis, Short stature, Failure to thrive, Kyphoscoliosis, Osteoporosis, Facial hypertrich... OMIM:600118
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Sparse hair, Palmoplantar hyperkeratosis, Dystrophic fingernails OMIM:604536
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Onycholysis, Palmoplantar keratoderma, Hyperkeratosis, Leukonychia, Scaling skin, Epidermal acant... OMIM:616295
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Palmoplantar keratoderma, Hyperkeratosis OMIM:617525
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation, Alopecia, Short stature OMIM:188150
Ichthyosis Hystrix Of Curth-Macklin
Nail dystrophy, Ichthyosis, Flexion contracture, Hyperkeratosis, Diffuse palmoplantar hyperkeratosis ORPHA:79503
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Omphalocele, Highly arched eyebrow, Small for gestational age, Elevated circulating follicle stim... OMIM:618419
Mycosis Fungoides
Neoplasm of the skin, Psoriasiform dermatitis, Eczema, Pruritus, Erythema, Lymphoma OMIM:254400
Palmoplantar Keratoderma, Nagashima Type
Hypergranulosis, Orthokeratotic hyperkeratosis, Epidermal acanthosis OMIM:615598
Forsythe-Wakeling Syndrome
Growth delay, Short stature, Osteoporosis, Thrombocytopenia, Decreased body weight OMIM:613606
Sjögren-Larsson Syndrome
Corneal erosion, Short stature, Erythema, Urticaria, Hyperkeratosis, Dry skin ORPHA:816
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316
Hypotrichosis 12
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... OMIM:615885
Cerebrooculofacioskeletal Syndrome 1
Hirsutism, Failure to thrive, Kyphoscoliosis, Osteoporosis, Arthrogryposis multiplex congenita, J... OMIM:214150
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis, Hypergonadotropic hypogonadism ORPHA:1014
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Interphalangeal joint contracture of finger, Sparse hair, Intrauterine growth retardation, Short ... OMIM:606242
Dyskeratosis Congenita, Autosomal Recessive 6
Intrauterine growth retardation, Failure to thrive, Nail dystrophy, Alopecia, Ataxia, Sparse hair OMIM:616353
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Erythema, Reduced subcutaneous adipose tissue, Vasculitis i... ORPHA:90159
2Q24 Microdeletion Syndrome
Coloboma, Microphthalmia, Cataract, Abnormality iris morphology ORPHA:1617
Congenital Panfollicular Nevus
Hamartoma, Hyperkeratosis ORPHA:139414
Diencephalic Syndrome
Neoplasm of the nervous system, Cachexia, Decreased body weight, Long penis ORPHA:1672
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin, Erythema, Reduced subcutaneous adipose tissue ORPHA:90160
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis OMIM:104130
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Alopecia, Sparse hair OMIM:203600
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Growth delay, Short stature, Failure to thrive, Kyphoscoliosis, Osteoporosis, Amelo... OMIM:614727
Nanophthalmos 4
Microphthalmia OMIM:615972
Syndromic Diarrhea
Short stature, Brittle hair, Hypoplasia of the thymus, Splenomegaly, Woolly hair, Increased mean ... ORPHA:84064
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule, Erythema ORPHA:346
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Growth delay, Erythroid hyperplasia, Short stature, Anemia, Splenomegaly, Anisocytosi... OMIM:615631
Epidermolytic Palmoplantar Keratoderma
Epidermal hyperkeratosis, Interphalangeal joint contracture of finger, Hypergranulosis, Palmoplan... ORPHA:2199
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Growth delay, Brittle hair, Sid... OMIM:616084
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Ataxia, Hypertonia, Scaling skin, Flexion contracture, Hyperkeratosis, Dry skin OMIM:609180
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia, Progressive neurologic deterioration OMIM:612075
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Intrauterine growth retardation, Subcutaneous hemorrhage ORPHA:1980
Kerion Celsi
Lymphadenopathy, Alopecia ORPHA:499
Bullous Dystrophy, Hereditary Macular Type
Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail, Severe short stature OMIM:302000
Erosive Pustular Dermatosis Of The Scalp
Erythema, Pustule ORPHA:222
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Nail dystrophy, Alopecia, Decreased helper T cell proportion, T lymphocytopenia, Nai... OMIM:601705
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Parc Syndrome
Alopecia, Absent eyebrow, Absent eyelashes OMIM:600331
Microphthalmia, Syndromic 13
Coloboma, Microcornea, Microphthalmia OMIM:300915
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Fine hair, Failure to thrive in infancy, Intrauterine growth retardation, Small for gestational a... OMIM:618891
Ectodermal Dysplasia/Short Stature Syndrome
Short stature, Nail dystrophy, Enamel hypoplasia, Hyperkeratosis, Anonychia, Epidermal acanthosis OMIM:616029
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Candidiasis, Familial, 1
Alopecia OMIM:114580
Macs Syndrome
Cutis laxa, Short stature, Osteoporosis, Alopecia, Redundant skin, Joint hypermobility, Ichthyosi... OMIM:613075
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Mulibrey Nanism
Cachexia, Intrauterine growth retardation, Short stature ORPHA:2576
Ectodermal Dysplasia-Syndactyly Syndrome 1
Small nail, Sparse eyelashes, Sparse and thin eyebrow, Coarse hair, Alopecia, Enamel hypoplasia, ... OMIM:613573
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Erythema, Palmoplantar hyperkeratosis OMIM:607602
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Chondroectodermal Dysplasia With Night Blindness
Abnormal hair morphology, Short stature, Fractures of the long bones, Nail dystrophy, Osteoporosi... ORPHA:319195
Acquired Hypertrichosis Lanuginosa
Fine hair, Ovarian neoplasm, Acanthosis nigricans, Neoplasm of the breast, Neoplasm of the respir... ORPHA:2221
Porphyria Cutanea Tarda
Onycholysis, Hepatocellular carcinoma, Alopecia, Facial hypertrichosis, Scleroderma OMIM:176100
Tricho-Retino-Dento-Digital Syndrome
Juvenile cataract, Sparse hair, Uncombable hair ORPHA:1264
Olmsted Syndrome 2
Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Woolly hair, Hyperkeratosis, Al... OMIM:619208
Rhizomelic Chondrodysplasia Punctata
Growth delay, Short stature, Epiphyseal stippling, Rhizomelia, Alopecia, Ichthyosis, Limitation o... ORPHA:177
Menkes Disease
Cutis laxa, Intrauterine growth retardation, Short stature, Osteoporosis, Hypopigmentation of the... OMIM:309400
Progressive Non-Fluent Aphasia
Astrocytosis ORPHA:100070
Norrie Disease
Microphthalmia, Shallow anterior chamber, Hypoplasia of the iris, Cataract, Opacification of the ... OMIM:310600
Hypotrichosis 10
Sparse eyelashes, Sparse eyebrow, Sparse body hair OMIM:614238
Nathalie Syndrome
Cataract OMIM:255990
Sézary Syndrome
Neoplasm of the skin, Hepatomegaly, Lymphadenopathy, Nail dystrophy, Alopecia, Abnormal lymphocyt... ORPHA:3162
Primary Erythromelalgia
Leukemia, Pruritus, Erythema ORPHA:90026
Skin Fragility-Woolly Hair Syndrome
Sparse eyelashes, Acantholysis, Failure to thrive, Nail dystrophy, Alopecia, Palmoplantar keratos... OMIM:607655
Psoriasis 2
Psoriasiform dermatitis, Parakeratosis, Hyperkeratosis, Scaling skin, Epidermal acanthosis OMIM:602723
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Trichodermodysplasia-Dental Alterations Syndrome
Fine hair, Neoplasm of the skin, Adenoma sebaceum, Sparse lateral eyebrow, Brittle hair, Palmopla... ORPHA:3353
Acrokeratosis Verruciformis Of Hopf
Verrucae, Nail dystrophy, Hypergranulosis, Leukonychia, Hyperkeratosis, Punctate palmoplantar hyp... ORPHA:79151
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Palmoplantar keratoderma OMIM:617524
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis OMIM:172500
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Palmoplantar hyperkeratosis, Spastic paraplegia OMIM:309560
Brachycephaly, Trichomegaly, And Developmental Delay
Highly arched eyebrow, Short stature, Brittle hair, Long eyelashes, Thick eyebrow, Synophrys OMIM:617412
Microcephalic Primordial Dwarfism, Montreal Type
Shagreen patch, Alopecia of scalp, Abnormal hair quantity, Kyphosis, Reduced bone mineral density... ORPHA:2617
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Congenital ichthyosiform erythroderma, Epidermal acanthosis OMIM:615023
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair OMIM:164680
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Melanocytic nevus, Alopecia universalis, Abnormal eyelash mo... ORPHA:1008
Gombo Syndrome
Microphthalmia OMIM:233270
Rodrigues Blindness
Fine hair, Microphthalmia, Sclerocornea, Microcornea, Sparse hair OMIM:268320
Kid Syndrome
Trichilemmoma, Neoplasm of the skin, Sparse eyelashes, Palmoplantar keratoderma, Postnatal growth... ORPHA:477
Classic Galactosemia
Decreased fertility in females, Secondary amenorrhea, Clumsiness, Postural tremor, Oligomenorrhea... ORPHA:79239
Microphthalmia, Isolated 4
Coloboma, Microphthalmia OMIM:613094
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis OMIM:617115
Syndromic X-Linked Intellectual Disability 7
Short stature, Hypogonadism, Obesity, Cryptorchidism, Sparse body hair ORPHA:85274
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Sclerocornea, Long eyelashes, Cataract, Coloboma, Microcornea, Ecto... OMIM:615877
Cutaneous Mastocytoma
Angioedema, Pruritus, Erythema, Telangiectasia of the skin, Dermatographic urticaria, Darier's si... ORPHA:79455
Neoplasm of the skin, Hepatomegaly, Neoplasm of the lung, Cerebral palsy, Thickened skin, Osteopo... ORPHA:2796
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
Shashi-Pena Syndrome
Highly arched eyebrow, Osteoporosis, Scoliosis, Kyphosis OMIM:617190
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617574
Spinocerebellar Ataxia 48
Cachexia, Tremor, Irritability, Mental deterioration, Anxiety OMIM:618093
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Alopecia, Palmoplantar keratoderma, Squamous cell carcino... ORPHA:50944
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Intrauterine growth retardation, Short stature, Increased susceptibility to fractures, Osteoporos... OMIM:612199
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Osteoporosis, Anemia, Splenome... ORPHA:100024
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Weight loss, Erythema, Urticaria ORPHA:703
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Psoriasiform lesion, Failure to thrive, Lymphadenopathy, Alopecia, Decreased proport... ORPHA:169154
Cardiofaciocutaneous Syndrome 3
Short stature, Failure to thrive, Webbed neck, Reduced bone mineral density, Curly hair, Hyperker... OMIM:615279
Ehlers-Danlos Syndrome, Classic-Like, 2
Thin eyebrow, Webbed neck, Atrophic scars, Osteoporosis, Low posterior hairline, Inguinal hernia,... OMIM:618000
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Amenorrhea, Azoospermia, Ascites, Hyp... OMIM:235200
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Short stature, Failure to thrive, Nail dystrophy, Osteoporosis, Bone marrow hypocellu... OMIM:613989
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Palmoplantar keratoderma, Epidermal acanthosis OMIM:615735
Punctate Palmoplantar Keratoderma Type 1
Brain neoplasm, Basal cell carcinoma, Palmoplantar keratoderma, Neoplasm of the skeletal system, ... ORPHA:79501
Mcdonough Syndrome
Cachexia, Short stature, Kyphosis, Cryptorchidism, Scoliosis, Synophrys ORPHA:2471
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Acanthosis nigricans, Short stature, Abnormal hair pattern, Kyphosis, Hypogonadism, Tre... ORPHA:85293
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Growth delay, Short stature, Nail dystrophy, Brittle hair ORPHA:93947
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Neutropenia, Short stature, Failure to thrive, Weight loss, Alopecia,... ORPHA:47
Lichtenstein Syndrome
C1-C2 subluxation, Hirsutism, Neutropenia, Increased susceptibility to fractures, Osteoporosis, E... OMIM:246550
Hemoglobin E Disease
Hypochromia, Intrauterine growth retardation, Hypochromic microcytic anemia, Increased red blood ... ORPHA:2133
Ichthyosis, Congenital, Autosomal Recessive 6
Dry skin, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, Congenital nonbullous ichthyos... OMIM:612281
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Short stature, Osteoporosis, Reduced subcutaneous adipose tissue, Coarse hair, Recurrent fracture... OMIM:248010
Xq27.3Q28 Duplication Syndrome
Intrauterine growth retardation, Short stature, Failure to thrive, Truncal obesity, Hypogonadism,... ORPHA:261483
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Palmoplantar keratoderma, Woolly hair OMIM:610476
L-Ferritin Deficiency
Alopecia OMIM:615604
Nail-Patella Syndrome
Anonychia, Lester's sign, Microphakia, Ridged nail, Antecubital pterygium, Cataract, Concave nail... OMIM:161200
Pemphigus Foliaceus
Psoriasiform dermatitis, Neoplasm of the skin, Erythroderma, Pustule, Acantholysis, Pruritus, Ery... ORPHA:79481
Porphyria Cutanea Tarda
Hirsutism, Scarring, Hepatocellular carcinoma, Hypertrichosis, Corneal scarring, Elevated hepatic... ORPHA:101330
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Erythema, Telangiectasia of the skin, Fragile skin, Squamou... ORPHA:542592
Sialidosis Type 2
Hepatomegaly, Ascites, Short stature, Osteoporosis, Inguinal hernia, Kyphosis, Splenomegaly, Trem... ORPHA:87876
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, Spotty hyperpigmentation, Hypermel... ORPHA:79399
Sydenham Chorea
Emotional lability, Erythema, Irritability ORPHA:306731
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Renpenning Syndrome
Cachexia, Thin eyebrow, Growth delay, Alopecia, Severe short stature, Joint stiffness, Decreased ... ORPHA:3242
Dyskeratosis Congenita, Autosomal Dominant 3
Fine hair, Dry skin, Intrauterine growth retardation, Growth delay, Leukopenia, Short stature, Al... OMIM:613990
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Intrauterine growth retardation, Tracheobronchomalacia, Brittle hair, Joint hypermobility, Enamel... OMIM:619184
Trichohepatoenteric Syndrome 1
Fine hair, Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Intrauterine growth reta... OMIM:222470
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
19Q13.11 Microdeletion Syndrome
Fine hair, Cachexia, Intrauterine growth retardation, Growth delay, Failure to thrive, Sparse lat... ORPHA:217346
Craniolenticulosutural Dysplasia
Short stature, Abnormality of skin pigmentation, Brittle hair, Coarse hair, Capillary hemangioma,... ORPHA:50814
Granulomatous Slack Skin
Cutis laxa, Hodgkin lymphoma, Erythema, Lymphoma, Redundant skin ORPHA:33111
Aniridia 2
Aniridia, Cataract OMIM:617141
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Pili torti, Reduced terminal:vellus ratio, Sparse hair OMIM:601553
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Oculodentodigital Dysplasia
Fine hair, Hyperostosis, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology... ORPHA:2710
Arthrogryposis And Ectodermal Dysplasia
Nuclear cataract, Trichiasis, Absent eyebrow, Nail dysplasia, Trichodysplasia OMIM:601701
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dystrophy, Alopecia, Parakeratosis, Nail dysplasia, Flexion contracture, Sparse hair, Palmop... OMIM:242300
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hepatosplenomegaly, Accumulation of melanosomes i... OMIM:607624
Leopard Syndrome 3
Epidermal hyperkeratosis, Growth delay, Short stature, Webbed neck, Curly hair, Multiple lentigin... OMIM:613707
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Fine hair, Dystrophic fingernails, Short stature, Dystrophic toenail, Sparse and thin eyebrow, Al... ORPHA:1882
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Alopecia totalis, Palmoplantar keratoderma, Parakeratosis, Hyperkeratos... OMIM:300918
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Short stature, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly, Obesity OMIM:264010
Christianson Syndrome
Cachexia, Arthrogryposis multiplex congenita, Stereotypy, Thick eyebrow, Truncal ataxia, Gait ata... ORPHA:85278
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Nail dystrophy, Gastrointestinal carcinoma, Alopecia, Anemia, Nail dysplasia, Hamartoma... OMIM:175500
Carvajal Syndrome
Woolly hair ORPHA:65282
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Retinitis Pigmentosa 84
Macular coloboma, Cataract OMIM:618220
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Joint hypermobility, Fragile nails, Fine hair ORPHA:500166
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Abnormal fingernail m... ORPHA:248
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Osteoporosis, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis OMIM:618234
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Cachexia, Neoplasm of the lung, Neoplasm of the central nervous system, Weight ... ORPHA:83469
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Fine hair, Microphthalmia, Sclerocornea, Corneal dystrophy, Cataract,... ORPHA:1806
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Osteoporosis, Delayed puberty, Osteopenia OMIM:615270
Warburg Micro Syndrome 3
Developmental cataract, Shallow anterior chamber, Microphthalmia, Hypertrichosis, Low anterior ha... OMIM:614222
Osteogenesis Imperfecta, Type Xiii
Short stature, Kyphoscoliosis, Osteoporosis, Long eyelashes, Platyspondyly, Joint hypermobility, ... OMIM:614856
Sporadic Creutzfeldt-Jakob Disease
Gliosis, Astrocytosis ORPHA:204
X-Linked Intellectual Disability, Stocco Dos Santos Type
Short stature, Hirsutism, Small for gestational age, Kyphosis ORPHA:85288
Keratolytic Winter Erythema
Erythema, Pustule ORPHA:50943
Congenital Disorder Of Glycosylation, Type Iq
Hypertrichosis, Cutis laxa, Microcytic anemia, Ichthyosis, Hyperkeratosis OMIM:612379
Xeroderma Pigmentosum
Short stature, Pterygium, Hyperkeratosis, Papilloma, Opacification of the corneal stroma, Neoplas... ORPHA:910
Ramon Syndrome
Abnormality of retinal pigmentation, Failure to thrive, Abnormal dental enamel morphology, Genera... ORPHA:3019
Cataract 47
Microcornea, Cataract OMIM:612018
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Thoracic kyphoscoliosis, Severe postnatal growth retardation, Alopecia, Generalized hypoplasia of... OMIM:203550
Vulvovaginal Gingival Syndrome
Pruritus, Erythema, Abnormality of female external genitalia, Parakeratosis ORPHA:83453