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Gene: Awat2 MGI:3045345

Gene Summary

Name:

acyl-CoA wax alcohol acyltransferase 2

Synonyms:

9430062J17Rik, Dgat2l4

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating alanine transaminase level	Awat2^em1(IMPC)Mbp	HOM	Early adult	2.99×10^-11
abnormal lymph node morphology	Awat2^em1(IMPC)Mbp	HEM	Early adult	0.00
eye hemorrhage	Awat2^em1(IMPC)Mbp	HEM	Early adult	9.71×10^-12
increased circulating aspartate transaminase level	Awat2^em1(IMPC)Mbp	HOM	Early adult	9.61×10^-08
eye hemorrhage	Awat2^em1(IMPC)Mbp	HOM	Early adult	4.09×10^-13
abnormal urinary bladder morphology	Awat2^em1(IMPC)Mbp	HEM	Early adult	0.00
abnormal eyelid morphology	Awat2^em1(IMPC)Mbp	HEM	Early adult	5.72×10^-21
abnormal pancreas morphology	Awat2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Awat2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eyelid morphology	Awat2^em1(IMPC)Mbp	HOM	Early adult	6.53×10^-21
abnormal eye morphology	Awat2^em1(IMPC)Mbp	HEM	Early adult	0.00

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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.

Histopathology

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

49 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Awat2 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.

Human diseases associated with Awat2 (0 diseases)
Human diseases predicted to be associated with Awat2 (1368 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Awat2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Corneal dystrophy, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Facia...	OMIM:308800
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Faci...	OMIM:612843
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Cataract, Sparse e...	OMIM:129500
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Hyp...	OMIM:602400
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Erythrokeratodermia Variabilis	Alopecia, Cataract, Skin rash, Corneal opacity, Abnormal testis morphology, Abnormal hair morphol...	ORPHA:317
Dermatitis, Atopic	Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, F...	OMIM:603165
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Developmental cataract, Hyperkera...	OMIM:212360
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Abnormal eyelid morphology, Pustule, Paronych...	ORPHA:37
Autoinflammation With Arthritis And Dyskeratosis	Epidermal acanthosis, Splenomegaly, Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Keratoconj...	OMIM:617388
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Alopecia, Multinodular goiter, Dry skin, Palmoplantar keratoderma, S...	OMIM:618373
Ifap Syndrome 2	Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Atrich...	OMIM:619016
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Hypohidrosis, Palmoplantar kerato...	OMIM:618535
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Kid Syndrome	Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Recurrent cutaneous fungal ...	ORPHA:477
Vernal Keratoconjunctivitis	Abnormal cornea morphology, Corneal neovascularization, Punctate keratitis, Abnormal conjunctiva ...	ORPHA:70476
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Cataract, Entropion, Telangiectasia of the skin, Keratitis...	ORPHA:910
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Epidermal acanthosis, Absent facia...	ORPHA:90368
Lichen Planus Pemphigoides	Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality of the nail	ORPHA:254478
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Ect...	ORPHA:2890
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Posterior blepha...	OMIM:300918
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Ectodermal dysplasia, Limbal stem cell deficiency, Palmoplan...	OMIM:615225
Keratoendotheliitis Fugax Hereditaria	Keratitis, Epiphora, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Galactosialidosis	Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma, ...	OMIM:256540
Ulerythema Ophryogenesis	Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, 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
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Abnormal eyelid morphology, Splenomegaly, Erythema, Skin ulcer, Lymp...	ORPHA:2584
Epilepsy-Telangiectasia	Conjunctival telangiectasia, Synophrys	OMIM:226850
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Upslanted palpebral fissure, Epicanthus, Iris cyst, Ptosis	OMIM:620086
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconj...	OMIM:158310
Tooth Agenesis, Selective, 8	Sparse eyebrow, Dry skin, Sparse hair	OMIM:617073
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Absent pubic hair, Cutis laxa,...	ORPHA:2269
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Nasolacrima...	OMIM:604173
Rhizomelic Chondrodysplasia Punctata	Epicanthus, Alopecia, Cataract, Dry skin, Sparse body hair	ORPHA:177
Gómez-López-Hernández Syndrome	Telecanthus, Alopecia of scalp, Toenail dysplasia, Corneal opacity	ORPHA:1532
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia...	OMIM:106260
Recessive X-Linked Ichthyosis	Cryptorchidism, Hypohidrosis, Hyperkeratosis, Opacification of the corneal stroma, Dry skin	ORPHA:461
Phenylketonuria	Cataract, Eczema, Blue irides, Dry skin, Fair hair	OMIM:261600
Brittle Cornea Syndrome 1	Keratoconus, Epicanthus, Red hair, Keratoglobus, Abnormal cornea morphology, Decreased corneal th...	OMIM:229200
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Anhidrosis, Absent eyelashes, Palmoplantar hyperkeratosis, Ectodermal dysplasia, ...	OMIM:604536
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Multiple eyelid margin cysts, Ectodermal dysplasia, ...	OMIM:224750
Winchester Syndrome	Corneal opacity, Hirsutism	OMIM:277950
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hypohidrosis, Palmopl...	ORPHA:100976
Dermoodontodysplasia	Sparse scalp hair, Abnormal eyelid morphology, Hypohidrosis, Ectodermal dysplasia, Fingernail dys...	ORPHA:1660
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Psoriasiform dermatitis, Blepharitis, Developmental cataract	OMIM:616834
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy, Epiphora	OMIM:122100
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Ectode...	OMIM:129490
Lipoma Of The Conjunctiva	Conjunctival lipoma	OMIM:151700
Dermatopathia Pigmentosa Reticularis	Palmoplantar hyperkeratosis, Hypohidrosis, Abnormal conjunctiva morphology, Nail dystrophy, Alope...	OMIM:125595
Sjögren-Larsson Syndrome	Corneal erosion, Erythema, Urticaria, Hyperkeratosis, Dry skin, Inflammatory abnormality of the eye	ORPHA:816
Tangier Disease	Myocardial infarction, Cicatricial ectropion, Splenomegaly, Nail dystrophy, Opacification of the ...	OMIM:205400
Trichothiodystrophy 6, Nonphotosensitive	Brittle hair, Slow-growing hair, Microcornea, Tiger tail banding, Dry skin	OMIM:616943
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Mi...	ORPHA:35173
Distal Duplication 6P	Abnormal hair quantity, Cataract, Abnormal eyelash morphology, Fine hair, Blepharophimosis, Dry s...	ORPHA:1745
Eec Syndrome	Entropion, Slow-growing hair, Decreased response to growth hormone stimulation test, Sparse eyebr...	ORPHA:1896
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Cutan...	OMIM:278730
Agel Amyloidosis	Cataract, Bilateral ptosis, Xerostomia, Bruising susceptibility, Cutis laxa, Cardiomyopathy, Kera...	ORPHA:85448
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Skin ulcer, Fine hair,...	ORPHA:1806
Epithelial Recurrent Erosion Dystrophy	Corneal erosion, Epiphora	OMIM:122400
Sturge-Weber Syndrome	Conjunctival telangiectasia, Corneal dystrophy, Pulmonary embolism, Abnormal retinal vascular mor...	ORPHA:3205
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Poor wound healing, Sparse eyeb...	ORPHA:1010
3Mc Syndrome 1	Conjunctival telangiectasia, Telecanthus, Supernumerary nipple, Highly arched eyebrow, Synophrys,...	OMIM:257920
Galactosialidosis	Cherry red spot of the macula, Corneal opacity	ORPHA:351
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperk...	ORPHA:530838
Flotch Syndrome	Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Inflammatory abnormali...	ORPHA:2045
Corneal Dystrophy, Meesmann, 2	Epiphora, Recurrent corneal erosions	OMIM:618767
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Atelis Syndrome 1	Cataract, Eczema, Hypothyroidism, Bronchiectasis, Dry skin, Downslanted palpebral fissures	OMIM:620184
Dyskeratosis Congenita	Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Cataract, Abnormal fingernail mo...	ORPHA:1775
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop...	OMIM:106210
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Xerostomia, Hypohidrosis, Aplasia/H...	ORPHA:238468
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Intraventricular hemorrhage,...	ORPHA:420741
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Lacrimation abnormality, Sparse eyebrow, Hypohidrosis, Fine hair, Dy...	ORPHA:1882
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A...	ORPHA:324
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Sparse eyebrow, Onychogryposis of toenails, Hypohidrosis, Ectodermal dysplasia, Long palpebral fi...	OMIM:600906
Keratosis Pilaris Atrophicans	Absent eyelashes, Epiphora, Sparse eyebrow	OMIM:604093
Ichthyosis With Confetti	Hypertrichosis, Palmoplantar hyperkeratosis, Hypoplastic nipples, Scaling skin, Erythroderma, Ect...	OMIM:609165
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Cataract, Fine hair, Microcornea, Telangiectasia, Fragile nails, Ker...	OMIM:601675
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Mannosidosis, Beta A, Lysosomal	Angiokeratoma, Tortuosity of conjunctival vessels	OMIM:248510
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Tryptophanuria With Dwarfism	Conjunctival telangiectasia, Cutaneous photosensitivity	OMIM:276100
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Prematurely aged appearance, Cryptorchidism, Dry skin, Low posterior hair...	ORPHA:2617
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Ptosis	ORPHA:1473
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Eczema, Cutis laxa, Hyperkeratosis, Dry skin, Hypertrichosis	OMIM:612379
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Paronychia, Perioral erythema, Erythroderma, Blepharitis, Onychogryposis	OMIM:614328
Proteus Syndrome	Epidermal acanthosis, Splenomegaly, Hyperkeratosis, Limbal dermoid, Lymphangioma, Downslanted pal...	OMIM:176920
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm...	ORPHA:2273
Recon Progeroid Syndrome	Progeroid facial appearance, Hyperconvex thumb nails, Livedo reticularis, Absent lower eyelashes,...	OMIM:620370
19Q13.11 Microdeletion Syndrome	Cataract, Supernumerary nipple, Cryptorchidism, Fine hair, Microcornea, Sparse or absent eyelashe...	ORPHA:217346
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Recurrent otitis m...	OMIM:602562
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Cataract, Abnormality of hair texture,...	ORPHA:170
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Epidermal acanthosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Scal...	OMIM:612281
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Entropion, Trichiasis, Hypohidrosis, Ectodermal dysplasia, Nuclear cataract, Narr...	OMIM:601701
Limb-Mammary Syndrome	Absent lacrimal punctum, Alopecia, Absent nipple, Psoriasiform dermatitis, Chronic irritative con...	ORPHA:69085
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ectodermal dysplasia, Atrichia, Scaling skin, Periungual erythema, Dystrophic fingernails, Absent...	OMIM:308205
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Peeling Skin Syndrome 3	Abnormal hair morphology, Erythema, White scaling skin	OMIM:616265
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Viral hepatitis, Ectropion, Poor wound healing, Corneal scar...	ORPHA:101330
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis, Bitot spots of the conjunctiva	OMIM:277350
Sea-Blue Histiocytosis	Splenomegaly, Mediastinal lymphadenopathy, Blepharitis, Petechiae	ORPHA:158029
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hepatitis, Skin ulcer, Hyperkeratosis, Onycholysis, Pte...	ORPHA:525
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Corneal opacity, Hyperparakeratosis, Periorificial hyper...	OMIM:614594
Epilepsy-Telangiectasia Syndrome	Conjunctival telangiectasia	ORPHA:1951
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Neurotrophic Keratopathy	Lacrimation abnormality, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal ...	ORPHA:137596
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Xeroderma Pigmentosum Variant	Keratitis, Cutaneous photosensitivity, Dry skin, Telangiectasia	ORPHA:90342
Bilateral Striopallidodentate Calcinosis	Corneal opacity, Subcutaneous hemorrhage	ORPHA:1980
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Hurler-Scheie Syndrome	Corneal opacity, Abnormality of the tonsils, Splenomegaly, Cardiomyopathy, Rhinitis, Generalized ...	ORPHA:93476
Noonan Syndrome 13	Ptosis, Epicanthus, Highly arched eyebrow, Almond-shaped palpebral fissure, Cryptorchidism, Blue ...	OMIM:619087
Wiskott-Aldrich Syndrome	Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, Hypoplas...	ORPHA:906
Immunodeficiency 96	Recurrent otitis media, Conjunctival telangiectasia, Eczema	OMIM:619774
Moebius Syndrome	Epicanthus, Corneal opacity, Breast aplasia, Blepharitis, Ptosis	ORPHA:570
Warburg-Cinotti Syndrome	Epicanthus, Symblepharon, Poor wound healing, Erythema, Narrow palpebral fissure, Limbal stem cel...	OMIM:618175
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Angular cheilitis, Acantholysis, Punctate palmoplantar hyperkeratosis, Chei...	OMIM:616295
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Cataract, Skin ulcer, Telangiectasia, Hyperkeratosis, Inter...	ORPHA:454831
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Cryptorc...	OMIM:613026
Lamellar Ichthyosis	Chronic otitis media, Lack of skin elasticity, Hyperkeratosis, Erythroderma, Sparse hair, Dry ski...	ORPHA:313
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno...	ORPHA:248
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nasolacrimal duct obst...	OMIM:103285
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Cataract, Low anterior hairline, Horizontal eyebrow, High anterior hairline, Dry skin, Thick eyebrow	OMIM:618797
Dacryocystitis-Osteopoikilosis Syndrome	Dacryocystitis, Lacrimation abnormality	ORPHA:1562
Sézary Syndrome	Alopecia, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, Nail dystrophy, Erythroderma, ...	ORPHA:3162
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Dry skin, Subcapsular cataract, Polycystic ovaries	OMIM:268020
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Congestive heart failure, ...	OMIM:605676
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Progeroid facial appearance, Cutaneous photosensitivity, Cutaneous t...	OMIM:615919
Cutaneous Mastocytoma	Maculopapular exanthema, Telangiectasia of the skin, Angioedema, Erythema, Darier's sign, Flushin...	ORPHA:79455
Dermoodontodysplasia	Ectodermal dysplasia, Dry skin, Nail dysplasia, Trichodysplasia	OMIM:125640
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Acantholysis, Pustule, Cheilitis, Lymphadenopathy, ...	ORPHA:293173
Blepharonasofacial Malformation Syndrome	Epicanthus, Telecanthus, Lacrimation abnormality, Abnormal eyelash morphology, Cryptorchidism, To...	ORPHA:1252
Congenital Heart Defects And Ectodermal Dysplasia	Medial flaring of the eyebrow, Sparse scalp hair, High anterior hairline, Dry skin, Fragile nails	OMIM:617364
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Abnormal size of the palpebral fissures, Microcornea, Anterior synechia...	ORPHA:3214
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Hyperhidrosis, Dystrophic fingernails, Thin n...	OMIM:257980
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Cryptorchidism, Polycystic ovaries, Dry skin, Decreased testicular size	ORPHA:3085
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Fragile skin, Scaling skin, Palmoplantar keratoderma	OMIM:146590
Short Syndrome	Alopecia, Posterior embryotoxon, Corneal opacity, Telecanthus, Abnormal pupil morphology, Hypopla...	ORPHA:3163
Hepatoerythropoietic Porphyria	Recurrent bacterial skin infections, Scarring alopecia of scalp, Splenomegaly, Loss of eyelashes,...	ORPHA:95159
Leopard Syndrome 3	Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Palpebral thickenin...	OMIM:613707
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Cutaneous photosensitivity, C...	ORPHA:312
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor...	ORPHA:294023
Leopard Syndrome 2	Curly hair, Epicanthus, Hypertrophic cardiomyopathy, Dry skin, Downslanted palpebral fissures	OMIM:611554
Phacoanaphylactic Uveitis	Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo...	ORPHA:209959
Focal Facial Dermal Dysplasia Type Iii	Epicanthus, Sparse lower eyelashes, Lacrimation abnormality, Abnormal hair pattern, Highly arched...	ORPHA:1807
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Ectod...	OMIM:604292
Oculomaxillofacial Dysostosis	Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Upslanted palpebral fis...	ORPHA:1794
Refsum Disease	Cataract, Heart block, Splenomegaly, Cardiomyopathy, Nail dysplasia, Dry skin, Ptosis	ORPHA:773
Bartsocas-Papas Syndrome	Corneal opacity, Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Sparse or absent eyelas...	ORPHA:1234
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Congenital abnormal hair pattern, Pneumonia, Corneal opacity, Cryptorchidism,...	ORPHA:1867
Ataxia-Telangiectasia	Conjunctival telangiectasia, Sinusitis, Abnormal hair morphology, Bronchiectasis, Hypoplasia of t...	OMIM:208900
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Scaling skin...	OMIM:607602
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Epicanthus, Cataract, Abnormal nasolacrimal system morphology, Chorioretinal dyspla...	ORPHA:2526
2Q24 Microdeletion Syndrome	Cataract, Downslanted palpebral fissures, Abnormality iris morphology	ORPHA:1617
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Upper eye...	OMIM:167730
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Alopecia, Lack of faci...	ORPHA:90156
Corneal Dystrophy, Reis-Bucklers Type	Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea...	OMIM:608470
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,...	OMIM:614941
Noonan Syndrome 5	Curly hair, Epicanthus, Sparse eyebrow, Cryptorchidism, Fine hair, Small nail, Pulmonic stenosis,...	OMIM:611553
Juvenile Xanthogranuloma	Hyphema, Uveitis, Asymmetry of iris pigmentation, Iritis, Blepharitis	ORPHA:158000
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Peroxisome Biogenesis Disorder 14B	Hydrocele testis, Dry skin, Developmental cataract	OMIM:614920
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Psoriasiform lesion, Pneumonia, Erythema nodosum...	OMIM:614700
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium	OMIM:619339
Ichthyosis Vulgaris	Eczematoid dermatitis, Absent keratohyalin granules, Dry skin	OMIM:146700
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Epidermal acanthosis, Sparse eyelashes, Thick hair, Portal hypertension,...	OMIM:607626
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Ectod...	OMIM:129900
Lacrimoauriculodentodigital Syndrome	Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Hypoplasia of the l...	ORPHA:2363
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Almond-shaped palpebral fissure, Abnormal hair whorl, Synophrys, Low posterior hairline, Upslante...	OMIM:300860
Morquio Syndrome C	Corneal opacity	OMIM:252300
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Lacrimation abnormality, Uveal ectropion, Abnormal ...	ORPHA:98973
Frontofacionasal Dysplasia	Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Li...	ORPHA:1791
Lacrimal Duct Defect	Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele, Epiphora	OMIM:149700
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia	ORPHA:95433
Scalp-Ear-Nipple Syndrome	Anisocoria, Supraventricular tachycardia, Sparse hair, Iris coloboma, Pyelonephritis, Patchy alop...	OMIM:181270
Rotor Syndrome	Conjunctival icterus, Jaundice, Intermittent jaundice	ORPHA:3111
Peeling Skin Syndrome 1	Brittle hair, Onycholysis, Nail dystrophy, Scaling skin, Erythroderma, Palmoplantar hyperhidrosis	OMIM:270300
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Acquired Ichthyosis	Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dry skin	ORPHA:454
Spinocerebellar Ataxia, Autosomal Recessive 10	Tortuosity of conjunctival vessels	OMIM:613728
Rapp-Hodgkin Syndrome	Ptosis, Absent lacrimal punctum, Decreased number of sweat glands, Sparse eyelashes, Slow-growing...	OMIM:129400
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Abnormal fingernail morphology, Maculopap...	ORPHA:79147
Ichthyosis, Congenital, Autosomal Recessive 14	Hyperkeratosis, Orthokeratotic hyperkeratosis, Erythema, Scaling skin	OMIM:617571
Tangier Disease	Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Hepatosplenome...	ORPHA:31150
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, Myopic ast...	OMIM:152950
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Abnormality...	ORPHA:47
Alacrima, Congenital, Autosomal Dominant	Punctate corneal epithelial erosions, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Alacri...	OMIM:103420
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy	ORPHA:158025
17Q23.1Q23.2 Microdeletion Syndrome	Epicanthus, Highly arched eyebrow, Long eyelashes, Chronic otitis media, Pulmonary arterial hyper...	ORPHA:261279
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Scaling skin on fingertip, Epidermal acanthosis, Parakeratosis, Palmoplantar hyperkerat...	ORPHA:79395
Mucolipidosis Type Iii	Acne, Corneal opacity	ORPHA:577
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Epicanthus, Sinusitis, Recurrent pneumonia, Bronchiectasis, Upslante...	OMIM:251260
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Elbow hypertrichosis, Epicanthus, Eczema, Long eyelashes, Dry skin, Downslanted palpebral fissures	OMIM:620191
Costello Syndrome	Deep-set nails, Keratoconus, Epicanthus, Abnormal fingernail morphology, Redundant skin, Concave ...	ORPHA:3071
Retinal Capillary Malformation	Vitreous hemorrhage, Retinal capillary hemangioma, Hyphema	ORPHA:71213
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas...	OMIM:600376
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Red eye, Posterior synechiae of the anterior chamber, Con...	ORPHA:280921
Usmani-Riazuddin Syndrome, Autosomal Recessive	Epicanthus, Conjunctival hyperemia	OMIM:619548
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Lacrimation abnormality, Hypohidrosis	ORPHA:1484
Jung Syndrome	Telecanthus, Dry skin, Hypothyroidism, Low posterior hairline	ORPHA:2321
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Skin ulcer, Fine hair, ...	ORPHA:978
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Abnormal hair morphology,...	ORPHA:634
Omenn Syndrome	Alopecia, Pneumonia, Splenomegaly, Thyroiditis, Lymphadenopathy, Erythroderma, Dry skin, Hypothyr...	ORPHA:39041
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Abnormal conjunctiva morphology	OMIM:602248
Koolen-De Vries Syndrome	Hypopigmentation of hair, Cataract, Epicanthus, Abnormality of hair texture, Cryptorchidism, Upsl...	ORPHA:96169
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pneumonia, Bronchiectasis, ...	OMIM:618282
Waardenburg Syndrome Type 1	Hypopigmentation of hair, Telecanthus, White eyelashes, White eyebrow, Lacrimation abnormality, A...	ORPHA:894
Ablepharon Macrostomia Syndrome	Absent eyebrow, Ablepharon, Corneal opacity, Redundant skin, Abnormal hair pattern, Absent eyelas...	ORPHA:920
Acral Peeling Skin Syndrome	Erythema, Eczema, Scaling skin, Excessive wrinkling of palmar skin	ORPHA:263534
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Cryptorchidism, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hyp...	OMIM:618815
Retinopathy Of Prematurity	Vitreous hemorrhage	ORPHA:90050
Microtriplication 11Q24.1	Keratoconus, Synophrys, Upslanted palpebral fissure, Long eyelashes, Thick eyebrow	ORPHA:289522
Incontinentia Pigmenti	Uveitis, Hyperhidrosis, Abnormal toenail morphology, Infectious encephalitis, Abnormality of the ...	ORPHA:464
Noonan Syndrome 14	Aortic regurgitation, Curly hair, Epicanthus, Lacrimal duct stenosis, Sparse eyebrow, Cryptorchid...	OMIM:619745
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Alopecia, Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Sparse hair, Fragi...	OMIM:242150
Peeling Skin Syndrome 4	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Ort...	OMIM:607936
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis, Scaling skin	OMIM:617115
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Cataract, Sparse eyelashes, Cryptorchidism, Pterygium of nails...	OMIM:305000
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Radio-Tartaglia Syndrome	Thick eyebrow, Epicanthus, Highly arched eyebrow, Long eyebrows, Synophrys, Low anterior hairline...	OMIM:619312
Sunct Syndrome	Palpebral edema, Episodic hyperhidrosis, Hyperhidrosis, Increased tear production, Conjunctival h...	ORPHA:57145
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cataract, Tortuosity of conjunctival vessels, Ptosis	ORPHA:284289
Harel-Yoon Syndrome	Upslanted palpebral fissure, Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract	OMIM:617183
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Postural hypotension with compensatory tachycardia, Osteomyelitis, Anhidrosis,...	OMIM:256800
Bachmann-Bupp Syndrome	Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Cryptorchidism, Small nail, Blepharophimosis...	OMIM:619075
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Sympathetic Ophthalmia	Alopecia, Cataract, Poliosis, Erythema, Retinal hemorrhage, Anterior chamber cells, Posterior syn...	ORPHA:79098
Aicardi-Goutieres Syndrome 5	Chilblains, Dry skin, Scaling skin	OMIM:612952
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Bazex Syndrome	Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin	ORPHA:166113
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Scaling skin	ORPHA:90158
Oculoauricular Syndrome	Cataract, Sclerocornea, Chorioretinal atrophy, Nasolacrimal duct obstruction, Developmental catar...	OMIM:612109
22Q11.2 Deletion Syndrome	Abnormal eyelid morphology, Hypoplasia of the thymus, Chronic otitis media, Hypothyroidism, Hypop...	ORPHA:567
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Flynn-Aird Syndrome	Alopecia, Cataract, Primary adrenal insufficiency, Skin ulcer	ORPHA:2047
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:613826
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Trichothiodystrophy	Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Microcornea, Conjunctivitis, Tige...	ORPHA:33364
Intermediate Uveitis	Anterior uveitis, Psoriasiform dermatitis, Cataract, Band keratopathy, Vasculitis, Tubulointersti...	ORPHA:279914
Congenital Erythropoietic Porphyria	Recurrent bacterial skin infections, Scarring alopecia of scalp, Splenomegaly, Loss of eyelashes,...	ORPHA:79277
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia	OMIM:606002
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Lymphangioma, Splenomegaly, Abnormality of the...	ORPHA:464329
Adiposis Dolorosa	Recurrent skin infections, Telangiectasia of the skin, Sparse axillary hair, Sparse pubic hair, X...	ORPHA:36397
Familial Melanoma	Abnormal hair morphology, Dry skin, Neoplasm of the pancreas, Abnormality of the lymphatic system	ORPHA:618
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Dilated cardiom...	OMIM:610768
Lupus Erythematosus Tumidus	Cutaneous photosensitivity, Deep dermal perivascular inflammatory infiltrate, Scaling skin	ORPHA:90283
Hatipoglu Immunodeficiency Syndrome	Anhidrosis, Eczema, Poor wound healing, Cryptorchidism, Atopic dermatitis, Dry skin, Premature gr...	OMIM:620331
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis	ORPHA:464318
Autosomal Recessive Cutis Laxa Type 2A	Corneal opacity, Thick hair, Progeroid facial appearance, Excessive wrinkled skin, Abnormal corne...	ORPHA:357058
Prolidase Deficiency	Abnormal fingernail morphology, Splenomegaly, Erythema, Low anterior hairline, Crusting erythemat...	ORPHA:742
Craniosynostosis-Mental Retardation-Clefting Syndrome	Dry skin, Chorioretinal coloboma	OMIM:218650
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Psoriasiform dermatitis, Eczema, Enlarged tonsils, Thyroiditis, Hepatos...	OMIM:606367
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Cutis marmorata, Mediastinal lymphadenopathy, Splen...	ORPHA:91138
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Corneal erosion, Hypohidrosis, Palmoplantar keratoderma, Erythroderma, Abnor...	ORPHA:79394
Distal Deletion 6P	Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of...	ORPHA:96125
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Bilateral cryptorchidism, Ankyloblepharon, Pterygium, Absent eyebrow, ...	OMIM:263650
Blau Syndrome	Xerostomia, Large vessel vasculitis, Posterior uveitis, Abnormal salivary gland morphology, Retro...	ORPHA:90340
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Angular cheiliti...	OMIM:613102
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperhidrosis, Palmoplantar hyp...	OMIM:615598
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Dermatoosteolysis, Kirghizian Type	Keratitis, Osteoarthritis, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dystrophi...	ORPHA:1657
Uv-Sensitive Syndrome 3	Cutaneous photosensitivity, Dry skin, Telangiectasia	OMIM:614640
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Hyphema, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anteri...	OMIM:221900
Arthrogryposis, Distal, Type 5	Keratoconus, Epicanthus, Keratoglobus, Astigmatism, Blepharophimosis, Ptosis	OMIM:108145
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Urticaria, Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Uv-Sensitive Syndrome 1	Cutaneous photosensitivity, Dry skin, Telangiectasia	OMIM:600630
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ...	ORPHA:91416
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Highly arched eyebrow, Cryptorchidism, Decreased corneal thickness, Decreased testicular size, Hi...	ORPHA:293967
Koolen-De Vries Syndrome	Ptosis, Epicanthus, Cataract, Eczema, Abnormality of hair texture, Cryptorchidism, Dry skin, Upsl...	OMIM:610443
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Leukonychia Totalis	Abnormal fingernail morphology, Abnormal eyelash morphology, Adenoma sebaceum, Abnormal toenail m...	ORPHA:2387
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac...	OMIM:610655
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Epicanthus, Supernumerary nipple, Abnormal eyelid morphology, Cryptorchidism, Hypothyroidism, Apl...	ORPHA:1812
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity, Cryptorchidism, Hypohidrosis, Hyperkeratosis, Testicular seminoma	ORPHA:281090
Ataxia-Photosensitivity-Short Stature Syndrome	Urticaria, Cutaneous photosensitivity, Dry skin	ORPHA:1184
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Corneal opacity, Cryptorchidism, Eyelid coloboma, Iris ...	ORPHA:1647
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Abnormality of the spleen, Darier's sign, Urticaria, Lymphadenopathy...	ORPHA:79456
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion	ORPHA:411777
Amyloidosis, Primary Localized Cutaneous, 3	Cutaneous photosensitivity, Dry skin	OMIM:617920
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Alopecia, Myositis, Pericarditis, Skin rash, An...	ORPHA:93672
Ichthyosis, X-Linked	Testicular neoplasm, Cryptorchidism, Hypohidrosis, Palmoplantar keratoderma, Opacification of the...	OMIM:308100
Anonychia With Flexural Pigmentation	Anonychia, Dry skin	OMIM:106750
Beta-Mercaptolactate Cysteine Disulfiduria	Dry skin, Downslanted palpebral fissures	ORPHA:1035
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Epicanthus, Highly arched eyebrow, Elevated circulating luteinizing hormone lev...	OMIM:618419
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis, Erythroderma	OMIM:113800
Hallermann-Streiff Syndrome	Sparse scalp hair, Cataract, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Recurrent pneumoni...	OMIM:234100
Brittle Cornea Syndrome	Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo...	ORPHA:90354
Thyrotropin-Releasing Hormone Deficiency	Hypothalamic hypothyroidism, Dry skin, Hypothyroidism	OMIM:275120
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive...	OMIM:187300
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Cryptorchidism, Upslanted palpebral fissure, Hypertrophic cardiomyopathy	ORPHA:496790
Leprosy	Absent eyebrow, Alopecia, Epistaxis, Abnormality of the spleen, Loss of eyelashes, Penetrating fo...	ORPHA:548
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Corneal astigmatism, Abnormal lacrimal sac morphology, Ectropi...	ORPHA:141083
Multiple Sulfatase Deficiency	Cataract, Corneal opacity, Splenomegaly, Coarse hair, Thick eyebrow	ORPHA:585
Bare Lymphocyte Syndrome, Type I	Ectopia lentis, Bronchiectasis, Skin ulcer, Chronic otitis media, Chronic sinusitis	OMIM:604571
Leber Congenital Amaurosis 2	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:204100
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Cardiofaciocutaneous Syndrome	Brittle hair, Redundant skin, Sparse hair, Dystrophic fingernails, Abnormal eyelash morphology, C...	ORPHA:1340
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hypohidrosis, Hyperkeratosis, On...	ORPHA:1028
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Squalene Synthase Deficiency	Epicanthus, Bilateral cryptorchidism, Abnormality of hair pigmentation, Dry skin, Cutaneous photo...	OMIM:618156
8Q21.11 Microdeletion Syndrome	Ptosis, Epicanthus, Cataract, Corneal opacity, Eczema, Sclerocornea, Cryptorchidism, Blepharophim...	ORPHA:284160
Leber Congenital Amaurosis 4	Keratoconus, Attenuation of retinal blood vessels	OMIM:604393
Pterygium Of Conjunctiva And Cornea	Abnormal conjunctiva morphology, Pterygium	OMIM:178000
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome	Dry skin	ORPHA:2271
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Red eye, Anisocoria, Posterior synec...	ORPHA:263479
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Hyperkeratosis, Erythema, Dry skin, Scaling skin	OMIM:614457
Congenital Sialidosis Type 2	Abnormal EKG, Cataract, Corneal opacity, Developmental cataract, Telangiectasia, Hepatosplenomega...	ORPHA:93400
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Low anterior hairline, Corneal opacity	OMIM:613153
Hydroa Vacciniforme	Keratitis, Epiphora	ORPHA:330058
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Hirsutism, Woolly hair, Dry skin, B...	OMIM:619244
Mucolipidosis Iv	Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Cor...	OMIM:148210
Ichthyosis, Congenital, Autosomal Recessive 2	Anhidrosis, Alopecia, Epidermal acanthosis, Thin nail, Abnormal hair morphology, Erythema, Hypohi...	OMIM:242100
Fucosidosis	Anhidrosis, Petechiae, Angiokeratoma, Splenomegaly, Bruising susceptibility, Tortuosity of conjun...	OMIM:230000
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:602723
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Congenital Rubella Syndrome	Cataract, Skin rash, Corneal opacity, Splenomegaly, Jaundice, Aplasia/Hypoplasia of the iris	ORPHA:290
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Abnormal eyelid morphology, Low anterior hairline, Upper eyelid coloboma, Coarse ha...	ORPHA:2095
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Acrokeratosis Verruciformis	Ridged nail, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Epidermal acanthosis	OMIM:101900
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ta...	ORPHA:39812
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Anhidrosis, Decreased number of sweat glands, Punctate palmoplantar hyp...	ORPHA:69087
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Lagophthalmos, Splenomegaly, Bilateral ptosis, Corneal scarring, Corneal neovascularization	ORPHA:404454
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Vasculitis, Lymphadenopathy, Hematochez...	OMIM:617718
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, ...	OMIM:305100
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Symblepharon, Recurrent loss of toenails and fingernails, Skin ulcer, Nail dystrophy, Corneal pte...	OMIM:245660
Heme Oxygenase 1 Deficiency	Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Hype...	OMIM:614034
Tularemia	Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology, ...	ORPHA:3392
Gapo Syndrome	Keratoconus, Prominent scalp veins, Alopecia, Epicanthus, Sparse eyelashes, Redundant skin, Spars...	OMIM:230740
Reynolds Syndrome	Skin rash, Telangiectasia of the skin, Jaundice, Xerostomia, Skin ulcer, Arthritis, Keratoconjunc...	ORPHA:779
Prolidase Deficiency	Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Diffuse telangiectas...	OMIM:170100
Peeling Skin Syndrome 6	Parakeratosis, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Small pitui...	OMIM:614195
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:204000
Dubowitz Syndrome	Hypoparathyroidism, Sparse scalp hair, Ptosis, Cataract, Abnormal fingernail morphology, Eczema, ...	ORPHA:235
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep...	ORPHA:87503
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Alpha-Mannosidosis	Cataract, Corneal opacity, Splenomegaly, Arthritis, Chronic otitis media, Generalized abnormality...	ORPHA:61
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity, Telecanthus	ORPHA:1064
Retinitis Pigmentosa	Keratoconus, Cataract, Abnormal testis morphology, Abnormal retinal vascular morphology	ORPHA:791
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Iris col...	OMIM:615145
Congenital Disorder Of Glycosylation, Type Iil	Epicanthus, Splenomegaly, Hypohidrosis, Hyperkeratosis, Inflammation of the large intestine, Dry ...	OMIM:614576
Brooke-Spiegler Syndrome	Skin appendage neoplasm, Salivary gland neoplasm, Skin ulcer, Abnormality of the submandibular gl...	ORPHA:79493
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
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
Rodrigues Blindness	Sclerocornea, Fine hair, Microcornea, Ectodermal dysplasia, Sparse hair	OMIM:268320
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Eczema, Pustule, Erythema, Xerostomia, Skin ulcer, Keratoconjunctivit...	ORPHA:2907
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Persistent pupillary membrane, Woolly sca...	ORPHA:79414
Microphthalmia, Syndromic 16	Ankyloblepharon, Sclerocornea	OMIM:611038
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Conjunctival icterus, Jaundice, Splenomegaly, Hepatitis, Pallor, Cholelithiasis	OMIM:194380
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, Corneal perforation...	ORPHA:289390
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Telecanthus, Redundant neck skin, Corneal opacity, Cryptorchidism, Abnormal left ventricular func...	OMIM:301056
Proliferating Trichilemmal Cyst	Sparse scalp hair, Skin ulcer	ORPHA:492
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Hypohidrotic ectodermal dysplasia, Sparse ...	OMIM:614940
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Palmoplantar hyperhidrosis, Pal...	OMIM:150400
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail ...	OMIM:242300
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Iridocyclitis, Oligoar...	ORPHA:85436
Kerion Celsi	Lymphadenopathy	ORPHA:499
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia	OMIM:619126
Sialidosis Type 2	Splenomegaly, Corneal opacity	ORPHA:87876
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Recurrent cutaneous abscess formation, Abnormal hair whorl, Synophrys, Cry...	ORPHA:163956
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Decreased lacrimation, Corneal ulceration, Corneal scarring, Hypohidrosis	OMIM:616488
Paroxysmal Hemicrania	Conjunctival hyperemia, Palpebral edema, Epiphora, Ptosis	ORPHA:157835
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis	OMIM:620148
Zellweger Syndrome	Epicanthus, Cataract, Corneal opacity, Abnormal chorioretinal morphology, Brushfield spots, Crypt...	ORPHA:912
Wagro Syndrome	Cataract, Corneal opacity, Hypertension, Aniridia, Downslanted palpebral fissures, Decreased test...	OMIM:612469
Kanzaki Disease	Telangiectasia of the oral mucosa, Lip telangiectasia, Tortuosity of conjunctival vessels, Angiok...	OMIM:609242
Atrophoderma Vermiculata	Heart block, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic p...	ORPHA:79100
Night Blindness, Congenital Stationary, Type 1C	Dry skin	OMIM:613216
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Cataract, Hyperkeratosis, Abnormal cornea morphology, Iris coloboma	ORPHA:2611
Cornelia De Lange Syndrome	Cataract, Cutis marmorata, Curly eyelashes, Highly arched eyebrow, Cryptorchidism, Synophrys, Low...	ORPHA:199
Proteus-Like Syndrome	Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnormality of the parathy...	ORPHA:2969
Encephalocraniocutaneous Lipomatosis	Alopecia, Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, ...	OMIM:613001
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
9P13 Microdeletion Syndrome	Epicanthus, Hyperconvex nail, Highly arched eyebrow, Hypoplastic toenails, Recurrent otitis media...	ORPHA:324313
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis, Fragile skin	OMIM:615028
Paroxysmal Extreme Pain Disorder	Lacrimation abnormality	OMIM:167400
Werner Syndrome	Sparse scalp hair, Cataract, Prematurely aged appearance, Telangiectasia of the skin, Myocardial ...	ORPHA:902
Hajdu-Cheney Syndrome	Telecanthus, Cataract, Abnormal fingernail morphology, Mitral stenosis, Splenomegaly, Synophrys, ...	ORPHA:955
Acrogeria	Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Fine hair, Excessive wrinkle...	ORPHA:2500
Leber Congenital Amaurosis 8	Keratoconus, Choriocapillaris atrophy, Cataract, Chorioretinal atrophy	OMIM:613835
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Naxos Disease	Prolonged QRS complex, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebrow, Diffuse pa...	OMIM:601214
Incontinentia Pigmenti	Ridged nail, Uveitis, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alopecia, Alopecia, Macu...	OMIM:308300
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Raynaud phe...	ORPHA:90280
Unilateral Ocular Duplication	Abnormal eyebrow morphology, Abnormal pupil morphology, Microcornea, Blepharophimosis, Iris coloboma	ORPHA:3374
Pterygium, Antecubital	Antecubital pterygium	OMIM:178200
Plague	Chapped lip, Tachycardia, Skin rash, Erythema nodosum, Lymphadenitis, Hematemesis, Splenomegaly, ...	ORPHA:707
Huriez Syndrome	Lack of skin elasticity, Palmoplantar keratoderma, Small nail, Dry skin, Abnormality of the nail	ORPHA:384
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Dry skin, Scaling skin, Erythroderma	OMIM:609180
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Lacrimation abnormality, Syno...	ORPHA:3440
Chilblain Lupus 1	Raynaud phenomenon, Chilblains, Abnormality of the nail, Skin ulcer	OMIM:610448
Bacterial Toxic-Shock Syndrome	Shock, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, R...	ORPHA:36234
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Intellectual Developmental Disorder, Autosomal Dominant 54	Anhidrosis, Eczema, Thin nail, Astigmatism, Sparse hair, Dry skin	OMIM:617799
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Epicanthus, Synophrys, Upslanted palpebral fissure, Hydrocele testis, Blepharitis, Pulmonary arte...	ORPHA:280633
Grubben-De Cock-Borghgraef Syndrome	Dry skin, Eczema	ORPHA:2101
Spinocerebellar Ataxia Type 34	Urticaria, Dry skin, Hypohidrosis	ORPHA:1955
Familial Cold Urticaria	Erythema, Hyperhidrosis, Urticaria, Arthritis, Conjunctivitis	ORPHA:47045
Scheie Syndrome	Aortic regurgitation, Aortic valve stenosis, Corneal opacity	OMIM:607016
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Cataract, Abnormal fingernail morphology, Adrenal hyperplasia, Prim...	ORPHA:3453
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Ectropion, Cryptorchidism, Ocular albinism, ...	ORPHA:2719
Keratoconus Posticus Circumscriptus	Keratoconus, Central posterior corneal opacity	OMIM:244600
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Hepatosplenomegaly, Generalized hypertrichosis, Cherry red spot of the...	ORPHA:93399
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Microcorne...	OMIM:234050
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Retinoschisis 1, X-Linked, Juvenile	Vitreous hemorrhage	OMIM:312700
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
3Mc Syndrome 3	Corneal opacity, Highly arched eyebrow, Cryptorchidism, Blepharophimosis, Epicanthus inversus, Pt...	OMIM:248340
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Cryptorchidism, Dry skin, Follicular hyperkeratosis	ORPHA:486815
Leber Congenital Amaurosis	Keratoconus, Cataract	ORPHA:65
Lowry-Maclean Syndrome	Corneal opacity, Bilateral cryptorchidism, Developmental glaucoma, Generalized hypertrichosis, Me...	ORPHA:2409
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Amoebic Keratitis	Anterior uveitis, Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Sialidosis Type 1	Cataract, Corneal opacity, Splenomegaly, Hyperkeratosis, Cherry red spot of the macula, Vascular ...	ORPHA:812
Free Sialic Acid Storage Disease	Splenomegaly, Skin ulcer, Iris hypopigmentation	ORPHA:834
Chime Syndrome	Epicanthus, Corneal opacity, Erythema, Skin ulcer, Fine hair, Upslanted palpebral fissure, Hyperk...	ORPHA:3474
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Raynaud phenomen...	OMIM:611773
Immunodeficiency 58	Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic...	OMIM:618131
Alacrima, Congenital, Autosomal Recessive	Punctate corneal epithelial erosions, Alacrima	OMIM:601549
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hypoalbuminemia, Conjunctival hyperemia, Inte...	ORPHA:99826
Hypothyroidism, Congenital, Nongoitrous, 6	Impaired sensitivity to thyroid hormone, Dry skin, Increased T3/T4 ratio, Congenital hypothyroidism	OMIM:614450
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pustule, Erythema, Crusting erythematous dermatitis, Scali...	ORPHA:79481
Hurler-Scheie Syndrome	Aortic regurgitation, Corneal opacity, Splenomegaly, Mitral regurgitation, Pulmonary arterial hyp...	OMIM:607015
Oculoauriculofrontonasal Syndrome	Limbal dermoid, Upper eyelid coloboma	ORPHA:398156
Chondroectodermal Dysplasia With Night Blindness	Abnormal hair morphology, Nail dystrophy, Epiphora, Hyperhidrosis	ORPHA:319195
Complex Regional Pain Syndrome	Abnormality of hair growth, Erythema, Slow-growing nails, Dry skin	ORPHA:83452
Perlman Syndrome	Hepatomegaly, Epicanthus, Cryptorchidism, Abnormal pancreas morphology, Ptosis	ORPHA:2849
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhag...	OMIM:175780
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Psoriasiform lesion, Hepatosplenomegaly, Lymphadenopathy, Erythroderma	ORPHA:169154
Inflammatory Skin And Bowel Disease, Neonatal, 2	Epidermal acanthosis, Pustule, Recurrent pneumonia, Hypertension, Long eyelashes	OMIM:616069
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension, Corneal opacity	OMIM:166300
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Anhidrosis, Dry hair, Prematurely aged appearance, Progeroid...	OMIM:133540
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Cryptophthalmos	OMIM:615877
De Barsy Syndrome	Epicanthus, Cataract, Corneal opacity, Progeroid facial appearance, Cryptorchidism, Prominent vei...	ORPHA:2962
Hurler Syndrome	Aortic regurgitation, Corneal opacity, Bilateral ptosis, Splenomegaly, Enlarged tonsils, Hepatosp...	OMIM:607014
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ...	OMIM:608710
21Q22.11Q22.12 Microdeletion Syndrome	Almond-shaped palpebral fissure, Nail dystrophy, Hypoplastic nipples, Small nail, Recurrent otiti...	ORPHA:261323
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Epicanthus, Upslanted palpebral fissure	ORPHA:401777
Congenital Lethal Erythroderma	Urticaria, Congenital exfoliative erythroderma, Dry skin	ORPHA:1954
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Reduced radioactive iodine uptake, Abnormality of thyroid physiology, Prolonged neonatal jaundice...	ORPHA:95715
Fish-Eye Disease	Splenomegaly, Angina pectoris, Corneal opacity, Lymphadenopathy	ORPHA:79292
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma, Polycystic ovaries	ORPHA:1643
Basan Syndrome	Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrophy, Palmoplanta...	OMIM:129200
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Recurrent pneumonia, Cheilitis, Hypohidrosis, Palmoplanta...	ORPHA:158668
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of the tonsil...	ORPHA:229717
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin...	ORPHA:464321
Immunodeficiency, Common Variable, 2	Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Conju...	OMIM:240500
Farber Disease	Corneal opacity, Hepatosplenomegaly, Lymphadenopathy, Arthritis, Abnormal conjunctiva morphology,...	ORPHA:333
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Corneal opacity, Developmental cataract, Cutis laxa, Premature skin wrinkli...	OMIM:616603
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Cranioectodermal Dysplasia 3	Telecanthus, Short nail, Broad nail, Cutis laxa, Fine hair, Ectodermal dysplasia, Sparse hair, Dr...	OMIM:614099
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Uve...	OMIM:186580
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Hemophagocytic Lymphohistiocytosis, Familial, 4	Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Conjunctivitis	OMIM:603552
Thyroid Dyshormonogenesis 1	Dry skin, Hypothyroidism, Goiter	OMIM:274400
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Nail-Patella Syndrome	Ridged nail, Keratoconus, Ptosis, Cataract, Glomerulonephritis, Concave nail, Antecubital pterygi...	OMIM:161200
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Entropion, Sudden cardiac death, Acantholysis, Corneal erosion, Eryt...	ORPHA:537
Neuhauser Syndrome	Iridodonesis, Epicanthus, Low anterior hairline, Hypoplasia of the iris, Primary hypothyroidism, ...	OMIM:249310
Arterial Tortuosity Syndrome	Keratoconus, Aortic regurgitation, Progeroid facial appearance, Cutis laxa, Hypertension, Astigma...	OMIM:208050
Tyrosinemia Type 2	Corneal opacity, Hyperhidrosis, Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:28378
Kindler Epidermolysis Bullosa	Recurrent skin infections, Corneal opacity, Erythema, Cheilitis, Hyperkeratosis, Inflammation of ...	ORPHA:2908
Mpdu1-Cdg	Eczema, Scaling skin, Decreased response to growth hormone stimulation test	ORPHA:79323
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Barber-Say Syndrome	Telecanthus, Absent nipple, Sparse eyelashes, Redundant skin, Ectropion, Sparse eyebrow, Epibleph...	OMIM:209885
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Trichiasis, Acantho...	ORPHA:95455
Juvenile Hyaline Fibromatosis	Abnormal hair morphology, Skin ulcer	ORPHA:2028
Gomez-Lopez-Hernandez Syndrome	Alopecia, Downslanted palpebral fissures, Decreased response to growth hormone stimulation test, ...	OMIM:601853
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Cutaneous photosensitivity, V...	ORPHA:163525
Zika Virus Disease	Maculopapular exanthema, Skin rash, Subcutaneous hemorrhage, Chorioretinal atrophy, Arthritis, Co...	ORPHA:448237
Dermatomyositis	Abnormal hair quantity, Pericarditis, Sinus tachycardia, Telangiectasia of the skin, Myocardial i...	ORPHA:221
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Cutis marmorata, Recurrent pneumonia, Bronchiectasis, Corneal scarring, Hypohidrosis, Hyperkerato...	OMIM:301220
Alagille Syndrome	Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Cryptorchidism, Abnormal pupil morpho...	ORPHA:52
Chromosome 6Pter-P24 Deletion Syndrome	Epicanthus, Telecanthus, Telangiectasia, Frontal upsweep of hair, Axenfeld anomaly, Opacification...	OMIM:612582
Acral Self-Healing Collodion Baby	Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber	OMIM:618880
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Uveitis, Urticaria, Arthritis, Conjunctivitis	OMIM:120100
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, Whit...	OMIM:604777
Juvenile Temporal Arteritis	Vasculitis, Conjunctivitis, Allergic rhinitis, Cerebral ischemia	ORPHA:26137
Hereditary Sensory And Autonomic Neuropathy Type 4	Anhidrosis, Fasciitis, Osteomyelitis, Bruising susceptibility, Corneal scarring, Hyperhidrosis, A...	ORPHA:642
Lujo Hemorrhagic Fever	Shock, Elevated circulating C-reactive protein concentration, Excessive bleeding after a venipunc...	ORPHA:319213
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Congenital hypothyroidism, Bradycardia, Prolonged neonatal jaundice, Decreased circulating T4 con...	ORPHA:226313
Sheehan Syndrome	Orthostatic hypotension, Decreased circulating cortisol level, Sparse axillary hair, Hashimoto th...	ORPHA:91355
Microphthalmia With Brain And Digit Anomalies	Cataract, Sclerocornea, Cryptorchidism, Microcornea, Nail dysplasia, Chorioretinal coloboma, Iris...	ORPHA:139471
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Buerger Disease	Acrocyanosis, Vasculitis, Skin ulcer, Hyperhidrosis	ORPHA:36258
Xfe Progeroid Syndrome	Prematurely aged appearance, Corneal scarring, Hypertension, Cutaneous photosensitivity, Dry skin...	OMIM:610965
Fucosidosis	Corneal opacity, Hypothyroidism, Vascular skin abnormality, Hyperhidrosis, Acrocyanosis, Generali...	ORPHA:349
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization	OMIM:193235
Takayasu Arteritis	Increased inflammatory response, Myocardial infarction, Vasculitis, Skin ulcer, Hyperhidrosis, Ar...	ORPHA:3287
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Osteomyelitis, Acral ulceration, Cataract	OMIM:162400
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Tremor, Blepharospasm, Dystonia, Conjunctival hyperemia, Decreased lacrimation	ORPHA:240071
Dowling-Degos Disease 4	Epidermal acanthosis	OMIM:615696
Muckle-Wells Syndrome	Conjunctival hyperemia, Conjunctivitis, Recurrent aphthous stomatitis, Maculopapular exanthema	OMIM:191900
Epidermolytic Palmoplantar Keratoderma	Abnormal fingernail morphology, Epidermal acanthosis, Epidermal hyperkeratosis, Diffuse palmoplan...	ORPHA:2199
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Dry skin, Hypertrichosis, Onychauxis	OMIM:262190
Oculoectodermal Syndrome	Epicanthus, Transient ischemic attack, Supernumerary nipple, Chorioretinal atrophy, Pineal cyst, ...	OMIM:600268
1Q41Q42 Microdeletion Syndrome	Upslanted palpebral fissure, Cryptorchidism, Abnormality iris morphology, Small nail	ORPHA:250999
Erythrokeratodermia Variabilis Et Progressiva 4	Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis	OMIM:617526
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Prominent superficial veins, Sparse eyelashes, Progeroid facial appe...	OMIM:614008
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Erythema, Epididymitis, Arthritis, Chorioret...	OMIM:109650
Radial Heads, Posterior Dislocation Of	Antecubital pterygium	OMIM:179200
Toriello-Lacassie-Droste Syndrome	Epicanthus, Telecanthus, Blepharophimosis, Abnormal conjunctiva morphology, Eyelid coloboma, Limb...	ORPHA:3339
Muckle-Wells Syndrome	Episcleritis, Skin rash, Splenomegaly, Vasculitis, Uveitis, Urticaria, Arthritis, Conjunctivitis,...	ORPHA:575
Mucopolysaccharidosis, Type Vii	Epicanthus, Corneal opacity, Splenomegaly, Hirsutism, Cardiomyopathy, Coarse hair, Recurrent otit...	OMIM:253220
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin...	ORPHA:727
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Anhidrosis, Dry hair, Cataract, Prematurely aged appearance,...	OMIM:216400
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis, Epidermal acanthosis, Cutis laxa	ORPHA:79148
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perianal erythema, Splenomegaly, Paronychia, Dry skin, Perioral erythema, Alopecia of scalp, Decr...	OMIM:201100
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Myositis, Skin rash, Maculopapular exanthema, Cervical lymphadenopat...	OMIM:142680
Relapsing Polychondritis	Episcleritis, Alopecia, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Eryt...	ORPHA:728
Hurler Syndrome	Corneal opacity, Angina pectoris, Abnormality of the tonsils, Splenomegaly, Cardiomyopathy, Hyper...	ORPHA:93473
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Keratoconus, Gastrointestinal hemorrhage, Epicanthus, Poor wound healing, Congestive heart failur...	OMIM:225400
Hypothyroidism, Congenital, Nongoitrous, 4	Decreased circulating T4 concentration, Dry skin, Hypothyroidism	OMIM:275100
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Corneal opacity, Erythema, Palmoplantar keratoderma, Nail dy...	ORPHA:79396
Hereditary Mucoepithelial Dysplasia	Alopecia, Cataract, Corneal dystrophy, Fine hair, Hyperkeratosis, Sparse hair	ORPHA:1839
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Cataract, Corneal scarring, Conjunctivitis, Nail dystrophy, Nail dysplasia, Fragile skin	OMIM:226600
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Fine hair, Narrow palpebral fissure, Dry skin, Downslanted palpebral fissures, Aplasia/Hypoplasia...	ORPHA:2637
Tbck-Related Intellectual Disability Syndrome	Epicanthus, Hyperthyroidism, Corneal opacity, Eczema, Decreased response to growth hormone stimul...	ORPHA:488632
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Attenuated Chédiak-Higashi Syndrome	Bruising susceptibility, Ocular albinism, Epistaxis, Skin ulcer	ORPHA:352723
Lymphedema-Distichiasis Syndrome	Cataract, Recurrent skin infections, Ectropion, Corneal erosion, Tubulointerstitial nephritis, Co...	ORPHA:33001
Restrictive Dermopathy	Telecanthus, Entropion, Generalized hyperkeratosis, Short nail, Epidermal hyperkeratosis, Sparse ...	ORPHA:1662
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity	ORPHA:2788
Immunodeficiency 104	Splenomegaly, Lymphadenopathy	OMIM:608971
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Cataract, Eczema, Congestive heart failure...	ORPHA:508542
Gapo Syndrome	Keratoconus, Alopecia, Sparse eyelashes, Prematurely aged appearance, Palpebral edema, Sparse eye...	ORPHA:2067
Non-Epidermolytic Palmoplantar Keratoderma	Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Lacrimation abnormality	ORPHA:1135
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Alopecia, Chronic active hepatitis, Atrophic gastritis, Cataract, Asplenia, I...	OMIM:240300
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Cataract, Corneal opacity, Pneumonia, Hepatosplenomegaly	ORPHA:309288
Mucopolysaccharidosis Type 1	Sinusitis, Corneal opacity, Abnormality of the tonsils, Congestive heart failure, Splenomegaly, L...	ORPHA:579
Proboscis Lateralis	Abnormal eyebrow morphology, Epicanthus, Cataract, Abnormal location of the eyebrow, Corneal opac...	ORPHA:141099
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Conjunctivitis, Recurrent sinusitis	OMIM:613493
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Sjogren-Larsson Syndrome	Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, Orthokeratotic hy...	OMIM:148700
Gm1 Gangliosidosis	Corneal opacity, Abnormal retinal vascular morphology, Congestive heart failure, Splenomegaly, He...	ORPHA:354
Aicardi-Goutières Syndrome	Myositis, Cutis marmorata, Chilblains, Raynaud phenomenon, Developmental glaucoma, Hepatosplenome...	ORPHA:51
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Epicanthus, Hypothyroidism, Hypoplasia of the iris, Astigmatism, Megalocornea, Abno...	ORPHA:2479
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Small nail, Short palpebral fissure	ORPHA:364577
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Anhidrosis, Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar keratode...	ORPHA:659
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Epicanthus, Pterygium, Hypoplastic nipples, Multiple pterygia	OMIM:177980
Congenital Factor Xii Deficiency	Retinal arteriolar occlusion, Retinal vein occlusion, Penetrating foot ulcers	ORPHA:330
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad eyebrow, Corneal opacity, Corneal dystrophy, Sparse eyebrow, Cryptorchidism, Synophrys, Low...	ORPHA:495875
Giant Cell Arteritis	Alopecia, Pericarditis, Epistaxis, Sudden cardiac death, Mediastinal lymphadenopathy, Vasculitis,...	ORPHA:397
Immunodeficiency, Common Variable, 1	Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Conjunctivitis, Re...	OMIM:607594
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ...	ORPHA:57777
Branchio-Oculo-Facial Syndrome	Cataract, Nasolacrimal duct obstruction, Premature graying of hair, Microcornea, Upslanted palpeb...	ORPHA:1297
Riddle Syndrome	Dry skin	OMIM:611943
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media	OMIM:601457
Otoonychoperoneal Syndrome	Upslanted palpebral fissure, Popliteal pterygium, Abnormality of the nail	ORPHA:2793
Peroxisome Biogenesis Disorder 2A (Zellweger)	Epicanthus, Cataract, Palpebral edema, Brushfield spots, Cryptorchidism, Jaundice, Upslanted palp...	OMIM:214110
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, H...	OMIM:269200
Encephalocraniocutaneous Lipomatosis	Alopecia, Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, A...	ORPHA:2396
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Downslanted palpebral fissures, Iris coloboma	ORPHA:251038
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Skin rash, Choroidal neovascularization, An...	ORPHA:91500
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology	ORPHA:33111
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosu...	OMIM:616576
Scheie Syndrome	Aortic regurgitation, Splenomegaly, Rhinitis, Corneal opacity	ORPHA:93474
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Skin ulcer, Arthritis	ORPHA:231
Lipodystrophy, Familial Partial, Type 7	Reduced subcutaneous adipose tissue, Sparse scalp hair, Orthostatic hypotension, Cataract, Decrea...	OMIM:606721
Mucolipidosis Type Iv	Palmoplantar keratoderma, Corneal opacity	ORPHA:578
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Lacrimal duct atresia, Lacrimal duct aplasia, Conjunctivitis, Alacrima	OMIM:620192
Fusariosis	Myositis, Sinusitis, Fasciitis, Maculopapular exanthema, Pneumonia, Osteomyelitis, Keratitis, Abn...	ORPHA:228119
Olmsted Syndrome 2	Parakeratosis, Epidermal acanthosis, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkerato...	OMIM:619208
Arterial Tortuosity Syndrome	Keratoconus, Prematurely aged appearance, Redundant skin, Myocardial infarction, Telangiectasia o...	ORPHA:3342
Leptospirosis	Hepatomegaly, Pericarditis, First degree atrioventricular block, Conjunctival hyperemia, Jaundice...	ORPHA:509
Wiedemann-Rautenstrauch Syndrome	Hypoplasia of the thymus, Absent eyebrow, Alopecia, Prematurely aged appearance, Absent eyelashes...	OMIM:264090
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Fragile skin	ORPHA:542592
Axenfeld-Rieger Syndrome, Type 2	Telecanthus, Cryptorchidism, Microcornea, Opacification of the corneal stroma, Anterior chamber s...	OMIM:601499
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein expression	OMIM:247100
Oculodentodigital Dysplasia, Autosomal Recessive	Epicanthus, Cataract, Sparse eyelashes, Telecanthus, Fine hair, Microcornea, Persistent pupillary...	OMIM:257850
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Anhidrosis, Anhidrotic ectodermal dysplasia, Splenomegaly, Hypohidrosis, Aplas...	OMIM:612132
Premature Aging Syndrome, Penttinen Type	Prominent superficial veins, Corneal opacity, Prematurely aged appearance, Palmoplantar hyperkera...	OMIM:601812
Bone Marrow Failure Syndrome 4	Dry skin, Eczema	OMIM:618116
Angelman Syndrome	Keratoconus, Iris hypopigmentation, Astigmatism, Fair hair, Ptosis	ORPHA:72
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Synophrys, Facial erythema, Scaling skin, ...	OMIM:619503
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Corneal opacity	OMIM:163200
Ddost-Cdg	Dry skin, Primary hypothyroidism	ORPHA:300536
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De...	ORPHA:48818
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Chronic gastritis, Myocardial infarction, Bilateral cryptorchidism, Redundant ...	OMIM:150230
Chronic Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology, Prolonged neonatal jaundice	ORPHA:529808
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Cataract, Sclerocornea, Cryptorchidism, Downslanted palpebral fissures, Short palpebr...	OMIM:614230
Acute Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology, Prolonged neonatal jaundice	ORPHA:529799
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun...	OMIM:618052
Xeroderma Pigmentosum, Variant Type	Entropion, Keratitis, Cutaneous telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectro...	OMIM:278750
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Developmental glaucoma, Penetrating foot ulcers, Buphthalmos, Ptosis	ORPHA:99956
Severe Early-Childhood-Onset Retinal Dystrophy	Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Chorioretinal atrophy, P...	ORPHA:364055
Immunodeficiency 46	Conjunctivitis, Chronic oral candidiasis	OMIM:616740
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Epicanthus, Telecanthus, Pancreatic cysts, Hypertension, Coarse hair, Spa...	ORPHA:2750
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Kimura Disease	Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormal lymph node morphology	ORPHA:543
Ramos-Arroyo Syndrome	Sparse scalp hair, Keratitis, Dacryocystitis, Chorioretinal atrophy, Nasolacrimal duct obstructio...	ORPHA:1051
Familial Dysautonomia	Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion...	ORPHA:1764
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Epistaxis, Splenomegaly, Hepatosplenomegaly, Abnormal lymph node morphology, P...	OMIM:612840
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Telecanthus, Streak ovary, Ectropion, Duplicated lacrimal punctum, Highly...	ORPHA:572333
Autoimmune Hypoparathyroidism	Prolonged QT interval, Cataract, Autoimmune hypoparathyroidism, Chronic mucocutaneous candidiasis...	ORPHA:36913
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Sclerocornea, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Lacrimal duct a...	OMIM:300952
Leber Congenital Amaurosis 9	Keratoconus, Attenuation of retinal blood vessels	OMIM:608553
Trisomy 9P	Hypoplastic toenails, Abnormal pupil morphology, Fingernail dysplasia, Downslanted palpebral fiss...	ORPHA:236
Restrictive Dermopathy 1	Prominent superficial blood vessels, Entropion, Sparse eyelashes, Short nail, Epidermal hyperkera...	OMIM:275210
Ichthyosis Prematurity Syndrome	Epidermal acanthosis, Allergic rhinitis, Dermatographic urticaria, Follicular hyperkeratosis, Ery...	OMIM:608649
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Pericarditis, Chilblains, Portal hypertension, Chorioretinal atrophy, Hepatos...	OMIM:619487
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Scaling skin, Abno...	ORPHA:3464
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ptosis, Telecanthus, Epicanthus, Highly arched eyebrow, Palmoplantar hyperkeratosis, Fine hair, H...	OMIM:280000
Den Hoed-De Boer-Voisin Syndrome	Widow's peak, Dry skin, Downslanted palpebral fissures, Thick eyebrow	OMIM:619229
Crouzon Syndrome	Conjunctivitis, Iris coloboma, Ptosis	ORPHA:207
Frontonasal Dysplasia 2	Telecanthus, Sparse eyelashes, Alopecia totalis, Blepharophimosis, Bilateral cryptorchidism, Spar...	OMIM:613451
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis, Hypohidrosis, Hyperkeratosis, Erythroderma, Orthokeratosis, Ectropion	OMIM:615023
Focal Dermal Hypoplasia	Alopecia, Corneal opacity, Telangiectasia of the skin, Ectopia lentis, Erythema, Hypoplasia of th...	ORPHA:2092
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Acrocraniofacial Dysostosis	Telecanthus, Lacrimation abnormality, Downslanted palpebral fissures, Ptosis	ORPHA:949
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Dry skin	OMIM:618527
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Oculodentodigital Dysplasia	Curly hair, Epicanthus, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Cataract...	ORPHA:2710
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Skin rash, Splenomegaly, Angioedema, Uveitis, Lymphadenopathy, Arthritis, Conjuncti...	ORPHA:36412
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Abnormality of the orbital region, Polycystic ovaries, Arthritis, Hyperte...	ORPHA:371428
Reticular Dysgenesis	Chronic otitis media, Skin rash, Aplasia/Hypoplasia of the thymus, Skin ulcer	ORPHA:33355
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Walker-Warburg Syndrome	Cataract, Corneal opacity, Chorioretinal dysplasia, Cryptorchidism, Microcornea, Iris coloboma	ORPHA:899
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Erythema, Vasc...	ORPHA:32960
Autosomal Agammaglobulinemia	Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepat...	ORPHA:33110
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Cryptorchidism, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin	OMIM:613990
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Cyanosis, Corneal opacity, Tachycardia, Atrial fi...	ORPHA:137675
Xeroderma Pigmentosum, Complementation Group E	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectropion	OMIM:278740
Lacrimoauriculodentodigital Syndrome 3	Absent lacrimal punctum, Epicanthus, Absent eyelashes, Xerostomia, Lacrimal duct aplasia, Alacrima	OMIM:620193
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Acral ulceration, Skin ulcer	ORPHA:139578
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Conjunctivitis, Chronic sinusitis	OMIM:612692
Chand Syndrome	Curly hair, Ankyloblepharon, Hypohidrosis, Nail dysplasia, Dry skin	ORPHA:1401
Johanson-Blizzard Syndrome	Absent lacrimal punctum, Alopecia, Lacrimation abnormality, Abnormal hair pattern, Exocrine pancr...	ORPHA:2315
Collagenoma, Familial Cutaneous	Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Pri...	OMIM:115250
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Lymphadenopathy, Arthritis,...	ORPHA:69126
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Eczema, Congestive heart failure, Hypotension, Arrhythm...	ORPHA:428
Wilson Disease	Splenomegaly, Jaundice, Hepatitis, Kayser-Fleischer ring, Arthritis, Acute hepatitis, Bruising su...	ORPHA:905
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Dominant Beta-Thalassemia	Hypoparathyroidism, Hypopituitarism, Hypersplenism, High-output congestive heart failure, Jaundic...	ORPHA:231226
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Kindler Syndrome	Ridged nail, Telangiectasia of the skin, Symblepharon, Corneal erosion, Palmoplantar hyperkeratos...	OMIM:173650
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Nasolacrimal duct obstruction, Ectodermal dysplasia, Hypoplastic nipples, Small nail, Sparse hair...	OMIM:273400
Beta-Thalassemia	Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis, Hypertrophic cardiomyopathy	ORPHA:848
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:613154
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Abnormal hair morphology, Paronychia, Skin ulcer, Skin vesicle,...	ORPHA:2314
Sarcoidosis	Heart block, Ventricular tachycardia, Uveitis, Tubulointerstitial nephritis, Hypothyroidism, Alop...	ORPHA:797
Mucopolysaccharidosis Type 3	Cataract, Corneal opacity, Thick hair, Adenoiditis, Splenomegaly, Synophrys, Recurrent tonsilliti...	ORPHA:581
Syndromic Diarrhea	Aortic regurgitation, Hypopigmentation of hair, Brittle hair, Gastritis, Splenomegaly, Colitis, H...	ORPHA:84064
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Axillary pterygium, Nail dystrophy, Nail dysplasia, Anonychia, Fragile skin, Ectropion	OMIM:226730
Branchiootorenal Syndrome 1	Lacrimation abnormality, Lacrimal duct stenosis, Lacrimal duct aplasia, Euthyroid goiter, Gustato...	OMIM:113650
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced radioactive iodine uptake, Reduced circulating prolactin concentration, Pituitary hypothy...	ORPHA:99832
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Enlarged ovaries, Thick hair, Onychauxis, Hypothyroidism, Lo...	ORPHA:769
Sanjad-Sakati Syndrome	Hypoparathyroidism, Corneal opacity, Cryptorchidism, Astigmatism, Congenital hypoparathyroidism	ORPHA:2323
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Exudative Vitreoretinopathy 4	Vitreous hemorrhage	OMIM:601813
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, A...	ORPHA:85410
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Limited Cutaneous Systemic Sclerosis	Pulmonary arterial hypertension, Telangiectasia of the skin, Skin ulcer, Mucosal telangiectasiae	ORPHA:220402
Spondylospinal Thoracic Dysostosis	Multiple pterygia	OMIM:601809
Lymphedema-Distichiasis Syndrome	Ectropion, Yellow nails, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions, Arrhythm...	OMIM:153400
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Ablepharon, Hypoplasia of eyelid, Redundant skin, Absent eyelashes, Hypoplastic n...	OMIM:200110
Mu-Heavy Chain Disease	Splenomegaly, Nephropathy, Bence Jones Proteinuria, Lymphadenopathy	ORPHA:100024
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Sparse eyelashes, Pterygium of nails, Nasolacrimal duct obstruction, Palmoplan...	OMIM:224230
Hydroxykynureninuria	Stomatitis, Tachycardia, Dry skin, Hypotension	ORPHA:79155
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Osteomyelitis, Generalized hirsutism, Skin ulcer	ORPHA:2218
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Upslanted palpebral fissure, Dry skin, Accessory spleen	OMIM:619306
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Blepharophimosis, Abnormal pupil morpholo...	ORPHA:233
Oculodentodigital Dysplasia	Dry hair, Cataract, Slow-growing hair, Epicanthus, Blepharophimosis, Uveitis, Fine hair, Microcor...	OMIM:164200
Shigellosis	Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Urticaria, Arthritis, Hypovolem...	ORPHA:810
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Chemosis, Nephritis, Infectious enceph...	ORPHA:73263
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Ptosis, Redundant neck skin, Corneal opacity, Redundant skin, Prematurely a...	ORPHA:90348
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokerat...	OMIM:617525
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Pneumonia, Pustule, Skin ulcer, Arrhythmia, Corneal perforation, Conjunctival hyperemi...	ORPHA:68
Ophthalmoplegia, Familial Static	Anisocoria, Ptosis	OMIM:165000
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Pustule, Erythema, Oli...	OMIM:614204
Ameloonychohypohidrotic Syndrome	Hypohidrosis, Dry skin, Onycholysis, Seborrheic dermatitis	OMIM:104570
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:444463
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ...	OMIM:258360
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Poor wound healing, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis	ORPHA:36386
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Lethal Congenital Contracture Syndrome 5	Retinal hemorrhage, Subdural hemorrhage, Elevated circulating creatine kinase concentration	OMIM:615368
Cystinosis	Hypothyroidism, Corneal opacity, Portal hypertension	ORPHA:213
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Scarring alopecia of scalp, Ectopia pupillae, Astigmatism, Unilateral narrow palpebral ...	OMIM:618727
Eales Disease	Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vitreous hemorrhage,...	ORPHA:40923
Cockayne Syndrome Type 2	Progeroid facial appearance, Cryptorchidism, Uveitis, Developmental cataract, Conjunctivitis	ORPHA:90322
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria, Alacrima	OMIM:300858
Mosaic Trisomy 9	Corneal opacity, Asplenia, Cryptorchidism, Upslanted palpebral fissure, Small nail	ORPHA:99776
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr...	ORPHA:97339
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Epicanthus, Lacrimation abnormality, Low posterior hairline	ORPHA:2916
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Orthostatic hypotension, Hypohidrosis, Anisocoria, Hyperkeratosis, Adrenal insufficiency, High an...	OMIM:615510
Phace Syndrome	Cataract, Sclerocornea, Hypothyroidism, Lens coloboma, Abnormality of the orbital region, Retinal...	ORPHA:42775
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Corneal opacity, Poor wound healing, Abnormality of the spleen,...	ORPHA:2072
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Pulmonary arterial hypertension, Epicanthus, Chalazion	OMIM:613355
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Apolipoprotein A-I Deficiency	Xanthelasma, Angina pectoris, Opacification of the corneal stroma	ORPHA:425
Xeroderma Pigmentosum, Complementation Group C	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectropion	OMIM:278720
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ...	ORPHA:542306
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Orthostatic hypotension, Decreased circulating cortisol level, Pituitary aden...	ORPHA:199299
Xeroderma Pigmentosum, Complementation Group A	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectropion	OMIM:278700
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Myocardial infarction, Osteoarthritis, Intracranial hemorrha...	ORPHA:740
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Conjunctival icterus, Necrotizing enterocolitis, Pallor	OMIM:606812
Lcat Deficiency	Corneal opacity	ORPHA:650
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Vaginal hydrocele, Developmental...	ORPHA:2119
Igg4-Related Ophthalmic Disease	Sinusitis, Palpebral edema, Cholangitis, Abnormal morphology of bony orbit of skull, Abnormal eye...	ORPHA:449563
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Long eyebrows, Widow's peak, Long eyelashes, Small nail, S-shaped palpebral fissure...	OMIM:201180
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Transient ischemic attack, Abnormality of thyroid physiology, Minimal change glo...	ORPHA:1830
Singleton-Merten Syndrome 2	Hyperkeratosis, Arrhythmia, Psoriasiform lesion, Aortic valve stenosis	OMIM:616298
Autoimmune Lymphoproliferative Syndrome, Type Iii	Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, S...	OMIM:615559
Dyssegmental Dysplasia, Silverman-Handmaker Type	Cryptorchidism, Pterygium, Cataract	OMIM:224410
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Skin ulcer, Recurrent sinusiti...	ORPHA:217390
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Corneal opacity, Pneumonia, Splenomegaly, Cardiomyopathy, Mitral regurgi...	OMIM:253200
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Entropion, Myocardial infarction, Acantholysis, Sudden cardiac death...	ORPHA:36426
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:86893
Polyarteritis Nodosa	Pericarditis, Cutis marmorata, Raynaud phenomenon, Erythema, Skin ulcer, Cardiomyopathy, Hyperten...	ORPHA:767
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Splenomegaly, Jaundice, Loss of eyelashes, Corneal scarring, Conjunctiv...	OMIM:263700
Mucopolysaccharidosis Type 7	Splenomegaly, Corneal opacity, Hepatitis	ORPHA:584
Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Prominent scalp veins, Agenesis of pineal gland, Corneal opacity, Cryptorchidi...	ORPHA:536471
Mucolipidosis Iii Gamma	Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma	OMIM:252605
Short Stature, Developmental Delay, And Congenital Heart Defects	Uveitis, Developmental cataract	OMIM:617044
Chronic Graft Versus Host Disease	Alopecia, Fasciitis, Poor wound healing, Urinary bladder inflammation, Erythema, Xerostomia, Bron...	ORPHA:99921
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Corneal opacity, Abnormal nasolacrimal system morphology, Sclerocornea, ...	ORPHA:2556
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Cogan Syndrome	Episcleritis, Aortic regurgitation, Keratitis, Vasculitis, Uveitis, Large vessel vasculitis, Scle...	ORPHA:1467
Pancreatic Agenesis 1	Pancreatic hypoplasia, Reduced C-peptide level, Pancreatic aplasia, Exocrine pancreatic insuffici...	OMIM:260370
Al-Gazali Syndrome	Recurrent pneumonia, Corneal opacity, Sclerocornea	OMIM:609465
Acitretin/Etretinate Embryopathy	Epicanthus, Antecubital pterygium, Hypoplasia of the thymus, Third degree atrioventricular block,...	ORPHA:40366
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Roifman Syndrome	Noncompaction cardiomyopathy, Splenomegaly, Prominent eyelashes, Lymphadenopathy, Long palpebral ...	OMIM:616651
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Cataract, Corneal opacity, Pneumonia, Highly arched eyebrow, Hepatosplenome...	ORPHA:309282
Neu-Laxova Syndrome	Cataract, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash m...	ORPHA:2671
Autosomal Recessive Multiple Pterygium Syndrome	Epicanthus, Telecanthus, Multiple pterygia, Abnormal eyelid morphology, Cryptorchidism, Antecubit...	ORPHA:2990
Septo-Optic Dysplasia Spectrum	Cryptorchidism, Dry skin, Anterior pituitary hypoplasia, Hypohidrosis	ORPHA:3157
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Pyoderma gangrenosum, Sterile arthritis, Hepatosplenomegaly, Arthritis, Colitis, Cystic acne	OMIM:604416
Congenital Muscular Dystrophy With Cerebellar Involvement	Cardiomyopathy, Megalocornea, Cataract, Abnormality iris morphology	ORPHA:370959
Transketolase Deficiency	Cataract, Conjunctivitis, Uveitis, Seborrheic dermatitis	ORPHA:488618
Beta-Thalassemia Major	Hypoparathyroidism, Hypopituitarism, Hypersplenism, High-output congestive heart failure, Jaundic...	ORPHA:231214
Rhabdoid Tumor	Hematuria, Hypertension, Internal hemorrhage, Lymphadenopathy	ORPHA:69077
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Parkes Weber Syndrome	Prominent superficial blood vessels, Subarachnoid hemorrhage, High-output congestive heart failur...	ORPHA:90307
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Hypertrophic cardiomyopathy, Conjunctival hyperemia, Highly arched eyebrow	OMIM:619121
Atypical Werner Syndrome	Abnormal hair whorl, Premature graying of hair, Alopecia, Prematurely aged appearance, Lack of sk...	ORPHA:79474
Leishmaniasis	Splenomegaly, Skin ulcer, Lymphadenopathy, Rhinitis, Pallor	ORPHA:507
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Hypohidrosis, Premature grayi...	ORPHA:163746
Axial Mesodermal Dysplasia Spectrum	Limbal dermoid, Abnormality of the spleen	ORPHA:1834
Exudative Vitreoretinopathy 1	Vitreous hemorrhage, Retinal neovascularization	OMIM:133780
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Neurocardiofaciodigital Syndrome	Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure, Sparse hair	OMIM:619869
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Small nail, Short palpebral fissure	OMIM:608670
Caroli Disease	Cholangitis, Portal hypertension, Conjunctival icterus, Jaundice, Splenomegaly, Cholelithiasis	ORPHA:53035
Hallermann-Streiff Syndrome	Alopecia, Telecanthus, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Congestive ...	ORPHA:2108
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Renal insufficiency, Proteinuria, Congestive heart failure, Nocturia...	ORPHA:85450
Menkes Disease	Gastrointestinal hemorrhage, Hypopigmentation of hair, Osteomyelitis, Intracranial hemorrhage, Sp...	ORPHA:565
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, White eyelashes, White eyebrow, Cryptorchidism, Hypohidrosis, White forelock, Hetero...	OMIM:609136
Pseudo-Torch Syndrome 1	Cataract, Splenomegaly, Jaundice, Opacification of the corneal stroma, Petechiae	OMIM:251290
Kawasaki Disease	Abnormality of nail color, Pericarditis, Skin rash, Myocarditis, Congestive heart failure, Vascul...	ORPHA:2331
Coloboma, Ocular, Autosomal Dominant	Corneal opacity, Chorioretinal coloboma, Peters anomaly	OMIM:120200
Dyssegmental Dysplasia, Silverman-Handmaker Type	Cryptorchidism, Pterygium, Hirsutism, Developmental cataract	ORPHA:1865
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Nail dystrophy, Epiphora	OMIM:616353
Acute Adrenal Insufficiency	Orthostatic hypotension, Decreased circulating cortisol level, Myocardial infarction, Sparse axil...	ORPHA:95409
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Iris coloboma, Sclerocornea	ORPHA:77298
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Hyperparathyroidism, Cataract, Corneal opacity, Chorioretinal dysplasia, Crypt...	ORPHA:534
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Nephritis, Nail dystrophy, Lacrimal duct stenosis	OMIM:609057
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Congestive heart failure, Microspherophaki...	OMIM:608328
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Carpenter Syndrome	Cryptorchidism, Abnormal cornea morphology, Polysplenia	ORPHA:65759
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal bleeding, Abnormal circulating albumin conce...	ORPHA:86839
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Conjunctival whitish salt-like deposits	OMIM:211900
Multiple Sulfatase Deficiency	Splenomegaly, Corneal opacity	OMIM:272200
De Sanctis-Cacchione Syndrome	Parakeratosis, Entropion, Keratitis, Bilateral cryptorchidism, Telangiectasia, Conjunctivitis, Cu...	OMIM:278800
Cockayne Syndrome Type 1	Cataract, Tremor, Cryptorchidism, Hypohidrosis, Conjunctivitis, Decreased lacrimation	ORPHA:90321
Ollier Disease	Lymphangioma, Skin ulcer	ORPHA:296
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation	ORPHA:54
Isolated Thyroid-Stimulating Hormone Deficiency	Reduced radioactive iodine uptake, Decreased circulating T4 concentration, Pituitary hypothyroidi...	ORPHA:90674
Neonatal Marfan Syndrome	Iridodonesis, Tricuspid regurgitation, Ectopia lentis, Heart murmur, Cutis laxa, Mitral regurgita...	ORPHA:284979
Hamamy Syndrome	Hypoparathyroidism, Telecanthus, Sparse eyelashes, Prolonged QRS complex, Blepharophimosis, Spars...	OMIM:611174
Revesz Syndrome	Leukocoria, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Megalocornea, Ridged fingernail	OMIM:268130
Vitreoretinochoroidopathy	Vitreous hemorrhage, Retinal neovascularization	OMIM:193220
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity, Hirsutism	OMIM:259600
Addison Disease	Hypoparathyroidism, Orthostatic hypotension, Primary testicular failure, Decreased circulating co...	ORPHA:85138
Neurofibromatosis Type 1	Abnormal hair quantity, Cataract, Corneal opacity, Abnormal eyelid morphology, Cryptorchidism, Hy...	ORPHA:636
Acquired Hypertrichosis Lanuginosa	Abnormal eyelid morphology, Abnormal eyebrow morphology, Lymphadenopathy	ORPHA:2221
Chronic Mucocutaneous Candidiasis	Abnormal fingernail morphology, Skin rash, Erythema, Broad nail, Skin ulcer, Hepatitis, Cheilitis...	ORPHA:1334
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy	OMIM:615513
Atelis Syndrome 2	Epicanthus, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenosis, Dacryocystoce...	OMIM:620185
Bruck Syndrome 1	Pterygium	OMIM:259450
Biotinidase Deficiency	Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunctivitis	OMIM:253260
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi, Livedo reticularis	OMIM:611788
Alzahrani-Kuwahara Syndrome	Dry skin, Eczema, Astigmatism, Cataract	OMIM:619268
Noonan Syndrome 1	Epicanthus, Cryptorchidism, Synovitis, Low posterior hairline, Pulmonic stenosis, Woolly hair, Hy...	OMIM:163950
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Caroli Syndrome	Cholangitis, Portal hypertension, Hematemesis, Conjunctival icterus, Jaundice, Hypersplenism, Mel...	ORPHA:480520
Familial Exudative Vitreoretinopathy	Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization	ORPHA:891
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Lymphadenopathy, Fluctuating splenomegaly	OMIM:619220
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Premature graying of hair, Lacrimal ...	OMIM:613266
Carpenter Syndrome 1	Telecanthus, Epicanthus, Cryptorchidism, Microcornea, Pulmonic stenosis, Opacification of the cor...	OMIM:201000
Infantile Myofibromatosis	Abnormal hair morphology, Neoplasm of the pancreas, Skin ulcer	ORPHA:2591
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Orthostatic hypotension, Anhidrosis, Hypohidrosis, Ptosis	OMIM:146500
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis, Lymphadenopathy, Recurre...	OMIM:150550
Autosomal Recessive Omodysplasia	Cryptorchidism, Pterygium	ORPHA:93329
Pgm3-Cdg	Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Recurrent ski...	ORPHA:443811
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Antecubital pterygium	OMIM:618469
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Bruck Syndrome	Pterygium	ORPHA:2771
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus, Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Frontofacionasal Dysplasia	Telecanthus, Cataract, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped palpebral fissures...	OMIM:229400
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Abnormal pupil morphology, Arrhythmia, Hyperhidrosis	ORPHA:2151
Silver-Russell Syndrome 3	Unilateral cryptorchidism, Antecubital pterygium	OMIM:616489
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Pulmonary embolism, Subcutaneous hemorrhage, Skin ulcer, Purpura	ORPHA:743
Immunoglobulin A Vasculitis	Episcleritis, Gastrointestinal hemorrhage, Skin rash, Pustule, Orchitis, Angioedema, Erythema, Va...	ORPHA:761
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	OMIM:300853
Jacobsen Syndrome	Epicanthus, Telecanthus, Abnormal eyelash morphology, Cryptorchidism, Nasolacrimal duct obstructi...	OMIM:147791
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Periorbital dermoid cyst, Conjunctivitis, Alacrima, Lacrimal duct stenosis	OMIM:615560
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Roifman Syndrome	Noncompaction cardiomyopathy, Prominent eyelashes, Lymphadenopathy, Hepatosplenomegaly, Long palp...	ORPHA:353298
Trichinellosis	Skin rash, Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjunctivitis, Abno...	ORPHA:863
Bruck Syndrome 2	Pterygium	OMIM:609220
Retinal Arteries, Tortuosity Of	Retinal hemorrhage	OMIM:180000
Idiopathic Aplastic Anemia	Epistaxis, Retinal hemorrhage, Bone marrow hypocellularity, Gingival bleeding, Ecchymosis	ORPHA:88
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma	OMIM:253010
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Epicanthus, Cataract, Corneal opacity, Hypothyroidism, Downslanted palpebra...	ORPHA:1052
Uveal Melanoma	Vitreous hemorrhage	ORPHA:39044
Stromme Syndrome	Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tortuosit...	OMIM:243605
Systemic Sclerosis	Pericarditis, Alopecia, Osteomyelitis, Nail bed telangiectasia, Glomerulonephritis, Recurrent ski...	ORPHA:90291
Immunodeficiency 64 With Lymphoproliferation	Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen...	OMIM:618534
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Schimke Immunoosseous Dysplasia	Transient ischemic attack, Bilateral cryptorchidism, Fine hair, Hypertension, Coarse hair, Astigm...	OMIM:242900
Phaver Syndrome	Epicanthus, Pterygium, Downslanted palpebral fissures	ORPHA:2876
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Epicanthus, Cataract, Tricuspid regurgitation, Palpebral edema, Brushfield ...	OMIM:614866
Pleural Mesothelioma	Abnormal cardiovascular system physiology, Lymphadenopathy	ORPHA:50251
Peroxisome Biogenesis Disorder 1A (Zellweger)	Epicanthus, Redundant neck skin, Cataract, Brushfield spots, Cryptorchidism, Upslanted palpebral ...	OMIM:214100
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Erythema, Epidermal acanthosis	ORPHA:83453
Immunodeficiency 76	Splenomegaly, Lymphadenopathy	OMIM:619164
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch...	ORPHA:64744
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Corneal opacity, Eczema, Anterior pituitary hypoplasia, Cryptorchidism, Ast...	ORPHA:464306
Alpha-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100025
Crouzon Syndrome	Keratitis, Conjunctivitis, Dysgerminoma, Shallow orbits	OMIM:123500
Acute Promyelocytic Leukemia	Abnormal bleeding, Epistaxis, Diffuse alveolar hemorrhage, Lymphadenopathy, Hematuria, Oral cavit...	ORPHA:520
Mucopolysaccharidosis Type 6	Chronic otitis media, Splenomegaly, Sinusitis, Opacification of the corneal stroma	ORPHA:583
Alg11-Cdg	Dry skin	ORPHA:280071
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splen...	OMIM:603909
Lathosterolosis	Epicanthus, Cataract, Microcornea, Opacification of the corneal stroma, Downslanted palpebral fis...	ORPHA:46059
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, Annular pan...	OMIM:615710
Fraser Syndrome 1	Absent eyebrow, Corneal opacity, Absent eyelashes, Cryptorchidism, Extension of hair growth on te...	OMIM:219000
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Bilateral ptosis, Nail dystrophy, Decreased testicular size, Epiphora	OMIM:620040
Larsen Syndrome	Cryptorchidism, Corneal opacity, Short nail, Shallow orbits	OMIM:150250
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating cortisol level, Anisocoria, Adrenocorticotropin receptor defect, Adrenal in...	OMIM:231550
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonyc...	ORPHA:79151
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Impaired myocardial contractility, Absent toenail...	ORPHA:158687
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Immunodeficiency 52	Splenomegaly, Lymphadenopathy	OMIM:617514
Fetal Akinesia Deformation Sequence	Cryptorchidism, Pterygium	ORPHA:994
Craniofrontonasal Syndrome	Ridged nail, Curly hair, Split nail, Telecanthus, Cryptorchidism, Widow's peak, Low posterior hai...	OMIM:304110
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti...	OMIM:307200
Congenital Disorder Of Deglycosylation 1	Anhidrosis, Corneal opacity, Hyperhidrosis, Corneal ulceration, Ptosis	OMIM:615273
Beta-Thalassemia Intermedia	Hypoparathyroidism, High-output congestive heart failure, Jaundice, Splenomegaly, Hypothyroidism,...	ORPHA:231222
Hypercholesterolemia, Familial, 3	Xanthelasma, Corneal arcus	OMIM:603776
Schnitzler Syndrome	Splenomegaly, Vasculitis, Lymphadenopathy	ORPHA:37748
Generalized Eruptive Histiocytosis	Lymphadenopathy	ORPHA:157991
Multiple Pterygium Syndrome, Escobar Variant	Epicanthus, Bilateral ptosis, Cryptorchidism, Neck pterygia, Antecubital pterygium, Popliteal pte...	OMIM:265000
Helix Syndrome	Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis, Dry skin	OMIM:617671
Wolf-Hirschhorn Syndrome	Ptosis, Epicanthus, Highly arched eyebrow, Sclerocornea, Cryptorchidism, Low posterior hairline, ...	ORPHA:280
Mosaic Trisomy 8	Cryptorchidism, Corneal opacity, Decreased testicular size	ORPHA:96061
Localized Scleroderma	Abnormal skin adnexa morphology, Fasciitis, Raynaud phenomenon, Erythema, Vasculitis, Uveitis, Ar...	ORPHA:90289
Multiple Pterygium Syndrome, X-Linked	Epicanthus, Multiple pterygia	OMIM:312150
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Splenomegaly, Lymphadenopathy, Intracranial hemorrhage, Bone marrow hypo...	ORPHA:3226
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation o...	ORPHA:29207
Catastrophic Antiphospholipid Syndrome	Cutis marmorata, Angina pectoris, Myocardial infarction, Pulmonary embolism, Transient ischemic a...	ORPHA:464343
Hereditary Spherocytosis	Maculopapular exanthema, Splenomegaly, Jaundice, Gout, Skin ulcer, Pallor, Restrictive cardiomyop...	ORPHA:822
Juvenile Glaucoma	Retinal arterial occlusion, Retinal vein occlusion, Abnormal anterior chamber morphology, Abnorma...	ORPHA:98977
Hypercholesterolemia, Familial, 1	Xanthelasma, Corneal arcus	OMIM:143890
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Eczema, Portal hypertension, Cutis marmorata, Erythema nodosum, Raynaud phenomenon, Sp...	OMIM:615688
Neuroocular Syndrome	Brittle hair, Synophrys, Lens coloboma, Microcornea, Hooded upper eyelid, Iris coloboma, Highly a...	OMIM:619539
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Retinoblastoma	Vitreous hemorrhage, Hyphema, Pineoblastoma, Subretinal pigment epithelium hemorrhage	ORPHA:790
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Anhidrosis, Osteomyelitis, Skin ulcer	OMIM:613640
Autosomal Dominant Popliteal Pterygium Syndrome	Cryptorchidism, Ankyloblepharon, Popliteal pterygium, Abnormality of the nail, Generalized hirsutism	ORPHA:1300
Autoimmune Polyendocrinopathy Type 4	Alopecia, Atrophic gastritis, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucocutaneous candidi...	ORPHA:227990
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Epicanthus, Brittle hair, Palpebral edema, Sparse eyebrow, Congestive heart...	OMIM:252500
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Mitral regurgitation, Downslanted palpebral fissures, Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:613101
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis, Panniculitis, Conjuncti...	OMIM:617591
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Epicanthus, Aplasia of the thymus, Decreased response to growth hormone stimu...	OMIM:618223
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Lig4 Syndrome	Epicanthus, Hypoplasia of penis, Telangiectasia of the skin, Telecanthus, Lymphadenopathy, Upslan...	ORPHA:99812
Livedoid Vasculopathy	Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Cutis marmora...	ORPHA:542643
Pelvis-Shoulder Dysplasia	Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Ectodermal Dysplasia/Short Stature Syndrome	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia	OMIM:616029
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Congestive heart failure, Splenomega...	ORPHA:33226
Hyperostosis Cranialis Interna	Epiphora	OMIM:144755
Isolated Ectopia Lentis	Hypertension, Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Autoimmune Polyendocrinopathy Type 3	Alopecia, Atrophic gastritis, Autoimmune hypoparathyroidism, Iridocyclitis, Xerostomia, Hepatitis...	ORPHA:227982
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas	ORPHA:1203
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Stuve-Wiedemann Syndrome 1	Hyperhidrosis, Opacification of the corneal stroma, Sparse hair, Pulmonary arterial hypertension,...	OMIM:601559
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Xerostomia, Skin ulcer, Arthritis, Pulmonar...	ORPHA:220393
Uremic Pruritus	Inflammatory abnormality of the skin, Dry skin, Recurrent skin infections, Generalized abnormalit...	ORPHA:94059
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Sparse axillary hair, Progeroid facial appearance, Erythema nodosum, Congestive hea...	OMIM:256040
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria, Alacrima	ORPHA:289483
Fryns Syndrome	Cryptorchidism, Corneal opacity, Hypoplastic fingernail	ORPHA:2059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Cryptorchidism, Buphthalmos, Peters anomaly, Megalocornea	OMIM:236670
Chronic Granulomatous Disease	Sinusitis, Eczema, Mediastinal lymphadenopathy, Splenomegaly, Skin ulcer, Otitis media, Cutaneous...	ORPHA:379
Immunodeficiency 27A	Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly	OMIM:209950
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Myocarditis, Nephropathy, Med...	ORPHA:809
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Prematurely aged appearance, Dry skin, Urticaria, Cutaneous photosensitivity	ORPHA:220295
Nocardiosis	Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Dacryocystitis, Th...	ORPHA:31204
Hypercholesterolemia, Familial, 2	Xanthelasma, Corneal arcus	OMIM:144010
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Junctional Epidermolysis Bullosa With Pyloric Atresia	Recurrent skin infections, Urinary bladder inflammation, Nail dystrophy, Pterygium, Ectropion	ORPHA:79403
Immunodeficiency 91 And Hyperinflammation	Renal insufficiency, Membranoproliferative glomerulonephritis, Hemolytic-uremic syndrome, Hepatos...	OMIM:619644
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Hypertension, Xanthelasma, Hyper...	OMIM:232220
Multiple Pterygium Syndrome, Lethal Type	Epicanthus, Multiple pterygia	OMIM:253290
Knobloch Syndrome 1	Attenuation of retinal blood vessels, Epicanthus, Telecanthus, Band keratopathy, Chorioretinal at...	OMIM:267750
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Follicular hyperplasia	OMIM:619846
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Alacrima, Episodic hyperhidrosis, Corneal ulceration, Recurrent corneal erosions	OMIM:223900
Nail-Patella Syndrome	Toenail dysplasia, Abnormal iris pigmentation, Primary congenital glaucoma, Antecubital pterygium...	ORPHA:2614
Miller Fisher Syndrome	Anisocoria, Ptosis, Mydriasis	ORPHA:98919
Boutonneuse Fever	Renal insufficiency, Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Petechiae	ORPHA:83313
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Angiokeratoma ...	ORPHA:79280
Acquired Purpura Fulminans	Shock, Skin rash, Pyoderma gangrenosum, Intracranial hemorrhage, Macular purpura, Acrocyanosis, I...	ORPHA:49566
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Bronchiectasis, Abnormal cornea morphology, Chronic rhinitis, Chronic otitis...	OMIM:244400
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Sparse hair, Hyperthyroidism, L...	ORPHA:3455
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab...	ORPHA:2968
Infantile Systemic Hyalinosis	Telangiectasia of the skin, Skin ulcer, Polycystic ovaries, Urticaria, Aplasia/Hypoplasia of the ...	ORPHA:2176
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R...	OMIM:192315
Pyoderma Gangrenosum	Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Rheumatoid arthritis, Skin ve...	ORPHA:48104
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Hypertension, Hyp...	OMIM:210710
Galloway-Mowat Syndrome 1	Epicanthus, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Small nail, Pt...	OMIM:251300
Calciphylaxis	Cutis marmorata, Skin ulcer, Secondary hyperparathyroidism	ORPHA:280062
Congenital Fibrosis Of Extraocular Muscles	Cataract, Levator palpebrae superioris atrophy, Anisocoria, Congenital fibrosis of extraocular mu...	ORPHA:45358
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Telecanthus, Recurrent pneumonia, Developmental cataract, Lymphangioma, Dry skin, Downslanted pal...	ORPHA:99646
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Opacification of the corneal stroma	OMIM:313400
Tumoral Calcinosis, Normophosphatemic, Familial	Conjunctivitis	OMIM:610455
Cinca Syndrome	Retrobulbar optic neuritis, Splenomegaly, Uveitis, Lymphadenopathy, Urticaria, Inflammatory abnor...	ORPHA:1451
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage	OMIM:264420
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum, Dilated cardiomyopathy, Panniculitis, Cystic acne, Small vessel v...	OMIM:608068
Camptodactyly Syndrome, Guadalajara Type 3	Telecanthus, Symblepharon, Thick eyebrow	ORPHA:488434
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Episodic hyperhidrosis, Osteomyelitis, Acral ulceration	OMIM:613115
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Telecanthus, Astigmatism, Hooded upper eyelid, Alacrima, Ptosis	OMIM:618548
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce...	ORPHA:90186
Nephroblastoma	Hematuria, Hypertension, Lymphadenopathy	ORPHA:654
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Popliteal pterygium, Downslanted palpebral fissures	OMIM:119800
Vascular Ehlers-Danlos Syndrome	Redundant skin, Osteoarthritis, Abnormal pupil morphology, Periodontitis, Internal hemorrhage, Ke...	ORPHA:286
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Seborrheic dermatitis, Pancreatic cysts, Hepatosplenomegaly, Ptosis	OMIM:274000
Primary Myelofibrosis	Abnormal bleeding, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Ecchym...	ORPHA:824
Scrub Typhus	Abnormal bleeding, Renal insufficiency, Myocarditis, Splenomegaly, Lymphadenopathy, Hypotension	ORPHA:83317
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Hereditary Chronic Pancreatitis	Jaundice, Recurrent pancreatitis, Pancreatic calcification, Elevated circulating C-reactive prote...	ORPHA:676
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Cataract, Decreased response to growth hormone stimulation test, Pseudohyp...	ORPHA:94089
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Mosaic Trisomy 1	Hypoplastic thumbnail, Congenital bilateral ptosis, Opacification of the corneal stroma, Small na...	ORPHA:1692
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Alacrima	OMIM:240000
Antiphospholipid Syndrome, Familial	Keratitis, Central retinal artery occlusion, Scleritis, Retinal vasculitis, Iritis	OMIM:107320
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Epicanthus, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Heart murmur, Anisocoria...	OMIM:618653
Immunodeficiency 55	Dry skin, Recurrent skin infections, Eczema, Lymphadenopathy	OMIM:617827
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Pterygium	OMIM:225790
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy	OMIM:212050
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Multiple pterygia, Antecubital pterygium, Popliteal pterygium, Downslanted palpebral fissures, Pt...	OMIM:178110
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Epidermal acanthosis, Patchy palmoplantar hyperkeratosis, Erythroderma	OMIM:133200
Lathosterolosis	Epicanthus, Cataract, Bilobate gallbladder, Hepatosplenomegaly, Opacification of the corneal stro...	OMIM:607330
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Arrhythmia, Skin ulcer, Pulmonary embolism	ORPHA:624
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Lymphadenitis, Dilated cardiomyopathy, Splenomegaly, Lymphadenopathy, H...	OMIM:615895
Macular Degeneration, Age-Related, 1	Macular hemorrhage	OMIM:603075
Cone-Rod Dystrophy 10	Epiphora	OMIM:610283
Cockayne Syndrome	Anhidrosis, Dry hair, Cataract, Band keratopathy, Action tremor, Cryptorchidism, Developmental ca...	ORPHA:191
Van Den Ende-Gupta Syndrome	Blepharophimosis, Abnormal eyebrow morphology, Sclerocornea	OMIM:600920
Griscelli Syndrome	Abnormal eyebrow morphology, Abnormal eyelash morphology, Splenomegaly, Lymphadenopathy, Bone mar...	ORPHA:381
Lassa Fever	Shock, Jaundice, Conjunctivitis	ORPHA:99824
Activated Pi3K-Delta Syndrome	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	ORPHA:397596
Squamous Cell Carcinoma Of The Anal Canal	Intestinal bleeding, Lymphadenopathy	ORPHA:424019
Cushing Disease	Plethora, Sparse scalp hair, Adrenal hyperplasia, Acne, Dorsocervical fat pad, Myocardial infarct...	ORPHA:96253
Martinez-Frias Syndrome	Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal...	OMIM:601346
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Corneal opacity, Cryptorchidism, Astigmatism, Posterior pituitary hypoplasi...	ORPHA:464311
Pancreatitis, Hereditary	Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency	OMIM:167800
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Hypothyroidism, Congenital, Nongoitrous, 2	Congenital hypothyroidism, Bradycardia, Ectopic thyroid, Decreased circulating T4 concentration, ...	OMIM:218700
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Erythema, Epidermal acanthosis	OMIM:613943
Dyggve-Melchior-Clausen Disease	Corneal opacity	ORPHA:239
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Epicanthus, Tricuspid regurgitation, Telecanthus, Thick hair, Tachycardia, Congestive heart failu...	ORPHA:505248
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Cataract, Epicanthus, Cutis marmorata, Sclerocornea, Abnormal eyelash m...	ORPHA:818
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy	OMIM:618987
Carcinoid Syndrome	Epiphora	ORPHA:100093
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
American Trypanosomiasis	Myocarditis, Congestive heart failure, Splenomegaly, Lymphadenopathy, Cardiomyopathy, Arrhythmia	ORPHA:3386
Late-Onset Retinal Degeneration	Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin...	ORPHA:67042
Mucopolysaccharidosis Type 2, Severe Form	Corneal opacity, Splenomegaly, Enlarged tonsils, Heart murmur, Hepatosplenomegaly, Arthritis, Hyp...	ORPHA:217085
Congenital Toxoplasmosis	Lymphadenopathy	ORPHA:858
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Decreased response to growth hormone stimulation test, Polycoria, Microcornea, Hy...	OMIM:180500
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Allergic rhinitis, Erythroderma, Cuta...	ORPHA:330064
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo...	ORPHA:103918
Cold Agglutinin Disease	Splenomegaly, Abnormal urinary color, Lymphadenopathy	ORPHA:56425
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis, Epidermal acanthosis	ORPHA:199267
Mucopolysaccharidosis Type 2, Attenuated Form	Corneal opacity, Splenomegaly, Enlarged tonsils, Heart murmur, Hepatosplenomegaly, Arthritis, Hyp...	ORPHA:217093
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Epidermal acanthosis, Abnormal epidermal morphology, Palmoplantar hype...	ORPHA:79501
Meckel Syndrome	Accessory spleen, Cataract, Pancreatic fibrosis, Abnormal chorioretinal morphology, Sclerocornea,...	ORPHA:564
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash,...	ORPHA:900
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Lymphadenopathy	OMIM:611762
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Glomerulonephritis, Lymphadenopathy	OMIM:619375
Griscelli Syndrome Type 2	Splenomegaly, Petechiae, Lymphadenopathy	ORPHA:79477
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cryptorchidism, He...	OMIM:130050
Pancreas, Annular	Annular pancreas	OMIM:167750
Annular Pancreas	Annular pancreas	ORPHA:675
Digeorge Syndrome	Acne, Parathyroid agenesis, Sclerocornea, Seborrheic dermatitis, Blepharophimosis, Splenomegaly, ...	OMIM:188400
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail	OMIM:181600
Cone-Rod Dystrophy 8	Epiphora	OMIM:605549
Peters Plus Syndrome	Cataract, Corneal opacity, Cryptorchidism, Congenital hypothyroidism, Microcornea, Upslanted palp...	ORPHA:709
Immunodeficiency 105	Hepatosplenomegaly, Absence of lymph node germinal center	OMIM:619924
Familial Keratoacanthoma	Hyperkeratosis, Adenoma sebaceum, Skin ulcer	ORPHA:493
Meckel Syndrome 12	Antecubital pterygium	OMIM:616258
Lacrimoauriculodentodigital Syndrome 1	Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Absence of Stensen duct, Hypopla...	OMIM:149730
White Sponge Nevus 2	Hyperparakeratosis, Epidermal acanthosis	OMIM:615785
Classic Hodgkin Lymphoma	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Camptodactyly Syndrome, Guadalajara, Type Iii	Telecanthus, Symblepharon	OMIM:611929
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Opacification of the corneal stroma, Hyperopic astigmatism	OMIM:252600
Yunis-Varon Syndrome	Sparse scalp hair, Redundant neck skin, Sparse eyelashes, Cataract, Sclerocornea, Sparse eyebrow,...	ORPHA:3472
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Skin ulcer, Hepatosplenomegaly	ORPHA:86884
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratotic papule, Palmar ...	ORPHA:38
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Dilated cardiomyopathy, Py...	ORPHA:3243
Bloom Syndrome	Sparse eyelashes, Pneumonia, Skin rash, Paronychia, Recurrent tonsillitis, Cheilitis, Uveitis, Te...	ORPHA:125
Lymphoproliferative Syndrome 2	Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Lymphadenopathy, Hepatosplenomegaly	OMIM:615122
Biotinidase Deficiency	Skin rash, Alopecia, Eczematoid dermatitis, Conjunctivitis	ORPHA:79241
Autosomal Dominant Severe Congenital Neutropenia	Recurrent skin infections, Pneumonia, Pyoderma gangrenosum, Rhinitis, Periodontitis, Recurrent ap...	ORPHA:486
Williams Syndrome	Redundant skin, Myocardial infarction, Hypoplastic toenails, Chronic otitis media, Megalocornea, ...	ORPHA:904
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cataract, Tremor, Athetosis, Dystonia, Alacrima	OMIM:615356
Trisomy 8P	Cryptorchidism, Low posterior hairline, Upslanted palpebral fissure, Astigmatism, Aplasia/Hypopla...	ORPHA:264450
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Nephrotic syndrome, Hepatosplenom...	ORPHA:911
Cinca Syndrome	Skin rash, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis	OMIM:607115
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Epidermal acanthosis, Erythroderma	OMIM:615022
Oculotrichoanal Syndrome	Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction, Abnormal hair pattern	ORPHA:2717
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Lymphadenopathy, Hemat...	ORPHA:549
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Castleman Disease	Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenop...	ORPHA:160
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Iridocyclitis, Mediastinal lymphadenopathy, Splenomegaly, Enlarged l...	OMIM:181000
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Lymphadenopathy, Hepatosplenomeg...	ORPHA:98850
Bone Marrow Failure Syndrome 3	Epicanthus, Pancreatic steatosis, Cryptorchidism, Hyperechogenic pancreas, Downslanted palpebral ...	OMIM:617052
Plasminogen Deficiency, Type I	Nephritis, Conjunctivitis, Periodontitis	OMIM:217090
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Epicanthus, Pancreatic fibrosis, Upslanted palpebral fissure, Hepatic fibrosis, Pol...	OMIM:200995
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Ulnar Hemimelia	Osteoarthritis, Antecubital pterygium	ORPHA:93320
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Abnormal epidermal morphology	ORPHA:398189
Charge Syndrome	Epicanthus, Lacrimation abnormality, Highly arched eyebrow, Cryptorchidism, Eyelid coloboma, Ante...	ORPHA:138
Immunodeficiency 54	Splenomegaly, Lymphadenopathy	OMIM:609981
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Junctional ectopic tachycardia, Peters anomaly, Histiocytoid cardiomyopat...	OMIM:309801
Autoimmune Lymphoproliferative Syndrome	Splenomegaly, Vasculitis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia	OMIM:601859
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Vasculitis, Lymphadenopathy, Purpura	ORPHA:343
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Lymph node...	OMIM:300755
Feingold Syndrome	Abnormality of the spleen, Annular pancreas, Short palpebral fissure	ORPHA:1305
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux	Alacrima	OMIM:608088
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Epicanthus, Increased circulating thyroglobulin level, Portal hypertension, Pancrea...	OMIM:610199
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Lymphadenopathy	OMIM:618495
Whipple Disease	Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction, Myocarditis, Mediasti...	ORPHA:3452
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:199241
Cutis Marmorata Telangiectatica Congenita	Hypertension, Cutis marmorata, Leukocoria, Telangiectasia	OMIM:219250
Fryns Syndrome	Ectopic pancreatic tissue, Blepharophimosis, Cryptorchidism, Narrow palpebral fissure, Opacificat...	OMIM:229850
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Telecanthus, Hypospadias, Urinary incontinence, Highly arched eyebr...	ORPHA:261552
Sarcoidosis, Susceptibility To, 2	Erythema nodosum, Mediastinal lymphadenopathy, Splenomegaly, Bronchiectasis, Uveitis, Pulmonary a...	OMIM:612387
Johanson-Blizzard Syndrome	Sparse scalp hair, Absent lacrimal punctum, Portal hypertension, Conjunctival icterus, Cryptorchi...	OMIM:243800
Tibial Aplasia-Ectrodactyly Syndrome	Popliteal pterygium	ORPHA:3329
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly, Nephroti...	OMIM:618935
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Epicanthus, Osteoarthritis, Keratoconjunctivitis sicca, Arrhythmia, Acrocyanosis, Pt...	ORPHA:285
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy	ORPHA:98848
Wilson Disease	Hypoparathyroidism, Splenomegaly, Osteoarthritis, Atypical or prolonged hepatitis, Jaundice, Kays...	OMIM:277900
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Corneal crystals	OMIM:210370
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Melena...	ORPHA:100080
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, J...	OMIM:208500
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Cutis marmorata, Transient ischemic attack, Subarachnoid hemorrhage, Hypovo...	ORPHA:91387
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Jaundice, Osteomyelitis leading to amputation due to slow healing fractures, Corneal scarring, Ac...	OMIM:256810
Cowden Syndrome	Cataract, Generalized hyperkeratosis, Enlarged polycystic ovaries, Goiter, Palmoplantar keratoder...	ORPHA:201
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage	OMIM:177850
Mucopolysaccharidosis Type 2	Corneal opacity, Splenomegaly, Enlarged tonsils, Cardiomyopathy, Hypertension, Hip osteoarthritis...	ORPHA:580
Lymphoproliferative Syndrome, X-Linked, 1	Splenomegaly, Vasculitis, Lymphadenopathy	OMIM:308240
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Hemato...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Hemato...	ORPHA:100082
Gaucher Disease	Osteomyelitis, Corneal opacity, Splenomegaly, Osteoarthritis, Hepatitis, Pulmonary arterial hyper...	ORPHA:355
Popliteal Pterygium Syndrome	Cryptorchidism, Ankyloblepharon, Popliteal pterygium, Intercrural pterygium, Pyramidal skinfold e...	OMIM:119500
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Alacrima, Corneal scarring, Hyperhidrosis	OMIM:614653
Familial Hemophagocytic Lymphohistiocytosis	Petechiae, Splenomegaly, Lymphadenopathy, Ecchymosis, Bruising susceptibility, Abnormal renal phy...	ORPHA:540
Mucopolysaccharidosis, Type Iva	Recurrent pneumonia, Opacification of the corneal stroma	OMIM:253000
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Pearson Syndrome	Hypoparathyroidism, Hepatomegaly, Ptosis, Pancreatic fibrosis, Decreased response to growth hormo...	ORPHA:699
Deeah Syndrome	Epicanthus, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	OMIM:619004
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary bladde...	ORPHA:556
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Cataract, Decreased response to growth hormone stimulation test, Reduced c...	ORPHA:79444
Matthew-Wood Syndrome	Cryptorchidism, Annular pancreas, Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas	ORPHA:2470
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Corneal opacity, Cryptorchidism, Eyelid coloboma, Opacification of th...	OMIM:268300
Cole Disease	Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratode...	OMIM:615522
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Anhidrosis, Sinus tachycardia, ST segment depression, Hypotension, Abnorma...	ORPHA:466650
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Parakeratosis, Epidermal acanthosis, Erythema, Hyperkeratosis, Small nail, Orthokeratos...	OMIM:308050
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Epicanthus, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Eczema...	ORPHA:83617
Stüve-Wiedemann Syndrome	Lacrimation abnormality, Hypohidrosis, Hyperhidrosis, Ectopic thyroid, Hypothyroidism	ORPHA:3206
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Epidermal acanthosis, Skin rash, Pustule, Splenomegaly, Hyperkeratosis, Stomatitis	OMIM:612852
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho...	ORPHA:456312
Feingold Syndrome 1	Accessory spleen, Epicanthus, Tricuspid stenosis, Asplenia, Upslanted palpebral fissure, Narrow p...	OMIM:164280
Malt Lymphoma	Abnormal nasolacrimal system morphology, Mediastinal lymphadenopathy, Hyperhidrosis, Lymphadenopa...	ORPHA:52417
Neurooculorenal Syndrome	Iris atrophy, Ectopic posterior pituitary, Decreased circulating cortisol level, Highly arched ey...	OMIM:620305
Igg4-Related Submandibular Gland Disease	Cholangitis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas morphology, En...	ORPHA:449432
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri...	ORPHA:91139
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Epicanthus, Sparse eyelashes, Absent eyelashes, Cryptorchidism, Sparse eyebrow, T...	OMIM:268400
Cushing Syndrome Due To Ectopic Acth Secretion	Plethora, Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Pancr...	ORPHA:99889
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Lymphadenopathy, Hypertens...	ORPHA:139411
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Cataract, Decreased response to growth hormone stimulation test, Reduced c...	ORPHA:79443
Listeriosis	Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Jaundice, Congestive h...	ORPHA:533
Bohring-Opitz Syndrome	Upslanted palpebral fissure, Epicanthus, Supernumerary nipple, Hyperechogenic pancreas	OMIM:605039
Classical Ehlers-Danlos Syndrome	Epicanthus, Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Dermatochal...	ORPHA:287
Microphthalmia, Syndromic 3	Cryptorchidism, Cataract, Anterior pituitary hypoplasia, Sclerocornea	OMIM:206900
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent otitis media	OMIM:601495
Lyme Disease	Atrioventricular block, Uveitis, Arthritis, Arrhythmia, Infectious encephalitis	ORPHA:91546
Manitoba Oculotrichoanal Syndrome	Eyelid coloboma, Cryptophthalmos, Nasolacrimal duct obstruction, Abnormality of the hairline	OMIM:248450
Central Retinal Vein Occlusion	Intraretinal hemorrhage, Retinal neovascularization	ORPHA:411527
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Retinal hemorrhage, Hy...	OMIM:609049
Cutis Marmorata Telangiectatica Congenita	Telangiectasia of the skin, Cutis marmorata, Leukocoria, Hypothyroidism, Subcutaneous hemorrhage,...	ORPHA:1556
Gaucher Disease, Type Iiic	Splenomegaly, Mitral stenosis, Opacification of the corneal stroma	OMIM:231005
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal lymph node morphology	ORPHA:54251
Immunodeficiency 7	Splenomegaly, Lymphadenopathy	OMIM:615387
Brucellosis	Knee osteoarthritis, Hyperhidrosis, Infectious encephalitis, Epididymitis, Lymphadenopathy, Pneum...	ORPHA:1304
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Cryptorchidism, Long eyelashes, Short palpebral fissure, Alacrima	OMIM:619005
Osteogenesis Imperfecta	Aortic regurgitation, Corneal opacity, Cerebral hemorrhage, Osteoarthritis, Cutis laxa, Hyperhidr...	ORPHA:666
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
African Trypanosomiasis	Abnormal EKG, Alopecia, Pericarditis, Keratitis, Myocarditis, Jaundice, Congestive heart failure,...	ORPHA:3385
Neuropathy, Hereditary Sensory And Autonomic, Type V	Anhidrosis, Osteomyelitis, Osteoarthritis, Acral ulceration, Septic arthritis	OMIM:608654
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Coats Disease	Leukocoria, Retinal telangiectasia	OMIM:300216
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Yunis-Varon Syndrome	Sparse scalp hair, Epicanthus, Redundant neck skin, Absent nipple, Sparse eyelashes, Cataract, Sc...	OMIM:216340
Mowat-Wilson Syndrome	Cataract, Supernumerary nipple, Cryptorchidism, Microcornea, Ectopia pupillae, Pulmonic stenosis,...	OMIM:235730
Atelosteogenesis Type I	Telecanthus, Abnormal pancreatic duct morphology	ORPHA:1190
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Osteomyelitis, Cerebral hemorrhage, Hepatosplenomegaly, Chorioretinitis, Panuve...	OMIM:301081
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Downslanted palpebral fissures, Abnormal circulating apolipoprotein concentration, Subretinal pig...	ORPHA:357074
Niemann-Pick Disease, Type A	Splenomegaly, Lymphadenopathy	OMIM:257200
Bickerstaff Brainstem Encephalitis	Anisocoria, Ptosis, Pneumonia, Mydriasis	ORPHA:79138
H Syndrome	Abnormal eyebrow morphology, Abnormal cardiovascular system physiology, Hepatosplenomegaly, Lymph...	ORPHA:168569
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Episodic hyperhidrosis, Paronychia, Anhidrosis, Acral ulceration	OMIM:201300
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Immunodeficiency 10	Lymphadenopathy	OMIM:612783
Desmoplastic Small Round Cell Tumor	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:83469
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Cardiac arrest, Myocarditis, Lymphadenopathy, Tubulointerstitial nephritis, ...	ORPHA:139402
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Conjunctival icterus, Jaundice, Hypertension, Budd-Chi...	ORPHA:447
Kilquist Syndrome	Xerostomia, Alacrima	OMIM:619080
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia	OMIM:211890
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis	OMIM:148600
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Omodysplasia 1	Epicanthus, Cryptorchidism, Popliteal pterygium, Narrow palpebral fissure, Blepharophimosis, Axil...	OMIM:258315
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Raynaud phenomenon, Lymphadenopathy, Hematuria, Nep...	ORPHA:93552
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Recurrent skin infections, Pneumonia, Paronychia, Dilated cardiomyopathy, Fragile skin,...	ORPHA:79404
Mevalonic Aciduria	Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Downslanted palpebral fissures, El...	OMIM:610377
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Calcium nephrolithiasis, Mediastinal lymphadenopathy, Chronic noninfectio...	ORPHA:97289
Stickler Syndrome	Epicanthus, Cataract, Telecanthus, Ectopia lentis, Osteoarthritis, Uveitis, Astigmatism, Chronic ...	ORPHA:828
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis	OMIM:610227
Felty Syndrome	Splenomegaly, Pericarditis, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:47612
Melkersson-Rosenthal Syndrome	Lymphadenopathy, Oligosacchariduria	ORPHA:2483
Shwachman-Diamond Syndrome 2	Hepatomegaly, Prolonged prothrombin time, Hyperechogenic pancreas, Exocrine pancreatic insufficiency	OMIM:617941
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Lymphadenopathy, Palpitations,...	ORPHA:100078
Histiocytosis-Lymphadenopathy Plus Syndrome	Splenomegaly, Cervical lymphadenopathy, Hepatosplenomegaly, Lymphadenopathy, Pulmonic stenosis, F...	OMIM:602782
Branchiooculofacial Syndrome	Ptosis, Telecanthus, Cataract, Supernumerary nipple, Cryptorchidism, Nasolacrimal duct obstructio...	OMIM:113620
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Asplenia, Aortic valve stenosis, Pulmonary arterial hypertension, Annular pan...	ORPHA:210122
Aregenerative Anemia	Abnormal bleeding, Bruising susceptibility, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:101096
Cyclic Neutropenia	Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy	ORPHA:2686
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology	ORPHA:90658
Jacobsen Syndrome	Epicanthus, Ectropion, Cryptorchidism, Eyelid coloboma, Aortic valve stenosis, Annular pancreas, ...	ORPHA:2308
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy	OMIM:618048
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Retinal hamartoma, Abnormality of the lympha...	ORPHA:538
Immunodeficiency 97 With Autoinflammation	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly	OMIM:619802
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals	OMIM:219900
Cockayne Syndrome Type 3	Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Splenomegaly, Su...	ORPHA:90324
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per...	OMIM:263200
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Recurrent otitis media, Antecubital pterygium	ORPHA:2502
Retinoblastoma	Vitreous hemorrhage, Pinealoma	OMIM:180200
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Poor wound healing, Chronic mucocutaneous candidiasis, Skin ulcer, Periodontitis	OMIM:116920
Generalized Pustular Psoriasis	Pustule, Congestive heart failure, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythr...	ORPHA:247353
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Neuroendocrine Tumor Of Stomach	Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Hemate...	ORPHA:100075
Townes-Brocks Syndrome	Cataract, Blepharophimosis, Cryptorchidism, Chorioretinal coloboma, Limbal dermoid, Hypothyroidis...	ORPHA:857
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t...	OMIM:602450
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Chronic kidney disease, Subdural hemorrhage, Retinal hemorrhage	ORPHA:25
Rift Valley Fever	Abnormal bleeding, Hematemesis, Jaundice, Retinal hemorrhage, Hepatitis, Melena, Gingival bleeding	ORPHA:319251
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Palpebral edema, Myocarditis, Cervical lymphadenopathy, Vasculitis, ...	ORPHA:50918
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Facial Spasm	Anisocoria	OMIM:134300
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Portal hypertension, Absence of lymph node germinal center, Hepatosplenomegaly, Urinary retention...	ORPHA:79124
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Palpit...	ORPHA:97287
Primary Hepatic Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy, Right ventricular failure, Heart murmur, Palpitations, Fac...	ORPHA:100085
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Aplasia/Hypoplasia of the nails	ORPHA:2714
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Epicanthus, Cryptorchidism, Upslanted palpebral fissure, Blepharophimosis, Annular pancreas, Down...	OMIM:616975
Microphthalmia, Syndromic 6	Sclerocornea, Cryptorchidism, Orbital cyst, Microcornea, Anterior hypopituitarism, Hypothyroidism	OMIM:607932
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Lymphadenitis, Abnormality of the lymphatic system, Lymphadenopa...	ORPHA:2035
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Buphthalmos, Pallor, Opacification of the corneal stroma, Megalocornea	OMIM:253280
Familial Drusen	Macular hemorrhage	ORPHA:75376
Kyphomelic Dysplasia	Pterygium	OMIM:211350
Primary Sclerosing Cholangitis	Spider hemangioma, Portal hypertension, Congestive heart failure, Jaundice, Dilated superficial a...	ORPHA:171
Oculopalatocerebral Syndrome	Leukocoria	OMIM:257910
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Epicanthus, Cryptorchidism, Antecubital pterygium, Popliteal pterygium, Aplasia/Hypoplasia of the...	OMIM:609945
Neu-Laxova Syndrome 1	Ablepharon, Cataract, Absent eyelashes, Cryptorchidism, Yellow subcutaneous tissue covered by thi...	OMIM:256520
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Tricuspid regurgitation, Mediastinal lymphadenopathy, Upslanted palpebral fissure, Pulmonary arte...	OMIM:620233
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Splenomegaly, Lymphadenopathy	OMIM:616100
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Lymphadenopathy	OMIM:619183
Q Fever	Pericarditis, Myocarditis, Splenomegaly, Vasculitis, Hepatosplenomegaly, Abnormal left ventricula...	ORPHA:781
Autoimmune Lymphoproliferative Syndrome	Gastritis, Glomerulonephritis, Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly...	ORPHA:3261
Lymphoproliferative Syndrome 1	Splenomegaly, Lymphadenopathy	OMIM:613011
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Pancreatic fibrosis, Macronodular cirrhosis, Hyperbilirubinemia, Exocrine pancreati...	OMIM:557000
Acute Interstitial Pneumonia	Hypertension, Lymphadenopathy	ORPHA:79126
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Alopecia, Epicanthus, Abnormal fingernail morphology, Myocardial infarctio...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Alopecia, Epicanthus, Abnormal fingernail morphology, Myocardial infarctio...	ORPHA:99228
Monosomy X	Prolonged QT interval, Alopecia, Epicanthus, Abnormal fingernail morphology, Myocardial infarctio...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Alopecia, Epicanthus, Abnormal fingernail morphology, Myocardial infarctio...	ORPHA:881
Familial Mediterranean Fever	Pericarditis, Proteinuria, Myocardial infarction, Splenomegaly, Vasculitis, Lymphadenopathy, Neph...	ORPHA:342
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d...	OMIM:267010
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, He...	ORPHA:85408
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go...	ORPHA:293987
Pancreatic Agenesis-Holoprosencephaly Syndrome	Reduced C-peptide level, Absent gallbladder, Hypoamylasemia, Pancreatic aplasia	ORPHA:556955
Beckwith-Wiedemann Syndrome	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cryptorchidism, Splenomegaly,...	ORPHA:116
Igg4-Related Kidney Disease	Lymphadenitis, Sterile pyuria, Tubulointerstitial nephritis, Abnormal ureter morphology, Nephroti...	ORPHA:449395
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas physiology, Abnorm...	ORPHA:93111
Infantile Nephropathic Cystinosis	Abnormal cornea morphology, Abnormality of thyroid physiology, Corneal crystals	ORPHA:411629
Fanconi Anemia, Complementation Group D2	Blepharophimosis, Cryptorchidism, Annular pancreas, Bruising susceptibility	OMIM:227646
Lethal Congenital Contracture Syndrome 9	Antecubital pterygium, Axillary pterygium	OMIM:616503
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Lymphadenopathy	OMIM:304790
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Bruising susceptibility	OMIM:618162
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
Autosomal Dominant Polycystic Kidney Disease	Polycystic liver disease, Pancreatic cysts, Elevated circulating creatinine concentration, Hypert...	ORPHA:730
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Cholangiocarcinoma, Gastrointestinal hemorrhage, Cholangitis, Portal hypertension, ...	ORPHA:731
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy	ORPHA:169090
Hyper-Igd Syndrome	Lymphadenitis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Renal angiomyolipoma, Elevated ...	OMIM:260920
Hemophagocytic Lymphohistiocytosis, Familial, 2	Splenomegaly, Prolonged prothrombin time, Lymphadenopathy, Hepatosplenomegaly	OMIM:603553
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf...	OMIM:616263
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Renal insufficiency, Myocardial ...	ORPHA:117
Immunodeficiency 98 With Autoinflammation, X-Linked	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	OMIM:301078
Hemophagocytic Lymphohistiocytosis, Familial, 1	Splenomegaly, Prolonged prothrombin time, Lymphadenopathy	OMIM:267700
Chediak-Higashi Syndrome	Splenomegaly, Spontaneous, recurrent epistaxis, Bruising susceptibility, Lymphadenopathy	OMIM:214500
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Hypertension, Pheochromocytoma, Hepatic hemangioma, R...	OMIM:193300
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center	OMIM:308230
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy	OMIM:603554
Gamma-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100026
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Lymphadenopathy, Ab...	ORPHA:79078
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Acral ulceration	OMIM:256840
Hennekam Syndrome	Epicanthus, Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney, Lymphaden...	ORPHA:2136
Macrophage Activation Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:158061
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,...	ORPHA:892
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Upslanted palpebral fissure, Annular pancreas	ORPHA:488642
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Bradycardia, Synophrys	ORPHA:97297
Distal Deletion 12Q	Telecanthus, Unilateral cryptorchidism, Pituitary adenoma, Biliary atresia, Annular pancreas, Dow...	ORPHA:96149
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Splenomegaly, Lymphadenopathy	ORPHA:436159
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Splenomegaly, Lymphadenopathy, Syncope, Hypotension	ORPHA:98849
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Lymphadenopathy	OMIM:617099
Cherubism	Lower eyelid retraction, Submandibular lymph node enlargement	OMIM:118400
Pauci-Immune Glomerulonephritis	Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Arter...	ORPHA:93126
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Epicanthus, Splenomegaly, Lymphadenopathy, Polysplenia	OMIM:619418
Spondyloenchondrodysplasia With Immune Dysregulation	Raynaud phenomenon, Tubulointerstitial fibrosis, Lymphadenopathy, Purpura	OMIM:607944
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Common Variable Immunodeficiency	Splenomegaly, Vasculitis, Lymphadenopathy, Purpura	ORPHA:1572
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis	OMIM:615503
Chédiak-Higashi Syndrome	Abnormal bleeding, Epistaxis, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Gingival bleedin...	ORPHA:167
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Absent anterior chamber of the eye	OMIM:259770
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Epicanthus, Abnormality of the spleen, Cryptorchidism, Dilated cardi...	ORPHA:1606
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Hypertension, Chronic pancreatitis	OMIM:613159
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Tricuspid regurgitation, Hepatic fibrosis	OMIM:263520
Poems Syndrome	Pulmonary arterial hypertension, Lymphadenopathy	ORPHA:2905
Chikungunya	Abnormal bleeding, Epistaxis, Raynaud phenomenon, Cervical lymphadenopathy, Lymphadenopathy, Ging...	ORPHA:324625
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Opacification of the corneal stroma	OMIM:615287
Schinzel-Giedion Syndrome	Streak ovary, Generalized hypertrichosis, Central hypothyroidism, Shallow orbits, Annular pancrea...	ORPHA:798
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Multiple Myeloma	Splenomegaly, Lymphadenopathy, Nephrotic syndrome, Nephropathy, Acute kidney injury	ORPHA:29073
Adenocarcinoma Of The Anal Canal	Intestinal bleeding, Lymphadenopathy	ORPHA:424016
Coccidioidomycosis	Pericarditis, Renal insufficiency, Abnormality of the spleen, Mediastinal lymphadenopathy, Vascul...	ORPHA:228123
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233690
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Splenomegaly, Lymphadenopathy, Tubulointerstitial nephritis, Nephrotic syndrome, Membranous nephr...	ORPHA:37042
Selective Igm Deficiency	Raynaud phenomenon, Lymphadenitis, Lymphadenopathy	ORPHA:331235
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Lymphadenopathy, Hematuria, Hypertension	ORPHA:536
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Right-to-left shunt, Pulmonary arterial hypertension, Annular pancreas, Pulmonary insuf...	OMIM:265380
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Lymphadenopathy	ORPHA:83471
Craniofacial Microsomia 1	Limbal dermoid, Blepharophimosis, Upper eyelid coloboma, Ptosis	OMIM:164210
Granulomatous Disease, Chronic, X-Linked	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:306400
Generalized Arterial Calcification Of Infancy	Transient ischemic attack, Left ventricular systolic dysfunction, Retinal hemorrhage, Hepatic cal...	ORPHA:51608
Familial Pancreatic Carcinoma	Lymphadenopathy, Hepatosplenomegaly	ORPHA:1333
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Pulmonary arterial hypertension, Bruising susceptibility, Lymphadenopathy	ORPHA:667
Split Cord Malformation	Tufted hairs, Penetrating foot ulcers, Hypertrichosis	ORPHA:573278
Reynolds Syndrome	Gastrointestinal hemorrhage, Erythema nodosum, Raynaud phenomenon, Jaundice, Splenomegaly, Lip te...	OMIM:613471
Immunodeficiency 31C	Splenomegaly, Lymphadenopathy	OMIM:614162
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Immunodeficiency 82 With Systemic Inflammation	Splenomegaly, Follicular hyperplasia, Vasculitis in the skin, Lymphadenopathy	OMIM:619381

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Eye - MPATH pathological process term hyperplasia	Awat2^em1(IMPC)Mbp	HEM		Early adult
Eye - MPATH pathological process term hyperplasia	Awat2^em1(IMPC)Mbp	HOM		Early adult

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 Awat2.

No publications found that use IMPC mice or data for Awat2.

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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
Awat2^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Awat2^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Awat2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Awat2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Awat2 MGI:3045345

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

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Human diseases caused by Awat2 mutations

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