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Gene: Ercc2 MGI:95413

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Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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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
phenotypes		 Matching phenotypes Source
Uncombable Hair Syndrome 2
Uncombable hair, Juvenile cataract, Pili canaliculi OMIM:617251
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
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
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Cataract 44
Developmental cataract OMIM:616509
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia, Coloboma OMIM:251505
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Infertility OMIM:300719
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Bazex Syndrome
Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Neoplasm, Nail dystrophy, ... ORPHA:166113
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi... OMIM:610202
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... ORPHA:83461
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Erythrokeratodermia Variabilis
Cataract, Skin rash, Short stature, Corneal opacity, Erythema, Patchy palmoplantar hyperkeratosis... ORPHA:317
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... OMIM:261900
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Cataract 18
Nuclear cataract OMIM:610019
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract, Chorioretinal coloboma OMIM:274205
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Growth delay, Sparse or absent eyelashes, Pili torti, Aplasia/Hypopl... ORPHA:2891
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the lens, Cataract ORPHA:1381
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Absent eyelashes, Generalized... ORPHA:2890
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Lymphoma, Erythema, Hyperkeratosis, Neoplasm, Palmoplantar k... ORPHA:454
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Epidermal acanthosis, Absent facia... ORPHA:90368
Xeroderma Pigmentosum, Complementation Group G
Cataract, Small for gestational age, Tremor, Defective DNA repair after ultraviolet radiation dam... OMIM:278780
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa... OMIM:129500
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Epidermal acanthosis, Tetraplegia/tetraparesis, Sparse eyebrow, Rigi... ORPHA:2269
Xeroderma Pigmentosum, Complementation Group F
Short stature, Seborrheic keratosis, Tremor, Erythema, Defective DNA repair after ultraviolet rad... OMIM:278760
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Short stature, Fine hair, Pili torti ORPHA:1573
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob... ORPHA:90039
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Cataract-Deafness-Hypogonadism Syndrome
Generalized hypertrichosis, Hypogonadism, Developmental cataract ORPHA:1383
Moynahan Syndrome
Alopecia, Short stature, Cachexia, Hyperkeratosis, Sparse hair ORPHA:2574
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Premature ovarian insufficiency, Short stature, Thin nail, Absent eyelashes, Oste... OMIM:618625
Cataract 42
Cataract, Developmental cataract OMIM:115900
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Erythrokeratodermia Variabilis Et Progressiva 5
Joint stiffness, Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogry... OMIM:617756
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Short stature, Camptodactyly of finger, Kyphosis, Hyperkeratosis, Coarse hair, Join... ORPHA:1883
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Redundant skin, Short stature, Ab... ORPHA:2963
Flynn-Aird Syndrome
Alopecia, Increased bone mineral density, Ataxia, Kyphoscoliosis, Joint stiffness, Osteoporosis, ... OMIM:136300
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Slow-growing hair, Small for gestational age, Short stature, Mild intrauterine grow... OMIM:616943
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Parana Hard Skin Syndrome
Generalized hyperpigmentation, Short stature, Thickened skin, Growth delay, Hyperkeratosis, Gener... ORPHA:2812
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Scaling skin on fingertip, Epidermal acanthosis, Parakeratosis, Hypergranulosis, Palmop... ORPHA:79395
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Brittle hair, Short stature, Ichthyosis, Congenital ichthyosiform erythroderma... OMIM:616395
Bathing Suit Ichthyosis
Alopecia, Multiple joint contractures, Epidermal acanthosis, Parakeratosis, Thickened skin, Palmo... ORPHA:100976
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera... ORPHA:2722
Cataract-Hypertrichosis-Intellectual Disability Syndrome
Generalized hirsutism, Low posterior hairline, Developmental cataract ORPHA:1375
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis ORPHA:505
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Nathalie Syndrome
Cataract ORPHA:2663
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hyperpigmentation, Generalized hirsutism, Delayed puberty ORPHA:2297
Acrokeratosis Verruciformis
Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkera... OMIM:101900
Peeling Skin Syndrome 1
Brittle hair, Short stature, Eosinophilia, Onycholysis, Nail dystrophy OMIM:270300
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract, Hypogonadism ORPHA:2528
Trichothiodystrophy 1, Photosensitive
Brittle hair, Flexion contracture, Squamous cell carcinoma, Sparse hair, Tiger tail banding, Tric... OMIM:601675
Fibrodysplasia Ossificans Progressiva
Alopecia, Spinal rigidity, Limitation of joint mobility, Ectopic ossification in ligament tissue,... ORPHA:337
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... ORPHA:69125
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Menkes Disease
Joint laxity, Alopecia, Brittle hair, Short stature, Babinski sign, Osteoporosis, Cutis laxa, Hyp... OMIM:309400
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... OMIM:602400
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow OMIM:617392
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon OMIM:609218
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital b... OMIM:607602
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Joint stiffness, Abnor... ORPHA:1979
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Short stature, Albinism, Kyphosis, Osteoporosis, Platyspondyly, Pallor,... ORPHA:2786
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta... ORPHA:330058
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Jaberi-Elahi Syndrome
Appendicular spasticity, Brittle hair, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Kyphosi... OMIM:617988
Galactokinase Deficiency
Nuclear cataract, Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency ORPHA:79237
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Inguinal hernia, Brittle hair, Homocystinuria, Kyphoscoliosis, Methioninuria, ... OMIM:236200
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Concave nail, Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperk... ORPHA:530838
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cachexia, ... ORPHA:2930
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Microspherophakia, Ectopia lentis OMIM:614819
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Abnormal fingernail morphology, Premature ovarian insufficiency ORPHA:2278
Oculoauricular Syndrome
Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Macular h... OMIM:612109
Trichohepatoenteric Syndrome 2
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa, Intrauterine growt... OMIM:614602
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Low posterior hairline, Mi... ORPHA:85194
Trichothiodystrophy
Ridged nail, Osteopenia, Brittle hair, Multiple joint contractures, Abnormal pyramidal sign, Squa... ORPHA:33364
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Sparse eyelashes, Short stature, A... ORPHA:35173
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Splenomegaly, Erythema, Lymphoma, Hypopigmente... ORPHA:2584
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Galactosemia Iv
Cataract OMIM:618881
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Intrauterine growth retardation, Alopecia, Brittle hair, Short stature ORPHA:50812
Ichthyosis With Confetti
Short stature, Palmoplantar hyperkeratosis, Ichthyosis, Hypoplastic nipples, Scaling skin, Decrea... OMIM:609165
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Cerulean cataract OMIM:616732
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Facial erythema, Hyperker... OMIM:212360
Verrucous Hemangioma
Hemangioma, Hyperkeratotic papule, Epidermal acanthosis, Papilloma ORPHA:464318
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Atrophoderma Vermiculata
Pruritus, Erythema, Neurofibroma, Follicular hyperkeratosis, Hyperkeratotic papule ORPHA:79100
Winchester Syndrome
Kyphosis, Hirsutism, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized osteoporosis OMIM:277950
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Deep anterior chamber, Microspherophakia, Buphthalmos, Megalocornea OMIM:251750
Congenital Microcoria
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... ORPHA:566
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... ORPHA:2334
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Dorsocervical fat pad, Short stature, Short neck, Low anterior hairline, Osteoporos... OMIM:616033
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa... OMIM:617294
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Squamous cell carcinoma, Hyperkeratosis, Basal cell ... OMIM:224750
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Growth delay, Nail dys... OMIM:234050
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... OMIM:604229
Dermatitis, Atopic
Keratoconus, Cataract, Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial ery... OMIM:603165
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... OMIM:269400
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery... ORPHA:64745
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Osteopenia And Sparse Hair
Sparse hair, Osteopenia, Joint laxity OMIM:259690
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Proteus Syndrome
Epidermal acanthosis, Kyphoscoliosis, Splenomegaly, Facial hyperostosis, Mandibular hyperostosis,... OMIM:176920
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphthalmia OMIM:601794
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Nuclear cataract OMIM:611131
Cutis Laxa, Autosomal Recessive, Type Iia
Inguinal hernia, Brittle hair, Lipodystrophy, Redundant skin, Abnormality of hair texture, Cutis ... OMIM:219200
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis ORPHA:169095
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... ORPHA:231736
Ulerythema Ophryogenesis
Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat... ORPHA:3406
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Werner Syndrome
Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, Neoplasm, Thyroid carcin... ORPHA:902
Netherton Syndrome
Sparse scalp hair, Parakeratosis, Brittle hair, Brittle scalp hair, Sparse eyebrow, Hypereosinoph... OMIM:256500
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Peeling Skin Syndrome 4
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Ich... OMIM:607936
Cardiofaciocutaneous Syndrome
Brittle hair, Redundant skin, Short neck, Sparse hair, Dystrophic fingernails, Short stature, Abn... ORPHA:1340
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphthalmia ORPHA:363741
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Scaling skin, Nail dystrophy, Spar... OMIM:604536
Aredyld Syndrome
Hepatomegaly, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology, Cachexia... ORPHA:1133
Nance-Horan Syndrome
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Palmoplantar hyperker... ORPHA:89838
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin OMIM:617571
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract OMIM:613581
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Short stature, Sparse eyebrow, Reduced hair sulfur content, Spar... OMIM:300953
Galactosemia Ii
Cataract OMIM:230200
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Ocular anterior segment dysgenesis, Coloboma, Developmental cataract ORPHA:324416
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair, Growth delay OMIM:246500
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Peeling Skin Syndrome 3
Abnormal hair morphology, Erythema, White scaling skin OMIM:616265
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Premature ovarian insufficiency, Secondary amenorrhea OMIM:620312
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis... ORPHA:280779
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris co... ORPHA:1473
Hypogonadism-Cataract Syndrome
Male hypogonadism, Cataract, Hypogonadism, Infertility OMIM:240950
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Camptodactyly of finger, Short stature, Ataxia, Kyphosis, Abnormal... ORPHA:48431
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Erythema, Absence of subcutaneous fat, Scaling ... ORPHA:90158
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Nuclear cataract OMIM:617547
Lipoid Proteinosis Of Urbach And Wiethe
Scarring, Thickened skin, Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular matrix... OMIM:247100
Flynn-Aird Syndrome
Alopecia, Ataxia, Cachexia, Joint stiffness, Kyphosis, Bone cyst, Skin ulcer, Scoliosis ORPHA:2047
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Tremor, Abnormal pyramidal sign, Premature graying of hair, Sparse hair, Short statur... OMIM:612199
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Short stature, Coarse hair, Nail dystrophy, Intrauterine growth retardation ORPHA:75389
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia ORPHA:3319
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Jessner Lymphocytic Infiltration Of The Skin
Pruritus, Cutaneous photosensitivity, Erythema ORPHA:33314
Oliver-Mcfarlane Syndrome
Alopecia, Central heterochromia, Hypogonadotropic hypogonadism, Decreased response to growth horm... OMIM:275400
Cahmr Syndrome
Lamellar cataract, Generalized hypertrichosis OMIM:211770
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Plantar hyperkeratosis, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic m... ORPHA:79397
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Inguinal hernia, Erythema, Spastic tetraplegia, Growth delay, Hyperkeratosis, Scaling skin, Conge... OMIM:614457
Maculopapular Cutaneous Mastocytosis
Pruritus, Erythema, Darier's sign, Irritability, Dermatographic urticaria, Generalized abnormalit... ORPHA:79457
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Progress... ORPHA:2985
Exudative Vitreoretinopathy 6
Nuclear cataract, Cataract, Cortical cataract OMIM:616468
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Severe short stature, Hyperpigmentation of the skin, Camptodactyly of finger, Hypopigme... ORPHA:2251
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... OMIM:606367
Warburg Micro Syndrome 1
Short stature, Kyphoscoliosis, Cryptorchidism, Osteoporosis, Spastic diplegia, Facial hypertricho... OMIM:600118
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No... ORPHA:87503
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morphology, H... ORPHA:2325
Aicardi-Goutieres Syndrome 5
Flexion contracture, Scaling skin, Spasticity, Dry skin, Thrombocytopenia OMIM:612952
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Short stature, Flexion contracture, ... ORPHA:2850
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of skin pigmentation, Growth delay, Atrophic scars, Palmo... ORPHA:79402
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:300915
Vibratory Urticaria
Urticaria, Facial erythema, Flushing OMIM:125630
Microphthalmia, Isolated 4
Microphthalmia, Absent testis, Coloboma OMIM:613094
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nuclear catarac... ORPHA:1010
Ichthyosis-Hypotrichosis Syndrome
Sparse hair, Ichthyosis ORPHA:91132
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... OMIM:608612
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Erythema, Skin ulcer, Neoplasm of the skin ORPHA:31112
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Severe short stature, Rhizomelia, Calcific stippling of infantile cartilaginous skeleto... OMIM:215100
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Eryt... ORPHA:90156
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Uveal Melanoma
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Spinocerebellar Ataxia 48
Cachexia, Tremor, Depression, Irritability, Dystonia, Mental deterioration OMIM:618093
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Dry skin, Squamous cell carcinoma, Palmoplantar keratoderma, Scaling skin, Nail dystrop... OMIM:618373
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis, Neoplasm, Neoplasm of the skin ORPHA:315
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Urticaria, Erythema, Telangiectasia macularis eruptiva perstans OMIM:154800
Alpha-Heavy Chain Disease
Hepatomegaly, Alopecia, Splenomegaly, Lymphoma, Lymphadenopathy, Growth delay, Ascites, Anemia ORPHA:100025
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia ORPHA:46532
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Purpura ORPHA:889
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Ataxi... ORPHA:3363
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Palmoplantar hyperkeratosi... OMIM:605676
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Cachexia, Hematological neoplasm, Thr... ORPHA:824
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Erythema, Palmoplantar hyperkeratosis OMIM:617526
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Recon Progeroid Syndrome
Joint laxity, Short stature, Thrombocytopenia, Hyperconvex thumb nails, Absent lower eyelashes, A... OMIM:620370
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Thumb Deformity And Alopecia
Alopecia, Short stature, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Short stature, Interphalangeal joint contracture of finger, Widow's peak, Knee flexion contractur... OMIM:606242
Sjögren-Larsson Syndrome
Short stature, Corneal erosion, Erythema, Urticaria, Hyperkeratosis, Dry skin ORPHA:816
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis, Scaling skin OMIM:617115
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Pruritus, Lymphoma, Erythema, Neoplasm of the skin OMIM:254400
Keratoderma Hereditarium Mutilans
Alopecia, Hypogonadotropic hypogonadism, Osteolysis, Honeycomb palmoplantar hyperkeratosis, Hyper... ORPHA:494
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratosis, Nail dystrophy, Ichthyosis ORPHA:79503
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Forsythe-Wakeling Syndrome
Short stature, Osteoporosis, Growth delay, Decreased body weight, Thrombocytopenia OMIM:613606
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Epidermal acanthosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbull... OMIM:604777
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology, Coloboma ORPHA:1617
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Alopecia totalis ORPHA:1014
Classic Galactosemia
Reduced bone mineral density, Male infertility, Hepatomegaly, Premature ovarian insufficiency, At... ORPHA:79239
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Brittle hair, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic ... OMIM:616084
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Hepatomegaly, Short stature, Kyphoscoliosis, Osteoporosis, Growth delay, Failure to... OMIM:614727
Congenital Panfollicular Nevus
Hyperkeratosis, Hamartoma ORPHA:139414
Quinquaud Folliculitis Decalvans
Pustule, Erythema, Recurrent skin infections ORPHA:346
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Small for gestational age, Failure to thrive in infancy, Short stature, Dystonia, F... OMIM:618891
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... OMIM:601705
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i... ORPHA:90159
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema ORPHA:90160
Syndromic Diarrhea
Brittle hair, Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Hepatoblastom... ORPHA:84064
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Diencephalic Syndrome
Neoplasm of the nervous system, Long penis, Cachexia, Decreased body weight ORPHA:1672
Epidermolytic Palmoplantar Keratoderma
Abnormal fingernail morphology, Epidermal acanthosis, Interphalangeal joint contracture of finger... ORPHA:2199
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Corneal opacity, Subcutaneous hemorrhage ORPHA:1980
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Epidermal acanthosis, Flexion contracture, Palmoplantar hyperkeratosis, ... OMIM:242300
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Short stature, Anemia of inadequate production, Anisocytosis, Splenomegaly, Grow... OMIM:615631
Kerion Celsi
Alopecia, Lymphadenopathy ORPHA:499
Mucolipidosis Ii Alpha/Beta
Osteopenia, Brittle hair, Cardiomegaly, Sparse hair, Hypopigmentation of the skin, Hepatomegaly, ... OMIM:252500
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail OMIM:302000
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Nathalie Syndrome
Cataract OMIM:255990
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Severe short stature, Lipoatrophy, Cryptorchidism, Kyphosis, Dry skin, Lo... ORPHA:2617
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Short stature, Onychauxis, Abnormal hair morphology, Fractures of the long bones, Ost... ORPHA:319195
Candidiasis, Familial, 1
Alopecia OMIM:114580
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Paralysis, Abnormal hair morphology, ... OMIM:242100
Sézary Syndrome
Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Tremor, Splenomegaly, Lymphoma, Dry skin, Lymp... ORPHA:3162
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Olmsted Syndrome 2
Parakeratosis, Epidermal acanthosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperk... OMIM:619208
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni... ORPHA:1008
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Mcdonough Syndrome
Short stature, Cachexia, Cryptorchidism, Synophrys, Kyphosis, Scoliosis ORPHA:2471
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Weight loss, Fine hair, Ov... ORPHA:2221
Kid Syndrome
Scarring alopecia of scalp, Knee flexion contracture, Squamous cell carcinoma, Congenital ichthyo... ORPHA:477
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkerat... OMIM:616295
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Short stature, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow OMIM:617412
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Palmoplantar keratoderma OMIM:617524
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Trichohepatoenteric Syndrome 1
Brittle hair, Hepatic fibrosis, Sparse hair, Intrauterine growth retardation, Hepatomegaly, Short... OMIM:222470
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Rhizomelic Chondrodysplasia Punctata
Alopecia, Short stature, Rhizomelia, Limitation of joint mobility, Spina bifida occulta, Growth d... ORPHA:177
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Severe short stature, Cachexia, Joint stiffness, Growth ... ORPHA:3242
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Plantar hyperkeratosis, Nail dystrophy OMIM:616487
Pachydermoperiostosis
Abnormal hair quantity, Hepatomegaly, Cerebral palsy, Abnormal fingernail morphology, Osteomyelit... ORPHA:2796
Rodrigues Blindness
Sclerocornea, Fine hair, Microcornea, Sparse hair, Microphthalmia OMIM:268320
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Pancytopenia, Aplastic anemia, Short stature, Ataxia, Reticulated skin pigmentation, Cr... OMIM:613990
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Primary Erythromelalgia
Pruritus, Leukemia, Erythema ORPHA:90026
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Hyperlordosis, Fine hair, Sparse or absent eyelashes, Palmoplant... ORPHA:3353
L-Ferritin Deficiency
Alopecia OMIM:615604
Microphthalmia, Isolated 5
Microphthalmia, Cataract OMIM:611040
Cardiofaciocutaneous Syndrome 3
Curly hair, Short stature, Short neck, Reduced bone mineral density, Hyperkeratosis, Scoliosis, W... OMIM:615279
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Schöpf-Schulz-Passarge Syndrome
Alopecia, Squamous cell carcinoma, Ovarian neoplasm, Basal cell carcinoma, Palmoplantar keratoder... ORPHA:50944
Nail-Patella Syndrome
Keratoconus, Ridged nail, Cataract, Concave nail, Antecubital pterygium, Microcornea, Microphakia... OMIM:161200
Dyskeratosis Congenita
Abnormality of neutrophils, White hair, Premature graying of hair, Neoplasm, Skin vesicle, Sparse... ORPHA:1775
19Q13.11 Microdeletion Syndrome
Failure to thrive, Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Growth delay, Spars... ORPHA:217346
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Brittle hair, Absent nipple, Absent hair OMIM:614940
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Juvenile cataract, Sparse hair ORPHA:1264
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Nuclear cataract ORPHA:2848
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Short stature, Ataxia, Tremor, Kyphosis, Splenomegaly, Flexion con... ORPHA:87876
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Gene... OMIM:612281
Pemphigus Foliaceus
Psoriasiform dermatitis, Hematological neoplasm, Pruritus, Pustule, Acantholysis, Crusting erythe... ORPHA:79481
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Short stature, Camptodactyly of finger, Abnormal hair pattern, Short neck, Cache... ORPHA:85293
Junctional Epidermolysis Bullosa Inversa
Squamous cell carcinoma, Growth delay, Atrophic scars, Palmoplantar keratoderma, Basal cell carci... ORPHA:79405
Cutaneous Mastocytoma
Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Angioedema, Erythema, Darier's sig... ORPHA:79455
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:602723
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Dry skin, Cutis laxa, Hyperkeratosis, Ichthyosis, Spasticity, Failure to thriv... OMIM:612379
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Wei... ORPHA:100024
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Palmoplantar keratoderma OMIM:610476
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Gombo Syndrome
Microphthalmia OMIM:233270
X-Linked Agammaglobulinemia
Alopecia, Failure to thrive, Short stature, Abnormality of the tonsils, Osteomyelitis, Thrombocyt... ORPHA:47
Craniolenticulosutural Dysplasia
Brittle hair, Short stature, Posterior wedging of vertebral bodies, Abnormality of skin pigmentat... ORPHA:50814
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Spo... ORPHA:79399
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Abnormal epidermal morphology, Abnormal fingernail morphology ORPHA:79147
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Brittle hair, Short stature, Growth delay, Nail dystrophy ORPHA:93947
Syndromic X-Linked Intellectual Disability 7
Short stature, Cryptorchidism, Obesity, Hypogonadism, Sparse body hair ORPHA:85274
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Erythema, Weight loss, Urticaria ORPHA:703
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Abnormal dental enam... ORPHA:2710
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Sydenham Chorea
Emotional lability, Erythema, Irritability ORPHA:306731
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Failure to thrive, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decr... ORPHA:169154
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Osteoporosis, ... OMIM:235200
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Lipodystrophy, Short stature, Elbow flexion contracture, Osteoporosis, P... OMIM:616200
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Squamous ... ORPHA:542592
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Short stature, Cryptorchidism, Acute leukemia, Hyperkeratosis, Hypogonadism, Att... ORPHA:281090
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cataract, Sclerocornea, Cryptorchidism, Microcornea, Nail dysplasia, Chorioretinal ... ORPHA:139471
Xq27.3Q28 Duplication Syndrome
Short stature, Cryptorchidism, Truncal obesity, Hypogonadism, Sparse body hair, Intrauterine grow... ORPHA:261483
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Bicoronal synostosis, Brittle hair, Joint stiffness, Postnatal growth retardation, Tracheobroncho... OMIM:619184
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... OMIM:607624
Punctate Palmoplantar Keratoderma Type 1
Brain neoplasm, Palmoplantar hyperkeratosis, Squamous cell carcinoma, Prostate cancer, Adenocarci... ORPHA:79501
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Alopecia, Short stature, Ataxia, Postnatal growth retardation, Lymphoma, Osteo... OMIM:212750
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Alopecia, Limb joint contracture, Hypogonadotropic hypogonad... OMIM:612079
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
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
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke... ORPHA:79151
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Short stature, Small for gestational age, Hirsutism ORPHA:85288
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clonus, Upper limb spas... OMIM:611225
Porphyria Cutanea Tarda
Hepatic steatosis, Viral hepatitis, Hyperpigmentation of the skin, Scarring, Hepatocellular carci... ORPHA:101330
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dy... ORPHA:1882
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma ORPHA:2791
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Cachexia, Testicular neoplasm, Weight loss, Neoplasm of the central ner... ORPHA:83469
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcornea, Microphthalmia, Cataract OMIM:616171
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Alopecia, General... OMIM:615559
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Palmoplantar hyp... OMIM:300918
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Carvajal Syndrome
Woolly hair ORPHA:65282
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:212550
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Short stature, Reticulated skin pigmentation, Osteoporosis, Palmop... OMIM:613989
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea... ORPHA:1806
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Granulomatous Slack Skin
Redundant skin, Erythema, Lymphoma, Hodgkin lymphoma, Cutis laxa ORPHA:33111
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Alopecia, Thoracic kyphoscoliosis, Severe short stature,... OMIM:203550
Sporadic Creutzfeldt-Jakob Disease
Gliosis, Astrocytosis ORPHA:204
Christianson Syndrome
Dystonia, Cachexia, Gait ataxia, Joint hyperflexibility, Truncal ataxia, Arthrogryposis multiplex... ORPHA:85278
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Vitreoretinochoroidopathy
Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract OMIM:193220
Late-Onset Junctional Epidermolysis Bullosa
Squamous cell carcinoma, Growth delay, Atrophic scars, Palmoplantar keratoderma, Basal cell carci... ORPHA:79406
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Joint hypermobility, Fragile nails, Fine hair ORPHA:500166
Isolated Glycerol Kinase Deficiency
Short stature, Hyperlordosis, Cryptorchidism, Osteoporosis, Scoliosis ORPHA:408
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Shallow anterior chamber OMIM:267760
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Abnormal fingernail morphology, Squamous cell carcinoma, Atypical scarring of skin, Hyperkeratoti... ORPHA:79410
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Hamartomatous polyposis, Nail dystrophy, Nail dysplasia, Anemia OMIM:175500
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Xeroderma Pigmentosum
Conjunctival telangiectasia, Neoplasm, Papilloma, Pterygium, Short stature, Cryptorchidism, Cogni... ORPHA:910
Tetrasomy 12P
Short stature, Cachexia, Short neck, Sparse eyebrow, Joint hyperflexibility, Sparse hair ORPHA:884
Prolidase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Abnormal fingernail morphology, Splenomegaly, ... ORPHA:742
Acral Peeling Skin Syndrome
Ichthyosis, Erythema, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Marshall-Smith Syndrome
Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Bilateral cryptorchidism, S... OMIM:602535
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Osteopenia, Alopecia, Multiple joint contractures, Thoracic scoliosis, ... ORPHA:2959
Cataract 47
Microcornea, Cataract OMIM:612018
Cofs Syndrome
Microphthalmia, Cataract, Hypogonadism ORPHA:1466
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Trichiasis, Nuclear cataract, Nail dysplasia, Trichodysplasia OMIM:601701
Omenn Syndrome
Alopecia, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Thickened skin, Lymphoma, ... ORPHA:39041
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Ramon Syndrome
Abnormality of retinal pigmentation, Abnormal dental enamel morphology, Gingival fibromatosis, Os... ORPHA:3019
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Atrophic scars, Nail dystrophy OMIM:131850
Craniolenticulosutural Dysplasia
Osteopenia, Joint laxity, Brittle hair, Short stature, Cryptorchidism, Posterior wedging of verte... OMIM:607812
Leopard Syndrome 3
Few cafe-au-lait spots, Curly hair, Short stature, Short neck, Epidermal hyperkeratosis, Low post... OMIM:613707
Perrault Syndrome 1
Short stature, Ataxia, Increased circulating gonadotropin level, Osteoporosis, Spastic diplegia, ... OMIM:233400
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Systemic Lupus Erythematosus 17
Alopecia, Autoimmune thrombocytopenia, Chorea, Leukopenia, Lymphopenia, Thrombocytopenia OMIM:301080
Hereditary Methemoglobinemia
Small for gestational age, Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity,... ORPHA:621
Bone Marrow Failure Syndrome 3
Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, Hernia, Neutropenia, Sparse ... OMIM:617052
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Defective DNA repair after ultraviolet radiation damage, Telangiectasia, Cho... OMIM:278730
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Ataxia, Myelodysplasia, Thrombocytopenia, Osteoporosis, N... OMIM:127550
Trichothiodystrophy 9, Nonphotosensitive
Joint laxity, Ataxia, Sparse eyebrow, Nail dystrophy, Ichthyosis, Sparse hair, Tiger tail banding OMIM:619692
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema OMIM:219095
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Nail dysplasia, Scoliosis... OMIM:615704
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy, Irregular hyperpigmentation of back, Abnormal eyelash morphology, Melanocytic nevus,... ORPHA:1818
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Epidermal acanthosis, Portal... OMIM:607626
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Progressive neurologic deterioration, Failure to thrive, Cachexia, Weight loss OMIM:612075
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair OMIM:129490
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma OMIM:244850
Cerebrooculofacioskeletal Syndrome 2
Sparse hair, Microphthalmia, Cataract, Developmental cataract OMIM:610756
Werner Syndrome
Low back pain, Short stature, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mineral density... OMIM:277700
Dowling-Degos Disease 4
Epidermal acanthosis, Hypergranulosis OMIM:615696
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Brittle hair, Sparse eyebrow, Hydrocele testis, Spasticity OMIM:618810
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform... OMIM:113800
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, Ir... OMIM:110100
Congenital Disorder Of Glycosylation, Type If
Ataxia, Flexion contracture, Dry skin, Hyperkeratosis, Hypertonia, Scaling skin, Failure to thrive OMIM:609180
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cataract, Cryptorchidism OMIM:613730
Vulvovaginal Gingival Syndrome
Pruritus, Abnormality of female external genitalia, Parakeratosis, Erythema ORPHA:83453
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Kyphoscoliosis, Cryptorchidism, Flexion contracture... OMIM:214150
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Back pain, Spastic ataxia, Kyphoscoliosis, Rigidity, Abnormal pyramidal sign, Cervical spondylosi... ORPHA:199354
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormal... ORPHA:232
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of the subungual region, Squamous cell carcinoma, Growth delay, Atrophic scars, Palmo... ORPHA:79411
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Inguinal hernia, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Oste... OMIM:614438
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Dowling-Degos Disease 2
Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis, Reticular hyperpigmentation OMIM:615327
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Erythema ORPHA:36237
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Porphyria Cutanea Tarda
Alopecia, Onycholysis, Cirrhosis, Hepatocellular carcinoma, Facial hypertrichosis, Scleroderma, H... OMIM:176100
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructiv... ORPHA:432
Pituitary Adenoma 4, Acth-Secreting
Striae distensae, Kyphosis, Pituitary adenoma, Osteoporosis, Obesity, Facial erythema, Abdominal ... OMIM:219090
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Atypical Werner Syndrome
Sclerosis of hand bone, Abnormal hair whorl, Reduced bone mineral density, Premature graying of h... ORPHA:79474
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility... ORPHA:397685
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Short stature, Cachexia, Aminoaciduria, Generalized hirsutism ORPHA:1933
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Acrogeria
Lipoatrophy, Short stature, Skin ulcer, Fine hair, Excessive wrinkled skin, Joint hyperflexibilit... ORPHA:2500
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair, Abnormal odontoid tissue morphology ORPHA:401911
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair, Short stature OMIM:619985
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding, Short stature OMIM:616390
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... ORPHA:846
H Syndrome
Microcytic anemia, Hernia, Alopecia, Psoriasiform dermatitis, Short stature, Hepatosplenomegaly, ... ORPHA:168569
Copper Deficiency, Familial Benign
Curly hair, Early balding, Anemia OMIM:121270
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Short stature, Prematurely aged appearance, Cachexia, Confusion, Dry skin, Urticaria, ... ORPHA:220295
Myoectodermal Gonadal Dysgenesis Syndrome
Omphalocele, Accessory spleen, Small for gestational age, Short stature, Elevated circulating lut... OMIM:618419
Extensor Tendons Of Finger Anomalies
Multiple lipomas, Limitation of joint mobility, Osteoporosis, Camptodactyly of finger ORPHA:3294
Aniridia 3
Aniridia, Cataract OMIM:617142
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Inguinal hernia, Ataxia, Cryptorchidism, Fine hair, Sparse hair ORPHA:1174
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Nicolaides-Baraitser Syndrome
Alopecia, Severe short stature, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Cr... ORPHA:3051
Macs Syndrome
Joint laxity, Alopecia, Hypergonadotropic hypogonadism, Redundant skin, Short stature, Sparse eye... OMIM:613075
Zimmermann-Laband Syndrome 3
Thick hair, Kyphosis, Synophrys, Flexion contracture, Low anterior hairline, Absent toenail, Long... OMIM:618658
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Limitation of joint mobility, Join... ORPHA:157973
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic ... OMIM:148700
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... ORPHA:2228
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis OMIM:615269
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis ORPHA:735
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Cataract OMIM:251270
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Failure to thrive in infancy, Cachexia, Short neck, Hypertonia, Scol... OMIM:616801
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Short stature, Neutropenia ORPHA:90023
Anauxetic Dysplasia 2
Short stature, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Short neck, Hyperlordosis, P... OMIM:617396
Mucolipidosis Type Iii
Cognitive impairment, Short stature, Corneal opacity, Acne ORPHA:577
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Perianal erythema, Short stature, Tremor, Irritability, Hypogonadism, Perioral... OMIM:201100
Ataxia-Telangiectasia
Abnormality of chromosome stability, Short stature, Prematurely aged appearance, Telangiectasia o... ORPHA:100
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Cranioectodermal Dysplasia
Rhizomelia, Abnormal fingernail morphology, Abnormal dental enamel morphology, Craniosynostosis, ... ORPHA:1515
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Telangiectasia, Thin ski... ORPHA:158673
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Biemond Syndrome Type 2
Hypogonadism, Microphthalmia, Hypogonadotropic hypogonadism, Coloboma ORPHA:141333
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Sparse facial hair, Aplasia of the ovary, Alopecia, Streak ovary, Lumbar hyperlordosi... ORPHA:2232
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Inguinal hernia, Lumbar hyperlordosis, Short stature, Shoulder flexion contractu... OMIM:255800
Pachyonychia Congenita
Alopecia, Steatocystoma multiplex, Paronychia, Onychogryposis of toenails, Linear arrays of macul... ORPHA:2309
Costello Syndrome
Deep-set nails, Generalized hyperpigmentation, Abnormal fingernail morphology, Redundant skin, Ab... ORPHA:3071
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Short stature, Kyphoscoliosis, Hyperlordosis, Kinetic tremor, Cryptorc... OMIM:616817
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Squamous cell carcinoma, Reduced bone mineral density, Neutropenia, ... ORPHA:2909
Incontinentia Pigmenti
Ridged nail, Hemivertebrae, Abnormality of skin pigmentation, Coarse hair, Pallor, Sparse hair, A... OMIM:308300
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Hyperkeratosis, Irregular hyperpigmentation ORPHA:1336
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... OMIM:305100
Microphthalmia, Syndromic 5
Anophthalmia, Cataract, Optic nerve hypoplasia, Cryptorchidism, Microcornea, Coloboma, Microphtha... OMIM:610125
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... ORPHA:231401
Weaver Syndrome
Deep-set nails, Inguinal hernia, Abnormal fingernail morphology, Redundant skin, Thin nail, Campt... ORPHA:3447
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Short stature, Recurrent fractures, Increased circulating gonadot... ORPHA:2410
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Astrocytosis ORPHA:225154
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Corneal dystrophy, Keratitis, Facial erythema, Folliculitis, Palmoplantar keratoderma, Conjunctiv... OMIM:308800
Xeroderma Pigmentosum, Complementation Group A
Keratitis, Defective DNA repair after ultraviolet radiation damage, Telangiectasia, Choreoathetos... OMIM:278700
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifo... OMIM:613576
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
De Sanctis-Cacchione Syndrome
Parakeratosis, Severe short stature, Keratitis, Bilateral cryptorchidism, Defective DNA repair af... OMIM:278800
Huntington Disease-Like 2
Subcortical dementia, Depression, Weight loss, Irritability, Dementia, Dystonia, Memory impairmen... OMIM:606438
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Short stature, Recurrent fractures, Kyphoscoliosis, Osteoporosis,... OMIM:614856
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Short stature, Postnatal growth retardation, Low anterior hairline, Os... ORPHA:73272
Cortisone Reductase Deficiency 1
Alopecia, Obesity, Infertility, Oligomenorrhea, Hirsutism OMIM:604931
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Erythema Of Acral Regions
Erythema OMIM:227000
Noonan Syndrome 8
Curly hair, Failure to thrive, Short stature, Short neck, Large for gestational age, Cryptorchidi... OMIM:615355
Pulmonary Blastoma
Pleuropulmonary blastoma, Weight loss ORPHA:64741
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Severe short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Mod... ORPHA:1005
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Thickened skin, Flexion contracture, Osteoporosis, ... OMIM:228600
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Sutural cataract OMIM:201470
Ehlers-Danlos Syndrome, Classic-Like, 2
Ventral hernia, Osteopenia, Inguinal hernia, Thoracic scoliosis, Redundant skin, Short neck, Cryp... OMIM:618000
Keratolytic Winter Erythema
Erythema OMIM:148370
Recessive X-Linked Ichthyosis
Cryptorchidism, Hyperkeratosis, Attention deficit hyperactivity disorder, Opacification of the co... ORPHA:461
Acrodermatitis Enteropathica
Failure to thrive, Short stature, Pustule, Corneal erosion, Erythema, Skin ulcer, Dry skin, Weigh... ORPHA:37
Gómez-López-Hernández Syndrome
Cognitive impairment, Corneal opacity, Short stature ORPHA:1532
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Short stature, Bone-marrow foam cells, Microcytic anemia, Rigidi... OMIM:257200
Lig4 Syndrome
Abnormality of chromosome stability, Hypoplasia of penis, Telangiectasia of the skin, Cryptorchid... ORPHA:99812
Cantu Syndrome
Ovoid vertebral bodies, Curly eyelashes, Short neck, Cardiomegaly, Large for gestational age, Cub... OMIM:239850
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Cataract, Sparse eyelashes, Sparse scalp hair, Absent eyelashes, Crypto... OMIM:268400
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic ane... ORPHA:77297
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Facial erythema, Squamous cell carcinoma, Neutropenia, Sparse hair, ... ORPHA:221008
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma OMIM:600251
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Zonular cataract, Optic nerve hypoplasia OMIM:222765
Porphyria, Congenital Erythropoietic
Osteopenia, Hypopigmentation of the skin, Absent eyebrow, Alopecia, Hemolytic anemia, Hepatomegal... OMIM:263700
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Short stature, Ataxia, Thrombocytopenia, Premat... ORPHA:3322
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Cartilage-Hair Hypoplasia
Sparse facial hair, Neutropenia, Sparse hair, Neonatal short-limb short stature, Joint laxity, Lu... OMIM:250250
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Lipodystrophy, Short stature, Splenomegaly, Pr... OMIM:612526
Lysinuric Protein Intolerance
Hepatomegaly, Short stature, Recurrent fractures, Thrombocytopenia, Splenomegaly, Osteoporosis, C... OMIM:222700
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Lower limb spasticity, Ataxia, Clonus, Cachexia, Parkinsonism, Head titubation, C... ORPHA:300605
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na... ORPHA:79153
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Erythema, Thin skin, Acantholysis ORPHA:455
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Ataxia, Abnormal dental enamel morphology, Hamartoma of tongue, Tarsal sy... ORPHA:2750
Hereditary Mucoepithelial Dysplasia
Alopecia, Cataract, Corneal dystrophy, Fine hair, Sparse hair ORPHA:1839
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Sparse lateral eyebrow, Cataract OMIM:619694
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia, Cryptorchidism OMIM:601349
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Decreased fe... OMIM:210900
Xeroderma Pigmentosum, Complementation Group E
Keratitis, Defective DNA repair after ultraviolet radiation damage, Telangiectasia, Melanoma, Bas... OMIM:278740
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Nuclear cataract, Cataract OMIM:608885
Mevalonic Aciduria
Nuclear cataract, Cataract OMIM:610377
Cat-Eye Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:195
Functioning Gonadotropic Adenoma
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... ORPHA:91348
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, I... OMIM:615821
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Astrocytoma, Reduced bone mineral density, Neoplasm of the central nervous sys... ORPHA:2611
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Sparse facial hair, Small for gestational age, Sparse axillary hair, Short stature, C... OMIM:608154
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom... OMIM:120200
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Dermoids Of Cornea
Corneal opacity OMIM:304730
Erythema Palmare Hereditarium
Erythema OMIM:133000
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Benign Chronic Pemphigus
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Pallor, Thrombocytopenia ORPHA:517
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Short stature, Flexion contracture, Osteolysis involving bones of the upper limbs, Oste... ORPHA:88630
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Thickened skin, Ankylosis, Erythema, Osteolysis, Skin u... ORPHA:659
Tufted Angioma
Purpura, Petechiae, Thrombocytopenia, Neoplasm of the skin, Facial hemangioma, Hemangioma of the ... ORPHA:1063
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Acute Radiation Syndrome
Skin ulcer, Hyperkeratosis, Scaling skin, Granulocytopenia, Lymphopenia, Thrombocytopenia ORPHA:454831
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Basan Syndrome
Epidermal acanthosis, Hypermelanotic macule, Palmoplantar keratoderma, Nail dystrophy, Flexion co... OMIM:129200
Alexander Disease Type I
Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failure to thrive ORPHA:363717
Riboflavin Transporter Deficiency
Tremor, Hypogonadism, Cachexia, Iris hypopigmentation ORPHA:97229
Autosomal Erythropoietic Protoporphyria
Eczema, Pruritus, Erythema, Cholelithiasis, Cutaneous photosensitivity ORPHA:79278
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko... ORPHA:98850
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Skin ulcer, Hyperkeratosis, Onycholysis, Neoplasm of th... ORPHA:525
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... ORPHA:2457
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Perioral erythema OMIM:248300
Tooth Agenesis, Selective, 8
Sparse eyebrow, Dry skin, Sparse hair OMIM:617073
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Osteoporosis, Pigmentary retinopathy, Macrovesicular hepatic steatosis, S... OMIM:618234
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Myelodysplasia, Thrombocytopenia, Hirsutism, Ane... OMIM:617475
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Thrombocytopenia, Pterygium o... OMIM:224230
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Severe short stature, Abnormal eyelash morphology, Abnormal hair morphology, Thicke... ORPHA:2526
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Atrophic scars, Sparse hair, Sp... ORPHA:79133
Mantle Cell Lymphoma
Splenomegaly, B-cell lymphoma, Weight loss ORPHA:52416
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Sparse eyebrow, ... OMIM:613102
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Slender build, Cachexia, Weight loss OMIM:613662
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Srd5A3-Cdg
Ataxia, Decreased response to growth hormone stimulation test, Microcytic anemia, Abnormal hair m... ORPHA:324737
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Short stature, Scoliosis, Hirsutism OMIM:300434
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypoparathyroidism, Osteopo... ORPHA:231226
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Lipodystrophy, Hyperlordosis, Spinal rigidity, Splenomegaly, Flexion co... OMIM:613327
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Weight loss, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Cutaneous photos... ORPHA:312
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Short stature, Thick hair, Cardiomegaly, Large for gestational age, Low... ORPHA:363705
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis OMIM:611087
Proximal Myotonic Myopathy
Cataract ORPHA:606
Huntington Disease-Like 2
Memory impairment, Weight loss, Dementia, Dystonia ORPHA:98934
Familial Cold Autoinflammatory Syndrome 3
Pruritus, Angioedema, Erythema, Dermatographic urticaria, Cold urticaria OMIM:614468
Galactosialidosis
Corneal opacity ORPHA:351
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Short stature, Basal cell carcinoma, Melanoma, Squamous cell carcinom... OMIM:620040
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Premature gray... ORPHA:33445
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Flexion contracture, Periorificial hyperkeratosis, Hyper... OMIM:614594
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Filippi Syndrome
Dystonia, Postnatal growth retardation, Cryptorchidism, Decreased body weight, Sparse hair, Intra... OMIM:272440
Retinitis Pigmentosa 86
Cortical cataract OMIM:618613
Familial Cold Urticaria
Pruritus, Urticaria, Erythema, Conjunctivitis ORPHA:47045
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Truncal obesity, Scoliosis, Spasticity, ... ORPHA:2429
Baralle-Macken Syndrome
Kyphosis, Hirsutism, Obesity, Dystonia, Acanthosis nigricans, Spasticity, Cafe-au-lait spot, Stri... OMIM:619255
Morquio Syndrome C
Severe short stature, Corneal opacity OMIM:252300
Nanophthalmos
Microphthalmia ORPHA:35612
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... ORPHA:59303
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Short stature, Increased connective tissue, Scarring alopecia of scalp, Palmoplantar hyperkeratos... OMIM:226670
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Joint stiffness, Lack of skin elasticity, Atypical scarring of skin, Palmoplant... ORPHA:1366
Prolactinoma
Osteopenia, Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fer... ORPHA:2965
Argininosuccinic Aciduria
Hepatomegaly, Dry hair, Brittle hair, Ataxia, Aminoaciduria, Hepatic fibrosis, Failure to thrive,... OMIM:207900
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Mixed hypo- and hyperpigmentation of the skin, Abnormality of the spleen, Thickened... ORPHA:79456
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Flexion contracture, Rib osteolysis, Alopecia, Short stature, Sparse eyeb... OMIM:614008
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hypoparathyroidism, Hepatomegaly, Anemia ... ORPHA:231214
Naxos Disease
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture ORPHA:34217
Rothmund-Thomson Syndrome Type 2
Osteopenia, Aplastic anemia, Facial erythema, Squamous cell carcinoma, Neutropenia, Sparse hair, ... ORPHA:221016
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Cataract, Optic nerve hypoplasia OMIM:615181
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis, Dry skin, Scaling skin OMIM:618084
Diamond-Blackfan Anemia 9
Growth delay, Anemia OMIM:613308
Hall-Riggs Syndrome
Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine gro... OMIM:234250
Aicardi-Goutieres Syndrome 9
Hypertonia, Hepatic fibrosis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Portal hypertens... OMIM:619487
Poems Syndrome
Sclerosis of hand bone, Lipodystrophy, Hyperpigmentation of the skin, Lymphoproliferative disorde... ORPHA:2905
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Lissencephaly 8
Microphthalmia, Cataract OMIM:617255
Cardiofaciocutaneous Syndrome 4
Joint laxity, Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone ... OMIM:615280
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Ataxia, Osteoporosis, Spastic tetraplegia, Myoclonus, Erratic myoclonus OMIM:619971
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Congenital Ichthyosiform Erythroderma
Alopecia, Short stature, Palmoplantar keratoderma, Ichthyosis, Failure to thrive, Abnormality of ... ORPHA:79394
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Low anterior hairline, Coloboma, Microphthalmia OMIM:613153
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Pyoderma gangrenosum, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... OMIM:601952
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Psoriasiform lesion, Autoimmune hemolytic anemia, Chro... OMIM:614700
Cataract 49
Posterior cortical cataract OMIM:619593
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering... ORPHA:158681
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous abscess OMIM:147060
Lupus Erythematosus Tumidus
Scarring, Scaling skin ORPHA:90283
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato... OMIM:617525
Xeroderma Pigmentosum, Complementation Group C
Keratitis, Defective DNA repair after ultraviolet radiation damage, Telangiectasia, Basal cell ca... OMIM:278720
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Noonan Syndrome 6
Curly hair, Juvenile myelomonocytic leukemia, Short stature, Long eyebrows, Short neck, Cryptorch... OMIM:613224
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Osteoporosis, Cirrhosis, Failure... ORPHA:79301
Propionic Acidemia
Hepatomegaly, Pancytopenia, Dystonia, Short stature, Osteoporosis, Hyperglycinuria, Anemia, Neutr... OMIM:606054
Nance-Horan Syndrome
Microcornea, Microphthalmia, Cataract ORPHA:627
Nijmegen Breakage Syndrome
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, B-cell lymp... ORPHA:647
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, B... OMIM:221900
Spastic Paraplegia 53, Autosomal Recessive
Clonus, Kyphosis, Spastic paraplegia, Joint hyperflexibility, Lower limb hypertonia, Upper limb h... OMIM:614898
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Trichothiodystrophy 8, Nonphotosensitive
Sparse eyebrow, Head titubation, Babinski sign, Craniofacial dystonia, Spastic diplegia, Cutis la... OMIM:619691
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Pruritus, Urticaria, Angioedema, Erythema ORPHA:100057
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Thoracic scoliosis, Short stature, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Th... OMIM:610185
Graft Versus Host Disease
Fasciitis, Dupuytren contracture, Lipodystrophy, Limited elbow movement, Jaundice, Stiff interpha... ORPHA:39812
Wolman Disease
Cachexia, Bone-marrow foam cells, Splenomegaly, Growth delay, Anemia ORPHA:75233
Hurler-Scheie Syndrome
Hepatomegaly, Short stature, Abnormality of the tonsils, Splenomegaly, Limitation of joint mobili... ORPHA:93476
Odontoonychodermal Dysplasia
Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Dystrophic fingernails, Thin nail, Sparse eye... OMIM:257980
Heyn-Sproul-Jackson Syndrome
Sparse hair, Intrauterine growth retardation, Severe short stature, Decreased body weight OMIM:618724
Intellectual Developmental Disorder, Autosomal Recessive 5
Small for gestational age, Short stature, Postnatal growth retardation, Synophrys, Achilles tendo... OMIM:611091
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Flexion contracture, Corneal scarring, Squamous cell carcinoma, Growth delay, Atrophic ... OMIM:226600
Alpha-Thalassemia Myelodysplasia Syndrome
Myelodysplasia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Speech apraxia, Lower limb spasticity, Alopecia, Postural tremor, Rigidity, Truncal ataxia, Hand ... ORPHA:412057
Pellagra-Like Syndrome
Cataract OMIM:260650
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Kyphoscoliosis, Joint stiffness, Splenomegaly, Synophrys, Ovoid thoracolumbar verte... OMIM:252930
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Synophrys, Low anterior hairline, Coarse hair, Hernia, Decreased skull os... ORPHA:955
Xfe Progeroid Syndrome
Failure to thrive, Severe short stature, Prematurely aged appearance, Premature ovarian insuffici... OMIM:610965
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Developmental cataract OMIM:613155
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hirsutism, Action tremor ORPHA:77296
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Dorsocervical fat pad, Small for gestational age, Kyphoscoliosis, Short neck, Propo... ORPHA:391408
Sialidosis Type 1
Short stature, Ataxia, Tremor, Splenomegaly, Kyphosis, Slurred speech, Abnormal form of the verte... ORPHA:812
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Sparse scalp hair, Recurrent fractures, Postnatal growth retardation, Fine hair, Join... ORPHA:2324
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Sparse facial hair, Absent facial hair, Short neck, Short stature... ORPHA:2183
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hepatomegaly, Failure to thrive, Short stature, Osteoporosis, Growth delay, Portal fi... ORPHA:369
Protoporphyria, Erythropoietic, 1
Pruritus, Cholelithiasis, Erythema, Eczema OMIM:177000
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morphology, Thromboc... ORPHA:75564
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Striae distensae, Dorsocervical fat pad, Pituitary adenoma, Primary hyperparathyroidism... ORPHA:189427
Fanconi Anemia, Complementation Group S
Short stature, Ataxia, Low anterior hairline, Breast carcinoma, Ovarian neoplasm, Long eyelashes,... OMIM:617883
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Joint stiffness, Splenomegaly, Synophrys, Ovoid thoracolumbar vert... OMIM:252900
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Alopecia, Adrenal hyperplasia, Dorsocervical fat pad, Osteoporosis, Increased body we... OMIM:615830
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Pallor, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocyt... ORPHA:98849
Dystrophic Epidermolysis Bullosa Pruriginosa
Scarring, Hyperkeratosis, Atrophic scars, Nail dystrophy, Abnormal toenail morphology ORPHA:89843
Schwartz-Jampel Syndrome
Short neck, Low anterior hairline, Hypertonia, Wrist flexion contracture, Generalized hirsutism, ... ORPHA:800
Microphthalmia, Isolated, With Coloboma 9
Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, ... OMIM:615145
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Cryptorchidism, Inguinal hernia, Osteoporosis ORPHA:2958
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Short stature, Reduced circulating prolactin concentration, Recurr... ORPHA:2235
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Postnatal growth retardation, Osteoporosis, Abnormality of the l... ORPHA:2169
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Excessive skin wrinkling on dorsum of hands and fingers, Palmoplan... ORPHA:498359
Dermatitis Herpetiformis
Eczema, Pruritus, Erythema, Urticaria, Skin vesicle ORPHA:1656
Cockayne Syndrome B
Dry hair, Tremor, Ivory epiphyses of the phalanges of the hand, Abnormality of skin pigmentation,... OMIM:133540
Ectodermal Dysplasia-Skin Fragility Syndrome
Short stature, Scarring, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Follicular hyper... ORPHA:158668
Incontinentia Pigmenti
Abnormality of skin pigmentation, Abnormal toenail morphology, Spina bifida occulta, Abnormality ... ORPHA:464
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract OMIM:618805
Holocarboxylase Synthetase Deficiency
Alopecia, Ataxia, Weight loss, Growth delay, Thrombocytopenia ORPHA:79242
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, ... ORPHA:2872
Lipoid Proteinosis
Scarring, Thickened skin, Hyperkeratosis, Dystonia, Alopecia of scalp, Verrucae ORPHA:530
Nanophthalmos 4
Microphthalmia OMIM:615972
Prieto Syndrome
Cryptorchidism, Inguinal hernia, Osteoporosis OMIM:309610
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cachexia, Weight loss, Macrovesicu... ORPHA:298
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Shashi-Pena Syndrome
Highly arched eyebrow, Kyphosis, Synophrys, Osteoporosis, Limb hypertonia, Long eyelashes, Scolio... OMIM:617190
Pemphigus Vulgaris
Urticaria, Recurrent cutaneous abscess formation, Weight loss, Acantholysis ORPHA:704
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Hypergranulosis, Acantholysis, Orthokeratosis, Growth delay, Palmoplanta... OMIM:615508
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Increased mean platelet volume, Menorrhagia, Thrombocytopenia OMIM:617443
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia, Ataxia, Joint stiffness, Kyphosis, Choreoa... ORPHA:702
Mycetoma
Back pain, Osteomyelitis, Abdominal mass, Pelvic mass, Abnormality of the lymphatic system, Bone ... ORPHA:2583
Acral Self-Healing Collodion Baby
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Lamellar Ichthyosis
Short stature, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Sparse hair, Dry skin, Abnorm... ORPHA:313
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Babinski sign, Acute myelomonocytic leukemia, Dysmetria, Anemia, Ankle clon... OMIM:159550
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma OMIM:274270
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Parakeratosis, Psoriasiform lesion, Scaling skin ORPHA:284426
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Cerebral palsy, Small for gestational age, Short stature, Highly arched eyebrow,... ORPHA:352490
Whipple Disease
Hepatomegaly, Generalized hyperpigmentation, Ataxia, Cachexia, Splenomegaly, Mediastinal lymphade... ORPHA:3452
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Perioral erythema, Erythroderma, Failure to thrive OMIM:614328
Hypomelanosis Of Ito
Macular hypopigmented whorls, streaks, and patches, Alopecia, Kyphosis, Scoliosis OMIM:300337
Schimke Immunoosseous Dysplasia
Osteopenia, Pancytopenia, Lumbar hyperlordosis, Small for gestational age, Hypermelanotic macule,... OMIM:242900
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Palmopla... OMIM:612843
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Lipoatrophy, Thin skin, Sparse hair, Intrauterine growth retardation, Failure to thrive, Hypopigm... ORPHA:261304
Aredyld
Generalized hypotrichosis OMIM:207780
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Corneal opacity, Short stature ORPHA:2370
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis, Short stature, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, En... OMIM:616029
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Hyperparathyroidism, Short stature, Osteomalacia, Recurrent fractures, Bone cyst, Osteo... ORPHA:93160
Rhabdoid Tumor
Renal neoplasm, Cerebral palsy, Weight loss, Anemia, Neoplasm of the central nervous system, Hemi... ORPHA:69077
Kniest Dysplasia
Cataract, Aplasia/Hypoplasia of the lens, Lens luxation ORPHA:485
Adams-Oliver Syndrome 4
Hypoplastic toenails, Microphthalmia, Toenail dysplasia OMIM:615297
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Short stature, Cryptorchidism, Cutis laxa, Athetosis, Thin skin, Scoliosis, Spar... OMIM:219150
Woodhouse-Sakati Syndrome
Osteopenia, Alopecia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth... ORPHA:3464
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis, Delayed puberty, Distichiasis, Anemia ORPHA:2598
Nodular Lymphocyte Predominant Hodgkin Lymphoma
B-cell lymphoma, Pruritus, Lymphoma, Breast carcinoma, Weight loss ORPHA:86893
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Cryptorchidism, Kyphos... OMIM:615381
Mucolipidosis Iv
Progressive neurologic deterioration, Corneal opacity, Opacification of the corneal stroma, Dystonia OMIM:252650
Omenn Syndrome
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, T... OMIM:603554
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Facial erythema, Vasculitis in the skin, Malar rash OMIM:620321
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Squamous cell carcinoma of the skin... OMIM:181600
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cac... ORPHA:37042
Proteus Syndrome
Central heterochromia, Neoplasm of the thymus, Abnormal form of the vertebral bodies, Abnormality... ORPHA:744
Pierpont Syndrome
Microcornea, Microphthalmia, High anterior hairline, Cryptorchidism ORPHA:487825
Distal Duplication 6P
Abnormal hair quantity, Cataract, Abnormal eyelash morphology, Fine hair, Aplasia/Hypoplasia affe... ORPHA:1745
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Osteopenia, Kyphoscoliosis, Atrophic scars, Follicular hyperkeratosis, Hernia, Joint hypermobility ORPHA:300179
Donohue Syndrome
Hypermelanotic macule, Postnatal growth retardation, Adipose tissue loss, Acanthosis nigricans, C... OMIM:246200
Edict Syndrome
Keratoconus, Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract OMIM:614303
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Hyperpigmentation of the skin, Scarring, Craniosynostosis, Erythema, Depigmentation/hyp... ORPHA:79396
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy... OMIM:304790
Restrictive Dermopathy
Osteopenia, Thoracic kyphoscoliosis, Multiple joint contractures, Short nail, Camptodactyly of fi... ORPHA:1662
Prader-Willi Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Hypopigmentation of the skin, ... OMIM:176270
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Osteopenia, Hypergonadotropic ... ORPHA:91
Desbuquois Syndrome
Severe short stature, Camptodactyly of finger, Short neck, Abnormal eyelash morphology, Joint hyp... ORPHA:1425
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Silver-Russell Syndrome
Abnormality of male external genitalia, Short stature, Failure to thrive in infancy, Cachexia, Hy... ORPHA:813
Premature Aging Syndrome, Penttinen Type
Failure to thrive, Lipoatrophy, Recurrent fractures, Thickened skin, Osteoporosis, Palmoplantar h... OMIM:601812
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Short stature, Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Irreg... ORPHA:264580
Braddock-Carey Syndrome 1
Curly hair, Hyperlordosis, Spastic diplegia, Growth delay, Camptodactyly, Sparse hair, Enamel hyp... OMIM:619980
Ichthyosis, X-Linked
Testicular neoplasm, Palmoplantar keratoderma, Opacification of the corneal stroma, Cryptorchidism OMIM:308100
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Short statu... OMIM:300998
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Short stature, Microcytic anemia, Flexion contracture, Failure to thrive, HbH hemoglobin, Aplasia... ORPHA:98791
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Acantholysis, Leukocytosis, Scaling skin, Neutropenia, Skin vesicle, ... ORPHA:293173
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Hereditary Acrokeratotic Poikiloderma
Short stature, Eczema, Telangiectasia of the skin, Abnormal preputium morphology, Pustule, Erythe... ORPHA:2907
X-Linked Creatine Transporter Deficiency
Short stature, Redundant skin, Cachexia, Ataxia, Chorea, Athetosis, Hypertonia, Dystonia ORPHA:52503
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Bilateral m... ORPHA:2399
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Ataxia,... ORPHA:363400
Cushing Disease
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Ecchymosis, Leu... ORPHA:96253
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Tremor, Splenomegaly, Rigidity, Dystonia, Intrauterine growth retardation, Thro... OMIM:615010
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Myoclonus, Thrombocytopenia, Inten... OMIM:610539
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Joint hypermobility, Postnatal growth retardation, Tremor, Synophrys, Prominent protruding coccyx... ORPHA:480907
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Short neck, Hypertonia, Sparse hair, Absent ... OMIM:115150
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Short stature, Cachexia, Short neck, Elbow flexion contracture, Spastic tetraple... ORPHA:371364
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashe... OMIM:258360
Estrogen Resistance Syndrome
Osteopenia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gon... ORPHA:785
Poikiloderma With Neutropenia
Joint laxity, Plantar hyperkeratosis, Short stature, Joint stiffness, Sparse eyebrow, Splenomegal... OMIM:604173
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, Short stature, External genital hypoplasia, Cryptorchidism, Growth del... ORPHA:1867
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Short stature, Subcutaneous hemorrhage, Cutis marmorata, Cachexia... ORPHA:109
Temtamy Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:1777
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, ... OMIM:269920
Dyskeratosis Congenita, X-Linked
Ridged nail, Oropharyngeal squamous cell carcinoma, Reticulated skin pigmentation, Pterygium of n... OMIM:305000
Polyarteritis Nodosa
Erythema, Cutis marmorata, Skin ulcer, Weight loss ORPHA:767
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Oropharyngeal squamous cell carcinoma, Yellow nails, Breast carcinoma, Ony... OMIM:614564
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Subcorneal Pustular Dermatosis
Pruritus, Erythema, Pustule, Multiple myeloma ORPHA:48377
Dermoodontodysplasia
Sparse scalp hair, Melanocytic nevus, Fingernail dysplasia, Thin skin, Trichodysplasia, Dry skin,... ORPHA:1660
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Thin bony cortex, Short stature, Interphalangeal joint contracture o... OMIM:259600
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Enamel hypoplas... OMIM:226650
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Flexion contracture, Acanthosis nigricans, Hepatomegaly, Alopecia, Lipodystrophy, Inc... OMIM:248370
Galactose Epimerase Deficiency
Growth delay, Jaundice, Cataract, Weight loss ORPHA:79238
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Temtamy Syndrome
Highly arched eyebrow, Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iri... OMIM:218340
Fanconi Anemia, Complementation Group E
Short stature, Anemic pallor, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorc... OMIM:600901
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Hypospadias, Cryptorchidism, Developmental cataract, Micropenis OMIM:618815
Urban-Rogers-Meyer Syndrome
Short stature, Camptodactyly of finger, Recurrent fractures, Short neck, Cryptorchidism, Kyphosis... ORPHA:3409
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair texture, Craniosyno... ORPHA:1520
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Absent inner eyelashes, Limbal dermoid, Microphthalmia, ... ORPHA:1791
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Cataract, Corneal opacity ORPHA:290
N Syndrome
Abnormality of chromosome stability, Hypospadias, Cryptorchidism, Neoplasm, Leukemia OMIM:310465
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Cerebral palsy, Small for gestational age, Short stature, Highly arched eyebrow,... OMIM:615834
Congenital Erythropoietic Porphyria
Osteopenia, Anisocytosis, Scarring alopecia of scalp, Squamous cell carcinoma, Leukopenia, Erythr... ORPHA:79277
Fanconi Anemia, Complementation Group G
Myelodysplasia, Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Iris transillumination defect, Coloboma, Microphthalmia OMIM:617306
Chilblain Lupus
Hyperkeratosis, Skin ulcer, Chronic myelomonocytic leukemia ORPHA:90280
Parastremmatic Dwarfism
Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis OMIM:168400
Fanconi Anemia, Complementation Group A
Male infertility, Short stature, Anemic pallor, Small for gestational age, Hypergonadotropic hypo... OMIM:227650
Singleton-Merten Syndrome 2
Osteopenia, Short stature, Psoriasiform lesion, Osteolytic defects of the phalanges of the hand, ... OMIM:616298
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Atrichia, Scaling skin, Periungual erythema, Dystrophic fingernails, Abs... OMIM:308205
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Short stature, Acanthosis nigricans, Secondary amenorrhea, Polycy... OMIM:268020
Geroderma Osteodysplastica
Beaking of vertebral bodies, Severe short stature, Redundant skin, Recurrent fractures, Osteoporo... ORPHA:2078
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Joint stiffness, Splenomegaly, Synophrys, Ovoid thoracolumbar vertebr... OMIM:252920
Frontonasal Dysplasia 1
Microphthalmia, Widow's peak, Cataract, Coloboma OMIM:136760
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Camurati-Engelmann Disease
Hepatomegaly, Ataxia, Cachexia, Hyperlordosis, Kyphosis, Abnormal subcutaneous fat tissue distrib... ORPHA:1328
Ane Syndrome
Alopecia, Multiple joint contractures, Lipoatrophy, Anterior pituitary hypoplasia, Decreased resp... ORPHA:157954
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Thymoma
Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Imbalanced hemoglobin synthesi... ORPHA:99867
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Osteoporosis ORPHA:2787
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Short stature, Congenital diaphragmatic hernia, Short neck, Polycystic ovaries, T... ORPHA:284180
Naxos Disease
Curly hair, Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Cardiom... OMIM:601214
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Curly hair, Sparse scalp hair, Inguinal hernia, Failure to thrive, Short stature, ... OMIM:607721
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation, Short stature ORPHA:1355
Menkes Disease
Chorea, Hypertonia, Hernia, Sparse hair, Intrauterine growth retardation, Thickened skin, Osteopo... ORPHA:565
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenails, Fine hai... ORPHA:1028
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Alopecia, Short stature, Recurrent fractures, Kyphoscoliosis, Growth delay, Basal cel... OMIM:163200
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Inguinal hernia, Small for gestational age, Short stature, Kyphosis, Reduced bone mineral density... OMIM:618392
Hatipoglu Immunodeficiency Syndrome
Inguinal hernia, Fair hair, Pancytopenia, Failure to thrive, Proportionate short stature, Hyperpi... OMIM:620331
Isolated Congenital Hypoglossia/Aglossia
Hamartoma, Weight loss ORPHA:141152
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Lowry-Maclean Syndrome
Osteopenia, Inguinal hernia, Congenital diaphragmatic hernia, Craniosynostosis, Bilateral cryptor... ORPHA:2409
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Epidermal acanthosis, Squamous cell carcinoma, Carcinoma, Palmoplantar keratoderma... OMIM:615225
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Short stature, Short neck, Hemivertebrae, Decreased fertility, Abnormal form o... ORPHA:2234
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelashes OMIM:300946
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Short stature, Dysmenorrhea, Postnatal growth retardation, Splenomegaly, Irregular ... ORPHA:79240
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long eyelashes, Mi... OMIM:615877
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, F... OMIM:619503
Infantile Systemic Hyalinosis
Osteopenia, Severe short stature, Camptodactyly of finger, Osteomalacia, Short neck, Recurrent fr... ORPHA:2176
46,Xx Gonadal Dysgenesis
Osteopenia, Streak ovary, Premature ovarian insufficiency, Short stature, Ataxia, Sparse pubic ha... ORPHA:243
Zimmermann-Laband Syndrome 2
Thick eyebrow, Short stature, Short neck, Kyphosis, Synophrys, Widow's peak, Long eyelashes, Anon... OMIM:616455
Gm1 Gangliosidosis
Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Generalized hirsutism, Short... ORPHA:354
Joubert Syndrome 37
Hepatomegaly, Lumbar hyperlordosis, Short stature, Cryptorchidism, Oculomotor apraxia, Obesity, S... OMIM:619185
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis... ORPHA:398079
Inherited Creutzfeldt-Jakob Disease
Astrocytosis ORPHA:282166
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Epidermal acanthosis, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria... OMIM:618527
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Failure to thrive, Epidermal acanthosis, Splenomegaly, Hypereosinoph... OMIM:617388
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Cataract ORPHA:93267
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Inguinal hernia, Short stature, Megaloblastic anemia, Abnormality of hair texture, Spastic tetrap... ORPHA:79351
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Alopecia, Progressive cervical vertebral spine fusion, Ectopic o... OMIM:135100
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Abnormal eyelash morphology, Abnormal hair morphology, Flexion contract... ORPHA:2671
Diamond-Blackfan Anemia
Pure red cell aplasia, Low anterior hairline, Reticulocytopenia, Leukopenia, Pallor, Neutropenia,... ORPHA:124
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Sparse eyebrow, Dry skin, Tetraplegia, Hyperkeratosis, Ichthyosis, Fa... OMIM:610768
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Developmental cataract, Small nail, Microphthalmia OMIM:614219
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Poliosis, Abnormal eyelash morphology, ... ORPHA:3437
Indolent Systemic Mastocytosis
Hepatomegaly, Hematological neoplasm, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased prop... ORPHA:98848
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis, Delayed puberty OMIM:615271
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Cryptorchidism, Sacral dimple, Umbilical hernia OMIM:273390
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent bacterial skin infections, Plantar hyperkeratosis, Diffuse palmoplantar hyperkeratosis,... ORPHA:495
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Skin rash, Cutis marmorata, Pustule, Erythema, Livedo reticularis, Telangiecta... OMIM:615934
Seckel Syndrome
Sparse scalp hair, Short stature, Abnormal dental enamel morphology, Cachexia, Craniosynostosis, ... ORPHA:808
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Rhizomelia, Kyphoscoliosis, Short neck, Sparse eyebrow, Postnatal growth retard... OMIM:302960
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Microphthalmia, Coloboma, Peters anomaly OMIM:618652
Osteoporosis
Osteoporosis OMIM:166710
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Neoplasm, Osteoporosis, Osteosarcoma OMIM:601811
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Palmoplantar keratoderma, Sparse hair, Dr... OMIM:618535
Bacterial Toxic-Shock Syndrome
Fasciitis, Osteomyelitis, Peritonitis, Elevated circulating creatinine concentration, Increased c... ORPHA:36234
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Hypopigmentation of hair, Short stature, Cryptorchidism, Kyphosis, Flexion contractur... ORPHA:398069
Bresek Syndrome
Alopecia, Cryptorchidism, Hemivertebrae, Growth delay, Scoliosis, Ichthyosis, Intrauterine growth... ORPHA:85284
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Joint laxity, Multiple joint contractures, Spinal rigidity, Overweight, Cryptorchidism, Scoliosis... ORPHA:486815
Acrokeratoelastoidosis Of Costa
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis, Orthokeratosi... ORPHA:38
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Ataxia, Kyphosis, Synophrys, Scoliosis, Hypertrichosis ORPHA:85317
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Neutrophilia, Leukocyt... OMIM:614204
Alstrom Syndrome
Hepatomegaly, Alopecia, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased respo... OMIM:203800
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Highly arched eyebrow, Abnormal sa... ORPHA:1807
Immunodeficiency 58
Psoriasiform lesion, Short stature, Atrophic scars, Scaling skin, Ichthyosis, Failure to thrive, ... OMIM:618131
Sandhoff Disease
Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Failure to thrive ORPHA:796
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe... OMIM:137940
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis,... ORPHA:371428
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Failure to thrive, Slow-growing hair, Trichorrhexis nodosa, Hyperkeratosi... ORPHA:238468
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Erythema ORPHA:79099
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Short stature, Ataxia, Abnormality of neutrophils, Abn... ORPHA:381
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea OMIM:233300
Focal Facial Dermal Dysplasia Type Iv
Scarring, Abnormal epidermal morphology, Hemiparesis, Hemangioma, Abnormal mast cell morphology ORPHA:398189
Gapo Syndrome
Alopecia, Sparse eyelashes, Dysmenorrhea, Short stature, Sparse eyebrow, Early balding, Hypopigme... ORPHA:2067
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demi... OMIM:600785
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Acantholysis, Absent eyelashes, Cardiomegaly, Absent toenail, Absent fingernail, ... ORPHA:158687
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia OMIM:152950
Pierpont Syndrome
Microcornea, Microphthalmia, High anterior hairline, Cryptorchidism OMIM:602342
Mixed Connective Tissue Disease
Hepatomegaly, Alopecia, Hemolytic anemia, Joint stiffness, Mediastinal lymphadenopathy, Splenomeg... ORPHA:809
Cantú Syndrome
Ovoid vertebral bodies, Curly eyelashes, Short neck, Cardiomegaly, Cuboid-shaped vertebral bodies... ORPHA:1517
Focal Facial Dermal Dysplasia 3, Setleis Type
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes OMIM:227260
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Hyperlordosis, Synophrys, Pal... ORPHA:3253
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Warburg Micro Syndrome 3
Cataract, Low anterior hairline, Developmental cataract, Microcornea, Shallow anterior chamber, M... OMIM:614222
Cockayne Syndrome
Dry hair, Congenital contracture, Progressive gait ataxia, Hypertonia, Intention tremor, Hepatome... ORPHA:191
Bruck Syndrome 1
Joint laxity, Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Elbow flexion ... OMIM:259450
Fixed Drug Eruption
Vaginal mucosal ulceration, Erythema, Crusting erythematous dermatitis, Generalized abnormality o... ORPHA:293812
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth... ORPHA:98754
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Inguinal hernia, Severe short stature, Femoral hernia, Abnormality of subcutaneous fa... ORPHA:1901
Focal Dermal Hypoplasia
Ridged nail, Linear hyperpigmentation, Brittle hair, Congenital diaphragmatic hernia, Absent fing... OMIM:305600
Giant Axonal Neuropathy
Babinski sign, Abnormal pituitary gland morphology, Scoliosis, Woolly hair, Spasticity, Joint hyp... ORPHA:643
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-... OMIM:271530
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Opisthotonus, Growth delay, Hypertonia, Methemoglobinemia OMIM:250800
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Flexion contracture, Babinski sign, Dystonia, Arthrogryposis mu... OMIM:618186
Satoyoshi Syndrome
Alopecia, Short stature, Osteolytic defects of the phalanges of the hand, Alopecia universalis, A... OMIM:600705
Fetal Parvovirus Syndrome
Intrauterine growth retardation, Thrombocytopenia, Anemia ORPHA:295
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Disproportionate short stature,... ORPHA:40
Warburg Micro Syndrome 4
Cryptorchidism, Low anterior hairline, Developmental cataract, Microcornea, Microphthalmia, Decre... OMIM:615663
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short stature, Sparse eyebrow, Dry ski... OMIM:129400
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Growt... ORPHA:98813
Recessive Dystrophic Epidermolysis Bullosa Inversa
Squamous cell carcinoma, Growth delay, Atrophic scars, Palmoplantar keratoderma, Basal cell carci... ORPHA:79409
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Erythema OMIM:613943
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Short stature, Hyperlordosis... ORPHA:3085
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Short stature, Palmoplantar keratoderma, Cirrhosis, Ichthyosis, Sparse hair, Failure to... OMIM:242150
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Myelodysplasia, Premature graying of hair, Anemia, Squamous cell carcinoma of the skin, Nail dyst... OMIM:620365
Tsh-Secreting Pituitary Adenoma
Osteopenia, Tremor, Pallor, Male hypogonadism, Periodic hypokalemic paresis, Hypogonadotropic hyp... ORPHA:91347
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Carpal synostosis, Short stature, Kyphoscoliosis, Advanced ossification... OMIM:615349
2Q32Q33 Microdeletion Syndrome
Short stature, Fine hair, Growth delay, Joint hyperflexibility, Sparse hair, Decreased testicular... ORPHA:251019
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Lipoatrophy, Dysmenorr... ORPHA:2348
Scarf Syndrome
Inguinal hernia, Craniosynostosis, Short neck, Cryptorchidism, Hepatocellular adenoma, Abnormal f... ORPHA:3134
Hutchinson-Gilford Progeria Syndrome
Alopecia, Absence of subcutaneous fat, Osteolysis, Growth delay, Generalized osteoporosis OMIM:176670
Aicardi-Goutieres Syndrome 1
Dystonia, Short stature, Chilblains, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechi... OMIM:225750
Rat-Bite Fever
Back pain, Abdominal aseptic abscess, Lymphadenitis, Oligoarthritis, Weight loss, Anemia, Arthrit... ORPHA:31205
Griscelli Syndrome Type 2
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Jaundice, L... ORPHA:79477
Sulfite Oxidase Deficiency, Isolated
Fine hair, Ectopia lentis OMIM:272300
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth... ORPHA:98793
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss ORPHA:2023
Reticular Dysgenesis
Abnormality of neutrophils, Skin ulcer, Weight loss, Leukopenia, Failure to thrive, Anemia ORPHA:33355
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Hemifacial Atrophy, Progressive
Kyphosis, Patchy alopecia, Ataxia, Poliosis OMIM:141300
Hepatoerythropoietic Porphyria
Osteopenia, Hemolytic anemia, Scarring, Scarring alopecia of scalp, Erythroid hyperplasia, Loss o... ORPHA:95159
Monosomy 18P
Alopecia, Generalized dystonia, Short stature, Kyphoscoliosis, Short neck, Low posterior hairline... ORPHA:1598
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Osteomyelitis, Eosinophilia, Spinal canal stenosis, Dry skin, Joint hypermobility OMIM:618282
Dermotrichic Syndrome
Proportionate short stature, Hyperconvex toenail, Aminoaciduria, Nail dystrophy, Ichthyosis, Abno... ORPHA:99688
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hyperkeratosis with erythema, Moderate postnatal growth retardation, Knee flexio... OMIM:118650
Fanconi Anemia, Complementation Group C
Short stature, Anemic pallor, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorc... OMIM:227645
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth... ORPHA:177904
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Short stature, Sparse eyebrow, Abnormal hair morphology, Fin... ORPHA:634
Noonan Syndrome 5
Curly hair, Short stature, Short neck, Sparse eyebrow, Cryptorchidism, Large for gestational age,... OMIM:611553
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth... ORPHA:177901
Fg Syndrome 3
Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture OMIM:300406
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Sea-Blue Histiocyte Disease
Splenomegaly, Sea-blue histiocytosis, Cirrhosis, Absent axillary hair, Thrombocytopenia OMIM:269600
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Pallor, Anemia ORPHA:163596
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Short stature, Postnatal growth retardation, Fine hair, Long eyelashes, High anterior hairline ORPHA:231137
Leopard Syndrome 2
Curly hair, Short stature, Short neck, Dry skin, Multiple lentigines, Webbed neck, Cafe-au-lait spot OMIM:611554
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Abnormality of skin pigmentation, Thin skin, Sparse hair, Sparse ... ORPHA:1810
De Barsy Syndrome
Osteopenia, Inguinal hernia, Lipodystrophy, Short stature, Kyphoscoliosis, Postnatal growth retar... ORPHA:2962
Gm1-Gangliosidosis, Type I
Hepatomegaly, Inguinal hernia, Severe short stature, Short neck, Joint stiffness, Kyphosis, Splen... OMIM:230500
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Synophrys, Joint laxity, Short stature, Cryptorchidism, Osteoporosis, Umb... OMIM:102500
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
3-Methylglutaconic Aciduria, Type Viib
Cataract, Zonular cataract OMIM:616271
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Restrictive Dermopathy 1
Sparse eyelashes, Short nail, Limb joint contracture, Kyphoscoliosis, Absent eyelashes, Sparse ey... OMIM:275210
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema, Burkitt lymphoma, Disseminated cutaneous warts OMIM:618307
Noonan Syndrome 14
Curly hair, Lymphopenia, Short stature, Short neck, Sparse eyebrow, Cryptorchidism, Kyphosis, Low... OMIM:619745
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Severe short stature, Osteoporosis OMIM:204730
Behcet Syndrome
Genital ulcers, Erythema nodosum, Erythema, Epididymitis, Irritability, Iritis, Hypopyon OMIM:109650
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Ataxia, Cachexia, Cardiomegaly, Distal arthrogryposis, Hepatic steatosis ORPHA:42
Ichthyosis Prematurity Syndrome
Alopecia of scalp, Epidermal acanthosis, Generalized ichthyosis, Follicular hyperkeratosis OMIM:608649
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Hurler-Scheie Syndrome
Hepatomegaly, Inguinal hernia, Short stature, Camptodactyly of finger, Joint stiffness, Contractu... OMIM:607015
Wilson Disease
Back pain, Hepatomegaly, Abnormality of the menstrual cycle, Thrombocytopenia, Splenomegaly, Jaun... ORPHA:905
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Splenomegaly, Abnormal form of the vertebral bodies, Abnormal cortical... ORPHA:1802
Monosomy 22
Aplasia of the thymus, Short neck, Thickened skin, Synophrys, Schwannoma, Hypochromic microcytic ... ORPHA:96123
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Redundant neck skin, Lipodystrophy, Thick hair, Redundant skin, Short stature, P... ORPHA:357074
Hjv Or Hamp-Related Hemochromatosis
Generalized hyperpigmentation, Congenital hepatic fibrosis, Osteoporosis, Abnormality of endocrin... ORPHA:79230
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia OMIM:612126
Tonne-Kalscheuer Syndrome
Short stature, Congenital diaphragmatic hernia, Concave nail, Tremor, Cryptorchidism, Blue irides... OMIM:300978
Wagro Syndrome
Decreased testicular size, Cataract, Corneal opacity, Multiple exostoses, Obesity, Low frustratio... OMIM:612469
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Hyperkera... OMIM:608013
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lower limb spasticity, Lumbar hyperlordosis, Short stature, Ataxia, Kyphosis, Obesity, Scoliosis,... OMIM:616756
Macrocephaly/Autism Syndrome
Speech apraxia, Hepatomegaly, Joint laxity, Large for gestational age, Splenomegaly, Obesity, Cut... OMIM:605309
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Hyperkeratosis lenticularis perstans, Skin ulcer, Squamous cell carcinoma ORPHA:409
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Congenital diaphragmatic hernia, Short neck, Cardiomegaly, Short stature, Rhizomelia,... OMIM:245600
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Sparse eyebrow, Elbow flexion contracture, Corneal scarring, Absent... OMIM:148210
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve... OMIM:300869
Bazex-Dupre-Christol Syndrome
Hyperpigmentation of the skin, Joint hypermobility, Coarse hair, Basal cell carcinoma, Sparse hai... OMIM:301845
Desbuquois Dysplasia 1
Joint laxity, Severe short stature, Hyperlordosis, Short neck, Kyphosis, Osteoarthritis, Osteopor... OMIM:251450
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia ORPHA:318
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Short neck, Thrombocytopenia, Synophrys, Flexion contracture, Low anterior hairline... OMIM:617303
Spinocerebellar Ataxia, Autosomal Recessive 20
Hepatomegaly, Ataxia, Kyphoscoliosis, Splenomegaly, Babinski sign, Scoliosis, Camptodactyly, Spas... OMIM:616354
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Osteopenia, Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Premature... OMIM:614742
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Neutrophilia, Epidermal acanthosis, Failure to thrive in infancy, Osteo... OMIM:612852
Leigh Syndrome
Multiple joint contractures, Chorea, Choreoathetosis, Neutropenia, Frontal hirsutism, Alopecia, A... ORPHA:506
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Hennekam-Beemer Syndrome
Short stature, Telangiectasia of the skin, Pruritus, Erythema, Urticaria, Irritability, Skin vesi... ORPHA:2135
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Widow's peak, Coloboma, Microphthalmia, Conjunctival hyperemia OMIM:167730
Diamond-Blackfan Anemia 6
Macrocytic anemia, Patent ductus arteriosus, Persistence of hemoglobin F, Growth delay, Increased... OMIM:612561
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis OMIM:609638
Short Syndrome
Alopecia, Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Severe short stature... ORPHA:3163
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Cataract, Coloboma, Abnormally large globe OMIM:615249
Oculocerebrocutaneous Syndrome
Microphthalmia, Alopecia, Anophthalmia, Cryptorchidism OMIM:164180
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipoatrophy, Dysmenorrhea, Splenomega... ORPHA:79083
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Abnormal dental enamel morphology, ... ORPHA:79430
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Low back pain, Alopecia, Ataxia, Rigidity, Babinski sign, Abnormal pyramidal sign, Gait apraxia, ... OMIM:600142
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Synophrys, Achilles tendon contra... OMIM:620351
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Thoracolumbar sco... OMIM:313420
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hypertonia, Hepatic fibrosis, Ecchymosis, Paralysis, Skin ulcer, Hepat... ORPHA:2072
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma, Iris coloboma, Generalized hirsutism ORPHA:1553
Warburg Micro Syndrome 2
Cataract, Cryptorchidism, Low anterior hairline, Developmental cataract, Microcornea, Microphthalmia OMIM:614225
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia, Ichthyosis OMIM:242510
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Ifap Syndrome 2
Cataract, Keratitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Sparse hair OMIM:619016
Chronic Mucocutaneous Candidiasis
Dyspareunia, Skin rash, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Abnormal vagina morphology ORPHA:1334
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Slow-growing hair, Short stature, Short neck, Abnormal hair morphology, Cryptorchidism, Kyphosis,... ORPHA:3082
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... ORPHA:95619
Pseudopseudohypoparathyroidism
Short stature, Short neck, Osteoporosis, Obesity, Pseudohypoparathyroidism, Enamel hypoplasia OMIM:612463
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Parakeratosis, Epidermal acanthosis, Short stature, Erythema, Flexion contracture, Hype... OMIM:308050
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Brittle hair, Ataxia, Cholangitis, Microvesicular hepatic steatosis, Cholestasi... OMIM:124000
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Adrenal hyperplasia, Kyphosis, Osteoporosis, Truncal obesity, Neoplasm, Macronodular ... OMIM:219080
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Hypergonadotropic hypogonadism, Dysmenorrhea, Elevated circulating lut... ORPHA:90796
Mpdu1-Cdg
Hypertonia, Scaling skin, Ichthyosis ORPHA:79323
Renpenning Syndrome 1
Brittle hair, Short stature, Scoliosis, Camptodactyly, Sparse hair, Synostosis of the proximal ph... OMIM:309500
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa ORPHA:79148
Spastic Paraplegia 46, Autosomal Recessive
Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Hand tremor, Ankle clonus, Up... OMIM:614409
Fanconi Anemia, Complementation Group D2
Short stature, Anemic pallor, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorc... OMIM:227646
Wieacker-Wolff Syndrome
Dystonia, Short stature, Short neck, Hyperlordosis, Kyphosis, Spasticity, Congenital foot contrac... OMIM:314580
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Postnatal growth... OMIM:612394
Dpagt1-Cdg
Hepatomegaly, Lipodystrophy, Ataxia, Tremor, Thickened skin, Flexion contracture, Osteoporosis, H... ORPHA:86309
Sandestig-Stefanova Syndrome
Laterally extended eyebrow, Highly arched eyebrow, Developmental cataract, Microphthalmia, Sparse... OMIM:618804
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis, Epidermal acanthosis ORPHA:199267
Wilson Disease
Hepatocellular carcinoma, Tremor, Osteoarthritis, Hand tremor, Aminoaciduria, Limb dystonia, Hepa... OMIM:277900
Gand Syndrome
Sparse hair OMIM:615074
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Ataxia, Abnormality of skin pigmentation, Nail dystrophy, Bone marrow hypocellularity, ... OMIM:616353
Farber Disease
Failure to thrive, Intrahepatic cholestasis with episodic jaundice, Short stature, Thrombocytopen... ORPHA:333
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Cryptorchidism, Fine hair, Hypogonadism, Intrauterine growth retardation, Coronal crani... ORPHA:228390
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Nail pits, Melanocytic nevus, ... ORPHA:978
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair, Microphthalmia, Cataract OMIM:614105
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Ivory epiphyses of the distal phalanges of the hand, Slow-growing hair, Thin nail, Sh... OMIM:190350
Rett Syndrome
Dystonia, Short stature, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia... OMIM:312750
Congenital Fibrinogen Deficiency
Microphthalmia, Abnormality of the subungual region, Decreased testicular size, Developmental cat... ORPHA:335
Noonan Syndrome 9
Sparse eyebrow, Cryptorchidism, Curly hair, Prominent corneal nerve fibers OMIM:616559
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Flexion contracture, Limi... ORPHA:90153
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Neuroendocrine neoplasm, Neoplasm of the larynx, Weight loss ORPHA:100083
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc... OMIM:615387
Hall-Riggs Syndrome
Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Short stature, Joint stiffness,... ORPHA:2107
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Tremor, Osteoporosis, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:529665
Papillon-Lefèvre Syndrome
Liver abscess, Abnormal fingernail morphology, Cigarette-paper scars, Hypopigmented skin patches,... ORPHA:678
Congenital Short Bowel Syndrome
Sparse hair, Lipoatrophy, Short stature ORPHA:2301
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Warty Dyskeratoma
Vulvar neoplasm, Abnormal fingernail morphology, Acrokeratosis, Acantholysis, Epidermal thickenin... ORPHA:69745
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Multiple cafe-au-lait spots, Hy... ORPHA:2316
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Inguinal hernia, Short stature, Craniosynostosis, Absent eyelashes, Cry... ORPHA:166035
Cdkl5-Deficiency Disorder
Growth delay, Kyphosis, Synophrys, Scoliosis ORPHA:505652
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Neutropenia, Sparse hair, Intrauterine growth retardation, Spasticity,... OMIM:618253
Prader-Willi Syndrome
Osteopenia, Hypopigmentation of hair, Short stature, Decreased response to growth hormone stimula... ORPHA:739
Adams-Oliver Syndrome
Alopecia, Failure to thrive, Portal hypertension, Congenital hepatic fibrosis, Aplastic/hypoplast... ORPHA:974
Pontocerebellar Hypoplasia, Type 2E
Short stature, Flexion contracture, Osteoporosis, Spastic tetraplegia, Opisthotonus, Hypertonia, ... OMIM:615851
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma, Bilateral microphthalmos, Unilateral microphthalmos, Hirsutism OMIM:619318
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Hypopigmentation of hair, Short stature, Splenomegaly, Growth delay, Osteopetrosis,... OMIM:618541
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Steatocystoma multiplex, P... OMIM:167210
Myopathy, Mitochondrial, And Ataxia
Short stature, Thick hair, Ataxia, Tremor, Primary amenorrhea, Dysmetria, Growth delay, Multiple ... OMIM:617675
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Appendicular spasticity, Cerebral palsy, Flexion contracture, Sparse hair, Failure to thrive OMIM:620001
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Failure to thrive, Splenomegaly, Patent ductus arteriosus, Growth delay, Hyperkerat... OMIM:614576
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Highly arched eyebrow OMIM:609384
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Short stature, Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose... OMIM:617404
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Anisocytosis, Anemia of ina... OMIM:224120
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Short stature, Obesity, Hypopigmentation... ORPHA:177910
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Remnants... ORPHA:649
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, ... OMIM:253220
Adrenoleukodystrophy
Alopecia, Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Impotence... OMIM:300100
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Metacarpal osteolysi... ORPHA:2774
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Joint laxity, Juvenile myelomonocytic leukemia, Failure to thrive, Short stature, Highly arched e... OMIM:613563
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Short stature, Ataxia, Cryptorchidism, Acanthosis nigricans, Dysmetria, Truncal ... OMIM:616541
Geroderma Osteodysplasticum
Beaking of vertebral bodies, Osteopenia, Hyperextensibility of the finger joints, Severe short st... OMIM:231070
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Alopecia, Ichthyosis OMIM:618840
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Short stature, Curly eyelashes, Short neck, Cryptorchidism, Multiple rows of eyelashe... ORPHA:163654
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Redundant skin, Seborrheic dermatitis, Patent ductus arteriosus, Erythema, Palmoplantar hyperkera... OMIM:259100
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Kyphoscoliosis, Shor... OMIM:309583
Mogs-Cdg
Hepatomegaly, Alopecia, Thoracic scoliosis, Cardiomegaly, Thrombocytopenia, Hepatosplenomegaly, H... ORPHA:79330
Familial Benign Copper Deficiency
Early balding, Short stature, Anemia ORPHA:1551
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Thickened skin, Hyperkeratosis, Basal cell carcinoma, Squamou... ORPHA:79431
Neonatal Lupus Erythematosus
Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Parakeratosis, Thrombocytopenia, S... ORPHA:398124
Tuberculosis
Weight loss ORPHA:3389
Noonan Syndrome 2
Curly hair, Short stature, Short neck, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Hy... OMIM:605275
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cataract, Skin rash, Generalized dystonia, Erythema, Irritability, Dystonia OMIM:618321
Even-Plus Syndrome
Severe short stature, Highly arched eyebrow, Short neck, Synophrys, Vertebral clefting, Coronal c... OMIM:616854
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Short stature, Hyperlordosis, Tremor, Cryptorchidism, Limitation of joint mobility, Hypertonia, A... ORPHA:1192
Juvenile Polyposis Of Infancy
Refractory anemia, Subcutaneous lipoma, Short stature, Cachexia, Patent ductus arteriosus, Hamart... ORPHA:79076
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Osteopenia, Pancytopenia, Dystonia, Ataxia, Portal hypertension, Premature graying of hair, Growt... OMIM:617341
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Small for gestational age, Short statu... OMIM:260400
Nail-Patella Syndrome
Back pain, Flexion contracture, Knee flexion contracture, Reduced bone mineral density, Abnormali... ORPHA:2614
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Osteoporosis, Scolio... OMIM:613849
Mucopolysaccharidosis, Type Iva
Joint laxity, Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, G... OMIM:253000
Free Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive in infancy, Ataxia, Splenomegaly, Abnormal pyramidal sign, Skin u... ORPHA:834
Koolen-De Vries Syndrome
Vertebral fusion, Hypopigmentation of hair, Short stature, Abnormal dental enamel morphology, Abn... ORPHA:96169
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Necrolytic migratory erythema, Cholelithiasis, Glucagonoma ORPHA:438274
Cockayne Syndrome A
Dry hair, Tremor, Ivory epiphyses of the phalanges of the hand, Abnormality of skin pigmentation,... OMIM:216400
Johanson-Blizzard Syndrome
Alopecia, Short stature, Abnormal hair pattern, Abnormality of the pancreas, Intrauterine growth ... ORPHA:2315
Trisomy 18
Cataract, Short stature, Cachexia, Cryptorchidism, Microcornea, Growth delay, Cognitive impairmen... ORPHA:3380
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:615524
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Short stature, Clonus, Spastic tetraparesis, Babinski sign, Severe failure to thrive, Intrauterin... ORPHA:423479
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture, Spastic tetraplegia, Dystonia, Intrauterine growth retardation, Fa... OMIM:618237
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Angioedema, Erythema, Weight loss, Erythroderma ORPHA:139402
Schwannomatosis, Vestibular
Juvenile posterior subcapsular lenticular opacities, Cortical cataract OMIM:101000
Bone Dysplasia, Lethal Holmgren Type
Redundant neck skin, Rhizomelia, Patent ductus arteriosus, Weight loss, Severe short-limb dwarfis... ORPHA:1842
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Cole Disease
Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:615522
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Ataxia, Kyphosis, Synophrys, Scoliosis, Hirsutism OMIM:300861
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Kyphoscoliosis, Sparse eyebrow, Synophrys, Hyposegmentation of neutrophil nuclei, Spa... OMIM:620075
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Corneal erosion, Cataract, Erythema OMIM:614878
Autosomal Recessive Cutis Laxa Type 2A
Corneal opacity, Progeroid facial appearance, Postnatal growth retardation, Excessive wrinkled sk... ORPHA:357058
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Short stature, Abnormal hair morphology, Osteolysis, Generalized lipodystrophy, Nail dy... ORPHA:90154
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Zonular cataract ORPHA:168577
Immunodeficiency 23
Eczema, Erythema, Hodgkin lymphoma, Chronic mucocutaneous candidiasis, Vasculitis in the skin, Mo... OMIM:615816
Borjeson-Forssman-Lehmann Syndrome
Decreased testicular size, Short stature, Cryptorchidism, Truncal obesity, Joint hyperflexibility... ORPHA:127
Noonan Syndrome 4
Curly hair, Short stature, Short neck, Sparse eyebrow, Cryptorchidism, Large for gestational age,... OMIM:610733
Focal Dermal Hypoplasia
Corneal opacity, Telangiectasia of the skin, Ectopia lentis, Patent ductus arteriosus, Erythema, ... ORPHA:2092
Diamond-Blackfan Anemia 21
Short stature, Erythroid hypoplasia, Synophrys, Widow's peak, Thrombocytopenia, Obesity, Coarse h... OMIM:620072
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Skin ulcer, Weight ... ORPHA:507
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Dysmenorrhea, Acroosteolysis of distal phalanges (feet), Premature graying of hair, Increased int... ORPHA:280365
Gomez-Lopez-Hernandez Syndrome
Alopecia, Short stature, Decreased response to growth hormone stimulation test, Ataxia, Craniosyn... OMIM:601853
Immunoglobulin A Vasculitis
Skin rash, Pustule, Orchitis, Angioedema, Erythema, Skin ulcer, Urticaria, Bruising susceptibilit... ORPHA:761
Infantile Krabbe Disease
Psychomotor deterioration, Progressive neurologic deterioration, Cachexia, Opisthotonus, Irritabi... ORPHA:206436
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Short stature, Short neck, Low anterior hairline, Abnormal form of the vertebra... ORPHA:1787
Chromosome 19Q13.11 Deletion Syndrome, Distal
Reduced subcutaneous adipose tissue, Inguinal hernia, Failure to thrive, Sparse eyelashes, Short ... OMIM:613026
Noonan Syndrome 7
Curly hair, Short stature, Short neck, Large for gestational age, Low posterior hairline, Growth ... OMIM:613706
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Zellweger Syndrome
Failure to thrive, Cataract, Corneal opacity, Short stature, Hypospadias, Brushfield spots, Crypt... ORPHA:912
Odontochondrodysplasia 1
Biconvex vertebral bodies, Short stature, Osteoporosis, Coronal cleft vertebrae, Platyspondyly, M... OMIM:184260
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Snakebite Envenomation
Hypopituitarism, Ecchymosis, Angioedema, Erythema ORPHA:449285
Microphthalmia, Isolated 8
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia OMIM:615113
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Postnatal growth ... ORPHA:453533
Dowling-Degos Disease
Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin... ORPHA:79145
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Joint laxity, Short stature, Hyperconvex nail, Scoliosis, Sparse hair, Thoracic hemivertebrae, Fa... OMIM:619721
Felty Syndrome
Hepatomegaly, Generalized hyperpigmentation, Cellulitis, Thrombocytopenia, Splenomegaly, Lymphoma... ORPHA:47612
Difference Of Sex Development-Intellectual Disability Syndrome
Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low posterior hairline, Reduced bone mine... ORPHA:2983
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Short stature, Decreased fertility, Secondary amenorrhea, Polycyst... ORPHA:1643
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Alopecia, Chronic active hepatitis, Premature ovarian insufficiency, Female h... OMIM:240300
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Kyphosis, Osteoporosis, Ovarian cyst, Truncal obesity, Thin skin, Pancreatitis, Stria... OMIM:610475
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the lymphatic syste... ORPHA:69735
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Erythema, Palmoplantar keratoderma OMIM:606545
Lelis Syndrome
Yellow nails, Perioral hyperpigmentation, Acanthosis nigricans, Absent lower eyelashes, Palmoplan... ORPHA:140936
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Increased bone mineral density, Recurrent fractures, Splenomegaly,... OMIM:611490
Kury-Isidor Syndrome
Sacral dimple, Alopecia, Short neck, Growth delay, Scoliosis, Hypertrichosis OMIM:619762
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Stuve-Wiedemann Syndrome 1
Short stature, Ovoid vertebral bodies, Short neck, Elbow flexion contracture, Osteoporosis, Patho... OMIM:601559
Intestinal Dysmotility Syndrome
Failure to thrive, Cataract, Weight loss OMIM:620045
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, N... ORPHA:172
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Embryonal rhabdomyosarcoma, Hyperkeratosis, Multiple enchondromatosis, Adenocarcin... OMIM:620189
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Trisomy 13
Anophthalmia, Cataract, Abnormal eyelash morphology, Cryptorchidism, Aplasia/Hypoplasia of the ir... ORPHA:3378
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Lower limb spasticity, Hyperlordosis, Kyphosis, Achilles tendon contracture, Bab... OMIM:615290
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Short stature, Camptodactyly of finger, Cryptorchidism, Patchy alopecia, Multiple cafe-au-lait sp... ORPHA:85279
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Osteoporosis, Growth delay, Camptodacty... OMIM:616006
Knobloch Syndrome 1
Band keratopathy, Phthisis bulbi, Developmental cataract, Iris transillumination defect, Macular ... OMIM:267750
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel... ORPHA:276152
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Dystonia 28, Childhood-Onset
Torticollis, Short stature, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spa... OMIM:617284
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Ataxia, Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Pigmenta... OMIM:560000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Cataract, Sutural cataract, Highly arched eyebrow, Frontal balding, Synophrys, Nuclear pulverulen... OMIM:612474
Rere-Related Neurodevelopmental Syndrome
Cryptorchidism, Astigmatism, Chorioretinal coloboma, Peters anomaly, Microphthalmia, Iris colobom... ORPHA:494344
Bruck Syndrome
Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoli... ORPHA:2771
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Ataxia, Congenital nonbullous ichthyosiform erythroderma, Hepatic steatosis OMIM:275630
4Q21 Microdeletion Syndrome
Short neck, Tremor, Kyphosis, Synophrys, Growth delay, Long eyelashes, Scoliosis, Intrauterine gr... ORPHA:238750
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin, Ichthyosis OMIM:146700
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Nail dystrophy, Anemia OMIM:618165
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Persistence of hemoglobin F, Increased mean corpuscular vol... OMIM:610629
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,... OMIM:615300
Noonan Syndrome 10
Curly hair, Left ventricular hypertrophy, Short stature, Short neck, Sparse eyebrow, Cryptorchidi... OMIM:616564
Pediatric Systemic Lupus Erythematosus
Alopecia, Lymphadenopathy, Leukopenia, Ascites, Arthritis, Microangiopathic hemolytic anemia, Hem... ORPHA:93552
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short stature, Camptodactyly OMIM:618453
15Q24 Microdeletion Syndrome
Joint laxity, Small for gestational age, Decreased response to growth hormone stimulation test, C... ORPHA:94065
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Kyphoscoliosis, Short neck, Tremor, Flexion contr... OMIM:300055
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Ataxia, Oculomotor apraxia, Dysmetria, Dystonia, Sparse hair, Spasticity, Hirsutism, Limb hypertonia OMIM:618087
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Epidermal acanthosis, Verrucae, Squamous cell carcinoma OMIM:618267
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Short stature, Dentinogenesis imperfecta, Osteoporosis ORPHA:71267
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility OMIM:618323
Mucolipidosis Type Ii
Dry hair, White hair, Knee flexion contracture, Short stature, Thickened skin, Limited shoulder m... ORPHA:576
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Sclerocornea, Cryptorchidism, Microphthalmia, Iris coloboma ORPHA:77298
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Joint laxity, Spinal rigidity, Follicular hyperkeratosis, Scoliosis, Joint contracture, Dry skin OMIM:617066
Scarf Syndrome
Inguinal hernia, Short neck, Cryptorchidism, Low anterior hairline, Abnormal form of the vertebra... OMIM:312830
Neonatal Inflammatory Skin And Bowel Disease
Psoriasiform dermatitis, Erythema, Horizontal eyebrow, Scaling skin, Slow-growing scalp hair, Chr... ORPHA:294023
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Growth delay, Urticaria, Acrocyanosis, Purpura ORPHA:343
Progressive Non-Fluent Aphasia
Astrocytosis ORPHA:100070
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Inguinal hernia, Short stature, Ataxia, Cryptorchidism, Limitation of j... ORPHA:2719
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H... OMIM:607823
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Short stature, Scoliosis, Sparse hair, Sparse lateral eyebrow OMIM:190351
Borjeson-Forssman-Lehmann Syndrome
Short stature, Cryptorchidism, Kyphosis, Obesity, Scoliosis, Delayed puberty, Scheuermann-like ve... OMIM:301900
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Renal neoplasm, Osteoporosis, Scoliosis, Tracheomalacia,... ORPHA:536467
Mucopolysaccharidosis, Type Ivb
Joint laxity, Hepatomegaly, Inguinal hernia, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Grayi... OMIM:253010
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
Satoyoshi Syndrome
Short stature, Hyperlordosis, Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of... ORPHA:3130
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Short stature, Ataxia, Kyphosis, Tongue fasciculations, Failure to thrive OMIM:620007
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia, Abnormal form of the vertebra... ORPHA:93941
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Primary amenorrhea, Decreas... OMIM:610628
Bethlem Myopathy 2
Kyphosis, Distal joint laxity, Flexion contracture, Atrophic scars, Scoliosis OMIM:616471
Smith-Kingsmore Syndrome
Curly hair, Rhizomelia, Large for gestational age, Cryptorchidism, Umbilical hernia, Cafe-au-lait... OMIM:616638
Riddle Syndrome
Conjunctival telangiectasia, Short stature, Erythema, Telangiectasia, Weight loss, Chromosomal br... ORPHA:420741
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Blue irides, Spinal canal stenosis, Obesity, Advanced ossification of carpal bone... OMIM:614613
Erythrocytosis, Familial, 2
Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Hemangioma, Failure to... OMIM:263400
Juvenile Huntington Disease
Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:248111
Weill-Marchesani Syndrome 1
Shallow anterior chamber, Microspherophakia, Ectopia lentis, Cataract OMIM:277600
Chronic Hiccup
Depression, Weight loss ORPHA:396
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Vulto-Van Silfhout-De Vries Syndrome
Joint laxity, Sacral dimple, Widow's peak, Fine hair, Horizontal eyebrow OMIM:615828
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Infancy onset short-trunk short stature, Short stature, Thoraco... ORPHA:1159
Kapur-Toriello Syndrome
Cataract, Cryptorchidism, Low posterior hairline, Retinal coloboma, Microphthalmia, Iris coloboma OMIM:244300
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Short stature, Thoracolumbar kyphoscoliosis, Short neck, Postnatal growth retardation... OMIM:212066
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Short stature, Osteoporosis, Increased susceptibility to fractures ORPHA:2788
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Short neck, Hypoplastic toenails, Reduced bone mineral density, Hyperconvex fingernai... ORPHA:99413
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Mosaic Monosomy X
Osteopenia, Short neck, Hypoplastic toenails, Reduced bone mineral density, Hyperconvex fingernai... ORPHA:99228
Monosomy X
Osteopenia, Short neck, Hypoplastic toenails, Reduced bone mineral density, Hyperconvex fingernai... ORPHA:99226
Turner Syndrome
Osteopenia, Short neck, Hypoplastic toenails, Reduced bone mineral density, Hyperconvex fingernai... ORPHA:881
Ataxia-Telangiectasia
Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Intention tremor, Short sta... OMIM:208900
Roifman Syndrome
Hip contracture, Biconvex vertebral bodies, Hepatomegaly, Short stature, Eosinophilia, Postnatal ... OMIM:616651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation... OMIM:256710
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Sacral dimple, Ataxia, Joint hypermobility, Short neck, Postnatal growth retardation,... OMIM:300966
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Osteoporosis, Growth delay, Increased mean corpuscular volume, Sco... OMIM:612562
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Ataxia, Thick hair, Splenomegaly, Cirrhosis, Failure to thrive, Limb hypertonia OMIM:613489
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Alopecia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytope... ORPHA:227990
Occipital Horn Syndrome
Joint laxity, Redundant skin, Pelvic bone exostoses, Hiatus hernia, Kyphosis, Capitate-hamate fus... OMIM:304150
Amed Syndrome, Digenic
Acute myeloid leukemia, Short stature, Myelodysplasia, Anemia, Leukopenia, Failure to thrive, Thr... OMIM:619151
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Coloboma, Microphthalmia, Megaloco... ORPHA:370959
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly OMIM:614526
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid... ORPHA:42775
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop... ORPHA:2885
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Short stature, Rhizomelia, Short neck, Kyphosis, Limitation of joint mobi... ORPHA:3098
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Cryptorchidism, Osteoporosis, Primary amenorrhea, Small pituitary gland, Decreased te... OMIM:614880
Complex Regional Pain Syndrome
Erythema, Allodynia, Dry skin ORPHA:83452
Stormorken-Sjaastad-Langslet Syndrome
Short stature, Asplenia, Ichthyosis, Anemia, Purpura ORPHA:3204
Mucoepithelial Dysplasia, Hereditary
Alopecia, Cataract, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Opacification of the corne... OMIM:158310
Ogden Syndrome
Inguinal hernia, Torticollis, Postnatal growth retardation, Cryptorchidism, Cutis laxa, Fine hair... ORPHA:276432
Juvenile Dermatomyositis
Skin rash, Telangiectasia of the skin, Pruritus, Erythema, Skin ulcer, Weight loss, Cutaneous pho... ORPHA:93672
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis, Frequent falls OMIM:300718
Trisomy 20P
Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Reduced bone mineral de... ORPHA:261318
Brittle Cornea Syndrome
Osteoporosis, Abnormality of hair pigmentation, Corneal scarring, Increased susceptibility to fra... ORPHA:90354
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Osteopenia, Alopecia, Widened atrophic scar, Inguinal hernia, Redundant skin, Tho... ORPHA:536532
Oculofaciocardiodental Syndrome
Cataract, Highly arched eyebrow, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma ORPHA:2712
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... OMIM:600175
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Alopecia, Short stature, Ataxia, Micronodular cirrhosis, Obesity, Abnormal granuloc... ORPHA:98907
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Cryptorchidism, Kyphosis, Frontal upsweep of hair, Scoli... OMIM:619797
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Ataxia, Abnorm... OMIM:214500
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis, Nail dystrophy OMIM:175900
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Alopecia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyro... ORPHA:227982
Proximal 16P11.2 Microduplication Syndrome
Sparse eyelashes, Short stature, Congenital diaphragmatic hernia, Sparse eyebrow, Tremor, Hemiver... ORPHA:370079
Dubowitz Syndrome
Abnormality of neutrophils, Hypoplastic toenails, Low anterior hairline, Abnormality of skin pigm... ORPHA:235
Occipital Horn Syndrome
Osteopenia, Coarse hair, Femoral hernia, Scarring, Osteomalacia, Hiatus hernia, Osteoporosis, Hep... ORPHA:198
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Kyphoscoliosis, Osteoporosis, Growth delay, Intrauterine growth retard... ORPHA:447980
X Small Rings
Joint laxity, Premature ovarian insufficiency, Short neck, Osteoporosis, Primary amenorrhea, Low ... ORPHA:96201
Gardner Syndrome
Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Hepatoblastoma, Pilomatrixoma, Adrenocorti... ORPHA:79665
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Alopecia totalis, Normochromic anemia, Intrauterine growth retardation... OMIM:618775
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity, Alopecia, Abnormal vertebral morphology, Supernumerary nipple ORPHA:3224
Harel-Yoon Syndrome
Dystonia, Corneal opacity, Developmental cataract OMIM:617183
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Generalized dystonia, Ataxia, Chorea, Spasticity, Failure to thrive, He... ORPHA:70472
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Short stature, Sparse eyebrow OMIM:619989
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Insulin-Resistance Syndrome Type B
Alopecia, Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Thrombocytop... ORPHA:2298
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Prolidase Deficiency
Hepatomegaly, Thrombocytopenia, Splenomegaly, Skin ulcer, Low posterior hairline, Anemia, Prolong... OMIM:170100
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Abnormal ... ORPHA:536471
Hamamy Syndrome
Hypoparathyroidism, Osteopenia, Inguinal hernia, Sparse eyelashes, Recurrent fractures, Craniosyn... OMIM:611174
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Kyphosis, Osteoporosis, Secondary amenorrhea, Truncal obesity, Thin skin, Striae dist... OMIM:610489
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Palmoplantar keratoderma, Weight loss ORPHA:2198
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec... ORPHA:94068
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Kyphoscoliosis, Joint stiffness, Osteoarthritis, Osteoporosis, Platyspon... OMIM:208230
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Short stature, Thick hair, Tremor, Generalized joint laxity, Primary amenorrhea, Dysmetria, Growt... ORPHA:502423
Fucosidosis
Hepatomegaly, Lipoatrophy, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Abnormal pyram... ORPHA:349
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Azoospermia, Hypogon... OMIM:615234
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Short neck, Coarse hair, Sparse hair, Short stature, Highly arched eyebrow, Cryptorchidism, Scoli... OMIM:617506
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... ORPHA:913
Autosomal Recessive Spastic Paraplegia Type 53
Clonus, Kyphosis, Joint hyperflexibility, Upper limb hypertonia, Limb dystonia, Failure to thrive ORPHA:319199
Fucosidosis
Cardiomegaly, Anterior beaking of thoracic vertebrae, Flexion contracture, Vacuolated lymphocytes... OMIM:230000
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Scarring alopecia of scalp, Ectopia pupillae, Astigmatism, Microphthalmia OMIM:618727
Pseudohypoparathyroidism, Type Ia
Short stature, Short neck, Osteoporosis, Obesity, Pseudohypoparathyroidism, Subcutaneous ossifica... OMIM:103580
Ullrich Congenital Muscular Dystrophy 1
Joint laxity, Torticollis, Increased laxity of fingers, Spinal rigidity, Kyphosis, Distal joint l... OMIM:254090
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Arthrogryposis, Distal, Type 4
Osteopenia, Torticollis, Kyphosis, Low anterior hairline, Low posterior hairline, Camptodactyly o... OMIM:609128
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent fractures, Craniosynostosis, Abnormality of hair texture, Tremor, Splenom... ORPHA:667
Micro Syndrome
Cataract, Cryptorchidism, Microcornea, Retinal coloboma, Microphthalmia, Generalized hirsutism ORPHA:2510
Oculo-Palato-Cerebral Syndrome
Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia, Aplasia/Hypoplasia... ORPHA:2714
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Cryptorchidism, Microcornea, Microphthalmia, Iris coloboma ORPHA:3301
Schaaf-Yang Syndrome
Failure to thrive in infancy, Short stature, Cryptorchidism, Kyphosis, Flexion contracture, Obesi... OMIM:615547
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Inguinal hernia, Congenital kyphoscoliosis, Short stature, Kyphoscoliosis, Synophrys,... ORPHA:536545
Baraitser-Winter Syndrome 2
Microphthalmia, Coloboma, Highly arched eyebrow OMIM:614583
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Disproportionate short stature, Hypopigmented skin patches, Fine hair, Anemia, Truncal obesity, J... ORPHA:2637
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Pilomatrixoma, Adrenocortical carcinoma, Medulloblastoma, ... ORPHA:247806
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dystrophy, O... OMIM:617337
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Hypogonadism, Osteoporosis, Delayed puberty OMIM:615270
Dermatomyositis
Telangiectasia of the skin, Pruritus, Gastrointestinal stroma tumor, Lymphoma, Erythema, Breast c... ORPHA:221
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Short stature, Joint stiffness, Splenomegaly, ... ORPHA:585
Perry Syndrome
Tremor, Depression, Dementia, Weight loss ORPHA:178509
Hemochromatosis, Type 2B
Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis... OMIM:613313
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Anemia OMIM:616435
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Synophrys, Piebaldism, Hypopigm... ORPHA:2884
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Cryptorchidism, Kyphosis, Scoliosis, Dystonia, Arthrogryposis multiplex congenita OMIM:611890
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Short stature, Hyperconvex thumb nails, Spastic gait, Fine hair, ... ORPHA:3079
Glass Syndrome
Inguinal hernia, Short stature, Long eyelashes, Thin skin, Nail dysplasia, Camptodactyly, Sparse ... OMIM:612313
Encephalocraniocutaneous Lipomatosis
Alopecia, Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid, Microphthalmia OMIM:613001
Weaver Syndrome
Deep-set nails, Inguinal hernia, Thin nail, Cryptorchidism, Kyphosis, Slurred speech, Limited kne... OMIM:277590
Classic Phenylketonuria
Hypopigmentation of hair, Tremor, Lack of skin elasticity, Paraplegia, Growth delay, Hypertonia, ... ORPHA:79254
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria, Hypogonadism, Hypoplastic nipples, Small nail, Sparse hair OMIM:273400
Fetal Hydantoin Syndrome
Short stature, Low posterior hairline, Coarse hair, Neoplasm, Hernia, Intrauterine growth retarda... ORPHA:1912
Idiopathic Achalasia
Weight loss ORPHA:930
Histiocytoid Cardiomyopathy
Microphthalmia, Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair, Palmoplantar keratoderma OMIM:611528
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Postnatal growth retardation, Developmental cataract, Cutis laxa, Intrauterine g... OMIM:616603
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Osteoporosis, Platyspondyly, Disproportionate short... ORPHA:93351
Juvenile Paget Disease
Abnormality of retinal pigmentation, Short stature, Recurrent fractures, Cranial hyperostosis, Os... ORPHA:2801
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Kyphosis, ... ORPHA:77259
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Papilloma, Conjunctiva... ORPHA:201
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Failure to thrive, Small for gestational age, Short stature, Abn... OMIM:610443
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Brittle hair, Remnants of the hyaloid vascular system, Highly ... OMIM:619539
Toxic Epidermal Necrolysis
Acantholysis, Corneal erosion, Erythema, Skin ulcer, Weight loss, Conjunctivitis, Abnormal vagina... ORPHA:537
Neutrophilic Dermatosis, Acute Febrile
Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa OMIM:608068
Baraitser-Winter Syndrome 1
Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Chorioretinal coloboma, Microphtha... OMIM:243310
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sp... OMIM:277440
Fountain Syndrome
Erythema, Short stature, Cutis marmorata ORPHA:3219
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Astigmatism, Retinal coloboma, Horizontal eyebrow, Microphthalmia OMIM:618571
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Joint laxity, Ataxia, Synophrys, Fine hair, Growth delay, Head tremor OMIM:619428
Androgen Insensitivity Syndrome
Inguinal hernia, Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axill... OMIM:300068
Squalene Synthase Deficiency
Failure to thrive in infancy, Bilateral cryptorchidism, Elbow flexion contracture, Abnormality of... OMIM:618156
Classic Homocystinuria
Sparse scalp hair, Abnormality of retinal pigmentation, Hepatomegaly, Recurrent fractures, Joint ... ORPHA:394
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
X-Linked Intellectual Disability, Snyder Type
Short stature, Involuntary movements, Kyphoscoliosis, Recurrent fractures, Sparse eyebrow, Crypto... ORPHA:3063
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Sparse eyelashes, Fine hair, Microcornea, Persistent pupillary membrane, Sparse hair, M... OMIM:257850
Huntington Disease
Bradyphrenia, Dystonia, Depression, Weight loss, Irritability, Hostility, Abnormal libido, Mental... ORPHA:399
Fetal Akinesia Deformation Sequence 4
Short neck, Cryptorchidism, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita OMIM:618393
Joubert Syndrome 22
Microphthalmia, Coloboma OMIM:615665
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Kyphosis, Joint hyperflexibility, Hypogonadism, Abnormality of the ovary ORPHA:1875
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Ky... OMIM:130060
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Inguinal hernia, Thoracic scoliosis, Pilonidal sinus, Short stature, Short neck, Jo... OMIM:252940
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Ataxia, Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow OMIM:616819
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Inguinal hernia, Sacral dimple, La... ORPHA:544488
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Down Syndrome
Joint laxity, Short neck, Abnormality of the lymphatic system, Decreased fertility, Obesity, Spar... ORPHA:870
Myopathic Ehlers-Danlos Syndrome
Failure to thrive, Multiple joint contractures, Foot joint contracture, Shoulder flexion contract... ORPHA:536516
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Epidermal acanthosis, Patchy palmoplantar hyperkeratosis, Hypergranul... OMIM:133200
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopat... ORPHA:37748
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Back pain, Abnormal thoracic spine morphology, Brain neoplasm, Metrorrh... ORPHA:370348
Iga Pemphigus
Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Skin vesicle, Generalized... ORPHA:555905
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Hyperkeratosis, Abnormality of extrapyramidal mo... ORPHA:79279
Spinocerebellar Ataxia 34
Ataxia, Epidermal hyperkeratosis, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochok... OMIM:133190
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Recurrent fractures, Joint hypermobility, Long eyelashes, Biconca... OMIM:617952
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Joint laxity, Curly hair, Short stature, Ataxia, Hyperlordosis, Hypertonia, Scoliosis, Failure to... OMIM:300986
Chromosome 5P13 Duplication Syndrome
Small for gestational age, Craniosynostosis, Low posterior hairline, Scoliosis, Sparse hair OMIM:613174
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Sarcoma, Weight loss ORPHA:66661
Lymphatic Malformation 4
Hyperkeratosis, Toenail dysplasia, Cellulitis OMIM:615907
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules, Albinism OMIM:614072
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Cleidocranial Dysplasia
Short stature, Abnormal dental enamel morphology, Recurrent fractures, Abnormal sacrum morphology... ORPHA:1452
Gapo Syndrome
Hepatomegaly, Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Growth delay, Hypoplast... OMIM:230740
Bloom Syndrome
Adipose tissue loss, Paronychia, Neoplasm, Neoplasm of the breast, Hypopigmentation of the skin, ... ORPHA:125
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Abnormality of retinal pigmentation, Sparse body hair ORPHA:1897
Pseudohypoparathyroidism, Type Ic
Short stature, Short neck, Osteoporosis, Obesity, Pseudohypoparathyroidism, Hypogonadism, Enamel ... OMIM:612462
Alopecia Antibody Deficiency
Short stature, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of ... ORPHA:1006
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Short stature, Recurrent fractures, Macular scar, Kyp... OMIM:239000
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Lipoatrophy, Absent eyelashes, Pulmonary carcinoid tumor, Premature graying of ha... ORPHA:363618
Turcot Syndrome With Polyposis
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Ataxia, Soft tissue neoplasm, Glioma, Pilom... ORPHA:99818
Ritscher-Schinzel Syndrome 4
Curly hair, Short stature, Ataxia, Cryptorchidism, Chorea, Athetosis, Scoliosis, Limited knee ext... OMIM:619435
Refsum Disease
Microphthalmia, Cataract, Nail dysplasia ORPHA:773
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Short neck, Thrombocytopenia, Synophrys, M... OMIM:606003
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... ORPHA:3226
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Appendicular spasticity, Short neck, Synophrys, Obesity, Fine hair, Thoracic kyphosis, Long eyela... OMIM:620250
Kindler Epidermolysis Bullosa
Recurrent skin infections, Corneal opacity, Phimosis, Erythema, Neoplasm of the urethra, Squamous... ORPHA:2908
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Wolf-Hirschhorn Syndrome
Sacral dimple, Ataxia, Congenital diaphragmatic hernia, Highly arched eyebrow, Cryptorchidism, Ky... ORPHA:280
Masa Syndrome
Lower limb spasticity, Short stature, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia OMIM:303350
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... ORPHA:67036
Glutamine Deficiency, Congenital
Erythema OMIM:610015
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteos... ORPHA:324964
Nicolaides-Baraitser Syndrome
Dry hair, Low anterior hairline, Gait ataxia, Sparse hair, Sparse medial eyebrow, Absent eyebrow,... OMIM:601358
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Splenomegaly, Lymphoma, Osteolysis, Weight loss, Lymphadenopathy, Neoplasm,... ORPHA:391
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Short stature, Limb ataxia, Truncal ataxia OMIM:617101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract OMIM:616538
Hereditary Central Diabetes Insipidus
Growth delay, Irritability, Weight loss ORPHA:30925
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Biconvex vertebral bodies, Sa... ORPHA:175
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Short stature, Short neck, Postnatal growth retardation, Hyposegmentation of neutrophil nuclei, C... OMIM:614800
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Cataract, Corneal opacity, Delayed puberty ORPHA:496790
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Squamous cell carcinoma, G... ORPHA:79408
Ramon Syndrome
Short stature, Kyphosis, Gingival fibromatosis, Hyperkeratosis, Pigmentary retinopathy, Scoliosis... OMIM:266270
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Camptodactyly of finger, Short stature, Hyperlordosis, Sparse eyebrow, Leukonyc... ORPHA:77258
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Short stature, Tremor, Cryptorchidism, Kyphosis, Gait ataxia, Abdominal obesity, Hy... OMIM:300354
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis, Squamous cell carcinoma OMIM:613736
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Long eyelashes, Epidermal acanthosis OMIM:616069
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Corneal opacity, Short stature, Small for gestational age, Hypospadias, Cryp... OMIM:301056
17Q11 Microdeletion Syndrome
Osteopenia, Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Abnormal central motor f... ORPHA:97685
Neuroblastoma, Susceptibility To, 1
Ataxia, Ganglioneuroblastoma, Weight loss, Myoclonus, Neuroblastoma, Failure to thrive, Ganglione... OMIM:256700
Thrombocytopenia 5
Petechiae, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... OMIM:616216
Stevens-Johnson Syndrome
Dyspareunia, Acantholysis, Corneal erosion, Erythema, Weight loss, Conjunctivitis ORPHA:36426
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Ruvalcaba Syndrome
Inguinal hernia, Cryptorchidism, Kyphosis, Hypopigmented skin patches, Scoliosis, Delayed puberty... ORPHA:3121
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia, Cryptorchidism, Hemipl... ORPHA:1647
Uruguay Faciocardiomusculoskeletal Syndrome
Left ventricular hypertrophy, Kyphoscoliosis, Cardiomegaly, Limited elbow movement, Kyphosis, Syn... OMIM:300280
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Zimmermann-Laband Syndrome
Hepatomegaly, Generalized hyperpigmentation, Joint hypermobility, Short neck, Splenomegaly, Gingi... ORPHA:3473
Diamond-Blackfan Anemia 1
Macrocytic anemia, Short stature, Myelodysplasia, Congenital hypoplastic anemia, Reticulocytopeni... OMIM:105650
Multiple Benign Circumferential Skin Creases On Limbs
Microcornea, Microphthalmia, Generalized hirsutism, Cryptorchidism ORPHA:2505
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Shallow anterior chamber OMIM:305390
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Chromomycosis
Ankylosis, Hyperparakeratosis, Hypopigmented skin patches, Osteolysis, Squamous cell carcinoma, A... ORPHA:182
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Tempi Syndrome
Hemangioma, Increased hematocrit, Polycythemia, Facial erythema ORPHA:284227
Weill-Marchesani Syndrome 2
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... OMIM:608328
Glucagonoma
Neoplasm of the pancreas, Skin rash, Elevated circulating growth hormone concentration, Necrolyti... ORPHA:97280
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Alopecia, Lipodystrophy, Neoplasm of the skeletal system, Paralysis, A... ORPHA:2396
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Abnormal dental enamel morphology, Hyperconvex fingernails, Skin vesicle, Hypoplastic f... ORPHA:257
Milroy Disease
Angiosarcoma, Hyperkeratosis, Neoplasm of the skin, Cellulitis, Toenail dysplasia ORPHA:79452
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Adult-Onset Still Disease
Pruritus, Erythema, Skin rash ORPHA:829
Kleefstra Syndrome 2
Growth delay, Kyphosis, Scoliosis, Thick eyebrow OMIM:617768
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Epidermal acanthosis, Hypergranulosis, Ichthyosis OMIM:615022
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Corneal scarring, Reticular hyperpigmentation, Generalized reticula... OMIM:301220
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short stature, Reduced bone mineral density, Joint hyperflexibility, Coarse hair, Spina bifida oc... ORPHA:1185
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Oculocerebral Hypopigmentation Syndrome, Preus Type
Short stature, Ataxia, Abnormality of neutrophils, White hair, Ocular albinism, Reduced bone mine... ORPHA:2720
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Hypogonadism, Osteoporosis OMIM:615267
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Cryptorchidism, Kyphosis, Low anterior hairline, Hirsutism, Woolly hair, D... OMIM:619244
Familial Colorectal Cancer Type X
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... ORPHA:440437
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Ataxia, Large for gestational age, Babinski sign, Osteoporosis, Ankle clonus, Scolios... OMIM:615398
Porphyria Variegata
Back pain, Scarring, Thickened skin, Anemia, Abnormality of the liver, Respiratory paralysis, Tet... ORPHA:79473
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Cataract, Hypogonadism OMIM:610651
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Joint laxity, Sparse scalp hair, Severe short stature, Short nail, Kyphoscoliosis, Short neck, Ov... OMIM:271640
Analbuminemia
Lipodystrophy, Osteoporosis OMIM:616000
Sialuria
Hepatomegaly, Inguinal hernia, Splenomegaly, Synophrys, Low posterior hairline, Poor fine motor c... OMIM:269921
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Immunodeficiency 54
Hepatomegaly, Failure to thrive, Short stature, Lymphoproliferative disorder, Postnatal growth re... OMIM:609981
Alpha-Mannosidosis
Cataract, Corneal opacity, Generalized abnormality of skin ORPHA:61
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis OMIM:615761
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:615023
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Short stature, Ataxia, Kyphosis, Obesity, Scoliosis OMIM:618124
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Pineal cyst, Hypopigmentation of the skin,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Hypopigmentation of the skin,... ORPHA:363958
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair, Spastic paraplegia, Abnormal pyramidal sign, Scoliosis OMIM:256850
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alo... ORPHA:251393
Eec Syndrome
Slow-growing hair, Decreased response to growth hormone stimulation test, Abnormal dental enamel ... ORPHA:1896
Kikuchi-Fujimoto Disease
Hepatomegaly, Alopecia, Generalized lymphadenopathy, Ataxia, Thrombocytopenia, Cervical lymphaden... ORPHA:50918
Walker-Warburg Syndrome
Anophthalmia, Corneal opacity, Cataract, Cryptorchidism, Microcornea, Microphthalmia, Iris coloboma ORPHA:899
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Inguinal hernia, Increased vertebral height, Splenomegaly, Vacuolated lymphocytes, ... OMIM:248500
Kasabach-Merritt Syndrome
Reticulocytosis, Purpura, Thrombocytopenia, Anemia, Leukopenia, Hepatic hemangioma, Microangiopat... ORPHA:2330
Revesz Syndrome
Aplastic anemia, Ataxia, Nail pits, Fine hair, Hypertonia, Nail dystrophy, Bone marrow hypocellul... OMIM:268130
Microphthalmia, Lenz Type
Cataract, Cryptorchidism, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Microphthalmi... ORPHA:568
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Nail dystrophy, Highly arched eyebrow OMIM:300887
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Short stature, Postnatal growth retarda... ORPHA:2323
Warburg-Cinotti Syndrome
Symblepharon, Poor wound healing, Erythema, Limbal stem cell deficiency, Thin skin, Decreased cor... OMIM:618175
Mucopolysaccharidosis, Type Ii
Abnormality of retinal pigmentation, Inguinal hernia, Hepatomegaly, Short stature, Severe short s... OMIM:309900
Familial Exudative Vitreoretinopathy
Microphthalmia, Cataract ORPHA:891
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Synophrys, Low posterior hairline, Clumsiness, Thin eyebrow, Sparse hair OMIM:619320
Corneodermatoosseous Syndrome
Erythema, Severe short stature, Corneal dystrophy, Palmoplantar keratoderma ORPHA:3194
Subacute Cutaneous Lupus Erythematosus
Hyperkeratosis, Psoriasiform lesion ORPHA:163525
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Lower limb spasticity, Lumbar hyperlordosis, Short neck, Postnatal growth retardation... ORPHA:251028
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hepatic steatosis, Hepatomegaly, Short stature, Osteoporosis, Increased susceptibilit... ORPHA:79259
Frontorhiny
Microphthalmia, Widow's peak, Cataract, Iris coloboma ORPHA:391474
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Overweight, Patent ductus arteriosus, Persistence of hemoglobin F, Umbilical hernia OMIM:619769
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis OMIM:126550
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Microphthalmia, Iris... OMIM:243605
Kcnq2-Related Epileptic Encephalopathy
Dystonia, Pallor, Facial erythema ORPHA:439218
Hurler Syndrome
Hepatomegaly, Inguinal hernia, Short stature, Short neck, Joint stiffness, Hypoplasia of the odon... OMIM:607014
12Q14 Microdeletion Syndrome
Thick eyebrow, Short stature, Tremor, Abnormality of the spleen, Synophrys, Osteopoikilosis, Scol... ORPHA:94063
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Abnormal ... ORPHA:2635
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis, Tremor ORPHA:66633
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Hypogonadotropic hypogonadism, Short stature, Hyperlordosis, Limitatio... ORPHA:3068
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Follicular hyperplasi... OMIM:614470
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Hypoplastic sacrum, Small for gestational age, Rhizomelia, Oligozoospermia, Growth de... OMIM:614813
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Abnormal erythrocy... ORPHA:288
Kaposiform Lymphangiomatosis
Abnormal thoracic spine morphology, Metrorrhagia, Pancreatic cysts, Lymphangioma, Abnormal sacrum... ORPHA:464329
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Alopecia, Abnormal intervertebral disk morphology, Abnormally ossified vertebrae, Sev... ORPHA:2636
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Ataxia, Obesity, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Kallmann Syndrome
Dyspareunia, Hypogonadotropic hypogonadism, Ataxia, Recurrent fractures, Tremor, Cryptorchidism, ... ORPHA:478
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Nephroblastoma, Elevated circulat... ORPHA:251510
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Microphthalmia, Iris hypopigmentation ORPHA:284160
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
White Sponge Nevus 2
Hyperparakeratosis, Epidermal acanthosis OMIM:615785
Microscopic Polyangiitis
Cutis marmorata, Skin rash, Erythema, Skin ulcer, Subcutaneous hemorrhage ORPHA:727
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis, Abnormality of the nail ORPHA:254478
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Short stature, Obesity, Scoliosis ORPHA:276630
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Inguinal hernia, Abnormality of the pancreas, White hair, Fine hair, Reduced bone mineral density... ORPHA:935
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Cataract ORPHA:163649
Ck Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Slender build, Joint hyper... OMIM:300831
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Pancytopenia, Hepatomegaly, Increased bone mineral densi... OMIM:259700
Ddost-Cdg
Osteopenia, Lipodystrophy, Short stature, Tremor, Oromotor apraxia, Dry skin, Failure to thrive, ... ORPHA:300536
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Severe short stature, Corneal opacity, Eczema, Keratitis, Cryptorchidism, Corneal erosion, Erythe... ORPHA:2273
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Weight los... ORPHA:157941
Pycnodysostosis
Ridged nail, Decreased response to growth hormone stimulation test, Generalized osteosclerosis, A... ORPHA:763
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Remnants of the hyaloid vascular system... OMIM:609049
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Alopecia, Hypogonadism, Hypopigmented skin patches ORPHA:3143
Short Stature With Microcephaly And Distinctive Facies
Osteopenia, Sparse scalp hair, Severe short stature, Small for gestational age, Sparse eyebrow, S... OMIM:615789
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Low anterior hairline, Coarse hair, Astigmatism, Generalized hirsutism ORPHA:2095
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Recurrent fractures, Proportionate short stature, Abnormality of hair... ORPHA:2108
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Inguinal hernia, Failure to thrive, Short ... OMIM:151050
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... OMIM:618963
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Short neck, Spinal rigidity, Kyphosis, Flexion contracture, Elbow flexion contractur... ORPHA:75840
Addison Disease
Hypoparathyroidism, Normocytic anemia, Failure to thrive, Primary testicular failure, Premature o... ORPHA:85138
Nodular Non-Suppurative Panniculitis
Erythema, Weight loss ORPHA:33577
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Short stature, Hyperlordosis, Hypoplasia of the odontoid process, Osteoporosis, Ivo... OMIM:226980
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation, Nail dystrophy, Leukopenia OMIM:615190
Chops Syndrome
Curly hair, Short stature, Thick hair, Cryptorchidism, Synophrys, Splenomegaly, Obesity, Coarse h... OMIM:616368
Chime Syndrome
Erythema, Osteolysis, Skin ulcer, Acute leukemia, Fine hair, Hyperkeratosis, Ichthyosis, Sparse hair ORPHA:3474
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Osteomyelitis, Osteolytic defects of the phalanges of the hand OMIM:615632
Vipoma
Neoplasm of the pancreas, Follicular thyroid carcinoma, Elevated circulating growth hormone conce... ORPHA:97282
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Small for gestational age, Proportionate short stature, Hype... OMIM:234100
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Cataract, Cryptorchidism, Hypogonadism, Microphthalmia, Iris coloboma ORPHA:2250
Fryns-Smeets-Thiry Syndrome
Cachexia, Short stature, Scoliosis, Joint hyperflexibility ORPHA:2058
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Ataxia, Proportionate short stature, Spastic tetraparesis, Babinski sign, W... ORPHA:3208
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Thickened skin... ORPHA:436252
Immunodeficiency 21
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... OMIM:614172
Atypical Rett Syndrome
Dystonia, Involuntary movements, Tremor, Kyphosis, Limb myoclonus, Gait ataxia, Growth delay, Pil... ORPHA:3095
Oromandibular Dystonia
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Depression, Limb dystonia, Lingual... ORPHA:93958
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia OMIM:615085
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Cryptorchidism, Kyphosis, Flexion contracture, Scoliosis, Webbed neck, Arthrogryposis... ORPHA:178148
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Bethlem Myopathy
Multiple joint contractures, Lumbar hyperlordosis, Interphalangeal joint contracture of finger, A... ORPHA:610
Lead Poisoning
Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Cranial h... ORPHA:330015
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Inguinal hernia, Camptodactyly of finger, Supernumerary nipple, Sparse eye... ORPHA:261349
Giant Cell Arteritis
Alopecia, Ataxia, Joint stiffness, Mediastinal lymphadenopathy, Skin ulcer, Weight loss, Arthritis ORPHA:397
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Kyphosis, Ataxia, Scoliosis ORPHA:101075
Cohen Syndrome
Abnormality of retinal pigmentation, Failure to thrive in infancy, Thick hair, Short stature, Abn... ORPHA:193
Cowden Syndrome 1
Acrokeratosis, Kyphosis, Fibroadenoma of the breast, Palmoplantar hyperkeratosis, Breast carcinom... OMIM:158350
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis OMIM:148600
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Gait ataxia, Hepatomegaly, Inguinal hernia, Highly arched eyebrow, Large for gestational age, Pal... OMIM:280000
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal form of the vertebra... ORPHA:666
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Synophrys, Hirsutism, Growth delay, ... OMIM:615485
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Primary amenorrh... OMIM:618187
Melas
Hypoparathyroidism, Short attention span, Short stature, Hypogonadotropic hypogonadism, Erythema,... ORPHA:550
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Hepatomegaly, Short stature, Elevated hemoglobin A1c, Joint stiffness, Sparse eyebrow... OMIM:619127
Familial Keratoacanthoma
Skin ulcer, Hyperkeratosis, Neoplasm, Adenoma sebaceum, Papilloma ORPHA:493
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Pachyonychia Congenita 1
Follicular hyperkeratosis, Nail dystrophy, Onychogryposis, Palmoplantar hyperkeratosis OMIM:167200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Epidermal acanthosis, Parakeratosis, Fai... ORPHA:83617
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... ORPHA:276399
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Hip Dysplasia, Beukes Type
Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ... ORPHA:2114
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Sparse eyelashes, Sparse eyebrow, Unilateral microphthalmos, Macroorchidism, Alopecia of scalp, I... OMIM:618874
Lateral Meningocele Syndrome
Vertebral fusion, Inguinal hernia, Short stature, Short neck, Cryptorchidism, Kyphosis, Coarse ha... OMIM:130720
Diastrophic Dysplasia
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Cryptorchidism, Kyphosi... ORPHA:628
Oculomaxillofacial Dysostosis
Cognitive impairment, Corneal opacity, Short stature ORPHA:1794
Frontonasal Dysplasia 3
Microphthalmia, Absent eyebrow, Sparse eyelashes OMIM:613456
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Lower limb spasticity, Short stature, Absent pubertal growth spurt, Ataxia, Kyphosis, Obesity, Fa... ORPHA:464282
Obesity And Hypopigmentation
Red hair, Hepatic steatosis, Obesity OMIM:620195
Gm1-Gangliosidosis, Type Iii
Short stature, Opacification of the corneal stroma, Dystonia OMIM:230650
19P13.12 Microdeletion Syndrome
Craniosynostosis, Short neck, Cryptorchidism, Synophrys, Kyphosis, Obesity, Scoliosis, Arthrogryp... ORPHA:254346
Metatropic Dysplasia
Relatively short spine, Severe short stature, Kyphoscoliosis, Abnormal enchondral ossification, H... OMIM:156530
Tbck-Related Intellectual Disability Syndrome
Decreased response to growth hormone stimulation test, Short neck, Cryptorchidism, Synophrys, Hir... ORPHA:488632
Insulin Autoimmune Syndrome
Acanthosis nigricans, Weight loss ORPHA:411593
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Albinism, Thickened skin, Basal cell carcinoma, Melanoma, Squamous cell... ORPHA:79434
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Martsolf Syndrome 1
Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Low anterior hairline, Developmental cat... OMIM:212720
Sunct Syndrome
Flushing, Conjunctival hyperemia, Facial erythema ORPHA:57145
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Redundant neck skin, Short stature, Joint hypermobility, Highly arched eyebrow, Low p... OMIM:617360
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Craniosynostosis, Cryptorchidism... OMIM:620005
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Joint hypermobility, Trichorrhexis nodosa, Small nail, Pili torti, Fragile nails, Spars... OMIM:261990
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma, Iris coloboma ORPHA:2328
Lopes-Maciel-Rodan Syndrome
Tremor, Kyphosis, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia, Scoliosis, Dys... OMIM:617435
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Craniofrontonasal Syndrome
Ridged nail, Curly hair, Split nail, Joint laxity, Short stature, Congenital diaphragmatic hernia... OMIM:304110
Orofaciodigital Syndrome Type 3
Hamartoma of tongue, Abnormality of hair texture, Thoracic kyphosis, Myoclonus, Oculomotor apraxi... ORPHA:2752
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Small for gestational age, Thin nail, Short stature, Ataxia, Vocal cord pa... OMIM:617799
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Cryptorchidism, Kyphosis, Flexion contracture, Scolios... OMIM:618484
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Sjogren-Larsson Syndrome
Astigmatism, Short stature, Opacification of the corneal epithelium OMIM:270200
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Pathologic fracture ORPHA:36386
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Hemangioma, Conjunctivitis, Corneal opacity OMIM:602562
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Kyphosis, Decr... OMIM:259420
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Inguinal hernia, Kyphoscoliosis, Osteoporosis, Excessive wrinkled skin,... OMIM:225400
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Failure to thrive, Ataxia, Osteoporosis OMIM:266510
Acrofacial Dysostosis, Catania Type
Inguinal hernia, Short stature, Abnormal hair pattern, Cryptorchidism, Coarse hair, Webbed neck, ... ORPHA:1786
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus, Follicular hyperkeratosis OMIM:615147
Holocarboxylase Synthetase Deficiency
Alopecia, Hypertonia, Thrombocytopenia OMIM:253270
Kaposi Sarcoma
Lymphoproliferative disorder, Skin rash, Neoplasm by anatomical site, Weight loss, Neoplasm of th... ORPHA:33276
Keutel Syndrome
Alopecia, Short stature ORPHA:85202
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Failure to thrive, Paronychia, Osteoporosis, Squamous cell carcinoma, Growth delay, Nai... ORPHA:79404
Neurofibromatosis Type 1
Astrocytoma, Multiple lipomas, Neoplasm, Pheochromocytoma, Heterochromia iridis, Spinal neurofibr... ORPHA:636
Brittle Cornea Syndrome 1
Joint laxity, Atypical scarring of skin, Scoliosis, Palmoplantar cutis laxa, Red hair, Dentinogen... OMIM:229200
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Astigmatism, Optic nerve hypoplasia, Hyperopic astigmatism, Fine hair ORPHA:363686
Pelger-Huet Anomaly
Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Low... OMIM:169400
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic... OMIM:614941
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Tremor, Dysmetria, Intrauterine growth retardation, Hypersegmentation of neutr... OMIM:615578
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Clonus, Dysmetria, Gait ataxia, Acanthosis nigricans, Sparse hai... OMIM:606721
Cranioectodermal Dysplasia 3
Joint laxity, Short stature, Short nail, Rhizomelia, Sagittal craniosynostosis, Broad nail, Cutis... OMIM:614099
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased testicular size, Osteoporosis OMIM:614838
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Microphthalmia, Cataract, Sparse hair OMIM:616449
Becker Nevus Syndrome
Hamartoma, Lipoatrophy, Hypermelanotic macule, Supernumerary nipple, Kyphosis, Scoliosis, Spina b... ORPHA:64755
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Short stature, Cryptorchidism, Splenomegaly, Elbow flexi... OMIM:618440
Cranioectodermal Dysplasia 1
Joint laxity, Hepatomegaly, Inguinal hernia, Slow-growing hair, Thin nail, Short nail, Malformati... OMIM:218330
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Microcytic anemia, Adipose tissue loss, Flexion contracture, Premature graying of h... OMIM:256040
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Fanconi Anemia, Complementation Group V
Anemia, Short stature, Thrombocytopenia, Neutropenia OMIM:617243
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Severe short stature, Foot joint contracture, Infancy onset short-trunk short st... ORPHA:444072
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Hyperto... ORPHA:85212
Immunodeficiency 12
Short stature, Abnormal lymphocyte count, Osteoporosis, Growth delay, Decreased body weight OMIM:615468
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Patent ductus arteriosus, Corneal opacity OMIM:618961
Wiedemann-Rautenstrauch Syndrome
Short neck, Flexion contracture, Hypertonia, Hypoplasia of the thymus, Intention tremor, Absent e... OMIM:264090
Tyrosinemia Type 2
Ataxia, Tremor, Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail ORPHA:28378
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Psoriasiform dermatitis, Severe B lymphocytopenia, Alopecia totalis, Decreased response... ORPHA:293978
Opitz-Kaveggia Syndrome
Inguinal hernia, Multiple joint contractures, Lumbar hyperlordosis, Sacral dimple, Facial wrinkli... OMIM:305450
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Failure to thrive, Severe short stature, Corneal opacity, Hypospadias,... ORPHA:2556
Lathosterolosis
Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Lumbosacral meningocele, In... OMIM:607330
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos, Low anterior hairline, Frontal upsweep of hair, Horizon... ORPHA:369891
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Increased bone mineral density, Cortical sclerosis, Postnatal growth retarda... OMIM:620366
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Palm... OMIM:106260
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Bicoronal synostosis, Camptodactyly of finger, Supernumerary nipple, Highly arched eyebrow, Myelo... OMIM:619951
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Kyphosis, Prolonged neonatal jaundice OMIM:618512
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exo... OMIM:269200
Osteogenesis Imperfecta, Type Xx
Kyphoscoliosis, Highly arched eyebrow, Multiple prenatal fractures, Disproportionate short-limb s... OMIM:618644
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Carcinoma, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dys... OMIM:610644
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Weight loss, Dementia, Slender build, Allodynia OMIM:603041
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia... ORPHA:822
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Writer's cramp, Reduced bone mineral density, Irregular... ORPHA:428
Mucopolysaccharidosis Type 3
Adenoiditis, Cardiomegaly, Synophrys, Flexion contracture, Abnormal pyramidal sign, Abnormal form... ORPHA:581
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyram... ORPHA:397946
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemi... OMIM:612840
Lysosomal Acid Lipase Deficiency
Failure to thrive, Bone-marrow foam cells, Cachexia, Hypersplenism, Microvesicular hepatic steato... ORPHA:275761
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestasis, Lymphadenopathy, Growth del... OMIM:615895
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit... ORPHA:897
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia OMIM:613150
Deafness, X-Linked 7
Unilateral microphthalmos, Thick eyebrow OMIM:301018
Nephroblastoma
Weight loss, Neoplasm of the lung, Neoplasm, Aniridia, Nephroblastoma ORPHA:654
Brachyolmia Type 1, Toledo Type
Childhood-onset short-trunk short stature, Disproportionate short-trunk short stature, Opacificat... OMIM:271630
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Tremor, Synophrys, Hypoplastic... ORPHA:3455
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Synophrys, Primary amenorrhea, Coloboma,... OMIM:603457
Cerebrofaciothoracic Dysplasia
Short stature, Abnormal hair pattern, Short neck, Synophrys, Hemivertebrae, Low posterior hairlin... ORPHA:1394
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Weight loss, Neoplasm, Menorrhagia ORPHA:168816
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, ... ORPHA:520
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia, Short stature OMIM:617763
Marshall-Smith Syndrome
Craniosynostosis, Reduced bone mineral density, Increased susceptibility to fractures, Joint hype... ORPHA:561
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Short stature, Weight loss ORPHA:388
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Polycythemia, Astrocytosis ORPHA:309854
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Weight loss,... ORPHA:545
Noonan Syndrome
Abnormal hair quantity, Hepatomegaly, Hypogonadotropic hypogonadism, Short stature, Cryptorchidis... ORPHA:648
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis, Kyphoscoliosis OMIM:618339
Hurler Syndrome
Hepatomegaly, Cerebral palsy, Short stature, Camptodactyly of finger, Abnormality of the tonsils,... ORPHA:93473
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Kyphosis, Ataxia, Scoliosis ORPHA:101078
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Abnormal fingernail morphology, Weight loss ORPHA:1164
Idiopathic Hypercalciuria
Osteopenia, Osteoporosis ORPHA:2197
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Familial Tumoral Calcinosis
Erythema, Skin rash, Neoplasm of the skin ORPHA:53715
Schimke Immuno-Osseous Dysplasia
Lymphoproliferative disorder, Corneal opacity, Short stature, Small for gestational age, Dispropo... ORPHA:1830
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Joint laxity, Abnormality of hair texture, Hyperlordosis, Thickened skin, Synophrys, ... ORPHA:73223
Isaacs Syndrome
Fasciculations, Weight loss ORPHA:84142
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Tremor, Weight loss, Pallor, Paraganglioma, Flushing ORPHA:94080
Leprosy
Absent eyebrow, Alopecia, Abnormality of the spleen, Testicular mass, Loss of eyelashes, Penetrat... ORPHA:548
Abcd Syndrome
White eyelashes, White eyebrow, Large for gestational age, Albinism, Polycythemia OMIM:600501
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Neoplasm,... OMIM:172800
Wrinkly Skin Syndrome
Osteopenia, Inguinal hernia, Lipodystrophy, Short stature, Kyphoscoliosis, Postnatal growth retar... ORPHA:2834
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Ataxia, Pure red cell aplasia, Autoimmune thrombo... OMIM:613179
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia OMIM:618107
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Hypogonadotrop... OMIM:206900
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Leukonychia, Palmoplantar hyperkeratosis ORPHA:2698
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Osteoporosis, Platyspondyly, Disproportionate short-limb short stature, Scol... OMIM:619131
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Inguinal hernia, Sacral dimple, Ataxia, Cryptorchidism, Osteoporosis, Growth delay, Lower-limb jo... ORPHA:459070
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Craniosynostosis, Bilateral cryptorchidism, Sparse eyebrow, F... OMIM:613451
Trichohepatoneurodevelopmental Syndrome
Joint laxity, Curly hair, Hepatomegaly, Woolly hair, Synophrys, Splenomegaly, Coarse hair, Distal... OMIM:618268
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Dystonia, Tremor, Kyph... OMIM:615512
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis ORPHA:258
Marinesco-Sjogren Syndrome
Hypergonadotropic hypogonadism, Short stature, Ataxia, Kyphosis, Flexion contracture, Limb ataxia... OMIM:248800
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis,... OMIM:145250
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallbladder, Adenoc... ORPHA:171
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... ORPHA:79140
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Thickened skin, White ha... ORPHA:79435
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Cerebral palsy, Hyperglycinuria, Opisthotonus, Failure to thrive OMIM:210210
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Clonus, Aminoaciduria, Short stature, Abnormal dental enamel morphology, Ost... ORPHA:534
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes OMIM:616367
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bon... OMIM:269700
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short stature, Cryptorchidism, Flexion contracture, Babinski sign, Lower limb hypertonia, Patchy ... OMIM:300534
Solitary Fibrous Tumor
Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Weight loss, Neoplasm of the lung, Neop... ORPHA:2126
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to ... OMIM:163950
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchidism, Fine ha... ORPHA:1812
Chikungunya
Skin rash, Maculopapular exanthema, Pruritus, Erythema nodosum, Crusting erythematous dermatitis,... ORPHA:324625
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures ORPHA:85193
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Curly hair, Increased bone mineral density, Vertebral arch anomaly, Thin bony cortex ORPHA:85184
Ablepharon Macrostomia Syndrome
Omphalocele, Absent eyebrow, Redundant skin, Abnormal hair pattern, Camptodactyly of finger, Abse... ORPHA:920
Weismann-Netter Syndrome
Severe short stature, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abnormal cortic... ORPHA:3344
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, ... ORPHA:98870
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Sheehan Syndrome
Dyspareunia, Decreased female libido, Sparse axillary hair, Reduced circulating prolactin concent... ORPHA:91355
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Hypopigmentation of hair, Ataxia, Tremor, Obesity, Myoclonus, S... ORPHA:98794
Primrose Syndrome
Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion contracture, Reduced bone ... OMIM:259050
Oculodentodigital Dysplasia
Dry hair, Cataract, Slow-growing hair, Fine hair, Microcornea, Sparse hair, Microphthalmia, Fragi... OMIM:164200
Systemic Sclerosis
Alopecia, Barrett esophagus, Osteomyelitis, Nail bed telangiectasia, Thickened skin, Flexion cont... ORPHA:90291
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair, Cerebral cavernous malformation, Scoliosis OMIM:619910
Biotinidase Deficiency
Splenomegaly, Hepatomegaly, Alopecia, Ataxia OMIM:253260
Rhyns Syndrome
Osteopenia, Short stature, Decreased response to growth hormone stimulation test, Pituitary hypot... OMIM:602152
17Q12 Microduplication Syndrome
Microphthalmia, Synophrys ORPHA:261272
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Cryptorchidism, Melanocytic nevus, Renal transitional cell carcinoma, Hemipares... ORPHA:2874
Adrenomyeloneuropathy
Back pain, Frontal balding, Progressive spastic paraparesis, Babinski sign, Spastic gait, Spastic... ORPHA:139399
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis ORPHA:42642
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Growth delay, Intrauterine growth retardation, Erythema, Corneal scarring OMIM:614653
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Ataxia, Tremor, Rigidity, Osteoporosis, Gait ataxia, Cogwheel rigidity, Bradykine... ORPHA:254892
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype... OMIM:612714
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Marfan Syndrome
Osteopenia, Inguinal hernia, Arthralgia/arthritis, Joint hypermobility, Cachexia, Limited elbow m... ORPHA:558
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Thoracic kyphoscoliosis, Inguinal hernia, Widened atrophic scar, Thoracic scoliosis, ... ORPHA:1900
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Abnormal testis morphology, Scoliosis, Joint stiffness ORPHA:1548
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Inguinal hernia, Absence of Stensen duct, Decreased response to growth hormone... OMIM:129900
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Normocytic anemia, Macrocytic anemia, Premature ovarian insufficiency, Failur... ORPHA:199299
Mietens Syndrome
Severe short stature, Cataract, Corneal opacity, Sclerocornea, Microcornea ORPHA:2557
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Takayasu Arteritis
Anemia, Skin ulcer, Weight loss ORPHA:3287
Bartsocas-Papas Syndrome
Alopecia totalis, Hypoplastic toenails, Sparse or absent eyelashes, Synostosis of joints, Aplasia... ORPHA:1234
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocy... ORPHA:2522
Solitary Median Maxillary Central Incisor
Microphthalmia, Cyclopia, Anophthalmia, Coloboma OMIM:147250
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Primary testicular failure, Elevated circulating creatinine conce... ORPHA:85450
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Synophrys, Coarse hair OMIM:616351
Pilomatrixoma
Pilomatrixoma, Neoplasm of head and neck ORPHA:91414
Darier-White Disease
Ridged nail, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis OMIM:124200
Microsporidiosis
Osteomyelitis, Cholangitis, Cachexia, Abnormality of the spleen, Abnormality of the parathyroid g... ORPHA:2552
Tenosynovial Giant Cell Tumor
Joint stiffness, Limitation of joint mobility, Osteolysis, Multiple lentigines, Localized osteopo... ORPHA:66627
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Large for gestational age, Cryptorchidism, Hypopigmented skin patches, Hemangioma, Ca... ORPHA:457485
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture, Growth delay, Abnormality of the liver, Hepatocellular carcinoma, Fa... ORPHA:88618
Insensitivity To Pain, Congenital, With Anhidrosis
Poor wound healing, Keratitis, Corneal scarring, Acral ulceration, Recurrent corneal erosions, Op... OMIM:256800
Frank-Ter Haar Syndrome
Inguinal hernia, Camptodactyly of finger, Joint stiffness, Kyphosis, Thickened skin, Osteolysis, ... ORPHA:137834
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Exaggerated startle response, Short stature, Involuntary movements, Cry... ORPHA:438213
Cystinosis
Failure to thrive, Corneal opacity, Short stature, Delayed puberty ORPHA:213
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Hyperlordosis, Tr... OMIM:128100
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Thanatophoric Dysplasia
Redundant skin, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexi... ORPHA:2655
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Short stature, Cachexia, Kyphosis, Melanocytic nevus, Scolio... ORPHA:1969
Xp21 Deletion Syndrome
Joint laxity, Hypogonadotropic hypogonadism, Osteoporosis, Reduced bone mineral density, Growth d... ORPHA:261476
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Bicoronal synostosis, Hypogonadotropic hypogonadism, Cryptorchidism, Kyphosis, Osteop... OMIM:619718
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Tremor, Kyphosis, Synophrys, Low anterior hairline, Hirsutism, Frontal upsweep of hair, Scoliosis... OMIM:617061
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Peters anomaly, Microp... OMIM:614643
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Short stature, Splenomegaly, Delayed puberty, Neutropenia, Ost... OMIM:232220
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Hypopigmented ... ORPHA:3453
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... OMIM:613280
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Short neck, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spina... ORPHA:98863
Irida Syndrome
Hyperkeratosis, Pallor, Ichthyosis ORPHA:209981
Cockayne Syndrome Type 2
Hepatomegaly, Lower limb spasticity, Ataxia, Scarring, Hypermelanotic macule, Cryptorchidism, Kyp... ORPHA:90322
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Short stature, Bilateral cryptorchidism, Kyphosis, Synophrys, Flexion contractur... ORPHA:3042
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Increased skull ossification, Craniofacial ... OMIM:618476
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Short neck, Delayed epiphyseal ossification, Flexion contracture, Knee flexion contracture, Spars... OMIM:210710
Pseudo-Torch Syndrome 1
Cataract, Patent ductus arteriosus, Jaundice, Opacification of the corneal stroma, Dystonia, Fail... OMIM:251290
Chédiak-Higashi Syndrome
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... ORPHA:167
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os... OMIM:259440
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Cataract, Sclerocornea, Cryptorchidism OMIM:614230
Lysinuric Protein Intolerance
Osteopenia, Hepatomegaly, Decreased response to growth hormone stimulation test, Ornithinuria, Th... ORPHA:470
Mosaic Variegated Aneuploidy Syndrome 2
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... OMIM:614114
Agel Amyloidosis
Ataxia, Cutis laxa, Abnormal spleen morphology, Nail dystrophy, Sparse hair, Dry skin ORPHA:85448
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyelashes, Sparse eyebrow, Periorbital wrinkles, Sparse hair, Periorbital hyperpigmentation OMIM:224900
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Postnatal growth retardation... ORPHA:508
Costello Syndrome
Hyperextensibility of the finger joints, Redundant neck skin, Limited elbow movement, Short neck,... OMIM:218040
Phace Association
Microphthalmia, Optic nerve hypoplasia, Developmental cataract OMIM:606519
White-Sutton Syndrome
Joint laxity, Short stature, Congenital diaphragmatic hernia, Short neck, Obesity, Sparse hair, I... OMIM:616364
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Clonus, Increased bone m... OMIM:259720
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Roberts Syndrome
Midface capillary hemangioma, Progressive flexion contractures, Craniosynostosis, Short neck, Pos... ORPHA:3103
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Redundant neck skin, Short neck, Postnatal growth retardation, Cry... ORPHA:1655
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract ORPHA:637
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Lymphedema-Distichiasis Syndrome
Yellow nails, Distichiasis, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Corneal u... OMIM:153400
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity, Confusion, Depression ORPHA:309288
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Ataxia... OMIM:212065
16Q24.3 Microdeletion Syndrome
Abnormal hair pattern, Highly arched eyebrow, Cryptorchidism, Kyphosis, Increased mean corpuscula... ORPHA:261250
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Short stature, Thoracolumbar scoliosis, Ataxia, Hyperlordosis, Kyphosis, Synophrys,... OMIM:618443
Supranuclear Palsy, Progressive, 1
Gliosis, Astrocytosis OMIM:601104
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Localized Scleroderma
Abnormal skin adnexa morphology, Fasciitis, Thickened skin, Flexion contracture, Erythema, Hypopi... ORPHA:90289
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cutaneous photosensitivity, Cachexia ORPHA:3217
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Fail... OMIM:602450
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Short stature, Short neck, Splenomegaly, Jaundice, Low posterior... OMIM:611881
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay, Iron deficiency anemia, Exocrine ... ORPHA:309031
Limb-Mammary Syndrome
Alopecia, Absent nipple, Psoriasiform dermatitis, Sparse eyebrow, Primary amenorrhea, Bilateral b... ORPHA:69085
Systemic Lupus Erythematosus
Hemolytic anemia, Alopecia, Chorea, Lymphadenopathy, Leukopenia, Arthritis, Thrombocytopenia ORPHA:536
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Short neck, Absent eyelashes, Cryptorchidism, Sparse eye... OMIM:608156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Buphthalmos, Coloboma, Peters ... OMIM:236670
Acute Adrenal Insufficiency
Normocytic anemia, Failure to thrive, Decreased female libido, Sparse axillary hair, Weight loss,... ORPHA:95409
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Skin rash, Orchitis, Erythema, Conjunctivitis, Bruising susceptibility, Erysipelas ORPHA:32960
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Dry skin, Corneal neovasculariz... ORPHA:163934
Cerebrotendinous Xanthomatosis
Osteopenia, Resting tremor, Abnormality of the vertebral spinous processes, Dystonia, Ataxia, Par... ORPHA:909
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Postnatal growth retardation, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, ... OMIM:301040
Ectodermal Dysplasia And Immunodeficiency 2
Sparse scalp hair, Hepatomegaly, Failure to thrive, Splenomegaly, Aplasia of the sweat glands, Sp... OMIM:612132
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Oropharyngeal squamous cell carcinoma, Short stature, Au... ORPHA:391487
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Short neck, Low anterior hairline, Short stature, Ataxia, Hyperlordosis, Scoliosis, Limb hyperton... OMIM:619950
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Thrombocytopenia OMIM:616937
Congenital Sialidosis Type 2
Cataract, Corneal opacity, Telangiectasia, Developmental cataract, Petechiae ORPHA:93400
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Short stature, Abnormal hemoglobin, Flexion contracture, Spastic paraplegia, Anemia ORPHA:847
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Hypogonadotropic hypogonadism, Short stature, Bilateral cryptorchidism, Osteoporosis,... ORPHA:2326
Parkes Weber Syndrome
Back pain, Hemangiomatosis, Skin ulcer, Abnormal lymphatic vessel morphology, Paraplegia, Scaling... ORPHA:90307
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Fine hair ORPHA:3236
Scheie Syndrome
Corneal opacity OMIM:607016
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
3M Syndrome
Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Increased vertebral ... ORPHA:2616
Myhre Syndrome
Vertebral fusion, Small for gestational age, Short stature, Ataxia, Short neck, Joint stiffness, ... OMIM:139210
Mosaic Trisomy 9
Hypoplasia of penis, Corneal opacity, Abnormal fallopian tube morphology, Cryptorchidism, Patent ... ORPHA:99776
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Scol... OMIM:610743
Ruvalcaba Syndrome
Inguinal hernia, Short stature, Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty, Limited elb... OMIM:180870
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Gliosis, Astrocytosis OMIM:203700
Dyschondrosteosis-Nephritis Syndrome
Intrauterine growth retardation, Mesomelic short stature, Corneal opacity, Short stature ORPHA:1765
Frontofacionasal Dysplasia
Cataract, Microcornea, Absent inner eyelashes, Microphthalmia, Iris coloboma OMIM:229400
Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ... ORPHA:98853
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:143
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Corneal opacity, Small for gestational age, Hypospadias, Cryptorchidism, Patent ductus arteriosus... ORPHA:464311
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Hypoplastic sacrum, Sparse eyelashes, Absence of Stensen duct, Decreased respo... OMIM:604292
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Short stature, Abnormal dental enamel morphology, Kyphosis, Hem... ORPHA:2916
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Short stature, Limited wrist extension, Kyphosis, Distal art... OMIM:108145
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Short stature, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone mine... OMIM:616507
Woodhouse-Sakati Syndrome
Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog... OMIM:241080
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short stature, Fine hair, Hepatic fibrosis, Nail dysplasia, Sparse hair, Ascites, Aplasia/Hypopla... OMIM:614091
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Long eyebrows, Widow's peak, Long eyelashes, Small nail, Microphthalmia OMIM:201180
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Inguinal hernia, Microcytic anemia, Thrombocytopenia, Splenomegaly, Osteoporosis, I... OMIM:619525
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Central Diabetes Insipidus
Depression, Failure to thrive, Weight loss ORPHA:178029
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Esophageal carcinoma, Follicular hyperkeratosis OMIM:148500
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... OMIM:160980
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Psoriasiform lesion, Generalized morning stiffness, Limitation of joint ... ORPHA:85436
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Ky... OMIM:617602
Heart Defects-Limb Shortening Syndrome
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... ORPHA:1354
Cowden Syndrome 6
Kyphosis, Fibroadenoma of the breast, Palmoplantar hyperkeratosis, Breast carcinoma, Hydrocele te... OMIM:615109
Immunodeficiency, Common Variable, 10
Alopecia totalis, Trachyonychia, Psoriasiform dermatitis, Decreased response to growth hormone st... OMIM:615577
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Short stature, Hirsutism, Testicular adrenal rest tumor, Irregular menstruation, Polycy... ORPHA:90795
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Cerebellofaciodental Syndrome
Sparse eyebrow, Cryptorchidism, Cataract, Fine hair OMIM:616202
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Kyphosis, Long eyelashes,... ORPHA:79329
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... OMIM:613011
Bartsocas-Papas Syndrome 1
Omphalocele, Absent eyebrow, Alopecia, Sparse scalp hair, Inguinal hernia, Alopecia totalis, Shor... OMIM:263650
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth delay, Decreased mean corpuscu... ORPHA:300298
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hepatomegaly, Short stature, Ataxia, Autoimmune thrombocytopenia, Hypersplenism, Sple... ORPHA:77293
Cockayne Syndrome Type 1
Hepatomegaly, Lower limb spasticity, Foot joint contracture, Scarring, Hypermelanotic macule, Ata... ORPHA:90321
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Palmar hyperkeratosis, Dry skin, D... OMIM:150400
Cowden Syndrome 5
Kyphosis, Palmoplantar hyperkeratosis, Breast carcinoma, Hydrocele testis, Ovarian cyst, Hamartom... OMIM:615108
Linear Nevus Sebaceus Syndrome
Alopecia, Cavernous hemangioma, Melanocytic nevus, Growth delay, Vertebral segmentation defect, A... ORPHA:2612
Congenital Disorder Of Deglycosylation 1
Hepatomegaly, Involuntary movements, Chorea, Osteoporosis, Dysmetria, Athetosis, Hyperkinetic mov... OMIM:615273
Frank-Ter Haar Syndrome
Osteopenia, Redundant neck skin, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphos... OMIM:249420
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Ataxia, Joint stiffness, Splenomegaly, Spastic tetraplegia, Hypoplastic vertebral b... OMIM:230600
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic movements, Dystonia,... OMIM:619738
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Pancreatic fibrosis, Erythema, Pallor, Punctate keratitis, Failure to ... OMIM:557000
3Mc Syndrome 3
Bifid scrotum, Corneal opacity, Short stature, Cryptorchidism, Growth delay, Micropenis, Penoscro... OMIM:248340
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Corneal opacity, Coloboma, Ectopia pupillae, Lens subluxation, Microphthalmia ORPHA:85167
Stickler Syndrome
Short stature, Abnormal dental enamel morphology, Cachexia, Kyphosis, Hemiplegia/hemiparesis, Ost... ORPHA:828
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Joint stiffness, Flexion contracture, Knee osteoarthritis, Oli... ORPHA:85408
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Lipodystrophy, Thrombocytopenia, Splenomegaly, Flexion contractu... OMIM:617591
Benign Recurrent Intrahepatic Cholestasis
Pruritus, Cholelithiasis, Jaundice, Weight loss ORPHA:65682
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Rigidity, Kyphosis, Contra... ORPHA:521426
Fanconi Anemia, Complementation Group I
Microphthalmia, Astigmatism, Optic nerve hypoplasia OMIM:609053
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Short stature, Craniosynostosis, Sparse eyebrow, Small nail, Sparse hair, High ... OMIM:250410
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ... ORPHA:98855
Chronic Graft Versus Host Disease
Alopecia, Fasciitis, Pancytopenia, Thickened skin, Erythema, Flexion contracture, Skin ulcer, Wei... ORPHA:99921
Papillorenal Syndrome
Cataract, Lens luxation, Optic disc coloboma, Retinal coloboma, Microphthalmia OMIM:120330
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Generalized hyperpigmentation, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Abnormal... ORPHA:1071
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Chordee, Peters anomaly, Microphthalmia, Iris coloboma OMIM:309801
Amish Lethal Microcephaly
Hepatomegaly, Limitation of joint mobility, Osteoporosis, Decreased skull ossification, Limb hype... ORPHA:99742
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Redundant neck skin, Short neck, Thyroid lymphangiectasia, Cryptor... OMIM:235255
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Cryptorchidism, Jaundice, Hypoplasia of the thymus, Opacification of ... OMIM:214110
Dyrk1A-Related Intellectual Disability Syndrome
Corneal opacity, Eczema, Short stature, Small for gestational age, Anterior pituitary hypoplasia,... ORPHA:464306
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Ataxia, Splenomegaly, Abnorm... ORPHA:163746
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Short stature, Leukocytosis, Flexion contracture, Abdominal obesity, Hypoplasia of the ... OMIM:619321
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Kyphosis, Low anterior hairline, Spastic tetraplegia, Intrauterine growth re... OMIM:619909
Harlequin Ichthyosis
Hyperkeratosis, Congenital ichthyosiform erythroderma, Limitation of joint mobility, Ichthyosis ORPHA:457
Anaplastic Thyroid Carcinoma
Neoplasm of the skeletal system, Weight loss, Neoplasm of the lung, Malignant neoplasm of the cen... ORPHA:142
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal sign, Contrac... OMIM:617527
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Kyphosis, Paraparesis, Scoliosis ORPHA:99014
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity, Short stature ORPHA:1064
Adrenocortical Carcinoma
Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Abnormality of reproductive sys... ORPHA:1501
Autosomal Dominant Robinow Syndrome
Alopecia, Inguinal hernia, Femoral hernia, Camptodactyly of finger, Curly eyelashes, Short neck, ... ORPHA:3107
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Oculomotor apraxia ORPHA:3454
Mednik Syndrome
Growth delay, Erythema, Cataract OMIM:609313
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Severe short stature, Abnor... ORPHA:93314
Trichorhinophalangeal Syndrome, Type Ii
Osteopenia, Mild postnatal growth retardation, Bilateral cryptorchidism, Rib exostoses, Sparse ha... OMIM:150230
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Short stature, Angioke... ORPHA:324
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Weight loss, Opisthotonus, Attention deficit hyperactivity disorder, Cognit... ORPHA:216866
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Perry Syndrome
Tremor, Frontotemporal dementia, Depression, Weight loss, Dystonia OMIM:168605
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hyperpigmentation of the skin, Hypersplenism, Thrombocytopenia, Splen... OMIM:230800
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Lymphatic Malformation 12
Hydrocele testis, Hyperkeratosis, Inguinal hernia, Fetal ascites OMIM:620014
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia, Hypoplastic nipples OMIM:156610
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor ORPHA:713
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Abnormal hair pattern ORPHA:2717
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Alveolar Echinococcosis
Low back pain, Liver abscess, Ataxia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic... ORPHA:284
Oculopharyngodistal Myopathy
Vocal cord paresis, Paraplegia, Weight loss ORPHA:98897
Thanatophoric Dysplasia Type 2
Short stature, Redundant skin, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Pl... ORPHA:93274
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bon... OMIM:608594
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Cellulitis ORPHA:3165
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Primary hyperparathyroidism, Weight loss, Neoplasm of the lung, ... ORPHA:1332
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Splenom... OMIM:211600
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Highly arched eyebrow, Cryptorchidism, Kyphosis... OMIM:619005
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Inguinal hernia, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Kypho... OMIM:253200
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal colobo... ORPHA:959
Genitopatellar Syndrome
Hip contracture, Sparse scalp hair, Short stature, Cryptorchidism, Knee flexion contracture, Fine... ORPHA:85201
Moebius Syndrome
Microphthalmia, Hypogonadotropic hypogonadism, Decreased testicular size, Abnormality of the nail OMIM:157900
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis OMIM:615735
Aceruloplasminemia
Refractory anemia, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Ch... ORPHA:48818
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scolio... OMIM:606612
Ritscher-Schinzel Syndrome 3
Microphthalmia, Chorioretinal coloboma, Highly arched eyebrow, Cryptorchidism OMIM:619135
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Limb joint contracture, Short stature, Ataxia, Postural tremor, Splenomegaly, Micro... OMIM:301072
Autosomal Recessive Robinow Syndrome
Alopecia, Inguinal hernia, Sacral dimple, Camptodactyly of finger, Short neck, Cryptorchidism, Ky... ORPHA:1507
Spondyloenchondrodysplasia
Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Short stature, Decreased response to grow... ORPHA:1855
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Weight loss, Hepatosplenomegaly, Panniculitis, Hemophagocytosis ORPHA:86884
Scalp-Ear-Nipple Syndrome
Short stature, Sparse axillary hair, Sparse pubic hair, Thickened skin, Cardiac myxoma, Fine hair... OMIM:181270
Galactosialidosis
Conjunctival telangiectasia, Hemangioma, Severe short stature, Opacification of the corneal stroma OMIM:256540
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Hyperkeratosis, Platyspondyly, Intrauterine growth retardation ORPHA:163966
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... ORPHA:98957
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
6Q Terminal Deletion Syndrome
Joint laxity, Highly arched eyebrow, Short neck, Low anterior hairline, Obesity, Dysmetria, Gait ... ORPHA:75857
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab... ORPHA:54251
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Inguinal hernia, Short neck, Hyperlordosis, Cryptorchidism, Kyphosis, ... ORPHA:2789
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proporti... ORPHA:3261
Reactive Arthritis
Osteomyelitis, Joint stiffness, Weight loss, Enthesitis, Hyperkeratosis, Arthritis, Dystrophic fi... ORPHA:29207
Stevenson-Carey Syndrome
Microphthalmia, Coloboma OMIM:611961
Familial Isolated Hyperparathyroidism
Osteopenia, Primary hyperparathyroidism, Parathyroid adenoma, Chondrocalcinosis, Generalized oste... ORPHA:99879
Cockayne Syndrome Type 3
Splenomegaly, Astrocytosis ORPHA:90324
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor,... ORPHA:29072
Cranioectodermal Dysplasia 2
Joint laxity, Hepatomegaly, Inguinal hernia, Sparse eyelashes, Cholangitis, Short stature, Short ... OMIM:613610
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnormality of the testis size, Eosi... ORPHA:400
Immunodeficiency 55
Absent natural killer cells, Short stature, Myelodysplasia, Postnatal growth retardation, Neutrop... OMIM:617827
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Wrinkly Skin Syndrome
Osteopenia, Inguinal hernia, Short stature, Redundant skin, Short nail, Joint hypermobility, Cryp... OMIM:278250
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Epidermal acanthosis OMIM:610227
2Q31.1 Microdeletion Syndrome
Hypoplastic toenails, Cryptorchidism, Synophrys, Abnormal hair morphology, Low anterior hairline,... ORPHA:251014
Marfan Syndrome
Cataract, Ectopia lentis, Microspherophakia, Increased axial length of the globe, Hypoplasia of t... OMIM:154700
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Piebaldism, Partial albinism, Albinism OMIM:300700
Wolfram Syndrome 1
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Growth delay, Thrombocytopenia OMIM:222300
African Trypanosomiasis
Hepatomegaly, Alopecia, Abnormal central motor function, Involuntary movements, Abnormality of th... ORPHA:3385
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Tracheobronchial leiomyomatosis, Cataract, Diffuse leiomyomatosis, Vaginal neoplasm, Vulvar neopl... ORPHA:1018
Degcags Syndrome
Osteopenia, Synophrys, Low anterior hairline, Vocal cord paralysis, Premature graying of hair, Ab... OMIM:619488
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Hepatomegaly, Absent platelet dense granules, Albinism, Decreased... OMIM:608233
Curry-Jones Syndrome
Microphthalmia, High anterior hairline, Iris coloboma, Hirsutism OMIM:601707
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Short stature, Short neck, Kyphosis, Biliary tract abnormality, Obesity, Scolios... ORPHA:3191
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradykinesia, Myoclonus, T... OMIM:137440
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Chorea, Abnormal pyramidal sign, Gait ataxia, Abnormality of extrapyramidal motor funct... ORPHA:500180
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Muenke Syndrome
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hypopigmented skin patches, C... ORPHA:53271
Distal Deletion 19P
Alopecia, Vaginal hernia, Joint hyperflexibility, Umbilical hernia, Keloids, Thick eyebrow ORPHA:96129
Knobloch Syndrome 2
Anterior cortical cataract OMIM:618458
Mucolipidosis Type Iv
Palmoplantar keratoderma, Corneal opacity ORPHA:578
Ogden Syndrome
Redundant neck skin, Redundant skin, Short neck, Cardiomegaly, Microvesicular hepatic steatosis, ... OMIM:300855
Primary Intestinal Lymphangiectasia
Disseminated cutaneous warts, Weight loss, Growth delay, Decreased proportion of CD3-positive T c... ORPHA:90362
X-Linked Intellectual Disability Due To Gria3 Mutations
Joint laxity, Short stature, Cryptorchidism, Kyphosis, Babinski sign, Myoclonus, Scoliosis, Spast... ORPHA:364028
Myopathy, Centronuclear, 2
Hyperlordosis, Kyphosis, Flexion contracture, Scoliosis, Intrauterine growth retardation OMIM:255200
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Microcornea, Retinal coloboma, Facial hirsutism, Iris coloboma ORPHA:2839
Hawkinsinuria
Sparse hair, Failure to thrive, Hypertyrosinemia OMIM:140350
Williams Syndrome
Osteopenia, Redundant skin, Cardiomegaly, Hypoplastic toenails, Tremor, Abnormal form of the vert... ORPHA:904
3Q29 Microdeletion Syndrome
Microphthalmia, Cataract ORPHA:65286
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Multiple Pterygium-Malignant Hyperthermia Syndrome
Inguinal hernia, Severe short stature, Camptodactyly of finger, Cryptorchidism, Kyphosis, Hyperco... ORPHA:2215
Achondroplasia
Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Kyphosis, Disproportionate short statu... ORPHA:15
Liposarcoma
Weight loss, Sarcoma ORPHA:69078
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Failure to thrive, Short neck, Kyphosis, Hepatosplenomegaly, Ascites OMIM:608776
Proboscis Lateralis
Abnormal eyebrow morphology, Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Abn... ORPHA:141099
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Small for gestational age, Short stature, Kyphoscoliosis, Kyphosis, Delayed epiphys... ORPHA:93360
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Generalized hyperpigmentation, Elevated circulating luteinizing hormone level, Cryptorchidism, De... ORPHA:168558
Cystinosis, Nephropathic
Male infertility, Hepatomegaly, Hypopigmentation of hair, Failure to thrive in infancy, Short sta... OMIM:219800
Fontaine Progeroid Syndrome
Redundant skin, Synophrys, Low anterior hairline, Coarse hair, Short stature, Cryptorchidism, Sma... OMIM:612289
1Q21.1 Microdeletion Syndrome
Microphthalmia, Cataract, Iris coloboma, Cryptorchidism ORPHA:250989
Blau Syndrome
Clear cell renal cell carcinoma, Cataract, Skin rash, Keratitis, Erythema nodosum, Erythema, Skin... ORPHA:90340
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased... OMIM:259770
Cerebrotendinous Xanthomatosis
Ataxia, Babinski sign, Abnormal pyramidal sign, Osteoporosis, Ankle clonus, Pseudobulbar paralysi... OMIM:213700
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity, Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Short stature, Acu... ORPHA:1052
Sarcoidosis
Hemolytic anemia, Alopecia, Hepatomegaly, Hyperpigmentation of the skin, Scarring, Portal hyperte... ORPHA:797
Graves Disease, Susceptibility To, 1
Goiter, Irritability, Weight loss OMIM:275000
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Generalized hyperpigmentation, Elevated circulating luteinizing hormone level, Cryptorchidism, De... ORPHA:289548
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Macronodular adrenal hyperplasia, Increased body weight, Osteoporosis OMIM:615954
Myoclonic-Astatic Epilepsy
Microphthalmia, Frontal balding ORPHA:1942
Clark-Baraitser syndrome
Joint laxity, Kyphosis, Obesity, Scoliosis, Macroorchidism OMIM:300602
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Gaucher Disease
Osteopenia, Tremor, Osteoarthritis, Abnormality of skin pigmentation, Hepatomegaly, Increased bon... ORPHA:355
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:99880
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Abnormal hair morphology, Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Joint stiffness, Splenomegaly, Kyphosis, Disproportionate sho... ORPHA:583
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia ORPHA:90060
Cdags Syndrome
Sparse scalp hair, Porokeratosis, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, Ky... OMIM:603116
Intellectual Developmental Disorder, Autosomal Dominant 57
Short stature, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of t... OMIM:618050
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Short stature, Short neck, Kyphosis, Achilles tendon contracture, Flexion contra... OMIM:301041
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Developmental cataract OMIM:127000
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Adrenal pheochromocytoma, ... ORPHA:276621
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Sacral dimple, Large for gestational age, Kyphosis, Umbilical hernia, Nephroblas... OMIM:618272
8P23.1 Microdeletion Syndrome
Short stature, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Obesity, Weight loss, Growt... ORPHA:251071
Galloway-Mowat Syndrome 1
Cataract, Hypoplasia of the iris, Small nail, Opacification of the corneal stroma, Microphthalmia OMIM:251300
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cataract, Sparse eyelashes, Sparse eyebrow, Widow's peak, Microphthalmia ORPHA:306542
Angioedema, Hereditary, 1
Angioedema, Erythema OMIM:106100
Meige Disease
Skin ulcer, Atypical scarring of skin, Angiosarcoma, Cobblestone-like hyperkeratosis, Cellulitis ORPHA:90186
Marshall Syndrome
Short stature, Sparse eyelashes, Sparse eyebrow, Osteoarthritis, Sparse hair ORPHA:560
Congenital Tufting Enteropathy
Cataract, Corneal erosion, Weight loss, Irritability, Punctate keratitis, Failure to thrive ORPHA:92050
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... OMIM:619040
Williams-Beuren Syndrome
Osteopenia, Flexion contracture, Vocal cord paralysis, Premature graying of hair, Medial flaring ... OMIM:194050
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, Opisthotonus, T lymphocytopenia, Hyperton... ORPHA:508533
Attrv30M Amyloidosis
Impotence, Weight loss ORPHA:85447
Phosphoribosylpyrophosphate Synthetase Superactivity
Ataxia, Small for gestational age, Short stature, Cryptorchidism, Gout, Sparse hair OMIM:300661
Somatomammotropinoma
Dysmenorrhea, Synophrys, Osteoarthritis, Pituitary prolactin cell adenoma, Acanthosis nigricans, ... ORPHA:314769
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Proportionate short stature, Pustule, Atopic dermatitis, Weight los... ORPHA:171876
Dyggve-Melchior-Clausen Disease
Severe short stature, Rhizomelia, Corneal opacity, Disproportionate short-trunk short stature, Di... ORPHA:239
Liver Disease, Severe Congenital
Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated h... OMIM:619991
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Chorea, Reduced bone mineral density, Hepatomegaly, Micronodula... ORPHA:404454
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o... OMIM:313400
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger,... ORPHA:2311
Hutchinson-Gilford Progeria Syndrome
Osteoarthritis, Reduced bone mineral density, Dystrophic fingernails, Limitation of movement at a... ORPHA:740
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia, Weight loss ORPHA:2070
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Stüve-Wiedemann Syndrome
Osteopenia, Sacral dimple, Short stature, Camptodactyly of finger, Recurrent fractures, Flexion c... ORPHA:3206
Teebi-Shaltout Syndrome
Slow-growing hair, Short stature, Highly arched eyebrow, Low anterior hairline, Camptodactyly, Sp... OMIM:272950
Seckel Syndrome 2
Microphthalmia OMIM:606744
Mucolipidosis Iii Gamma
Short stature, Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Scoliosis OMIM:252605
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Low anterior hairline, Highly arched eyebrow, Cryptorchidism ORPHA:404440
Crisponi Syndrome
Camptodactyly of finger, Kyphosis, Flexion contracture, Limitation of joint mobility, Hypertonia,... ORPHA:1545
Kaufman Oculocerebrofacial Syndrome
Short stature, Ovoid vertebral bodies, Sparse eyebrow, Thin skin, Sparse hair, Failure to thrive OMIM:244450
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Sclerocornea OMIM:300952
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Redundant skin, Severe short stature, Kyphosis, Disproportionat... OMIM:616482
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Delayed epiphyseal os... OMIM:602557
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity, Synophrys, Thin eyebrow, Small nail, Microphthalmia ORPHA:364577
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Sparse eyebrow, Developmental cataract, Microcornea, Microphthalmia ORPHA:464738
Emanuel Syndrome
Inguinal hernia, Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Cryptorchidism, Kyp... OMIM:609029
Chromosome 6Pter-P24 Deletion Syndrome
Patent ductus arteriosus, Telangiectasia, Axenfeld anomaly, Opacification of the corneal stroma, ... OMIM:612582
Adams-Oliver Syndrome 5
Inguinal hernia, Hypoplastic toenails, Portal vein thrombosis, Hypersplenism, Splenomegaly, Caver... OMIM:616028
Brucellosis
Liver abscess, Chorea, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Hepatomegaly, L... ORPHA:1304
Simple Cryoglobulinemia
Purpura, B-cell lymphoma, Progressive neurologic deterioration, Chronic lymphatic leukemia, Weigh... ORPHA:91139
Multiple Myeloma
Osteopenia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Lymphadenop... ORPHA:29073
Orofaciodigital Syndrome I
Alopecia, Dry hair, Short stature, Hamartoma of tongue, Pancreatic cysts, Ovarian cyst, Hepatic f... OMIM:311200
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Galloway-Mowat Syndrome 9
Choreoathetosis, Coarse hair, Hiatus hernia OMIM:619603
Multiple Sulfatase Deficiency
Rapid neurologic deterioration, Corneal opacity, Short stature OMIM:272200
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Growth delay, Acrocyanosis, Heteroch... ORPHA:1764
Weismann-Netter Syndrome
Severe short stature, Kyphosis, Horizontal sacrum, Scoliosis, Calvarial hyperostosis OMIM:112350
Proteasome-Associated Autoinflammatory Syndrome 4
Erythema OMIM:619183
Sponastrime Dysplasia
Microcoria, Cataract, Congenital aphakia ORPHA:93357
Hyperlysinemia
Neck hypertonia, Short stature, Poor motor coordination, Spastic tetraparesis, Craniosynostosis, ... ORPHA:2203
Multiple Pterygium Syndrome, Escobar Variant
Exostosis of the external auditory canal, Inguinal hernia, Multiple joint contractures, Short sta... OMIM:265000
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Spastic hemiparesis, Leukocytosis, Weight loss, Leukopenia, Pallor, Myoclonus, Thrombocyt... ORPHA:20
Familial Mediterranean Fever
Orchitis, Erysipelas, Erythema, Skin rash ORPHA:342
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Low anterior hairline, Obesity ORPHA:261222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Cataract OMIM:253800
Mycophenolate Mofetil Embryopathy
Hypoplastic toenails, Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:268249
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... OMIM:618877
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Marden-Walker Syndrome
Inguinal hernia, Short neck, Postnatal growth retardation, Cryptorchidism, Kyphosis, Congenital c... OMIM:248700
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hyperkeratosis, High anterior hairline, Ataxia, Spasticity OMIM:615510
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Ataxia, Obesity, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Supernumerary nipple, Sparse eyebrow, Synophrys, Microphthalmia, High anterior hairline, Thick ey... OMIM:620098
Duane-Radial Ray Syndrome
Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma OMIM:607323
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Short stature, Opacification of the corneal stroma OMIM:215250
Mosaic Trisomy 8
Cryptorchidism, Corneal opacity, Decreased testicular size, Short stature ORPHA:96061
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Lower limb spasticity,... OMIM:615846
Zimmermann-Laband Syndrome 1
Hepatomegaly, Thick eyebrow, Hyperextensibility of the finger joints, Thick hair, Highly arched e... OMIM:135500
Urachal Cyst
Erythema, Neoplasm ORPHA:488
Atelis Syndrome 2
Microphthalmia, Remnants of the hyaloid vascular system, Developmental cataract OMIM:620185
Sympathetic Ophthalmia
Cataract, Erythema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Corneal ... ORPHA:79098
Malignant Peritoneal Mesothelioma
Neoplasm, Weight loss ORPHA:168811
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Iris coloboma, Supernumerary nipple ORPHA:1236
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Joint hyperflexibility, Scoliosis, Hemiplegia, Umbilical hernia ORPHA:2181
Cole-Carpenter Syndrome 2
Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, Kyphosis, Platyspon... OMIM:616294
Yao Syndrome
Inflammatory abnormality of the skin, Keratoconjunctivitis sicca, Skin rash, Weight loss OMIM:617321
Jacobsen Syndrome
Abnormal eyelash morphology, Cryptorchidism, Microcornea, Macular hypoplasia, Chorioretinal colob... OMIM:147791
Hydrolethalus
Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:2189
Fanconi Anemia
Reduced bone mineral density, Abnormality of skin pigmentation, Leukopenia, Abnormality of the li... ORPHA:84
Joubert Syndrome 14
Microphthalmia, Coloboma, Highly arched eyebrow OMIM:614424
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Steinfeld Syndrome
Microphthalmia, Retinal coloboma, Iris coloboma OMIM:184705
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Lymphatic Filariasis
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel... ORPHA:2035
Osteootohepatoenteric Syndrome
Recurrent fractures, Microvesicular hepatic steatosis, Cholestasis, Weight loss, Reduced bone min... OMIM:619377
Pseudoachondroplasia
Joint laxity, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the odontoid process, Ky... OMIM:177170
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Mucopolysaccharidosis Type 4
Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Grayish enamel, Kyph... ORPHA:582
Chronic Actinic Dermatitis
Actinic keratosis, Epidermal acanthosis ORPHA:330064
Postencephalitic Parkinsonism
Resting tremor, Camptocormia, Involuntary movements, Oculogyric crisis, Rigidity, Kyphosis, Babin... ORPHA:97349
Al-Gazali Syndrome
Failure to thrive, Corneal opacity, Sclerocornea OMIM:609465
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Cryptorchidism OMIM:618494
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth d... OMIM:301078
Glycogen Storage Disease Ia
Hepatomegaly, Short stature, Delayed puberty, Osteoporosis, Gout, Growth delay, Hepatocellular ca... OMIM:232200
Acromegaly
Generalized hyperpigmentation, Abnormal fingernail morphology, Dysmenorrhea, Elevated circulating... ORPHA:963
Vacterl With Hydrocephalus
Microcornea, Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:3412
Aicardi-Goutières Syndrome
Multiple joint contractures, Cardiomegaly, Tremor, Abnormal pyramidal sign, Hypertonia, Extrapyra... ORPHA:51
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Microphthalmia With Limb Anomalies
Abnormal eyelash morphology, Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Ermine Phenotype
Hypopigmentation of hair, Short stature, Ocular albinism, Hypopigmented skin patches, Irregular h... ORPHA:999
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Osteoporosis OMIM:601979
Beta-Ketothiolase Deficiency
Ataxia, Leukocytosis, Weight loss, Pallor, Extrapyramidal dyskinesia, Thrombocytosis, Spasticity ORPHA:134
Harrod Syndrome
Cryptorchidism, Kyphosis, Hypopigmented skin patches, Joint hyperflexibility, Scoliosis, Intraute... ORPHA:2115
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Dubowitz Syndrome
Sparse scalp hair, Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris col... OMIM:223370
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Distal Deletion 12Q
Unilateral cryptorchidism, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Short statur... ORPHA:96149
Thymic Carcinoma
Neoplasm of the thymus, Diaphragmatic paralysis, Weight loss ORPHA:99868
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Ataxia, Portal hypertension, Splenomega... OMIM:615688
Monosomy 13Q14
Microphthalmia, Cataract, Iris coloboma ORPHA:1587
Zttk Syndrome
Absent gallbladder, Curly hair, Short stature, Joint hypermobility, Craniosynostosis, Sparse eyeb... OMIM:617140
Meckel Syndrome
Anophthalmia, Cataract, Sclerocornea, Cryptorchidism, Aplasia/Hypoplasia of the iris, Microcornea... ORPHA:564
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Low back pain, Psoriasiform dermatitis, Elevated circulating creatinine concen... ORPHA:49041
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Sparse eyebrow, Cryptorchidism, Small nail, Microphthalmia OMIM:612530
Castleman Disease
Myelofibrosis, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal l... ORPHA:160
Autosomal Recessive Ataxia, Beauce Type
Lower limb spasticity, Ataxia, Kyphosis, Babinski sign, Dysmetria, Clumsiness, Ankle clonus, Arm ... ORPHA:88644
Fetal Alcohol Syndrome
Microphthalmia, Generalized hirsutism ORPHA:1915
Carpenter Syndrome 1
Short stature, External genital hypoplasia, Precocious puberty, Cryptorchidism, Patent ductus art... OMIM:201000
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Primary Biliary Cholangitis
Portal hypertension, Jaundice, Osteoporosis, Biliary cirrhosis, Hepatitis, Abnormal intrahepatic ... ORPHA:186
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Craniofacial hyperostosis, Short stature, Redundant skin, Ky... ORPHA:192
Fryns Syndrome
Microphthalmia, Hypoplastic fingernail, Corneal opacity, Cryptorchidism ORPHA:2059
Polycythemia Vera
Myelodysplasia, Pruritus, Weight loss, Acute leukemia, Bruising susceptibility ORPHA:729
Pachyonychia Congenita 3
Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail dystrophy, Fol... OMIM:615726
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis OMIM:618531
3C Syndrome
Inguinal hernia, Short stature, Short neck, Postnatal growth retardation, Kyphosis, Hemivertebrae... ORPHA:7
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Cryptorchidism, Microcornea, Opacification of the corneal stroma, Anterior chamber s... OMIM:601499
Scorpion Envenomation
Mydriasis, Tremor, Erythema, Priapism, Purpura ORPHA:466677
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse scalp hair, Short stature, Anterior pituitary hypoplasia, Highly arched eyebrow, Aplasia o... OMIM:619841
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Kyphosis, Babinski sign, Flexion contracture, Spastic paraplegia, A... OMIM:609541
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Inguinal hernia, Failure to thrive, Intermittent thrombocytopenia, Cryptorchidism, ... OMIM:612541
Treacher-Collins Syndrome
Cataract, Absent eyelashes, Cryptorchidism, Abnormal hair morphology, Low anterior hairline, Micr... ORPHA:861
Thanatophoric Dysplasia Type 1
Redundant skin, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Excessive wrinkl... ORPHA:1860
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Goiter, Weight loss OMIM:613239
Poland Syndrome
Congenital diaphragmatic hernia, Short neck, Retinal hamartoma, Cryptorchidism, Kyphosis, Absence... ORPHA:2911
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Short stature, Short neck, Hypoplasia of the odontoid pro... OMIM:607326
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Short stature, Scoliosis ORPHA:1858
Colchicine Poisoning
Leukocytosis, Alopecia ORPHA:31824
Pilomatrixoma
Pilomatrixoma OMIM:132600
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Abnormality of the hairline OMIM:248450
Alexander Disease
Osteopenia, Ataxia, Clonus, Hyperlordosis, Short neck, Kyphosis, Tremor, Chorea, Abnormal pyramid... ORPHA:58
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Severe short stature, Femoral hernia, Redundant skin, Abnormal dental enamel mor... ORPHA:2658
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Kyphosis, Decreased testicular size OMIM:615433
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... OMIM:183900
Cono-Spondylar Dysplasia
Short nail, Short neck, Kyphosis, Poor coordination, Scoliosis, Failure to thrive ORPHA:420794
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, ... ORPHA:71493
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Short neck, Synophrys, Sparse hair, Thick eyebrow, Limb hypertonia OMIM:609460
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Osteomyelitis, Ataxia, Truncal titubation, Kyphosis, Gai... ORPHA:88628
Non-Acquired Panhypopituitarism
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... ORPHA:90695
Cousin Syndrome
Microcornea, Microphthalmia, Low anterior hairline, Facial hirsutism OMIM:260660
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Q Fever
Hepatomegaly, Osteomyelitis, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly, Lymph... ORPHA:781
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Corneal scarring, Developmental cataract, Microphthalmia, Dense posterior cortica... OMIM:309000
Mosaic Trisomy 1
Microphthalmia, Small nail, Hypoplastic thumbnail, Opacification of the corneal stroma ORPHA:1692
Fish-Eye Disease
Corneal opacity ORPHA:79292
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Inflammatory abnormality of the skin, Vaginal dryness, Skin rash, Symb... ORPHA:95455
Relapsing Polychondritis
Cataract, Keratitis, Erythema, Conjunctivitis, Purpura ORPHA:728
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Weight loss, Lymphadenopathy, Hernia, Ascites ORPHA:26790
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... OMIM:609734
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Hyperlordosis, Flexion contracture, Osteoporosis, Scoliosis, Left ven... ORPHA:365
Pneumocystosis
Neoplasm, Weight loss, Abnormal neutrophil count ORPHA:723
Ablepharon-Macrostomia Syndrome
Ventral hernia, Absent eyebrow, Omphalocele, Redundant skin, Absent eyelashes, Hypoplastic nipple... OMIM:200110
Vici Syndrome
Hypopigmentation of hair, Failure to thrive, Albinism, Postnatal growth retardation, Decreased pr... OMIM:242840
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Coffin-Siris Syndrome 1
Dry hair, Congenital diaphragmatic hernia, Gait ataxia, Spina bifida occulta, Joint laxity, Short... OMIM:135900
Pleural Mesothelioma
Hepatomegaly, Weight loss, Lymphadenopathy ORPHA:50251
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Abnormal fingernail morphology, Thick hair, Decreased response to growth hormone stim... ORPHA:444077
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Hyperconvex fingernails, Accessory spleen, Vertebral fusio... OMIM:194190
Glycerol Kinase Deficiency
Small for gestational age, Short stature, Chronic pancreatitis, Cryptorchidism, Osteoporosis, Gro... OMIM:307030
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Hypergonadotropic hypogonadism, Spinal rigidity OMIM:615084
Biotinidase Deficiency
Alopecia, Ataxia, Spastic paraparesis ORPHA:79241
Hereditary Late-Onset Parkinson Disease
Resting tremor, Depression, Weight loss, Dementia, Low frustration tolerance, Dystonia, Mental de... ORPHA:411602
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thoracic scoliosis, Absent nipple, Aplasia of the thymus, Short stature, Sparse eyebrow, Hydrocel... OMIM:620186
Glossopharyngeal Neuralgia
Depression, Schwannoma, Neoplasm, Weight loss ORPHA:221098
Distal Triplication 15Q
Craniosynostosis, Large for gestational age, Kyphosis, Flexion contracture, Hydrocele testis, Sco... ORPHA:314588
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Palmoplantar keratoderma, Squamous cell carcinoma of the skin ORPHA:85112
Dysostosis, Stanescu Type
Increased bone mineral density, Short stature, Abnormal dental enamel morphology, Hyperlordosis, ... ORPHA:1798
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Breast carcinoma, Short eyelashes, Spars... OMIM:608615
Peters Plus Syndrome
Cataract, Corneal opacity, Short stature, Rhizomelia, Hypospadias, Postnatal growth retardation, ... ORPHA:709
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Kyphosis, Synophrys, Gait ataxia, Scoliosis, Failure to thrive ORPHA:476126
Familial Glucocorticoid Deficiency
Precocious puberty, Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Azoospermia, Leyd... ORPHA:361
Multiple Endocrine Neoplasia, Type Iib
Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis,... OMIM:162300
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Clonus, Synophrys, Abnormal curvature of the vertebral column, Abnormality of skin pig... OMIM:619475
Congenital Ptosis
Cafe-au-lait spot, Long eyelashes, Piebaldism, Premature ovarian insufficiency ORPHA:91411
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Idiopathic Chronic Eosinophilic Pneumonia
Generalized abnormality of skin, Atopic dermatitis, Weight loss ORPHA:2902
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Pallor, Poikilocytosis, Prol... OMIM:300908
Lcat Deficiency
Corneal opacity ORPHA:650
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Tremor, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251100
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Short stature, Pilomatrixoma, Patent ductus arteriosus, Obesity, Spinal cord tumor, Growth delay,... ORPHA:353281
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Freckling, Albinism, Ocular albinism, Me... OMIM:203300
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:2470
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contracture, Scoliosis, Arthrogrypo... OMIM:618291
Kawasaki Disease
Skin rash, Jaundice, Irritability, Conjunctivitis, Palmoplantar erythema ORPHA:2331
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Cataract, Short stature, Rhizomelia, Sclerocornea, Facial capillary hemangio... ORPHA:818
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Hypertonia, Multiple cafe-au-lait spots, Fr... ORPHA:3214
Branchiooculofacial Syndrome
Supernumerary nipple, Short neck, Hyperlordosis, Cryptorchidism, Kyphosis, Postnatal growth retar... OMIM:113620
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Hiatus hernia, Cryptorchidism, Reduced bone mineral density, Scoliosis, Nail dysplasia, Sparse hair OMIM:616682
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Inguinal hernia, Short stature, Highly arched eyebrow, K... OMIM:303600
Baller-Gerold Syndrome
Severe short stature, Short stature, Erythema, Perineal fistula, Astigmatism, Rectovaginal fistul... OMIM:218600
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Pre... ORPHA:3440
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Alg1-Cdg
Kyphosis, Limitation of joint mobility, Scoliosis ORPHA:79327
Steinert Myotonic Dystrophy
Endometrial carcinoma, Alopecia, Brain neoplasm, Hypergonadotropic hypogonadism, Decreased respon... ORPHA:273
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Corneal dystrophy, Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absenc... ORPHA:495875
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Redundant neck skin, Hypospadias, Brushfield spots, Cryptorchidism, Patent ductus arter... OMIM:214100
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Angiokeratoma ... ORPHA:79280
Monosomy 9Q22.3
Microphthalmia, Cataract ORPHA:77301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Buphthalmos, Coloboma, Hypoplasia of the retina, Opacification of the corneal stroma, M... OMIM:253280
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... OMIM:235700
Ménétrier Disease
Hypochromic microcytic anemia, Weight loss ORPHA:2494
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Ataxia, Hypogonadotropic hypogonadism, Retroperito... ORPHA:35687
Primary Hepatic Neuroendocrine Carcinoma
Intermittent jaundice, Neoplasm of the lung, Weight loss, Neoplasm of the nervous system, Facial ... ORPHA:100085
Systemic Capillary Leak Syndrome
Leukocytosis, Multiple myeloma, Weight loss ORPHA:188
Basal Cell Nevus Syndrome 1
Microphthalmia, Cataract, Iris coloboma OMIM:109400
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Elbow flexion contra... OMIM:619194
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Kyphosis, Abdominal situs inversus, Camptodactyly, Aplasia/Hypoplasia o... OMIM:619123
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Stomatocytosis,... OMIM:153670
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Short stature, Widow's peak, Joint hyperflexibility, Coarse hair ORPHA:1974
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Short neck, Postna... OMIM:223800
Trichotillomania
Alopecia OMIM:613229
Melnick-Needles Syndrome
Omphalocele, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Osteolytic defects of the ... OMIM:309350
Gaisböck Syndrome
Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Gout, Inc... ORPHA:90041
Autosomal Dominant Cutis Laxa
Redundant neck skin, Corneal opacity, Redundant skin, Prematurely aged appearance, Postnatal grow... ORPHA:90348
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Familial Pancreatic Carcinoma
Back pain, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hepatosplenomegaly, Lym... ORPHA:1333
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Cutis marmorata, Weight loss, Urticaria, Acrocyanosis, Purpura ORPHA:183
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Short stature, Camptodactyly of finger, Joint stiffness, Cryptorchid... ORPHA:1606
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Elbow flexion contracture OMIM:618138
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Hypergonadotropic hypogonadism, Spinal rigidity ORPHA:352447
Chronic Beryllium Disease
Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Cat Eye Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:115470
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ... ORPHA:2062
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, Inguinal hernia, Kyphoscoliosis, Atlantoaxial instability, Cutis laxa, Atrophic scars... OMIM:614557
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Small for gestational age, Hypospadias, Brushfield spots, Cryptorchidism, Jaundice, Ath... OMIM:614866
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ... OMIM:175780
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cryptorchidism, Widow's peak, Coloboma, Small nail, Peters anomaly, Microphthalmia, Broad eyebrow OMIM:616975
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Overweight, Cryptorchidism, Kyphosis, Flexion contracture, Hypogonadism, Scoliosis... ORPHA:500055
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Short stature, Trichiasis, Highly arched eyebrow, Postnatal growth retardation, Pilomatrixoma, Pa... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Short stature, Trichiasis, Highly arched eyebrow, Postnatal growth retardation, Pilomatrixoma, Pa... ORPHA:353277
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Inguinal hernia, Recurrent fractures, Multiple prenatal fractures, Kyph... OMIM:610915
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Tremor, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:274150
Al Amyloidosis
Hepatomegaly, Howell-Jolly bodies, Weight loss, Abnormality of the liver, Abnormal salivary gland... ORPHA:85443
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Inguinal hernia, Osteoarthritis of the small joints of the hand, Left ventricular h... ORPHA:284984
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Mongolian blue spot, Dry hair, Low anterior hairline, Spasticity OMIM:618569
Mend Syndrome
Microphthalmia, Cataract, Cryptorchidism ORPHA:401973
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis, Frequent falls OMIM:607155
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Sacral dimple, Short stature, Short neck, Cryptorchidism, Kyphosis, Long eyelashes, ... OMIM:616894
Stickler Syndrome, Type I
Joint stiffness, Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Morbus Scheuermann, Scoliosi... OMIM:108300
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Elevated circulating growth hormone ... ORPHA:97283
Tangier Disease
Dry skin, Opacification of the corneal stroma OMIM:205400
Typical Nemaline Myopathy
Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Arthrogrypo... ORPHA:171436
Choreoacanthocytosis
Chorea, Hypertonia, Limb dystonia, Laryngeal dystonia, Hepatomegaly, Self-mutilation of tongue an... ORPHA:2388
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short stature, Kyphosis, Synophrys, Bilateral camptodactyly, Growth delay, Scoliosis OMIM:619557
Neuroendocrine Tumor Of The Colon
Weight loss, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Facial telangiectasia ORPHA:100080
Chromosome 13Q14 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:613884
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Rhizomelia, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyl... OMIM:618019
Alpha-Mannosidosis, Infantile Form
Short attention span, Cataract, Corneal opacity, Confusion, Depression, Astigmatism ORPHA:309282
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Lipoatrophy, Cranio... OMIM:616914
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... ORPHA:177907
Trisomy 9P
Sacral dimple, Short neck, Hypoplastic toenails, Kyphosis, Fingernail dysplasia, Scoliosis, Hypop... ORPHA:236
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Singleton-Merten Syndrome 1
Osteopenia, Short stature, Cardiomegaly, Osteoporosis, Osteolytic defects of the phalanges of the... OMIM:182250
Holoprosencephaly
Anophthalmia, Highly arched eyebrow, Cryptorchidism, Synophrys, Chorioretinal coloboma, Microphth... ORPHA:2162
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Intrauterine growth retardation, Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity, Short stature, Facial capillary hemangioma, Seborrheic dermatitis, Pan... OMIM:274000
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Short stature, Camptodactyly of finger, Highly arched eyebrow, Short neck, ... OMIM:143095
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Weight loss, Pulmonary carcinoid tumor, Facial... ORPHA:97287
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Ataxia, Short stature, Kyphosis, Joint hyperflexibility, Scoliosis ORPHA:2479
Scheie Syndrome
Corneal opacity ORPHA:93474
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Kyphosis, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fasciculations, Scoliosi... OMIM:211530
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Focal Myositis
Weight loss ORPHA:48918
Malt Lymphoma
B-cell lymphoma, Anemia, Weight loss ORPHA:52417
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Cryptorchidism OMIM:241410
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sacral dimple, Redundant neck skin, Short stature, Short neck, Pseudohypoparathyroidism, Obesity,... OMIM:617157
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Decreased testicular size, Developmental cataract ORPHA:93325
Parkinson Disease 4, Autosomal Dominant
Dementia, Weight loss OMIM:605543
Tetraamelia Syndrome 1
Microphthalmia, Cataract OMIM:273395
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Failure to thrive, Periodic paralysis, Splenomegaly, Growth delay... OMIM:276700
Aicardi Syndrome
Microphthalmia, Optic disc coloboma, Cataract, Sparse lateral eyebrow OMIM:304050
Ring Chromosome 13 Syndrome
Alopecia, Hypoplasia of the gallbladder, Short neck, Abnormality of skin pigmentation, Growth del... ORPHA:96176
Viss Syndrome
Exostosis of the external auditory canal, Sparse scalp hair, Alopecia, Inguinal hernia, Short sta... OMIM:619472
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Cryptorchidism ORPHA:2728
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Grfoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... ORPHA:97261
Microphthalmia, Syndromic 2
Anophthalmia, Remnants of the hyaloid vascular system, Cryptorchidism, Phthisis bulbi, Developmen... OMIM:300166
Pseudotrisomy 13 Syndrome
Microphthalmia, Cyclopia, Cryptorchidism OMIM:264480
Neuroendocrine Tumor Of Stomach
Weight loss, Iron deficiency anemia, Paraganglioma, Atypical pulmonary carcinoid tumor, Carcinoid... ORPHA:100075
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Head titubation, Kyphosis, Dysmetria, Knee flexion contracture, Dystonia, Lymphopenia, In... OMIM:619708
Renal Nutcracker Syndrome
Dyspareunia, Dysmenorrhea, Weight loss, Infertility, Anemia ORPHA:71273
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Coloboma, Retinal coloboma, Microphthalmia, Iris coloboma, Hypertrichosis ORPHA:508498
Osteosarcoma
Pathologic fracture, Osteolysis, Weight loss ORPHA:668
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Cyclopia, Iris coloboma ORPHA:3186
Aspartylglucosaminuria
Joint laxity, Hepatomegaly, Aspartylglucosaminuria, Short stature, Kyphosis, Vacuolated lymphocyt... OMIM:208400
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Osteopenia, Curly hair, Sacral dimple, Hyperextensible thumb, Short stature, Thoracolumbar scolio... ORPHA:480880
Osteogenesis Imperfecta, Type Iv
Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibi... OMIM:166220
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Abnormality of the lymphatic system, Hyperparakeratosis, Hydrocele testis, Multiple ... ORPHA:276280
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... ORPHA:95494
Vascular Ehlers-Danlos Syndrome
Alopecia, Inguinal hernia, Short stature, Redundant skin, Abnormality of hair texture, Abnormal e... ORPHA:286
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Neuroendocrine Tumor Of The Rectum
Weight loss, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Facial telangiectasia ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Facial telangiectasia ORPHA:100082
Skin Creases, Congenital Symmetric Circumferential, 2
Cryptorchidism, Synophrys, Low anterior hairline, Microcornea, Microphthalmia OMIM:616734
Mucopolysaccharidosis Type 1
Corneal opacity, Short stature ORPHA:579
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Aplasia of the eccrine sweat glands OMIM:300291
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Anemia, Weight loss ORPHA:67
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Larsen Syndrome
Intrauterine growth retardation, Corneal opacity, Short stature, Cryptorchidism OMIM:150250
Polymyositis
Hepatomegaly, Breast carcinoma, Weight loss, Arthritis, Chondrocalcinosis ORPHA:732
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyebrow, Thin fingernail, Porokeratosis, Abnormal dental enamel morphology, Tarsal synosto... ORPHA:85199
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Ambiguous genitalia, female, Abnormal ovarian physiology, Clitoral hypertroph... ORPHA:90794
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Lathosterolosis
Hypoplasia of penis, Cataract, Microcornea, Opacification of the corneal stroma, Intrauterine gro... ORPHA:46059
Ppoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Pituitary adenoma, I... ORPHA:97278
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity, Synophrys, Thin eyebrow, Small nail, Microphthalmia OMIM:608670
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... ORPHA:131
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Joubert Syndrome 2
Microphthalmia, Optic disc coloboma, Chorioretinal coloboma OMIM:608091
Cole-Carpenter Syndrome
Short stature, Abnormal dental enamel morphology, Recurrent fractures, Kyphosis, Abnormal form of... ORPHA:2050
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Weight loss, Abnormal pancreatic duct morphology, Pancreatic... ORPHA:103918
Okamoto Syndrome
Omphalocele, Redundant neck skin, Splenomegaly, Extension of hair growth on temples to lateral ey... ORPHA:2729
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Babinski sign, Abnormal p... OMIM:234200
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Generalized dystonia, Short stature, Scoliosis ORPHA:79107
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal mesentery morphology, Kyphosis, Abnorma... ORPHA:2075
Lymphoid Interstitial Pneumonia
Skin rash, Eczema, Weight loss, Keratoconjunctivitis sicca, Failure to thrive ORPHA:79128
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Weight loss OMIM:188580
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Severe short stature, Kyphoscoliosis, Severe generalized osteoporosis, Knee flex... OMIM:210730
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Obesity, Scoliosis, Finger j... OMIM:618493
Ohdo Syndrome, X-Linked
Sparse eyebrow, Microphthalmia, High anterior hairline, Cryptorchidism OMIM:300895
Momo Syndrome
Bilateral microphthalmos, Hyperconvex nail, Chorioretinal coloboma ORPHA:2563
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hyperpigmented streaks, Camptod... OMIM:601803
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Cataract, Depression, Weight loss, Diminished ability to concentrate, Dementia, Cognitive impairm... OMIM:607459
Fatal Familial Insomnia
Dementia, Weight loss OMIM:600072
Loeys-Dietz Syndrome 2
Joint laxity, Inguinal hernia, Craniosynostosis, Osteoporosis, Scoliosis, Camptodactyly, Spondylo... OMIM:610168
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, Increased susceptibility to... ORPHA:2769
Igg4-Related Aortitis
Low back pain, Hypereosinophilia, Weight loss ORPHA:449400
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Cryptorchidism OMIM:619148
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor OMIM:611804
Loeffler Endocarditis
Eosinophilia, Weight loss ORPHA:75566
Mucopolysaccharidosis Type 2
Short attention span, Corneal opacity, Short stature, Progressive neurologic deterioration, Growt... ORPHA:580
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hand tremor, Weight loss, Thyroid hyperplasia, Goiter ORPHA:424
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Joint laxity, Large for gestational age, Sparse eyebrow, Kyphosis, Hyperlordosis, Gait ataxia, Sc... OMIM:617011
Secondary Short Bowel Syndrome
Growth delay, Failure to thrive, Weight loss ORPHA:95427
Sotos Syndrome
Astrocytoma, Tremor, Flexion contracture, Neoplasm, Hypopigmentation of the skin, Abnormal verteb... ORPHA:821
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Joint laxity, Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Sparse eyebrow, Ky... ORPHA:457359
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Fryns Syndrome
Cryptorchidism, Small nail, Facial hirsutism, Opacification of the corneal stroma, Microphthalmia... OMIM:229850
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomyelitis, B-cell lymphoma, Osteomalacia, Follicular h... OMIM:619381
Pyomyositis
Recurrent cutaneous abscess formation, Weight loss, Testicular teratoma ORPHA:764
Neurocardiofaciodigital Syndrome
Cataract, Short stature, Small for gestational age, Sclerocornea, Patent ductus arteriosus, Failu... OMIM:619869
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Torticollis, Scoliosis, Hyperlordosis OMIM:181405
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Short stature, Hyperopic astigmatism OMIM:252600
Moebius Syndrome
Breast aplasia, Corneal opacity, Hypogonadotropic hypogonadism ORPHA:570
Alström Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Hypoplasia of the Leyd... ORPHA:64
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Paraganglioma, Weight loss ORPHA:97286
Tropical Endomyocardial Fibrosis
Hepatomegaly, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Ascites ORPHA:75565
Yunis-Varon Syndrome
Sparse scalp hair, Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Cryptorchidism, Bila... ORPHA:3472
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Midface capillary hemangioma, Ankle flexion contracture, Short neck, Postnatal ... OMIM:268300
Tetrasomy 9P
Abnormal dental enamel morphology, Pilomatrixoma, Umbilical hernia, Intrauterine growth retardati... ORPHA:3310
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Inguinal hernia, Sacral dimple, Small for gestational age, Decreased response to growth hormone s... ORPHA:268261
15Q14 Microdeletion Syndrome
Kyphosis, Inguinal hernia, Short stature, Scoliosis ORPHA:261190
Mowat-Wilson Syndrome
Cataract, Supernumerary nipple, Cryptorchidism, Microcornea, Ectopia pupillae, Chorioretinal colo... OMIM:235730
Mend Syndrome
Sacral dimple, Redundant neck skin, Short stature, Cryptorchidism, Kyphosis, Spotty hypopigmentat... OMIM:300960
Spondyloperipheral Dysplasia
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular... OMIM:271700
Cap Polyposis
Weight loss ORPHA:160148
Holoprosencephaly 7
Microphthalmia, Synophrys, Bilateral microphthalmos, Iris coloboma OMIM:610828
Mucopolysaccharidosis Type 2, Attenuated Form
Short attention span, Corneal opacity, Short stature, Growth delay, Cognitive impairment, Mental ... ORPHA:217093
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Inguinal hernia, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow OMIM:609944
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Joint laxity, Ataxia, Kyphoscoliosis, Cardiomegaly, Tremor, Cryptorchidism, Kypho... OMIM:300967
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Curly hair, Lumbar hyperlordosis, Failure to thrive in infancy, Kyphoscoliosi... ORPHA:500150
Menke-Hennekam Syndrome 1
Inguinal hernia, Joint hypermobility, Cryptorchidism, Flexion contracture, Long eyelashes, Scolio... OMIM:618332
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Joint laxity, Inguinal hernia, Unilateral cryptorchidism, Decrease... OMIM:613406
Oculoectodermal Syndrome
Supernumerary nipple, Patent ductus arteriosus, Pineal cyst, Microcornea, Growth delay, Astigmati... OMIM:600268
Cystic Fibrosis
Osteopenia, Osteoporosis, Abnormality of the liver, Cirrhosis, Failure to thrive, Decreased body ... ORPHA:586
Chand Syndrome
Curly hair, Dry skin, Ataxia, Nail dysplasia ORPHA:1401
Malignant Atrophic Papulosis
Cataract, Telangiectasia of the skin, Weight loss ORPHA:679
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Acanthosis nigric... OMIM:300942
Pmm2-Cdg
Osteopenia, Joint laxity, Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypogonadi... ORPHA:79318
Digeorge Syndrome
Short stature, Acne, Sclerocornea, Seborrheic dermatitis, Parathyroid agenesis, Patent ductus art... OMIM:188400
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Intrauterine gro... ORPHA:958
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Knee flexion contracture OMIM:603387
Gallbladder Neuroendocrine Tumor
Neoplasm of the nervous system, Weight loss, Neuroendocrine neoplasm, Intermittent jaundice ORPHA:100086
Brachyolmia Type 3
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis OMIM:113500
Myasthenic Syndrome, Congenital, 20, Presynaptic
Arthrogryposis multiplex congenita, Kyphosis, Scoliosis OMIM:617143
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity, Short stature, Growth delay, Cognitive impairment, Mental deterioration ORPHA:217085
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short stature, Recurrent fractures, Short neck, Kyphosis, Sco... ORPHA:140
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Mosaic Trisomy 20
Vertebral fusion, Cryptorchidism, Kyphosis, Spinal canal stenosis, Depigmentation/hyperpigmentati... ORPHA:1724
Monosomy 9P
Thin nail, Highly arched eyebrow, Cryptorchidism, Synophrys, Low posterior hairline, Microphthalm... ORPHA:261112
Fanconi Anemia, Complementation Group F
Microphthalmia, Cryptorchidism OMIM:603467
Marfanoid Habitus With Situs Inversus
Kyphosis, Hyperextensibility of the finger joints, Scoliosis OMIM:609008
Holt-Oram Syndrome
Kyphosis, Radioulnar synostosis, Scoliosis, Joint stiffness ORPHA:392
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Foxg1 Syndrome Due To 14Q12 Microdeletion
Growth delay, Kyphosis, Scoliosis ORPHA:261144
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Palpable purpura, Cutis marmorata, Orchitis, Weight loss, V... ORPHA:48435
Yunis-Varon Syndrome
Redundant neck skin, Anterior concavity of thoracic vertebrae, Palmoplantar hyperkeratosis, Absen... OMIM:216340
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Sparse eyebrow, Microphthalmia, Cryptorchidism OMIM:616300
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell c... OMIM:301074
Familial Gestational Hyperthyroidism
Goiter, Thyroid hyperplasia, Hand tremor, Weight loss ORPHA:99819
Behçet Disease
Cataract, Acne, Confusion, Orchitis, Weight loss, Irritability, Keratoconjunctivitis sicca, Memor... ORPHA:117
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Aicardi Syndrome
Microphthalmia, Optic disc coloboma, Chorioretinal coloboma, Sparse lateral eyebrow ORPHA:50
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Atrophic scars, Scoliosis, Join... OMIM:617821
Adams-Oliver Syndrome 1
Alopecia, Small nail, Supernumerary nipple OMIM:100300
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Cyclopia, Cryptorchidism ORPHA:2166
Orofaciodigital Syndrome Iii
Kyphosis, Hyperconvex nail, Myoclonus OMIM:258850
Rett Syndrome, Congenital Variant
Dystonia, Kyphosis, Chorea, Athetosis, Scoliosis, Apraxia, Spasticity OMIM:613454
Scalp-Ear-Nipple Syndrome
Sparse hair, Abnormal fingernail morphology, Breast aplasia ORPHA:2036
Neu-Laxova Syndrome 1
Cataract, Absent eyelashes, Cryptorchidism, Microphthalmia, Pterygium OMIM:256520
Pallister-Hall Syndrome
Microphthalmia, Decreased testicular size, Nail dysplasia, Cryptorchidism OMIM:146510
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Small intestine carcinoid, Weight loss ORPHA:100078
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal... OMIM:181000
Microphthalmia, Syndromic 6
Anophthalmia, Female hypogonadism, Sclerocornea, Cryptorchidism, Microcornea, Coloboma, Microphth... OMIM:607932
Charge Syndrome
Anophthalmia, Hypogonadotropic hypogonadism, Highly arched eyebrow, Cryptorchidism, Chorioretinal... ORPHA:138
Tangier Disease
Dry skin, Corneal opacity ORPHA:31150
Granulomatosis With Polyangiitis
Keratitis, Conjunctivitis, Skin ulcer, Weight loss OMIM:608710
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c... OMIM:157170
Autosomal Recessive Spastic Paraplegia Type 35
Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Kyphosis, Babinski sign, Spast... ORPHA:171629
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cryptorchidism, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Aplasia/Hypoplasia of... OMIM:609945
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Fraser Syndrome 1
Corneal opacity, Hypospadias, Cryptorchidism, Bicornuate uterus, Micropenis, Vaginal atresia, Cli... OMIM:219000
22Q11.2 Deletion Syndrome
Cataract, Cryptorchidism, Microphthalmia, Posterior embryotoxon, Corneal neovascularization ORPHA:567
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ataxia, Weight loss, Lower-limb joint contracture, Apraxia, Arthrogryposis mul... ORPHA:99885
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Erythema, Fine hair, Onycholysis, Nail dystr... OMIM:614748
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Ankle flexion contracture, Hyperlordosis, Kyphoscoliosis, Fle... ORPHA:2020
Kanzaki Disease
Hyperkeratosis, Aminoaciduria, Dry skin, Petechiae OMIM:609242
Meckel Syndrome 14
Microphthalmia OMIM:619879
Rheumatoid Arthritis
Joint stiffness, Rheumatoid arthritis, Weight loss OMIM:180300
Marden-Walker Syndrome
Severe short stature, Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormal form of the ve... ORPHA:2461
Johanson-Blizzard Syndrome
Joint laxity, Sparse scalp hair, Hepatomegaly, Failure to thrive, Small for gestational age, Shor... OMIM:243800
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Biliary tract abnormality, Weight loss, Neoplasm of the liver, Cirrhosis ORPHA:90003
Fraser Syndrome 2
Microphthalmia, Low anterior hairline OMIM:617666
Klatskin Tumor
Jaundice, Weight loss ORPHA:99978
Spondyloarthropathy, Susceptibility To, 1
Back pain, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, H... OMIM:106300
Cleidocranial Dysplasia 1
Increased bone mineral density, Short stature, Kyphosis, Moderately short stature, Delayed pubic ... OMIM:119600
Igg4-Related Kidney Disease
Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morphology, Abnormality... ORPHA:449395
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... ORPHA:79102
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Charge Syndrome
Anophthalmia, Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Unilateral microphthalmos,... OMIM:214800
Meckel Syndrome, Type 1
Microphthalmia, Iris coloboma, Cryptorchidism OMIM:249000
Microphthalmia With Limb Anomalies
Microphthalmia, Abnormal eyebrow morphology, True anophthalmia, Cryptorchidism ORPHA:1106
Granulomatosis With Polyangiitis
Skin ulcer, Weight loss, Granulomatosis, Hemiplegia, Prostatitis, Pancreatitis, Purpura ORPHA:900
Pseudoxanthoma Elasticum
Civatte bodies, Cutis laxa OMIM:264800
Microphthalmia, Syndromic 9
Cryptorchidism, Anophthalmia, Bilateral microphthalmos OMIM:601186
Townes-Brocks Syndrome
Cataract, Cryptorchidism, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Iris coloboma ORPHA:857
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Weight loss ORPHA:747
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia, Low posterior hairline OMIM:617925
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism OMIM:610829
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Limited hip move... OMIM:203500
Isolated Arrhinia
Microphthalmia ORPHA:1134
Shprintzen Omphalocele Syndrome
Omphalocele, Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis, Webbed neck, Decreased bod... OMIM:182210
Pancreatoblastoma
Jaundice, Pancreatic calcification, Weight loss ORPHA:677
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland... ORPHA:79078
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Abnormality of retinal pigmentation, Elevated circulating creatinine concentra... ORPHA:91500
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Pulmonary Alveolar Microlithiasis
Cyanosis, Decreased fertility, Weight loss, Gonadal calcification, Testicular microlithiasis ORPHA:60025
Treacher Collins Syndrome 1
Preauricular hair displacement, Cryptorchidism, Bilateral microphthalmos, Sparse lower eyelashes OMIM:154500
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Cataract, Highly arched eyebrow, Cryptorchidism, Abnormal pupil morphology, Microco... ORPHA:261552
Microphthalmia, Syndromic 1
Anophthalmia, Cryptorchidism, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioreti... OMIM:309800
Primary Fanconi Renotubular Syndrome
Osteomalacia, Generalized aminoaciduria, Weight loss, Growth delay, Increased susceptibility to f... ORPHA:3337
Cerebrocostomandibular Syndrome
Short stature, Kyphosis, Webbed neck, Tracheomalacia, Intrauterine growth retardation ORPHA:1393
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cryptorchidism, Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:468631
Oculopharyngodistal Myopathy 1
Tremor, Ataxia, Weight loss OMIM:164310
Mowat-Wilson Syndrome
Cataract, Cryptorchidism, Hydrocele testis, Astigmatism, Chordee, Axenfeld anomaly, Oligomenorrhe... ORPHA:2152
Fraser Syndrome
Microphthalmia, Anophthalmia, Abnormal hair pattern, Cryptorchidism ORPHA:2052
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cataract, Cryptorchidism, Hydrocele testis, Astigmatism, Chordee, Axenfeld anomaly, Retinal colob... ORPHA:261537
Holoprosencephaly 1
Microphthalmia, Cyclopia OMIM:236100
Nocardiosis
Keratitis, Weight loss, Conjunctivitis, Cutaneous abscess ORPHA:31204
Goodpasture Syndrome
Pallor, Anemia, Weight loss OMIM:233450
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Highly arched eyebrow, Bilateral microphthalmos, Long eyelashes, Retinal ... ORPHA:508488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Decreased testicular size, Opacification of the corneal stroma OMIM:615287
Pallister-Hall Syndrome
Microphthalmia, Decreased testicular size, Nail dysplasia, Cryptorchidism ORPHA:672
Spondyloepimetaphyseal Dysplasia, X-Linked
Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportionat... OMIM:300106
Hydrolethalus Syndrome 1
Microphthalmia OMIM:236680
Craniofacial Microsomia 1
Limbal dermoid, Microphthalmia, Anophthalmia OMIM:164210
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ercc2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ercc2.

No publications found that use IMPC mice or data for Ercc2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ercc2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ercc2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ercc2tm47198(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ercc2tm47198(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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