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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
abnormal pancreas morphology	Awat2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Awat2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating aspartate transaminase level	Awat2^em1(IMPC)Mbp	HOM	Early adult	9.61×10^-08
abnormal lymph node morphology	Awat2^em1(IMPC)Mbp	HEM	Early adult	0.00
abnormal eyelid morphology	Awat2^em1(IMPC)Mbp	HEM	Early adult	4.50×10^-21
abnormal urinary bladder morphology	Awat2^em1(IMPC)Mbp	HEM	Early adult	0.00
eye hemorrhage	Awat2^em1(IMPC)Mbp	HOM	Early adult	3.14×10^-13
abnormal eye morphology	Awat2^em1(IMPC)Mbp	HEM	Early adult	0.00
eye hemorrhage	Awat2^em1(IMPC)Mbp	HEM	Early adult	7.22×10^-12
abnormal eyelid morphology	Awat2^em1(IMPC)Mbp	HOM	Early adult	4.99×10^-21

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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.

X-ray

XRay Images Whole Body Dorso Ventral

49 Images

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Histopathology

Images

8 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 (1397 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	Ectropion, Nail dystrophy, Dystrophic fingernails, Facial erythema, Scarring alopecia of scalp, C...	OMIM:308800
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Nail dysplasia, Nail dystrophy, Facial erythema, Palmoplantar keratoderma, Scarring alopecia of s...	OMIM:612843
Ichthyosis, Congenital, Autosomal Recessive 11	Curly eyelashes, Brittle hair, Abnormality of the nail, Hyperkeratosis, Corneal opacity, Curly ha...	OMIM:602400
Clouston Syndrome	Nail dysplasia, Nail dystrophy, Brittle hair, Absent pubic hair, Slow-growing hair, Small nail, E...	OMIM:129500
Atopic Keratoconjunctivitis	Corneal neovascularization, Loss of eyelashes, Abnormal eyelid morphology, Corneal opacity, Corne...	ORPHA:163934
Erythrokeratodermia Variabilis	Abnormal hair morphology, Cutaneous photosensitivity, Abnormality of the nail, Skin rash, Hyperke...	ORPHA:317
Acrodermatitis Enteropathica	Generalized abnormality of skin, Cheilitis, Skin ulcer, Corneal erosion, Ridged nail, Abnormality...	ORPHA:37
Dermatitis, Atopic	Facial erythema, Keratoconus, Dry skin, Atopic dermatitis, Eczematoid dermatitis, Conjunctivitis,...	OMIM:603165
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dysplasia, Nail dystrophy, Facial erythema, Hyperkeratosis, Dry skin, Developmental cataract...	OMIM:212360
Autoinflammation With Arthritis And Dyskeratosis	Corneal neovascularization, Epidermal acanthosis, Follicular hyperkeratosis, Thyroiditis, Dry ski...	OMIM:617388
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Scaling skin, Alopecia of scalp, Nail dystrophy, Dry skin, Conjunctival telangiectasia, Multinodu...	OMIM:618373
Ifap Syndrome 2	Nail dystrophy, Perioral erythema, Atrichia, Angular cheilitis, Posterior blepharitis, Keratitis,...	OMIM:619016
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Slow-growing hair, Sparse scalp hair, Dry skin, Eczematoid dermatitis, Hypohidrosis, Sparse eyela...	OMIM:618535
Vernal Keratoconjunctivitis	Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Red eye, Punct...	ORPHA:70476
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con...	OMIM:180550
Kid Syndrome	Scaling skin, Corneal neovascularization, Nail dystrophy, Epidermal acanthosis, Corneal erosion, ...	ORPHA:477
Xeroderma Pigmentosum	Ectropion, Entropion, Pterygium, Cutaneous photosensitivity, Alopecia, Hyperkeratosis, Dry skin, ...	ORPHA:910
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar...	ORPHA:171673
Lichen Planus Pemphigoides	Abnormality of the nail, Hyperkeratosis, Blepharitis, Conjunctivitis, Skin vesicle	ORPHA:254478
Pili Torti-Onychodysplasia Syndrome	Nail dystrophy, Palmoplantar keratoderma, Brittle hair, Absent eyelashes, Ectodermal dysplasia, D...	ORPHA:2890
Olmsted Syndrome, X-Linked	Epidermal acanthosis, Parakeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Hyper...	OMIM:300918
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Scaling skin, Ectropion, Alopecia of scalp, Epidermal acanthosis, Generalized hyperkeratosis, Abs...	ORPHA:2269
Palmoplantar Carcinoma, Multiple Self-Healing	Corneal neovascularization, Nail dystrophy, Epidermal acanthosis, Parakeratosis, Limbal stem cell...	OMIM:615225
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly, Cherry red ...	OMIM:256540
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis, Epiphora	OMIM:148200
Ulerythema Ophryogenesis	Facial erythema, Contact dermatitis, Dry skin, Sparse lateral eyebrow, Acne, Hyperkeratotic papul...	ORPHA:3406
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Ptosis, Cataract, Aplas...	ORPHA:1067
Gelatinous Drop-Like Corneal Dystrophy	Corneal neovascularization, Central opacification of the cornea, Conjunctival amyloidosis, Subepi...	ORPHA:98957
Mucoepithelial Dysplasia, Hereditary	Nail dysplasia, Corneal neovascularization, Nail dystrophy, Pneumonia, Melena, Follicular hyperke...	OMIM:158310
Immune Thrombocytopenia	Purpura, Gastrointestinal hemorrhage, Hematuria, Petechiae, Gingival bleeding, Epistaxis, Cerebra...	ORPHA:3002
Epilepsy-Telangiectasia	Conjunctival telangiectasia, Synophrys	OMIM:226850
Classic Mycosis Fungoides	Skin ulcer, Lymphadenopathy, Abnormality of the nail, Skin rash, Abnormal eyelid morphology, Hype...	ORPHA:2584
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Ptosis, Upslanted palpebral fissure, Epicanthus, Iris cyst	OMIM:620086
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin, Hypohidrosis, Opacification of the corneal stroma, Cryptorchidism	ORPHA:461
Gómez-López-Hernández Syndrome	Alopecia of scalp, Corneal opacity, Toenail dysplasia, Telecanthus	ORPHA:1532
Tooth Agenesis, Selective, 8	Sparse eyebrow, Dry skin, Sparse hair	OMIM:617073
Poikiloderma With Neutropenia	Nail dystrophy, Recurrent otitis media, Nasolacrimal duct obstruction, Skin rash, Hyperkeratosis,...	OMIM:604173
Rhizomelic Chondrodysplasia Punctata	Dry skin, Sparse body hair, Epicanthus, Cataract, Alopecia	ORPHA:177
Brittle Cornea Syndrome 1	Red hair, Keratoglobus, Keratoconus, Decreased corneal thickness, Epicanthus, Abnormal cornea mor...	OMIM:229200
Winchester Syndrome	Hirsutism, Corneal opacity	OMIM:277950
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Ectodermal Dysplasia/Skin Fragility Syndrome	Scaling skin, Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Ectode...	OMIM:604536
Dermoodontodysplasia	Toenail dysplasia, Abnormal eyelid morphology, Ectodermal dysplasia, Sparse scalp hair, Dry skin,...	ORPHA:1660
Schopf-Schulz-Passarge Syndrome	Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Hyperkeratosis, Ectodermal dyspl...	OMIM:224750
Phenylketonuria	Dry skin, Eczematoid dermatitis, Cataract, Blue irides, Fair hair	OMIM:261600
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy, Epiphora	OMIM:122100
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Blepharitis, Psoriasiform dermatitis, Developmental cataract	OMIM:616834
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Slow-growing hair, Ectodermal dysplasia, Dry skin, Hypohidrosis, Sparse eyelashes, S...	OMIM:129490
Lipoma Of The Conjunctiva	Conjunctival lipoma	OMIM:151700
Bathing Suit Ichthyosis	Scaling skin, Ectropion, Nail dystrophy, Epidermal acanthosis, Parakeratosis, Hypohidrosis, Spars...	ORPHA:100976
Dermatopathia Pigmentosa Reticularis	Alopecia of scalp, Nail dystrophy, Hypohidrosis, Palmoplantar hyperkeratosis, Abnormal conjunctiv...	OMIM:125595
Sjögren-Larsson Syndrome	Corneal erosion, Inflammatory abnormality of the eye, Hyperkeratosis, Dry skin, Urticaria, Erythema	ORPHA:816
Tangier Disease	Nail dysplasia, Ectropion, Nail dystrophy, Dry skin, Cicatricial ectropion, Splenomegaly, Opacifi...	OMIM:205400
X-Linked Dominant Chondrodysplasia Punctata	Scaling skin, Scarring alopecia of scalp, Abnormality of the nail, Microcornea, Erythroderma, Pat...	ORPHA:35173
Xeroderma Pigmentosum, Complementation Group D	Ectropion, Corneal neovascularization, Entropion, Cutaneous photosensitivity, Keratitis, Conjunct...	OMIM:278730
Agel Amyloidosis	Bilateral ptosis, Nail dystrophy, Blepharochalasis, Corneal ulceration, Dermatological manifestat...	ORPHA:85448
Distal Duplication 6P	Abnormal hair quantity, Abnormal eyelash morphology, Dry skin, Ptosis, Cataract, Fine hair, Bleph...	ORPHA:1745
Eec Syndrome	Coarse hair, Decreased response to growth hormone stimulation test, Nail dystrophy, Entropion, Co...	ORPHA:1896
Sturge-Weber Syndrome	Corneal dystrophy, Heterochromia iridis, Conjunctival telangiectasia, Abnormal retinal vascular m...	ORPHA:3205
Epithelial Recurrent Erosion Dystrophy	Corneal erosion, Epiphora	OMIM:122400
Ectodermal Dysplasia-Blindness Syndrome	Skin ulcer, Corneal dystrophy, Microcornea, Hyperkeratosis, Hypohidrosis, Abnormal fingernail mor...	ORPHA:1806
Trichodysplasia-Xeroderma Syndrome	Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Dry skin, Sparse body hair, S...	ORPHA:3361
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Scaling skin, Absent hair, Nail dystrophy, Trichorrhexis nodosa, Facial erythema, Ridged nail, Ab...	ORPHA:1010
Atelis Syndrome 1	Dry skin, Eczematoid dermatitis, Hypothyroidism, Bronchiectasis, Downslanted palpebral fissures, ...	OMIM:620184
Galactosialidosis	Corneal opacity, Cherry red spot of the macula	ORPHA:351
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Scaling skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkeratosis, Dry skin, Atopic de...	ORPHA:530838
3Mc Syndrome 1	Abnormal anterior chamber morphology, Telecanthus, Highly arched eyebrow, Synophrys, Conjunctival...	OMIM:257920
Flotch Syndrome	Inflammatory abnormality of the eye, Abnormality of the nail, Abnormal eyelash morphology, Abnorm...	ORPHA:2045
Corneal Dystrophy, Meesmann, 2	Recurrent corneal erosions, Epiphora	OMIM:618767
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hyperconvex nail, Nail dystrophy, Absent eyelashes, Lacrimal duct atresia, Ectodermal dysplasia, ...	OMIM:106260
Aniridia 1	Bilateral ptosis, Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, ...	OMIM:106210
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Dyskeratosis Congenita	Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Skin ulcer, Palmoplantar ker...	ORPHA:1775
Fabry Disease	Congestive heart failure, Cornea verticillata, Angina pectoris, Arthritis, Corneal dystrophy, Hyp...	ORPHA:324
Hypotrichosis Simplex Of The Scalp	Slow-growing scalp hair, Scaling skin, Alopecia of scalp, Epidermal acanthosis, Parakeratosis, Hy...	ORPHA:90368
Hypohidrotic Ectodermal Dysplasia	Trichorrhexis nodosa, Keratoconjunctivitis sicca, Breast aplasia, Slow-growing hair, Abnormal hai...	ORPHA:238468
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Riddle Syndrome	Scaling skin, Erythema, Arthritis, Conjunctival telangiectasia, Recurrent sinusitis, Recurrent pn...	ORPHA:420741
Trichothiodystrophy 1, Photosensitive	Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Cutaneous photosensitivity, Small nail, Micro...	OMIM:601675
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Onychogryposis of toenails, Ectodermal dysplasia, Dry skin, Hypohidrosis, Long palpebral fissure,...	OMIM:600906
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Hypothyroidism, Hypohidrosis, Spar...	ORPHA:1882
Trichothiodystrophy 6, Nonphotosensitive	Brittle hair, Slow-growing hair, Cutaneous photosensitivity, Microcornea, Dry skin, Tiger tail ba...	OMIM:616943
Epithelial Recurrent Erosion Dystrophy	Recurrent corneal erosions, Epiphora, Corneal dystrophy, Subepithelial corneal opacities, Corneal...	ORPHA:293381
Ichthyosis With Confetti	Scaling skin, Ectropion, Hypoplastic nipples, Palmoplantar hyperkeratosis, Erythroderma, Hypertri...	OMIM:609165
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal dystrophy, Increased corneal thickness, Corneal erosion	OMIM:610048
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Alopecia of scalp, Prematurely aged appearance, Abnormal hair quantity...	ORPHA:2617
Tryptophanuria With Dwarfism	Conjunctival telangiectasia, Cutaneous photosensitivity	OMIM:276100
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Corneal opacity, Posterior embryotoxon, Ptosis, Chorioretinal coloboma, Cataract, Iris coloboma	ORPHA:1473
Keratosis Palmoplantaris Striata Ii	Abnormality of the nail, Epidermal acanthosis, Palmoplantar keratoderma, Abnormal hair morphology	OMIM:612908
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perioral erythema, Perianal erythema, Blepharitis, Pustule, Erythroderma, Paronychia, Onychogryposis	OMIM:614328
Keratosis Pilaris Atrophicans	Absent eyelashes, Sparse eyebrow, Epiphora	OMIM:604093
Congenital Disorder Of Glycosylation, Type Iq	Hyperkeratosis, Dry skin, Eczematoid dermatitis, Cutis laxa, Cataract, Hypertrichosis	OMIM:612379
Mannosidosis, Beta A, Lysosomal	Angiokeratoma, Tortuosity of conjunctival vessels	OMIM:248510
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Corneal erosion, Hyperconvex fingernails, Corneal opacity, Sparse hair, Thin fingernai...	ORPHA:2273
Recon Progeroid Syndrome	Scaling skin, Cutaneous photosensitivity, Hyperconvex thumb nails, Hirsutism, Red eye, Dry skin, ...	OMIM:620370
19Q13.11 Microdeletion Syndrome	Nail dysplasia, Sparse or absent eyelashes, Microcornea, Dry skin, Sparse lateral eyebrow, Sparse...	ORPHA:217346
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Ectropion, Recurrent otitis media, Corneal opacity, Synophrys, Long palpebral fissure, Downslante...	OMIM:602562
Proteus Syndrome	Epidermal acanthosis, Hyperkeratosis, Ptosis, Downslanted palpebral fissures, Lymphangioma, Splen...	OMIM:176920
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Porphyria Cutanea Tarda	Scaling skin, Ectropion, Cutaneous photosensitivity, Hirsutism, Recurrent bacterial skin infectio...	ORPHA:101330
Limb-Mammary Syndrome	Nail dysplasia, Chronic irritative conjunctivitis, Aplasia of the ovary, Breast aplasia, Lacrimal...	ORPHA:69085
Ichthyosis, Congenital, Autosomal Recessive 6	Scaling skin, Ectropion, Epidermal acanthosis, Parakeratosis, Palmoplantar keratoderma, Hyperkera...	OMIM:612281
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Ichthyosis With Erythrokeratoderma	Scaling skin, Leukonychia, Epidermal acanthosis, Parakeratosis, Palmoplantar keratoderma, Diffuse...	OMIM:620507
Arthrogryposis And Ectodermal Dysplasia	Narrow palpebral fissure, Trichiasis, Nail dysplasia, Entropion, Hyperkeratosis, Ectodermal dyspl...	OMIM:601701
Peeling Skin Syndrome 3	White scaling skin, Erythema, Abnormal hair morphology	OMIM:616265
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Lichen Planopilaris	Skin ulcer, Pterygium, Hyperkeratosis, Onycholysis, Abnormal fingernail morphology, Hepatitis, Al...	ORPHA:525
Neurotrophic Keratopathy	Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr...	ORPHA:137596
Sea-Blue Histiocytosis	Petechiae, Blepharitis, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:158029
Olmsted Syndrome 1	Nail dysplasia, Nail dystrophy, Parakeratosis, Periorificial hyperkeratosis, Hyperparakeratosis, ...	OMIM:614594
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent corneal erosions, Scaling skin, Corneal neovascularization, Nail dystrophy, Nail dyspla...	OMIM:308205
Epilepsy-Telangiectasia Syndrome	Conjunctival telangiectasia	ORPHA:1951
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Hurler-Scheie Syndrome	Abnormality of the tonsils, Corneal opacity, Cardiomyopathy, Rhinitis, Generalized hirsutism, Spl...	ORPHA:93476
Warburg-Cinotti Syndrome	Corneal neovascularization, Limbal stem cell deficiency, Decreased corneal thickness, Poor wound ...	OMIM:618175
Immunodeficiency 96	Conjunctival telangiectasia, Recurrent otitis media, Eczematoid dermatitis	OMIM:619774
Bilateral Striopallidodentate Calcinosis	Subcutaneous hemorrhage, Corneal opacity	ORPHA:1980
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Wiskott-Aldrich Syndrome	Hematemesis, Chronic otitis media, Spontaneous hematomas, Sinusitis, Epistaxis, Hematochezia, Pet...	ORPHA:906
Noonan Syndrome 13	Recurrent otitis media, Broad eyebrow, Highly arched eyebrow, Dry skin, Low posterior hairline, A...	OMIM:619087
Xeroderma Pigmentosum Variant	Keratitis, Dry skin, Cutaneous photosensitivity, Telangiectasia	ORPHA:90342
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Scaling skin, Leukonychia, Cheilitis, Epidermal acanthosis, Hyperkeratosis, Dry skin, Angular che...	OMIM:616295
Acute Radiation Syndrome	Scaling skin, Skin ulcer, Hyperkeratosis, Hypotension, Inflammatory abnormality of the skin, Cata...	ORPHA:454831
Chromosome 19Q13.11 Deletion Syndrome, Distal	Nail dysplasia, Short palpebral fissure, Astigmatism, Dry skin, Sparse eyelashes, Ptosis, Sparse ...	OMIM:613026
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Moebius Syndrome	Breast aplasia, Corneal opacity, Ptosis, Blepharitis, Epicanthus	ORPHA:570
Herpes Simplex Virus Stromal Keratitis	Epiphora, Deep anterior chamber, Corneal stromal edema, Descemet Membrane Folds, Conjunctival hyp...	ORPHA:137599
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal hair morphology, Dry skin, Hypohidrosis, Abnormal fingernail morphology, Abnormal toenai...	ORPHA:248
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Vitreous hemorrhage, Purpura, Pulmonary embolism	OMIM:612304
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Polycystic ovaries, Dry skin, Subcapsular cataract, Sparse hair	OMIM:268020
Lamellar Ichthyosis	Chronic otitis media, Ectropion, Abnormality of the nail, Hyperkeratosis, Dry skin, Lack of skin ...	ORPHA:313
Adult Syndrome	Breast hypoplasia, Alopecia of scalp, Cutaneous photosensitivity, Hypoplastic nipples, Ectodermal...	OMIM:103285
Dacryocystitis-Osteopoikilosis Syndrome	Lacrimation abnormality, Dacryocystitis	ORPHA:1562
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Nail dystrophy, Palmoplantar scaling skin, Acantholysis, Woolly hair, F...	OMIM:605676
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	High anterior hairline, Dry skin, Horizontal eyebrow, Low anterior hairline, Thick eyebrow, Cataract	OMIM:618797
Sézary Syndrome	Ectropion, Nail dystrophy, Palmoplantar keratoderma, Lymphadenopathy, Dry skin, Splenomegaly, Ery...	ORPHA:3162
Acute Generalized Exanthematous Pustulosis	Scaling skin, Cheilitis, Purpura, Lymphadenopathy, Predominantly dermal neutrophilic infiltrate, ...	ORPHA:293173
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Cutaneous telangiectasia, Cutaneous photosensitivity, Progeroid faci...	OMIM:615919
Marsili Syndrome	Hypohidrosis, Lacrimation abnormality, Corneal scarring	OMIM:147430
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Dry skin, Decreased testicular size, Cataract, Polycystic ovaries, Cryptorchidism	ORPHA:3085
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Microcornea, Abnormal size of the palpebral fissures, Iris hypopigmenta...	ORPHA:3214
Dermoodontodysplasia	Trichodysplasia, Ectodermal dysplasia, Dry skin, Nail dysplasia	OMIM:125640
Blepharonasofacial Malformation Syndrome	Telecanthus, Torsion dystonia, Abnormal eyelash morphology, Low posterior hairline, Sparse latera...	ORPHA:1252
Short Syndrome	Abnormal anterior chamber morphology, Excessive wrinkled skin, Telecanthus, Corneal opacity, Mega...	ORPHA:3163
Congenital Heart Defects And Ectodermal Dysplasia	High anterior hairline, Medial flaring of the eyebrow, Dry skin, Sparse scalp hair, Fragile nails	OMIM:617364
Ichthyosis Hystrix, Curth-Macklin Type	Scaling skin, Hyperkeratotic papule, Palmoplantar keratoderma, Fragile skin	OMIM:146590
Neovascular Glaucoma	Abnormal anterior chamber morphology, Retinal vascular proliferation, Corneal stromal edema, Rube...	ORPHA:94058
Odontoonychodermal Dysplasia	Nail dysplasia, Epidermal acanthosis, Ridged nail, Hyperhidrosis, Fine hair, Plantar hyperkeratos...	OMIM:257980
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Palmoplantar keratoderma, Cutaneous photosensitivity, Conjunctival hamartoma, Hyperke...	ORPHA:312
Leopard Syndrome 3	Hyperkeratosis, Dry skin, Low posterior hairline, Curly hair, Downslanted palpebral fissures, Pal...	OMIM:613707
Phacoanaphylactic Uveitis	Abnormal corneal endothelium morphology, Hypopyon, Corneal stromal edema, Posterior uveitis, Ante...	ORPHA:209959
Leopard Syndrome 2	Dry skin, Hypertrophic cardiomyopathy, Curly hair, Downslanted palpebral fissures, Epicanthus	OMIM:611554
Neonatal Inflammatory Skin And Bowel Disease	Slow-growing scalp hair, Scaling skin, Generalized abnormality of skin, Erythema, Chronic monilia...	ORPHA:294023
Hepatoerythropoietic Porphyria	Ectropion, Loss of eyelashes, Scarring alopecia of scalp, Corneal ulceration, Keratoconjunctiviti...	ORPHA:95159
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Nail dystrophy, Sparse axillary hair, Decreased response to growth hormone stimulation test, Hype...	OMIM:604292
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Distichiasis, Sparse lateral eyebrow, Downslanted palpebral fissures, Abno...	ORPHA:1807
Hereditary Bullous Dystrophy, Macular Type	Nail dystrophy, Pneumonia, Acrocyanosis, Corneal opacity, Atrichia, Decreased testicular size, Co...	ORPHA:1867
Down Syndrome	Prematurely aged appearance, Keratoconus, Abnormality of the lymphatic system, Blepharitis, Hyper...	ORPHA:870
Bartsocas-Papas Syndrome	Popliteal pterygium, Hypoplastic toenails, Sparse or absent eyelashes, Corneal opacity, Eyelid co...	ORPHA:1234
Oculomaxillofacial Dysostosis	Sparse or absent eyelashes, Abnormal eyelash morphology, Abnormal eyelid morphology, Corneal opac...	ORPHA:1794
Refsum Disease	Nail dysplasia, Heart block, Cardiomyopathy, Dry skin, Ptosis, Splenomegaly, Cataract	ORPHA:773
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Epiphora, Band keratopathy, Corneal opacity, Iris atroph...	OMIM:122000
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pneumonia, Recurrent otitis media, Psoriasiform lesion, Lymphadenopathy, Thyroiditis, Colitis, Ar...	OMIM:614700
2Q24 Microdeletion Syndrome	Abnormality iris morphology, Downslanted palpebral fissures, Cataract	ORPHA:1617
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Ichthyosis, Annular Epidermolytic, 1	Scaling skin, Hyperparakeratosis, Abnormal hair morphology, Abnormality of the nail, Palmoplantar...	OMIM:607602
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Scaling skin, Leukonychia, Skin ulcer, Panniculitis, Abnormal hair morphology, Abnormal eyelash m...	ORPHA:2526
Nasopalpebral Lipoma-Coloboma Syndrome	Upper eyelid coloboma, Epiphora, Telecanthus, Conjunctival hyperemia, Absent lacrimal punctum, Sp...	OMIM:167730
Cutaneous Mastocytoma	Scaling skin, Erythema, Maculopapular exanthema, Hypotension, Angioedema, Darier's sign, Telangie...	ORPHA:79455
Corneal Dystrophy, Reis-Bucklers Type	Palpebral edema, Corneal erosion, Corneal dystrophy, Corneal opacity, Opacification of the cornea...	OMIM:608470
Centrifugal Lipodystrophy	Scaling skin, Lymphadenitis, Lack of facial subcutaneous fat, Reduced subcutaneous adipose tissue...	ORPHA:90156
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Nail dystrophy, Hirsutism, Upslanted palpebral fissure, Dry skin, Low posterior hairline, Synophr...	OMIM:300860
Noonan Syndrome 5	Small nail, Dry skin, Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Ptosis, Sparse ...	OMIM:611553
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia	ORPHA:95433
Frontofacionasal Dysplasia	Aplasia/Hypoplasia of the eyebrow, Upper eyelid coloboma, Telecanthus, Absent inner eyelashes, Mi...	ORPHA:1791
Ataxia-Telangiectasia	Abnormal hair morphology, Hypoplasia of the thymus, Conjunctival telangiectasia, Sinusitis, Bronc...	OMIM:208900
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Rotor Syndrome	Jaundice, Intermittent jaundice, Conjunctival icterus	ORPHA:3111
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Nail dysplasia, Sparse axillary hair, Sparse hair, Decreased response to growth hormone stimulati...	OMIM:129900
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Periorbital wrinkles, Absent eyelashes, Hypoplastic nipples, Ectodermal dysplasia, Sparse scalp h...	OMIM:614941
Juvenile Xanthogranuloma	Iritis, Hyphema, Blepharitis, Asymmetry of iris pigmentation, Uveitis	ORPHA:158000
Morquio Syndrome C	Corneal opacity	OMIM:252300
Lacrimoauriculodentodigital Syndrome	Recurrent corneal erosions, Nail dysplasia, Corneal neovascularization, Abnormal lacrimal duct mo...	ORPHA:2363
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Epidermal acanthosis, Jaundice, Parakeratosis, Thick hair, Sclerosing cholangitis, Dry skin, Port...	OMIM:607626
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Ichthyosis Vulgaris	Absent keratohyalin granules, Dry skin, Eczematoid dermatitis	OMIM:146700
Scalp-Ear-Nipple Syndrome	Nail dysplasia, Palpebral edema, Hypertension, Sparse axillary hair, Sparse hair, Fine hair, Deve...	OMIM:181270
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre...	ORPHA:98973
Spinocerebellar Ataxia, Autosomal Recessive 10	Tortuosity of conjunctival vessels	OMIM:613728
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium, Ankyloblepharon	OMIM:619339
Acquired Ichthyosis	Hyperkeratosis, Dry skin, Palmoplantar keratoderma, Recurrent skin infections, Erythema	ORPHA:454
Lacrimal Duct Defect	Epiphora, Lacrimal duct atresia, Dacryocystitis, Conjunctivitis, Dacryocystocele	OMIM:149700
Ichthyosis, Congenital, Autosomal Recessive 14	Scaling skin, Orthokeratotic hyperkeratosis, Hyperkeratosis, Erythema	OMIM:617571
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Highly arched eyebrow, Ptosis, Long palpebral fissure, Corneal opacity	OMIM:620469
Keratoderma Hereditarium Mutilans With Ichthyosis	Epidermal acanthosis, Nail dystrophy, Parakeratosis, Alopecia, Hyperkeratosis, Scaling skin on fi...	ORPHA:79395
Rapp-Hodgkin Syndrome	Nail dystrophy, Recurrent otitis media, Pili canaliculi, Decreased number of sweat glands, Small ...	OMIM:129400
Peeling Skin Syndrome 1	Scaling skin, Nail dystrophy, Brittle hair, Onycholysis, Erythroderma, Palmoplantar hyperhidrosis	OMIM:270300
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
X-Linked Agammaglobulinemia	Chronic otitis media, Skin ulcer, Arthritis, Skin rash, Abnormality of the tonsils, Abnormality o...	ORPHA:47
Brittle Cornea Syndrome 2	Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ...	OMIM:614170
Peroxisome Biogenesis Disorder 14B	Developmental cataract, Dry skin, Hydrocele testis	OMIM:614920
Alacrima, Congenital, Autosomal Dominant	Decreased lacrimation, Punctate corneal epithelial erosions, Lacrimal gland hypoplasia, Lacrimal ...	OMIM:103420
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Downslanted palpebral fissures, Ch...	OMIM:152950
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Bradycardia, Corneal opacity, Hypertrophic cardiomyopathy, Developmental cataract, Dilated cardio...	OMIM:618815
17Q23.1Q23.2 Microdeletion Syndrome	Chronic otitis media, Highly arched eyebrow, Pulmonary arterial hypertension, Long eyelashes, Ble...	ORPHA:261279
Netherton Syndrome	Trichorrhexis nodosa, Abnormal hair morphology, Skin rash, Sparse scalp hair, Dry skin, Eczematoi...	ORPHA:634
Tangier Disease	Ectropion, Nail dystrophy, Corneal opacity, Dry skin, Chronic noninfectious lymphadenopathy, Oran...	ORPHA:31150
Costello Syndrome	Abnormal hair morphology, Keratoconus, Redundant skin, Hyperkeratosis, Woolly hair, Hypertrophic ...	ORPHA:3071
Nijmegen Breakage Syndrome	Recurrent otitis media, Conjunctival telangiectasia, Sinusitis, Recurrent pneumonia, Epicanthus, ...	OMIM:251260
Mucolipidosis Type Iii	Corneal opacity, Acne	ORPHA:577
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na...	OMIM:600376
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Dry skin, Eczematoid dermatitis, Long eyelashes, Downslanted palpebral fissures, Epicanthus, Elbo...	OMIM:620191
Anterior Segment Dysgenesis 5	Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac...	OMIM:604229
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Hypohidrosis, Lacrimation abnormality	ORPHA:1484
Microtriplication 11Q24.1	Keratoconus, Synophrys, Long eyelashes, Thick eyebrow, Upslanted palpebral fissure	ORPHA:289522
Usmani-Riazuddin Syndrome, Autosomal Recessive	Conjunctival hyperemia, Epicanthus	OMIM:619548
Dyskeratosis Congenita, X-Linked	Premature graying of hair, Nail dystrophy, Pterygium of nails, Ridged nail, Pterygium, Sparse eye...	OMIM:305000
Jung Syndrome	Hypothyroidism, Dry skin, Telecanthus, Low posterior hairline	ORPHA:2321
Nasopalpebral Lipoma-Coloboma Syndrome	Telecanthus, Abnormal eyelash morphology, Corneal opacity, Conjunctival hyperemia, Sparse eyebrow...	ORPHA:2399
Retinal Capillary Malformation	Vitreous hemorrhage, Hyphema, Retinal capillary hemangioma	ORPHA:71213
Sunct Syndrome	Palpebral edema, Episodic hyperhidrosis, Epiphora, Conjunctival hyperemia, Ptosis, Hyperhidrosis,...	ORPHA:57145
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Omenn Syndrome	Lymphadenopathy, Thyroiditis, Erythroderma, Dry skin, Hypothyroidism, Splenomegaly, Aplasia/Hypop...	ORPHA:39041
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Idiopathic Panuveitis	Choroidal neovascularization, Red eye, Conjunctival hyperemia, Cataract, Posterior synechiae of t...	ORPHA:280921
Adult Syndrome	Breast hypoplasia, Skin ulcer, Toenail dysplasia, Nasolacrimal duct obstruction, Abnormality of t...	ORPHA:978
Isolated Congenital Alacrima	Corneal erosion, Lacrimal punctal atresia, Lacrimal gland hypoplasia, Distichiasis, Ptosis, Kerat...	ORPHA:91416
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Dry skin, At...	OMIM:618282
Incontinentia Pigmenti	Skin rash, Corneal opacity, Cerebral ischemia, Broad nail, Hyperhidrosis, Abnormal chorioretinal ...	ORPHA:464
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture, Dry skin, Hypothyroidism, Ptosis, Epicanth...	ORPHA:96169
Acral Peeling Skin Syndrome	Scaling skin, Excessive wrinkling of palmar skin, Erythema, Eczematoid dermatitis	ORPHA:263534
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Abnormal conjunctiva morphology	OMIM:602248
Ablepharon Macrostomia Syndrome	Breast hypoplasia, Excessive wrinkled skin, Corneal erosion, Absent eyelashes, Redundant skin, Co...	ORPHA:920
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Palmoplantar keratoderma, Keratoconus, Fragile nails, Sparse hair, Conjunctivitis, Erythroderma, ...	OMIM:242150
Noonan Syndrome 14	Aortic regurgitation, Dry skin, Low posterior hairline, Hypertrophic cardiomyopathy, Pulmonic ste...	OMIM:619745
Waardenburg Syndrome Type 1	Premature graying of hair, Telecanthus, Abnormal hair morphology, Hypopigmentation of hair, White...	ORPHA:894
Cataract 21, Multiple Types	Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I...	OMIM:610202
Peeling Skin Syndrome 5	Scaling skin, Epidermal acanthosis, Hyperkeratosis	OMIM:617115
Bachmann-Bupp Syndrome	Small nail, Sparse scalp hair, Dry skin, Absent eyebrow, Sparse eyelashes, Ptosis, Downslanted pa...	OMIM:619075
Peeling Skin Syndrome 4	Scaling skin, Nail dystrophy, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Ort...	OMIM:607936
Insensitivity To Pain, Congenital, With Anhidrosis	Recurrent corneal erosions, Nail dysplasia, Nail dystrophy, Acral ulceration, Corneal ulceration,...	OMIM:256800
Radio-Tartaglia Syndrome	High anterior hairline, Small nail, Highly arched eyebrow, Hirsutism, Long eyebrows, Dry skin, Lo...	OMIM:619312
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Nasolacrimal duct obstruction, Microc...	OMIM:612109
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea	OMIM:217300
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cataract, Ptosis, Tortuosity of conjunctival vessels	ORPHA:284289
Harel-Yoon Syndrome	Upslanted palpebral fissure, Developmental cataract, Corneal opacity, Hypertrophic cardiomyopathy	OMIM:617183
Leber Congenital Amaurosis 6	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:613826
Sympathetic Ophthalmia	Posterior uveitis, Anterior chamber cells, Retinal hemorrhage, Poliosis, Corneal keratic precipit...	ORPHA:79098
Familial Reactive Perforating Collagenosis	Abnormal epidermal morphology, Perifolliculitis, Inflammatory abnormality of the skin, Hyperkerat...	ORPHA:79147
Peeling Skin Syndrome 2	Scaling skin, Abnormality of the nail, Erythema	OMIM:609796
Lattice Corneal Dystrophy Type I	Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification...	ORPHA:98964
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Bazex Syndrome	Scaling skin, Nail dystrophy, Yellow nails, Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma	ORPHA:166113
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Idiopathic Localized Lipodystrophy	Scaling skin, Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema	ORPHA:90158
22Q11.2 Deletion Syndrome	Chronic otitis media, Gastrointestinal hemorrhage, Corneal neovascularization, Seborrheic dermati...	ORPHA:567
Aicardi-Goutieres Syndrome 5	Scaling skin, Dry skin, Chilblains	OMIM:612952
Hereditary Hemorrhagic Telangiectasia	Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Nasal mucosa telangiec...	ORPHA:774
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Hypotrichosis And Recurrent Skin Vesicles	Leukonychia, Epidermal acanthosis, Sparse scalp hair, Angular cheilitis, Sparse eyelashes, Sparse...	OMIM:613102
Trichothiodystrophy	Ectropion, Ridged nail, Cardiomyopathy, Aplasia/Hypoplasia of the nails, Concave nail, Congenital...	ORPHA:33364
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,...	OMIM:617319
Kaposiform Lymphangiomatosis	Enlarged kidney, Epidural hemorrhage, Abnormal bleeding, Abnormality of the lymphatic system, Abn...	ORPHA:464329
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Flynn-Aird Syndrome	Cataract, Primary adrenal insufficiency, Skin ulcer, Alopecia	ORPHA:2047
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia	OMIM:606002
Congenital Disorder Of Glycosylation, Type Im	Bradycardia, Hyperkeratosis, Dry skin, Sparse eyelashes, Sparse eyebrow, Inflammatory abnormality...	OMIM:610768
Hatipoglu Immunodeficiency Syndrome	Premature graying of hair, Recurrent otitis media, Petechiae, Dry skin, Atopic dermatitis, Eczema...	OMIM:620331
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Intermediate Uveitis	Band keratopathy, Optic neuritis, Vasculitis, Anterior uveitis, Cataract, Psoriasiform dermatitis...	ORPHA:279914
Adiposis Dolorosa	Arthritis, Dry skin, Hypothyroidism, Sparse pubic hair, Telangiectasia of the skin, Sparse axilla...	ORPHA:36397
Congenital Erythropoietic Porphyria	Ectropion, Loss of eyelashes, Scarring alopecia of scalp, Corneal ulceration, Keratoconjunctiviti...	ORPHA:79277
Arthrogryposis, Distal, Type 5	Astigmatism, Keratoglobus, Keratoconus, Ptosis, Epicanthus, Blepharophimosis	OMIM:108145
Thiel-Behnke Corneal Dystrophy	Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop...	ORPHA:98960
Familial Melanoma	Abnormality of the lymphatic system, Neoplasm of the pancreas, Dry skin, Abnormal hair morphology	ORPHA:618
Verrucous Hemangioma	Epidermal acanthosis, Inflammatory abnormality of the skin, Hyperkeratotic papule	ORPHA:464318
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microcornea, Corneal opacity, Persistent pupillary membrane, Uveitis, Hyphema, Shallow anterior c...	OMIM:221900
Prolidase Deficiency	Skin ulcer, Cutaneous photosensitivity, Hyperkeratosis, Hirsutism, Dry skin, White forelock, Abno...	ORPHA:742
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Scaling skin, Chronic oral candidiasis, Lymphadenopathy, Thyroiditis, Patchy alopecia, Eczematoid...	OMIM:606367
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Purpura, Skin ulcer, Mediastinal lymphadenopathy, Petechiae, Vasculi...	ORPHA:91138
Craniosynostosis-Mental Retardation-Clefting Syndrome	Chorioretinal coloboma, Dry skin	OMIM:218650
Distal Deletion 6P	Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto...	ORPHA:96125
Congenital Ichthyosiform Erythroderma	Ectropion, Palmoplantar keratoderma, Corneal erosion, Abnormality of the nail, Hypohidrosis, Kera...	ORPHA:79394
Ichthyosis, X-Linked	Testicular neoplasm, Hypohidrosis, Palmoplantar keratoderma, Opacification of the corneal stroma,...	OMIM:308100
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Testicular seminoma, Corneal opacity, Hypohidrosis, Cryptorchidism	ORPHA:281090
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Palmoplantar hyperkeratosis, Epidermal...	OMIM:615598
Bartsocas-Papas Syndrome 1	Ectropion, Small nail, Ablepharon, Cicatricial lagophthalmos, Ankyloblepharon, Axillary pterygium...	OMIM:263650
Blau Syndrome	Skin rash, Hypertension, Pericarditis, Splenomegaly, Erythema nodosum, Abnormal choroid morpholog...	ORPHA:90340
Uv-Sensitive Syndrome 3	Dry skin, Cutaneous photosensitivity, Telangiectasia	OMIM:614640
Koolen-De Vries Syndrome	Abnormality of hair texture, Dry skin, Eczematoid dermatitis, Pulmonic stenosis, Ptosis, Iris hyp...	OMIM:610443
Dermatoosteolysis, Kirghizian Type	Dystrophic fingernails, Skin ulcer, Abnormality of the nail, Dystrophic toenail, Keratitis, Osteo...	ORPHA:1657
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Highly arched eyebrow, Decreased corneal thickness, Hirsutism, Decreased testicular size, Cryptor...	ORPHA:293967
Congenital Hereditary Endothelial Dystrophy Type Ii	Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ...	ORPHA:293603
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Lymphadenopathy, Urticaria, Conjunctivitis	OMIM:617772
Uv-Sensitive Syndrome 1	Dry skin, Cutaneous photosensitivity, Telangiectasia	OMIM:600630
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Pupillary Membrane, Persistence Of	Developmental cataract, Persistent pupillary membrane, Megalocornea	OMIM:178900
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplastic/hypoplastic toenail, Abnormal eyelid morphology, Dry skin, Hypohidrosis, Hypothyroidism,...	ORPHA:1812
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Ischemic stroke, Right-to-left shunt, Lip telangiectasia, Spontaneous, rec...	OMIM:610655
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Ectropion, Anterior polar cataract, Dry skin, Left-to-right shunt, Shallow orbits, Downslanted pa...	OMIM:620510
Leukonychia Totalis	Adenoma sebaceum, Abnormal eyelash morphology, Blepharitis, Abnormal fingernail morphology, Abnor...	ORPHA:2387
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Corneal opacity, Hypertrophic cardiomyopathy, Cataract, Cryptorchidism, Upslanted palpebral fissure	ORPHA:496790
Congenital Syphilis	Myocarditis, Palmoplantar scaling skin, Pneumonia, Purpura, Pancreatitis, Lymphadenopathy, Petech...	ORPHA:499009
Ataxia-Photosensitivity-Short Stature Syndrome	Urticaria, Dry skin, Cutaneous photosensitivity	ORPHA:1184
Diffuse Cutaneous Mastocytosis	Scaling skin, Generalized abnormality of skin, Gastrointestinal hemorrhage, Lymphadenopathy, Hypo...	ORPHA:79456
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Multiple Sulfatase Deficiency	Corneal opacity, Thick eyebrow, Splenomegaly, Cataract, Coarse hair	ORPHA:585
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan...	OMIM:187300
Amyloidosis, Primary Localized Cutaneous, 1	Scaling skin, Dry skin	OMIM:105250
Amyloidosis, Primary Localized Cutaneous, 3	Dry skin, Cutaneous photosensitivity	OMIM:617920
Oculocerebrocutaneous Syndrome	Iris coloboma, Corneal opacity, Ptosis, Abnormal fingernail morphology, Eyelid coloboma, Cryptorc...	ORPHA:1647
Hallermann-Streiff Syndrome	Hypertension, Sparse scalp hair, Pulmonary arterial hypertension, Dry skin, Sparse eyelashes, Spa...	OMIM:234100
Brittle Cornea Syndrome	Corneal erosion, Keratoglobus, Corneal dystrophy, Decreased corneal thickness, Abnormality of hai...	ORPHA:90354
Anonychia With Flexural Pigmentation	Dry skin, Anonychia	OMIM:106750
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Ectropion, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Sjogren-Larsson Syndrome	Opacification of the corneal epithelium, Astigmatism, Abnormality of the nail, Abnormal hair morp...	OMIM:270200
Leprosy	Iritis, Loss of eyelashes, Acral ulceration, Corneal ulceration, Hyperkeratosis, Uveitis, Penetra...	ORPHA:548
Thyrotropin-Releasing Hormone Deficiency	Hypothyroidism, Dry skin, Hypothalamic hypothyroidism	OMIM:275120
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Palpebral edema, Skin ulcer, Cutaneous photosensitivity, Angina pect...	ORPHA:93672
Epidermolytic Hyperkeratosis 1	Erythroderma, Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis	OMIM:113800
Macular Dystrophy, Corneal	Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea	OMIM:217800
Leber Congenital Amaurosis 2	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:204100
Myoectodermal Gonadal Dysgenesis Syndrome	Scaling skin, Hypoplasia of the lacrimal punctum, Accessory spleen, Highly arched eyebrow, Dry sk...	OMIM:618419
Beta-Mercaptolactate Cysteine Disulfiduria	Downslanted palpebral fissures, Dry skin	ORPHA:1035
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Leber Congenital Amaurosis 4	Keratoconus, Attenuation of retinal blood vessels	OMIM:604393
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Short palpebral fissure, Astigmatism, Recurrent otitis media, Dry skin, Pulmonic stenosis, Sparse...	OMIM:620654
Prolidase Deficiency	Diffuse telangiectasia, Skin ulcer, Facial hirsutism, Petechiae, Low posterior hairline, Eczemato...	OMIM:170100
8Q21.11 Microdeletion Syndrome	Corneal opacity, Eczematoid dermatitis, Ptosis, Iris hypopigmentation, Downslanted palpebral fiss...	ORPHA:284160
Hydroa Vacciniforme	Keratitis, Epiphora	ORPHA:330058
Cardiofaciocutaneous Syndrome	Sparse or absent eyelashes, Redundant skin, Low posterior hairline, Pulmonic stenosis, Sparse hai...	ORPHA:1340
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Epiphora, Abnormal lacrimal sac morphology, Ectropion of lower...	ORPHA:141083
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis, Dry skin, Hypohidrosis, Onycholysis, Abnormal fingernail morphology, Hypoplastic ...	ORPHA:1028
Candidiasis, Familial, 8	Blepharitis, Chronic oral candidiasis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Pterygium Of Conjunctiva And Cornea	Abnormal conjunctiva morphology, Pterygium	OMIM:178000
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome	Dry skin	ORPHA:2271
Kawasaki Disease	Myocarditis, Congestive heart failure, Abnormality of nail color, Cheilitis, Jaundice, Cervical l...	ORPHA:2331
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Low anterior hairline, Corneal opacity	OMIM:613153
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Scaling skin, Hyperkeratosis, Dry skin, Erythema	OMIM:614457
Congenital Sialidosis Type 2	Petechiae, Generalized hypertrichosis, Corneal opacity, Developmental cataract, Cherry red spot o...	ORPHA:93400
Mucolipidosis Iv	Opacification of the corneal stroma, Corneal opacity	OMIM:252650
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Broad eyebrow, Highly arched eyebrow, Hirsutism, Dry skin, Woolly hair, Low anterior hairline, Cr...	OMIM:619244
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent corneal erosions, Trichiasis, Nail dystrophy, Nail dysplasia, Corneal ulceration, Absen...	OMIM:148210
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Scaling skin, Parakeratosis, Psoriasiform lesion, Superficial dermal perivascular inflammatory in...	ORPHA:284426
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Bilateral ptosis, Corneal neovascularization, Corneal scarring, Splenomegaly, Lagophthalmos	ORPHA:404454
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Ocular anterior segment dysgenesis, Small pituitary gland, Band keratopathy, Hypoplasia of the ir...	OMIM:614195
Iridocorneal Endothelial Syndrome	Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a...	ORPHA:64734
Psoriasis 2	Scaling skin, Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Psoriasiform dermatitis	OMIM:602723
Congenital Rubella Syndrome	Jaundice, Skin rash, Corneal opacity, Splenomegaly, Cataract, Aplasia/Hypoplasia of the iris	ORPHA:290
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Ichthyosis, Congenital, Autosomal Recessive 2	Ectropion, Epidermal acanthosis, Thin nail, Abnormal hair morphology, Small nail, Hyperkeratosis,...	OMIM:242100
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Upper eyelid coloboma, Abnormal eyelid morphology, Generalized hirsutism, Sclerocorn...	ORPHA:2095
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Macular Corneal Dystrophy	Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy...	ORPHA:98969
Naegeli-Franceschetti-Jadassohn Syndrome	Nail dystrophy, Decreased number of sweat glands, Palmoplantar hyperkeratosis, Dystrophic toenail...	ORPHA:69087
Leber Congenital Amaurosis 1	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:204000
Brachyolmia Type 1, Hobaek Type	Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Squalene Synthase Deficiency	Cutaneous photosensitivity, Abnormality of hair pigmentation, Dry skin, Bilateral cryptorchidism,...	OMIM:618156
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Concave nail, Brittle hair, Periorbital wrinkles, Absent eyelashes, Hypoplastic nipples, Absent n...	OMIM:305100
Reynolds Syndrome	Generalized abnormality of skin, Skin ulcer, Keratoconjunctivitis sicca, Jaundice, Arthritis, Ski...	ORPHA:779
Traboulsi Syndrome	Spherophakia, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow anterior chamber, Downslanted p...	OMIM:601552
Dubowitz Syndrome	Hypoparathyroidism, Telecanthus, Cutaneous photosensitivity, Sparse scalp hair, Dry skin, Eczemat...	ORPHA:235
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Corneal pterygium, Nail dystrophy, Skin ulcer, Recurrent loss of toenails and fingernails, Symble...	OMIM:245660
Paroxysmal Hemicrania	Conjunctival hyperemia, Palpebral edema, Ptosis, Epiphora	ORPHA:157835
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Vasculitis, Skin rash, Vasculitis in the skin, Inflammation of the large intesti...	OMIM:617718
Graft Versus Host Disease	Gastrointestinal inflammation, Scaling skin, Pneumonia, Jaundice, Lymphadenopathy, Inflammatory a...	ORPHA:39812
Tularemia	Pneumonia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Inflammatory a...	ORPHA:3392
Peeling Skin Syndrome 6	Scaling skin, Parakeratosis, Dry skin, Atopic dermatitis, Orthokeratosis	OMIM:618084
Greig Cephalopolysyndactyly Syndrome	Nail dysplasia, Keratoconus, Hirsutism, Downslanted palpebral fissures, Cryptorchidism	OMIM:175700
Gapo Syndrome	Nail dysplasia, Breast hypoplasia, Keratoconus, Redundant skin, Hypoplastic nipples, Megalocornea...	OMIM:230740
Hereditary Acrokeratotic Poikiloderma	Ectropion, Nail dystrophy, Dystrophic fingernails, Skin ulcer, Erythema, Dystrophic toenail, Kera...	ORPHA:2907
Mal De Meleda	Epidermal acanthosis, Superficial dermal perivascular inflammatory infiltrate, Nonepidermolytic p...	ORPHA:87503
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Developmental glaucoma, Corneal opacity, Aniridia, Telecanthus	ORPHA:1064
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Astigmatism, Telecanthus, Small nail, Hirsutism, Corneal opacity, Pulmonic s...	OMIM:301056
Brooke-Spiegler Syndrome	Nodular changes affecting the eyelids, Skin ulcer, Trichoepithelioma, Skin appendage neoplasm, Ab...	ORPHA:79493
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Skin ulcer, Ectopia lentis, Bronchiectasis, Chronic sinusitis	OMIM:604571
Primary Sjögren Syndrome	Optic neuritis, Cutis marmorata, Erythema nodosum, Corneal perforation, Vasculitis, Thyroiditis, ...	ORPHA:289390
Auriculocondylar Syndrome 2B	Limbal dermoid, Telecanthus, Sparse hair, Synophrys	OMIM:620458
Congenital Disorder Of Glycosylation, Type Iil	Hyperkeratosis, Dry skin, Hypohidrosis, Inflammation of the large intestine, Splenomegaly, Epican...	OMIM:614576
Microphthalmia/Coloboma 9	Ocular anterior segment dysgenesis, Microcornea, Ptosis, Sclerocornea, Narrow palpebral fissure, ...	OMIM:615145
Heme Oxygenase 1 Deficiency	Lymphadenopathy, Hypertension, Asplenia, Chemosis, Nephritis, Epistaxis, Diffuse alveolar hemorrh...	OMIM:614034
Fucosidosis	Petechiae, Dry skin, Anhidrosis, Thick eyebrow, Angiokeratoma, Cherry red spot of the macula, Spl...	OMIM:230000
Rodrigues Blindness	Microcornea, Ectodermal dysplasia, Sclerocornea, Sparse hair, Fine hair	OMIM:268320
Woolly Hair Nevus	Woolly scalp hair, Persistent pupillary membrane, Heterochromia iridis, Curly hair, Congenital po...	ORPHA:79414
Alpha-Mannosidosis	Chronic otitis media, Generalized abnormality of skin, Arthritis, Corneal opacity, Splenomegaly, ...	ORPHA:61
Weill-Marchesani Syndrome 4	Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the ...	OMIM:613195
Retinopathy Of Prematurity	Vitreous hemorrhage	ORPHA:90050
X-Linked Intellectual Disability, Nascimento Type	Nail dystrophy, Upslanted palpebral fissure, Lumbar hypertrichosis, Low posterior hairline, Pulmo...	ORPHA:163956
Microphthalmia, Syndromic 16	Sclerocornea, Ankyloblepharon	OMIM:611038
Proliferating Trichilemmal Cyst	Skin ulcer, Sparse scalp hair	ORPHA:492
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Cholelithiasis, Conjunctival icterus, Splenomegaly, Pallor, Hepatitis	OMIM:194380
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Bitot spots of the conjunctiva, Follicular hyperkeratosis	OMIM:277350
Kanzaki Disease	Angiokeratoma corporis diffusum, Telangiectasia of the oral mucosa, Lip telangiectasia, Petechiae...	OMIM:609242
Tooth Agenesis, Selective, 4	Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Dry skin, Hypohidrosis, Sparse bod...	OMIM:150400
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent hair, Brittle hair, Absent nipple, Dry skin, Hypohidrosis, Anhidrosis, Sparse hair, Hypohi...	OMIM:614940
Wagro Syndrome	Aniridia, Hypertension, Corneal opacity, Decreased testicular size, Ptosis, Downslanted palpebral...	OMIM:612469
Zellweger Syndrome	Abnormal chorioretinal morphology, Jaundice, Corneal opacity, Posterior embryotoxon, Primary adre...	ORPHA:912
Chilblain Lupus 1	Skin ulcer, Cutaneous photosensitivity, Abnormality of the nail, Chilblains, Raynaud phenomenon	OMIM:610448
Paroxysmal Extreme Pain Disorder	Lacrimation abnormality	OMIM:167400
Ichthyosis, Congenital, Autosomal Recessive 1	Nail dysplasia, Ectropion, Nail dystrophy, Epidermal acanthosis, Parakeratosis, Sparse hair, Palm...	OMIM:242300
Kerion Celsi	Lymphadenopathy	ORPHA:499
Sialidosis Type 2	Corneal opacity, Splenomegaly	ORPHA:87876
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619126
Crimean-Congo Hemorrhagic Fever	Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Epistaxis, Splenomegaly, Diffuse a...	ORPHA:99827
Dietary Iron Overload Disease	Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H...	ORPHA:139507
Psoriasis-Related Juvenile Idiopathic Arthritis	Iritis, Psoriasiform lesion, Malar rash, Skin rash, Oligoarthritis, Onycholysis, Sacroiliac arthr...	ORPHA:85436
Cornelia De Lange Syndrome	Curly eyelashes, Highly arched eyebrow, Microcornea, Hypoplastic nipples, Low posterior hairline,...	ORPHA:199
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hypohidrosis, Corneal scarring, Decreased lacrimation, Corneal ulceration	OMIM:616488
Atrophoderma Vermiculata	Heart block, Abnormal epidermal morphology, Hyperkeratotic papule, Erythema, Follicular hyperkera...	ORPHA:79100
Rat-Bite Fever	Myocarditis, Morbilliform rash, Scaling skin, Pancreatitis, Arthritis, Parotitis, Skin rash, Lymp...	ORPHA:31205
Werner Syndrome	Premature graying of hair, Congestive heart failure, Aplasia/Hypoplasia of the testes, Ovarian ne...	ORPHA:902
Night Blindness, Congenital Stationary, Type 1C	Dry skin	OMIM:613216
Hajdu-Cheney Syndrome	Skin ulcer, Telecanthus, Periodontitis, Dry skin, Synophrys, Aortic valve stenosis, Downslanted p...	ORPHA:955
Encephalocraniocutaneous Lipomatosis	Subcutaneous lipoma, Hypoplasia of the iris, Sclerocornea, Eyelid coloboma, Limbal dermoid, Crypt...	OMIM:613001
Ichthyosis, Annular Epidermolytic, 2	Scaling skin, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Erythema	OMIM:620148
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Sparse scalp hair, Cataract, Abnormal cornea morphology, Iris coloboma	ORPHA:2611
Leber Congenital Amaurosis 8	Cataract, Keratoconus, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:613835
Axenfeld-Rieger Syndrome, Type 3	Posterior embryotoxon, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia ...	OMIM:602482
Proteus-Like Syndrome	Thymus hyperplasia, Heterochromia iridis, Subcutaneous lipoma, Downslanted palpebral fissures, Sp...	ORPHA:2969
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis, Fragile skin	OMIM:615028
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Naxos Disease	Nail dystrophy, Epidermal acanthosis, Paroxysmal ventricular tachycardia, Premature ventricular c...	OMIM:601214
Acrogeria	Skin ulcer, Excessive wrinkled skin, Prematurely aged appearance, Telangiectasia of the skin, Fin...	ORPHA:2500
9P13 Microdeletion Syndrome	Hypoplastic toenails, Recurrent otitis media, Highly arched eyebrow, Dry skin, Thick eyebrow, Epi...	ORPHA:324313
Huriez Syndrome	Small nail, Abnormality of the nail, Dry skin, Lack of skin elasticity, Palmoplantar keratoderma	ORPHA:384
Chilblain Lupus	Skin ulcer, Malar rash, Skin rash, Discoid lupus rash, Hyperkeratosis, Cutis marmorata, Inflammat...	ORPHA:90280
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Coarse hair, Left ventricular systolic dysfunction, Nail dystrophy, High anterior hairline, Ventr...	OMIM:620519
Incontinentia Pigmenti	Nail dysplasia, Nail dystrophy, Ridged nail, Sparse hair, Fine hair, Breast hypoplasia, Retinal v...	OMIM:308300
Pterygium, Antecubital	Antecubital pterygium	OMIM:178200
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Cryptorchidism, Dry skin, Follicular hyperkeratosis	ORPHA:486815
Unilateral Ocular Duplication	Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Blepharophimosis, Iris coloboma	ORPHA:3374
Intellectual Developmental Disorder, Autosomal Dominant 54	Astigmatism, Thin nail, Dry skin, Eczematoid dermatitis, Anhidrosis, Sparse hair	OMIM:617799
Oculocerebral Hypopigmentation Syndrome, Cross Type	Ectropion, Hypopigmentation of hair, Corneal opacity, Choroideremia, Iris hypopigmentation, Catar...	ORPHA:2719
Grubben-De Cock-Borghgraef Syndrome	Dry skin, Eczematoid dermatitis	ORPHA:2101
Familial Cold Urticaria	Arthritis, Urticaria, Hyperhidrosis, Conjunctivitis, Erythema	ORPHA:47045
Congenital Disorder Of Glycosylation, Type If	Erythroderma, Dry skin, Hyperkeratosis, Scaling skin	OMIM:609180
Keratoconus Posticus Circumscriptus	Keratoconus, Central posterior corneal opacity	OMIM:244600
Spinocerebellar Ataxia Type 34	Hypohidrosis, Urticaria, Dry skin	ORPHA:1955
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Chronic mucocutaneous candidiasis, Adrenal hyperplasia, Primary adr...	ORPHA:3453
Bacterial Toxic-Shock Syndrome	Myocarditis, Scaling skin, Pneumonia, Capillary leak, Arthritis, Skin rash, Myositis, Hypotension...	ORPHA:36234
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Plague	Hematemesis, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia, Skin ras...	ORPHA:707
Waardenburg Syndrome	Premature graying of hair, Telecanthus, Hypopigmentation of hair, Heterochromia iridis, Synophrys...	ORPHA:3440
Juvenile Sialidosis Type 2	Generalized hypertrichosis, Corneal opacity, Hepatosplenomegaly, Cherry red spot of the macula, C...	ORPHA:93399
Leber Congenital Amaurosis	Cataract, Keratoconus	ORPHA:65
Trichothiodystrophy 4, Nonphotosensitive	Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Small nail, Microcornea, Abno...	OMIM:234050
Retinoschisis 1, X-Linked, Juvenile	Vitreous hemorrhage	OMIM:312700
Perlman Syndrome	Hepatomegaly, Abnormal pancreas morphology, Ptosis, Epicanthus, Cryptorchidism	ORPHA:2849
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Buerger Disease	Skin ulcer, Vasculitis, Intermittent claudication, Hyperhidrosis, Raynaud phenomenon, Acrocyanosi...	ORPHA:36258
Lowry-Maclean Syndrome	Developmental glaucoma, Generalized hypertrichosis, Corneal opacity, Megalocornea, Bilateral cryp...	ORPHA:2409
Complex Regional Pain Syndrome	Abnormality of hair growth, Slow-growing nails, Dry skin, Erythema	ORPHA:83452
3Mc Syndrome 3	Highly arched eyebrow, Corneal opacity, Ptosis, Epicanthus inversus, Cryptorchidism, Blepharophim...	OMIM:248340
Alacrima, Congenital, Autosomal Recessive	Alacrima, Punctate corneal epithelial erosions	OMIM:601549
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Free Sialic Acid Storage Disease	Iris hypopigmentation, Skin ulcer, Splenomegaly	ORPHA:834
De Barsy Syndrome	Dermal translucency, Excessive wrinkled skin, Prominent veins on trunk, Corneal opacity, Cutis la...	ORPHA:2962
Sialidosis Type 1	Vascular skin abnormality, Hyperkeratosis, Corneal opacity, Splenomegaly, Cherry red spot of the ...	ORPHA:812
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Nail dystrophy, Dry skin	OMIM:620502
Chime Syndrome	Skin ulcer, Hyperkeratosis, Corneal opacity, Ptosis, Epicanthus, Sparse hair, Fine hair, Upslante...	ORPHA:3474
Pemphigus Foliaceus	Scaling skin, Acantholysis, Pustule, Erythroderma, Skin vesicle, Psoriasiform dermatitis, Crustin...	ORPHA:79481
Cockayne Syndrome B	Abnormal hair morphology, Cutaneous photosensitivity, Prematurely aged appearance, Microcornea, H...	OMIM:133540
Hypothyroidism, Congenital, Nongoitrous, 6	Increased T3/T4 ratio, Dry skin, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism	OMIM:614450
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hypoplastic fingernail, Pulmonary arterial hypertension, Synophrys, Blepharitis, Recurrent aspira...	ORPHA:280633
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Mucolipidosis Type Iii Alpha/Beta	Congestive heart failure, Recurrent otitis media, Aortic regurgitation, Corneal opacity, Epicanth...	ORPHA:423461
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity...	OMIM:175780
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ...	OMIM:136800
Hurler-Scheie Syndrome	Aortic regurgitation, Hirsutism, Corneal opacity, Pulmonary arterial hypertension, Splenomegaly, ...	OMIM:607015
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Psoriasiform lesion, Lymphadenopathy, Hepatosplenomegaly, Erythroderma, Alopecia	ORPHA:169154
Immunodeficiency 58	Chronic otitis media, Scaling skin, Psoriasiform lesion, Recurrent aphthous stomatitis, Cutaneous...	OMIM:618131
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Developmental cataract, Posterior synechiae of the anterior chamber	OMIM:616722
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Dry skin, Urticaria	ORPHA:1954
Chondroectodermal Dysplasia With Night Blindness	Nail dystrophy, Hyperhidrosis, Epiphora, Abnormal hair morphology	ORPHA:319195
Oculoauriculofrontonasal Syndrome	Limbal dermoid, Upper eyelid coloboma	ORPHA:398156
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension, Corneal opacity	OMIM:166300
Inflammatory Skin And Bowel Disease, Neonatal, 2	Epidermal acanthosis, Hypertension, Long eyelashes, Pustule, Recurrent pneumonia	OMIM:616069
Hurler Syndrome	Bilateral ptosis, Recurrent otitis media, Aortic regurgitation, Hirsutism, Corneal opacity, Cardi...	OMIM:607014
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microcornea, Long eyelashes, Cryptophthalmos, Sclerocornea, Ectopia pupillae, Epicanthus, Cataract	OMIM:615877
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Skin ulcer, Pancreatitis, Corneal erosion, Entropion, Conjunctivitis...	ORPHA:537
21Q22.11Q22.12 Microdeletion Syndrome	Short palpebral fissure, Nail dystrophy, Recurrent otitis media, Small nail, Hypoplastic nipples,...	ORPHA:261323
Granulomatosis With Polyangiitis	Chronic otitis media, Skin ulcer, Localized pulmonary hemorrhage, Retinal hemorrhage, Episcleriti...	OMIM:608710
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Upslanted palpebral fissure, Epicanthus	ORPHA:401777
Marburg Hemorrhagic Fever	Prolonged prothrombin time, Bradycardia, Hyperammonemia, Pericarditis, Elevated circulating creat...	ORPHA:99826
Fish-Eye Disease	Angina pectoris, Splenomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
Tumoral Calcinosis, Normophosphatemic, Familial	Conjunctivitis	OMIM:610455
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma, Polycystic ovaries	ORPHA:1643
Basan Syndrome	Nail dystrophy, Epidermal acanthosis, Palmoplantar hypohidrosis, Ectodermal dysplasia, Palmoplant...	OMIM:129200
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Premature skin wrinkling, Corneal opacity, Cutis laxa, Developmental catara...	OMIM:616603
Isolated Agammaglobulinemia	Pneumonia, Skin ulcer, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormality of ...	ORPHA:229717
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Hyperbilirubinemia, Retinal ...	ORPHA:464321
Ectodermal Dysplasia-Skin Fragility Syndrome	Scaling skin, Nail dystrophy, Cheilitis, Fragile skin, Hypohidrosis, Recurrent pneumonia, Recurre...	ORPHA:158668
Congenital Primary Aphakia	Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C...	ORPHA:83461
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Kindler Epidermolysis Bullosa	Ectropion, Cheilitis, Periodontitis, Cutaneous photosensitivity, Hyperkeratosis, Corneal opacity,...	ORPHA:2908
Blau Syndrome	Iritis, Skin ulcer, Band keratopathy, Erythema nodosum, Hypertension, Arthritis, Synovitis, Eczem...	OMIM:186580
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Lymphadenopathy, Skin rash, Splenomegaly, Conjunctivitis	OMIM:603552
Cranioectodermal Dysplasia 3	Telecanthus, Ectodermal dysplasia, Dry skin, Broad nail, Cutis laxa, Short nail, Sparse hair, Fin...	OMIM:614099
Neuhauser Syndrome	Corneal arcus, Iris transillumination defect, Iridodonesis, Primary hypothyroidism, Megalocornea,...	OMIM:249310
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Trichiasis, Nail dystrophy, Skin ulcer, Generalized abnormality of...	ORPHA:95455
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Megalocornea	ORPHA:2741
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Microphthalmia With Brain And Digit Anomalies	Nail dysplasia, Microcornea, Sclerocornea, Chorioretinal coloboma, Cataract, Cryptorchidism, Iris...	ORPHA:139471
Arterial Tortuosity Syndrome	Ischemic stroke, Short palpebral fissure, Astigmatism, Aortic regurgitation, Blepharophimosis, Ke...	OMIM:208050
Farber Disease	Lymphadenopathy, Arthritis, Corneal opacity, Hepatosplenomegaly, Cherry red spot of the macula, O...	ORPHA:333
Tyrosinemia Type 2	Abnormality of the nail, Hyperkeratosis, Corneal opacity, Hyperhidrosis, Palmoplantar keratoderma	ORPHA:28378
Nail-Patella Syndrome	Microphakia, Ridged nail, Keratoconus, Microcornea, Ptosis, Concave nail, Antecubital pterygium, ...	OMIM:161200
Nestor-Guillermo Progeria Syndrome	Progeroid facial appearance, Nail dystrophy, Sinus tachycardia, Hypertension, Right bundle branch...	OMIM:614008
Barber-Say Syndrome	Ectropion, Dermal translucency, Premature skin wrinkling, Telecanthus, Redundant skin, Hypoplasti...	OMIM:209885
Fucosidosis	Generalized hyperkeratosis, Vascular skin abnormality, Abnormality of the nail, Corneal opacity, ...	ORPHA:349
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Hypertension, Epistaxi...	ORPHA:340
Thyroid Dyshormonogenesis 1	Hypothyroidism, Goiter, Dry skin	OMIM:274400
Alagille Syndrome	Keratoconus, Corneal dystrophy, Hypertension, Downslanted palpebral fissures, Telangiectasia of t...	ORPHA:52
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber	OMIM:618880
Juvenile Hyaline Fibromatosis	Skin ulcer, Abnormal hair morphology	ORPHA:2028
Mpdu1-Cdg	Scaling skin, Decreased response to growth hormone stimulation test, Eczematoid dermatitis	ORPHA:79323
Gomez-Lopez-Hernandez Syndrome	Downslanted palpebral fissures, Opacification of the corneal stroma, Decreased response to growth...	OMIM:601853
Acral Self-Healing Collodion Baby	Palmoplantar scaling skin, Lack of skin elasticity, Erythema	ORPHA:281127
Chromosome 6Pter-P24 Deletion Syndrome	Short palpebral fissure, Ocular anterior segment dysgenesis, Telecanthus, Axenfeld anomaly, Poste...	OMIM:612582
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Skin rash, Urticaria, Conjunctivitis, Uveitis	OMIM:120100
Zika Virus Disease	Myelitis, Subcutaneous hemorrhage, Arthritis, Skin rash, Chorioretinal atrophy, Infectious enceph...	ORPHA:448237
Xfe Progeroid Syndrome	Cutaneous photosensitivity, Prematurely aged appearance, Hypertension, Dry skin, Corneal scarring...	OMIM:610965
Subacute Cutaneous Lupus Erythematosus	Cheilitis, Psoriasiform lesion, Cutaneous photosensitivity, Malar rash, Discoid lupus rash, Hyper...	ORPHA:163525
Ermine Phenotype	White eyebrow, White hair, White eyelashes, Abnormal iris pigmentation	OMIM:227010
Dermatomyositis	Skin rash, Sinus tachycardia, Pericarditis, Shawl sign, Palmar hyperkeratosis, Myocarditis, Abnor...	ORPHA:221
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormality of thyroid physiology, Dry skin, Prolonged neonatal jaundice, Decreased circulating T...	ORPHA:95715
Vitreoretinopathy, Neovascular Inflammatory	Vitreous hemorrhage, Posterior retinal neovascularization, Peripheral retinal neovascularization	OMIM:193235
Hereditary Sensory And Autonomic Neuropathy Type 4	Corneal ulceration, Corneal scarring, Dry skin, Anhidrosis, Hyperhidrosis, Recurrent aspiration p...	ORPHA:642
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology, Cryptorchidism, Upslanted palpebral fissure, Small nail	ORPHA:250999
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Cataract, Foot osteomyelitis, Osteomyelitis, Acral ulceration	OMIM:162400
Sheehan Syndrome	Breast hypoplasia, Orthostatic hypotension, Reduced circulating prolactin concentration, Bradycar...	ORPHA:91355
Dowling-Degos Disease 4	Epidermal acanthosis	OMIM:615696
Cockayne Syndrome A	Cutaneous photosensitivity, Prematurely aged appearance, Hypertension, Dry skin, Thymic hormone d...	OMIM:216400
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Epidermal acanthosis, White scaling skin, Erythroderma, ...	OMIM:604777
Immunodeficiency, Common Variable, 2	Recurrent otitis media, Lymphadenopathy, Recurrent pneumonia, Recurrent sinusitis, Splenomegaly, ...	OMIM:240500
Takayasu Arteritis	Skin ulcer, Inflammatory abnormality of the eye, Vasculitis, Arthritis, Hypertension, Cerebral is...	ORPHA:3287
Immune Dysregulation, Autoimmunity, And Autoinflammation	Petechiae, Gingival bleeding, Ecchymosis, Epistaxis, Inguinal lymphadenopathy, Cervical lymphaden...	OMIM:620514
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Diffuse palmoplantar hyperkeratosis, Abnormal fingernail morphology, Hyperh...	ORPHA:2199
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia, Dry skin, Congenital hypothyroidism, Prolonged neonatal jaundice, Decreased circulat...	ORPHA:226313
Classic Progressive Supranuclear Palsy Syndrome	Decreased lacrimation, Axial dystonia, Tremor, Blepharospasm, Conjunctival hyperemia, Dystonia	ORPHA:240071
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Broad eyebrow, Hyperkeratosis, Corneal scarring, Hypohidrosis, Recurrent pneumonia, Cutis marmora...	OMIM:301220
Mucopolysaccharidosis, Type Vii	Recurrent otitis media, Hirsutism, Corneal opacity, Cardiomyopathy, Thick eyebrow, Splenomegaly, ...	OMIM:253220
Erythrokeratodermia Variabilis Et Progressiva 4	Hyperkeratosis, Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis	OMIM:617526
Behcet Syndrome	Iritis, Hypopyon, Arthritis, Chorioretinitis, Patchy alopecia, Raynaud phenomenon, Epididymitis, ...	OMIM:109650
Microscopic Polyangiitis	Congestive heart failure, Gastrointestinal hemorrhage, Skin ulcer, Pancreatitis, Vasculitis, Skin...	ORPHA:727
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Onychauxis, Dry skin, Hypertrichosis	OMIM:262190
White Sponge Nevus 1	Abnormal conjunctiva morphology	OMIM:193900
Radial Heads, Posterior Dislocation Of	Antecubital pterygium	OMIM:179200
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Alopecia of scalp, Perioral erythema, Dry skin, Decreased testicular size, Perianal erythema, Spl...	OMIM:201100
Oculoectodermal Syndrome	Astigmatism, Microcornea, Chorioretinal atrophy, Transient ischemic attack, Hypertrophic cardiomy...	OMIM:600268
Hurler Syndrome	Angina pectoris, Abnormality of the tonsils, Hypertension, Corneal opacity, Cardiomyopathy, Rhini...	ORPHA:93473
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Muckle-Wells Syndrome	Conjunctival hyperemia, Recurrent aphthous stomatitis, Maculopapular exanthema, Conjunctivitis	OMIM:191900
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis	ORPHA:26137
Muckle-Wells Syndrome	Recurrent aphthous stomatitis, Vasculitis, Skin rash, Arthritis, Episcleritis, Urticaria, Splenom...	ORPHA:575
Elastosis Perforans Serpiginosa	Cutis laxa, Epidermal acanthosis, Crusting erythematous dermatitis, Hyperkeratotic papule	ORPHA:79148
Mucopolysaccharidosis Type 1	Chronic otitis media, Congestive heart failure, Abnormality of the tonsils, Corneal opacity, Hype...	ORPHA:579
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Myositis, Skin rash, Conjunctival hyperemia, Erysipelas, Conjunctivi...	OMIM:142680
Toriello-Lacassie-Droste Syndrome	Short palpebral fissure, Telecanthus, Eyelid coloboma, Epicanthus, Limbal dermoid, Blepharophimos...	ORPHA:3339
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Nail dysplasia, Nail dystrophy, Corneal scarring, Fragile skin, Conjunctivitis, Cataract, Alopecia	OMIM:226600
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Generalized abnormality of skin, Nail dystrophy, Onychogryposis, Corneal opacity, Fragile skin, P...	ORPHA:79396
Lujo Hemorrhagic Fever	Myocarditis, Purpura, Elevated circulating C-reactive protein concentration, Bradycardia, Fulmina...	ORPHA:319213
Relapsing Polychondritis	Myocarditis, Large vessel vasculitis, Purpura, Recurrent aphthous stomatitis, Inflammatory abnorm...	ORPHA:728
Hypothyroidism, Congenital, Nongoitrous, 4	Hypothyroidism, Dry skin, Decreased circulating T4 concentration	OMIM:275100
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Supraventricular arrhythmia, Elevated circulating creatine kinase concentration, Retinal hemorrha...	OMIM:611773
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Lacrimation abnormality	ORPHA:1135
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Congestive heart failure, Panniculitis, Noncompaction cardiomyopathy, Dry skin, Tricuspid regurgi...	ORPHA:508542
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Jaundice, Prolo...	ORPHA:57777
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Tbck-Related Intellectual Disability Syndrome	Decreased response to growth hormone stimulation test, Hirsutism, Corneal opacity, Synophrys, Pul...	ORPHA:488632
Edict Syndrome	Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris	OMIM:614303
Anterior Segment Dysgenesis 3	Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e...	OMIM:601631
Hereditary Mucoepithelial Dysplasia	Corneal dystrophy, Hyperkeratosis, Sparse hair, Cataract, Fine hair, Alopecia	ORPHA:1839
Attenuated Chédiak-Higashi Syndrome	Bruising susceptibility, Skin ulcer, Epistaxis, Ocular albinism	ORPHA:352723
Immunodeficiency 104	Splenomegaly, Lymphadenopathy	OMIM:608971
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic oral candidiasis, Nail dystrophy, Hypoparathyroidism, Cholelithiasis, Chronic active hepa...	OMIM:240300
Lymphedema-Distichiasis Syndrome	Ectropion, Corneal erosion, Distichiasis, Conjunctivitis, Ptosis, Arrhythmia, Cataract, Recurrent...	ORPHA:33001
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity	ORPHA:2788
Autosomal Recessive Cutis Laxa Type 2A	Excessive wrinkled skin, Thick hair, Downslanted palpebral fissures, Abnormal cornea morphology, ...	ORPHA:357058
Diffuse Palmoplantar Keratoderma, Bothnian Type	Skin ulcer, Erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:2337
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Dry skin, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Narrow palpebral fis...	ORPHA:2637
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Congestive heart failure, Gastrointestinal hemorrhage, Excessive wrinkled skin, Keratoconus, Micr...	OMIM:225400
Gapo Syndrome	Palpebral edema, Prematurely aged appearance, Keratoconus, Sparse eyelashes, Sparse eyebrow, Earl...	ORPHA:2067
Fuchs Endothelial Corneal Dystrophy	Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of...	ORPHA:98974
Restrictive Dermopathy	Scaling skin, Short palpebral fissure, Generalized hyperkeratosis, Entropion, Sparse or absent ey...	ORPHA:1662
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Nail dystrophy, Yellow nails, Onycholysis, Orthokeratotic hyperkeratosis, H...	OMIM:148700
Alpha-Mannosidosis, Adult Form	Pneumonia, Aortic regurgitation, Corneal opacity, Hepatosplenomegaly, Cataract	ORPHA:309288
Proboscis Lateralis	Nasolacrimal duct obstruction, Orbital cyst, Microcornea, Abnormal nasolacrimal system morphology...	ORPHA:141099
Encephalocraniocutaneous Lipomatosis	Iris coloboma, Abnormal eyelash morphology, Abnormal eyelid morphology, Corneal opacity, Abnormal...	ORPHA:2396
Giant Cell Arteritis	Skin ulcer, Mediastinal lymphadenopathy, Vasculitis, Arthritis, Cerebral ischemia, Pericarditis, ...	ORPHA:397
Megalocornea-Intellectual Disability Syndrome	Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Megalocornea, Hypoplasia of the ...	ORPHA:2479
Congenital Factor Xii Deficiency	Retinal arteriolar occlusion, Penetrating foot ulcers, Retinal vein occlusion	ORPHA:330
Gm1 Gangliosidosis	Congestive heart failure, Hirsutism, Corneal opacity, Cardiomyopathy, Aspiration pneumonia, Gener...	ORPHA:354
Scheie Syndrome	Splenomegaly, Rhinitis, Corneal opacity, Aortic regurgitation	ORPHA:93474
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Skin ulcer, Anhidrosis, Abnormal fingernail morphology, Sparse hair, Palmoplantar keratoderma, Pa...	ORPHA:659
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad eyebrow, Corneal dystrophy, Hirsutism, Corneal opacity, Long eyelashes, Synophrys, Sparse e...	ORPHA:495875
Aicardi-Goutières Syndrome	Developmental glaucoma, Panniculitis, Myositis, Arthritis, Chilblains, Hypertrophic cardiomyopath...	ORPHA:51
Lipodystrophy, Familial Partial, Type 7	Decreased adipose tissue around neck, Orthostatic hypotension, Hypertension, Sparse scalp hair, P...	OMIM:606721
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short palpebral fissure, Telecanthus, Small nail, Corneal opacity, Synophrys, Thin eyebrow	ORPHA:364577
Riddle Syndrome	Dry skin	OMIM:611943
Peroxisome Biogenesis Disorder 2A (Zellweger)	Palpebral edema, Jaundice, Hypoplasia of the thymus, Epicanthus, Brushfield spots, Cataract, Opac...	OMIM:214110
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Hypoplastic nipples, Multiple pterygia, Epicanthus, Pterygium	OMIM:177980
Otoonychoperoneal Syndrome	Abnormality of the nail, Popliteal pterygium, Upslanted palpebral fissure	ORPHA:2793
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Branchio-Oculo-Facial Syndrome	Premature graying of hair, Iris coloboma, Microcornea, Ptosis, Fingernail dysplasia, Cataract, Up...	ORPHA:1297
3Q29 Microduplication Syndrome	Aniridia, Downslanted palpebral fissures, Sclerocornea, Cataract, Iris coloboma	ORPHA:251038
Tubulointerstitial Nephritis And Uveitis Syndrome	Vitreous hemorrhage, Choroidal neovascularization, Iris nevus, Skin rash, Chorioretinal scar, Ant...	ORPHA:91500
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum, Cutaneous abscess, Chronic furunculosis	OMIM:619986
Lacrimoauriculodentodigital Syndrome 2	Lacrimal duct atresia, Absent lacrimal punctum, Lacrimal duct aplasia, Conjunctivitis, Alacrima	OMIM:620192
Mucolipidosis Type Iv	Palmoplantar keratoderma, Corneal opacity	ORPHA:578
Glycosylphosphatidylinositol Biosynthesis Defect 17	Chronic otitis media, Dry skin, Osteomyelitis	OMIM:618010
Autoimmune Polyendocrine Syndrome, Type Ii	Band keratopathy, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Asplenia, Hypothyroidi...	OMIM:269200
Dracunculiasis	Recurrent cutaneous abscess formation, Arthritis, Skin rash, Skin ulcer	ORPHA:231
Immunodeficiency, Common Variable, 3	Recurrent sinusitis, Recurrent otitis media, Conjunctivitis	OMIM:613493
Fusariosis	Skin ulcer, Panniculitis, Maculopapular exanthema, Myositis, Arthritis, Bronchiectasis, Sinusitis...	ORPHA:228119
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent pneumonia, Recurrent sinusitis, Atrophic gastritis, Bronchiectasis, Recurrent skin infe...	OMIM:616576
Axenfeld-Rieger Syndrome, Type 2	Telecanthus, Microcornea, Opacification of the corneal stroma, Cryptorchidism, Anterior chamber s...	OMIM:601499
Yao Syndrome	Keratoconjunctivitis sicca, Arthritis, Skin rash, Pericarditis, Inflammatory abnormality of the s...	OMIM:617321
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Alacrima, Abnormality of adrenal physiology, Anisocoria	OMIM:300858
Bone Marrow Failure Syndrome 4	Dry skin, Eczematoid dermatitis	OMIM:618116
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Arthritis, Purulent rhinitis, Otitis media, Conjunctivitis, Pneumonia	OMIM:601457
Arterial Tortuosity Syndrome	Myocarditis, Congestive heart failure, Short palpebral fissure, Keratoglobus, Prematurely aged ap...	ORPHA:3342
Olmsted Syndrome 2	Epidermal acanthosis, Cheilitis, Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Woolly h...	OMIM:619208
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma, Splenomegaly, Cherry red spot of the macula	OMIM:230650
Immunodeficiency, Common Variable, 1	Recurrent otitis media, Lymphadenopathy, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis...	OMIM:607594
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein expression	OMIM:247100
Wiedemann-Rautenstrauch Syndrome	Ectropion, Small nail, Alopecia of scalp, Entropion, Absent eyelashes, Sparse eyelashes, Downslan...	OMIM:264090
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
Premature Aging Syndrome, Penttinen Type	Prematurely aged appearance, Corneal stromal edema, Hyperkeratosis, Corneal opacity, Shallow orbi...	OMIM:601812
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Dry skin, Hypohidrosis, Anhidrosis, Splenomegaly, Sparse hair, Anhidrotic ecto...	OMIM:612132
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Chronic otitis media, Scaling skin, Small pituitary gland, Thyroid hypoplasia, Cutis laxa, Decrea...	OMIM:619503
Chromosome 8Q21.11 Deletion Syndrome	Short palpebral fissure, Ptosis, Downslanted palpebral fissures, Sclerocornea, Epicanthus, Catara...	OMIM:614230
Oculodentodigital Dysplasia, Autosomal Recessive	Short palpebral fissure, Telecanthus, Microcornea, Persistent pupillary membrane, Sparse eyelashe...	OMIM:257850
Charcot-Marie-Tooth Disease Type 4B2	Developmental glaucoma, Penetrating foot ulcers, Ptosis, Cataract, Buphthalmos	ORPHA:99956
Necrobiosis Lipoidica	Skin ulcer, Fragile skin, Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema	ORPHA:542592
Ddost-Cdg	Primary hypothyroidism, Dry skin	ORPHA:300536
Familial Dysautonomia	Corneal erosion, Orthostatic hypotension, Hypertension, Corneal opacity, Heterochromia iridis, Hy...	ORPHA:1764
Chronic Bilirubin Encephalopathy	Prolonged neonatal jaundice, Abnormal conjunctiva morphology, Conjunctival icterus	ORPHA:529808
Acute Bilirubin Encephalopathy	Prolonged neonatal jaundice, Abnormal conjunctiva morphology, Conjunctival icterus	ORPHA:529799
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Prolonged QT interval, Concentric hypertrophic cardiomyopathy, Pterygiu...	OMIM:618052
Immunodeficiency 46	Chronic oral candidiasis, Conjunctivitis	OMIM:616740
Kimura Disease	Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Gaucher Disease Type 1	Pinguecula, Cholelithiasis, Splenic infarction, Pulmonary arterial hypertension, Portal hypertens...	ORPHA:77259
Angelman Syndrome	Astigmatism, Keratoconus, Ptosis, Iris hypopigmentation, Fair hair	ORPHA:72
Trichorhinophalangeal Syndrome, Type Ii	Alopecia of scalp, Astigmatism, Recurrent otitis media, Chronic gastritis, Sparse scalp hair, Bil...	OMIM:150230
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Xeroderma Pigmentosum, Variant Type	Ectropion, Cutaneous telangiectasia, Entropion, Cutaneous photosensitivity, Keratitis, Conjunctiv...	OMIM:278750
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the spleen	ORPHA:543
Hypocomplementemic Urticarial Vasculitis	Small vessel vasculitis, Lymphadenopathy, Inflammatory abnormality of the eye, Arthritis, Skin ra...	ORPHA:36412
Leptospirosis	Acute kidney injury, Lymphadenopathy, Hypotension, Retinal hemorrhage, Cellular urinary casts, Pe...	ORPHA:509
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormal corneal endothelium morphology, Posterior subcapsular cataract, Chorioretinal atrophy, A...	ORPHA:364055
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Abnormal lymph node morphology, Petechiae, Epistaxis, Hepatosplenomegaly, Sple...	OMIM:612840
Leber Congenital Amaurosis 9	Keratoconus, Attenuation of retinal blood vessels	OMIM:608553
Schimmelpenning-Feuerstein-Mims Syndrome	Corneal opacity, Alopecia	OMIM:163200
Crouzon Syndrome	Ptosis, Iris coloboma, Conjunctivitis	ORPHA:207
Trisomy 9P	Hypoplastic fingernail, Downslanted palpebral fissures, Hypoplastic toenails, Fingernail dysplasi...	ORPHA:236
Autoimmune Hypoparathyroidism	Prolonged QT interval, Chronic mucocutaneous candidiasis, Autoimmune hypoparathyroidism, Ventricu...	ORPHA:36913
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,...	OMIM:613270
Orofaciodigital Syndrome Type 1	Chronic otitis media, Telecanthus, Brittle hair, Hypertension, Dry skin, Downslanted palpebral fi...	ORPHA:2750
Walker-Warburg Syndrome	Microcornea, Corneal opacity, Chorioretinal dysplasia, Cataract, Cryptorchidism, Iris coloboma	ORPHA:899
Ramos-Arroyo Syndrome	High anterior hairline, Corneal ulceration, Chorioretinal atrophy, Sparse scalp hair, Choriocapil...	ORPHA:1051
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Lacrimal duct atresia, Thyroid C cell hyperplasia, Cardiac arrest, V...	OMIM:300952
Ichthyosis Prematurity Syndrome	Alopecia of scalp, Epidermal acanthosis, Erythroderma, Dermatographic urticaria, Allergic rhiniti...	OMIM:608649
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Telecanthus, Palmoplantar hyperkeratosis, Highly arched eyebrow, Hypoplastic nipples, Dry skin, S...	OMIM:280000
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Ectropion, S-shaped palpebral fissures, Lacrimal gland aplasia, Abnormal lacrimal duct morphology...	ORPHA:572333
Collagenoma, Familial Cutaneous	Congestive heart failure, Right ventricular cardiomyopathy, Primary testicular failure, Atrial fi...	OMIM:115250
Restrictive Dermopathy 1	Scaling skin, Short palpebral fissure, Entropion, Absent eyelashes, Prominent superficial blood v...	OMIM:275210
Woodhouse-Sakati Syndrome	Scaling skin, Decreased response to growth hormone stimulation test, Abnormal T-wave, Hypothyroid...	ORPHA:3464
Focal Dermal Hypoplasia	Abnormality of the nail, Alopecia, Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Telan...	ORPHA:2092
Frontonasal Dysplasia 2	Short palpebral fissure, Decreased lacrimation, Telecanthus, Bilateral cryptorchidism, Hypohidros...	OMIM:613451
Aicardi-Goutieres Syndrome 9	Increased blood pressure, Chorioretinal atrophy, Hypertension, Acute pancreatitis, Chilblains, Po...	OMIM:619487
Autosomal Agammaglobulinemia	Chronic otitis media, Arthritis, Skin rash, Sinusitis, Epicanthus, Conjunctivitis, Bronchiectasis...	ORPHA:33110
Norrie Disease	Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar...	OMIM:310600
Den Hoed-De Boer-Voisin Syndrome	Downslanted palpebral fissures, Thick eyebrow, Dry skin, Widow's peak	OMIM:619229
Ichthyosis, Congenital, Autosomal Recessive 9	Ectropion, Epidermal acanthosis, Hyperkeratosis, Hypohidrosis, Erythroderma, Orthokeratosis	OMIM:615023
Oculodentodigital Dysplasia	Palmoplantar keratoderma, Brittle hair, Abnormality iris morphology, Slow-growing hair, Microcorn...	ORPHA:2710
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Epidermal acanthosis, Parakeratosis, Hyperkeratosis, Dry skin, Xerostomia	OMIM:618527
Reticular Dysgenesis	Chronic otitis media, Skin rash, Skin ulcer, Aplasia/Hypoplasia of the thymus	ORPHA:33355
Acrocraniofacial Dysostosis	Lacrimation abnormality, Downslanted palpebral fissures, Ptosis, Telecanthus	ORPHA:949
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Abnormality of the orbital region, Pterygium, Arthritis, Hypertension, Hirsutism, Nodular goiter,...	ORPHA:371428
Histiocytoid Cardiomyopathy	Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su...	ORPHA:137675
Mietens Syndrome	Cataract, Microcornea, Sclerocornea, Corneal opacity	ORPHA:2557
Lacrimoauriculodentodigital Syndrome 3	Absent eyelashes, Absent lacrimal punctum, Epicanthus, Lacrimal duct aplasia, Alacrima, Xerostomia	OMIM:620193
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Nail dysplasia, Ectropion, Axillary pterygium, Nail dystrophy, Fragile skin, Anonychia	OMIM:226730
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Skin ulcer, Acral ulceration	ORPHA:139578
Xeroderma Pigmentosum, Complementation Group E	Ectropion, Entropion, Cutaneous photosensitivity, Keratitis, Conjunctivitis, Telangiectasia	OMIM:278740
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Myositis, Vasculitis, Skin rash, Arthritis, Pericarditis, Erysipelas, Orchitis, ...	ORPHA:32960
Mucopolysaccharidosis Type 3	Chronic otitis media, Adenoiditis, Reduced left ventricular ejection fraction, Thick hair, Recurr...	ORPHA:581
Papa Syndrome	Skin ulcer, Lymphadenopathy, Myositis, Arthritis, Crohn's disease, Pustule, Acne, Increased infla...	ORPHA:69126
Chand Syndrome	Nail dysplasia, Dry skin, Curly hair, Hypohidrosis, Ankyloblepharon	ORPHA:1401
Beta-Thalassemia	Skin ulcer, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Pallor, Hepatitis	ORPHA:848
Dominant Beta-Thalassemia	Skin ulcer, High-output congestive heart failure, Hypoparathyroidism, Jaundice, Hypothyroidism, C...	ORPHA:231226
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Dry sk...	ORPHA:99832
Persistent Hyperplastic Primary Vitreous	Epiphora, Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, ...	ORPHA:91495
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Conjunctivitis	OMIM:612692
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Lymphadenopathy, Recurrent tonsillitis	OMIM:618852
Johanson-Blizzard Syndrome	Absent lacrimal punctum, Abnormal hair pattern, Exocrine pancreatic insufficiency, Lacrimation ab...	ORPHA:2315
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Chronic otitis media, Generalized abnormality of skin, Dystrophic fingernails, Skin ulcer, Abnorm...	ORPHA:2314
Autosomal Dominant Hypocalcemia	Congestive heart failure, Abnormality of the nail, Hypotension, Dry skin, Eczematoid dermatitis, ...	ORPHA:428
Wilson Disease	Jaundice, Acute hepatitis, Kayser-Fleischer ring, Arthritis, Splenomegaly, Bruising susceptibilit...	ORPHA:905
Sarcoidosis	Erythema nodosum, Abnormal conjunctiva morphology, Enlarged lacrimal glands, Abnormal cardiac ven...	ORPHA:797
Zygomycosis	Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Retinal arterial occlusion,...	ORPHA:73263
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Small nail, Hypoplastic nipples, Ectodermal dysplasia, Sparse hair, Arrhythmia, Nasolacrimal duct...	OMIM:273400
Kindler Syndrome	Corneal erosion, Ridged nail, Cutaneous photosensitivity, Periodontitis, Fragile skin, Telangiect...	OMIM:173650
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Skin ulcer, Generalized hirsutism, Osteomyelitis	ORPHA:2218
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Dyskeratosis Congenita, Autosomal Dominant 3	Premature graying of hair, Nail dysplasia, Gastrointestinal hemorrhage, Nail dystrophy, Dry skin,...	OMIM:613990
Exudative Vitreoretinopathy 4	Vitreous hemorrhage	OMIM:601813
Limited Cutaneous Systemic Sclerosis	Mucosal telangiectasiae, Skin ulcer, Telangiectasia of the skin, Pulmonary arterial hypertension	ORPHA:220402
Syndromic Diarrhea	Trichorrhexis nodosa, Gastritis, Aortic regurgitation, Hypopigmentation of hair, Brittle hair, Un...	ORPHA:84064
Cole Disease	Epidermal acanthosis, Abnormal hair morphology, Abnormality of the nail, Hyperkeratosis, Palmopla...	OMIM:615522
Dermatofibrosarcoma Protuberans	Skin ulcer, Erythema	ORPHA:31112
Oculodentodigital Dysplasia	Short palpebral fissure, Slow-growing hair, Microcornea, Fragile nails, Sparse hair, Arrhythmia, ...	OMIM:164200
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis, Buphthalmos	OMIM:251750
Mu-Heavy Chain Disease	Splenomegaly, Bence Jones Proteinuria, Lymphadenopathy, Nephropathy	ORPHA:100024
Rabson-Mendenhall Syndrome	Premature graying of hair, Thick hair, Hirsutism, Cardiomyopathy, Dry skin, Hypothyroidism, Reduc...	ORPHA:769
Aceruloplasminemia	Congestive heart failure, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:48818
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Developmental cataract, Posterior synechiae of the anterior chamber	OMIM:613154
Spondylospinal Thoracic Dysostosis	Multiple pterygia	OMIM:601809
Sanjad-Sakati Syndrome	Astigmatism, Hypoparathyroidism, Congenital hypoparathyroidism, Corneal opacity, Cryptorchidism	ORPHA:2323
Hydroxykynureninuria	Tachycardia, Dry skin, Hypotension, Stomatitis	ORPHA:79155
Granular Corneal Dystrophy Type Ii	Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube...	ORPHA:98963
Branchiootorenal Syndrome 1	Euthyroid goiter, Gustatory lacrimation, Lacrimal duct aplasia, Lacrimation abnormality, Lacrimal...	OMIM:113650
Scheie Syndrome	Aortic valve stenosis, Mitral stenosis, Corneal opacity, Aortic regurgitation	OMIM:607016
Lymphedema-Distichiasis Syndrome	Recurrent corneal erosions, Ectropion, Yellow nails, Corneal ulceration, Distichiasis, Conjunctiv...	OMIM:153400
Ablepharon-Macrostomia Syndrome	Hypoplastic fingernail, Premature skin wrinkling, Absent eyelashes, Hypoplastic nipples, Redundan...	OMIM:200110
Shigellosis	Myocarditis, Purpura, Corneal ulceration, Acute colitis, Arthritis, Splenic abscess, Hypovolemic ...	ORPHA:810
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Upslanted palpebral fissure, Dry skin, Accessory spleen	OMIM:619306
Hereditary Sensory And Autonomic Neuropathy Type 1	Skin ulcer, Hyperkeratosis, Penetrating foot ulcers, Poor wound healing, Osteomyelitis	ORPHA:36386
Dyskeratosis Congenita, Autosomal Recessive 1	Nail dystrophy, Pterygium, Small nail, Palmoplantar hyperkeratosis, Sparse scalp hair, Sparse eye...	OMIM:224230
Cockayne Syndrome Type 2	Uveitis, Developmental cataract, Conjunctivitis, Cryptorchidism, Progeroid facial appearance	ORPHA:90322
Hec Syndrome	Cardiomyopathy, Arrhythmia, Developmental cataract, Abnormal retinal vascular morphology, Vaginal...	ORPHA:2119
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:444463
Psoriasis 14, Pustular	Nail dystrophy, Epidermal acanthosis, Parakeratosis, Cholangitis, Pustule, Psoriasiform dermatiti...	OMIM:614204
Autosomal Dominant Cutis Laxa	Congestive heart failure, Redundant neck skin, Aortic regurgitation, Premature skin wrinkling, Pr...	ORPHA:90348
Ophthalmoplegia, Familial Static	Ptosis, Anisocoria	OMIM:165000
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Astigmatism, Scarring alopecia of scalp, Ectopia pupillae, Unilateral narrow palpebral fissure, C...	OMIM:618727
Erythrokeratodermia Variabilis Et Progressiva 3	Leukonychia, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Eryt...	OMIM:617525
Granular Corneal Dystrophy Type I	Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ...	ORPHA:98962
Cystinosis	Hypothyroidism, Corneal opacity, Portal hypertension	ORPHA:213
Onychotrichodysplasia And Neutropenia	Trichorrhexis nodosa, Hypoplastic fingernail, Chronic irritative conjunctivitis, Curly eyelashes,...	OMIM:258360
Mosaic Trisomy 9	Small nail, Corneal opacity, Asplenia, Cryptorchidism, Upslanted palpebral fissure	ORPHA:99776
Oligoarticular Juvenile Idiopathic Arthritis	Band keratopathy, Knee osteoarthritis, Arthritis, Uveitis, Rheumatoid arthritis, Cataract, Anteri...	ORPHA:85410
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Orthostatic hypotension, Hypotension, Dry skin, Adrenocorticotropic hormone d...	ORPHA:199299
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Pallor, Necrotizing enterocolitis, Conjunctival icterus	OMIM:606812
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Chalazion, Epicanthus, Pulmonary arterial hypertension	OMIM:613355
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	High anterior hairline, Orthostatic hypotension, Hyperkeratosis, Anisocoria, Hypohidrosis, Ptosis...	OMIM:615510
Chronic Graft Versus Host Disease	Recurrent corneal erosions, Nail dystrophy, Skin ulcer, Keratoconjunctivitis sicca, Erythema, Art...	ORPHA:99921
Dyssegmental Dysplasia, Silverman-Handmaker Type	Cataract, Cryptorchidism, Pterygium	OMIM:224410
Phace Syndrome	Retinal vascular malformation, Abnormality of the orbital region, Heterochromia iridis, Hypothyro...	ORPHA:42775
Apolipoprotein A-I Deficiency	Angina pectoris, Opacification of the corneal stroma, Xanthelasma	ORPHA:425
Acrofrontofacionasal Dysostosis 1	S-shaped palpebral fissures, Small nail, Long eyebrows, Iris atrophy, Long eyelashes, Ptosis, Wid...	OMIM:201180
Eales Disease	Ischemic stroke, Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vit...	ORPHA:40923
Dural Sinus Malformation	Cerebellar hemorrhage, Chemosis, Subarachnoid hemorrhage, Cerebral hemorrhage, Intracranial hemor...	ORPHA:97339
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Keratoconus, Ventricular escape rhythm, Arrhythmia, Prolonged P...	ORPHA:542306
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Skin ulcer, Cholelithiasis, Bacterial endocarditis, Spontaneous, recurrent epistaxis, Corneal opa...	ORPHA:2072
Hutchinson-Gilford Progeria Syndrome	Hypertension, Corneal opacity, Shallow orbits, Aortic valve stenosis, Nocturnal lagophthalmos, Ao...	ORPHA:740
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Pancreatitis, Corneal erosion, Entropion, Erythema, Conjunctivitis, ...	ORPHA:36426
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Lacrimation abnormality, Epicanthus, Low posterior hairline	ORPHA:2916
Lcat Deficiency	Corneal opacity	ORPHA:650
Schimke Immuno-Osseous Dysplasia	Congestive heart failure, Ischemic stroke, Abnormality of thyroid physiology, Pancreatitis, Minim...	ORPHA:1830
Mucopolysaccharidosis, Type Vi	Pulmonary insufficiency, Sinus tachycardia, Corneal opacity, Cardiomyopathy, Pulmonary arterial h...	OMIM:253200
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of the nail, Abnormal eyelash morphology, Abnormal eyelid morphology, Corneal opacity...	ORPHA:2556
Xeroderma Pigmentosum, Complementation Group C	Ectropion, Entropion, Cutaneous photosensitivity, Keratitis, Conjunctivitis, Telangiectasia	OMIM:278720
Xeroderma Pigmentosum, Complementation Group A	Ectropion, Entropion, Cutaneous photosensitivity, Keratitis, Conjunctivitis, Telangiectasia	OMIM:278700
Autoimmune Lymphoproliferative Syndrome, Type Iii	Mediastinal lymphadenopathy, Lymphadenopathy, Nephrotic syndrome, Hepatosplenomegaly, Splenomegal...	OMIM:615559
Mucopolysaccharidosis Type 7	Corneal opacity, Splenomegaly, Hepatitis	ORPHA:584
Amoebiasis Due To Free-Living Amoebae	Skin ulcer, Corneal ulceration, Sinusitis, Conjunctival hyperemia, Pustule, Arrhythmia, Pneumonia...	ORPHA:68
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:86893
Singleton-Merten Syndrome 2	Aortic valve stenosis, Hyperkeratosis, Psoriasiform lesion, Arrhythmia	OMIM:616298
Al-Gazali Syndrome	Recurrent pneumonia, Sclerocornea, Corneal opacity	OMIM:609465
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Corneal opacity, Megalocornea, Sparse scalp hair, Prominent scalp...	ORPHA:536471
Neurocardiofaciodigital Syndrome	Sparse eyebrow, Sclerocornea, Sparse hair, Cataract, Narrow palpebral fissure	OMIM:619869
Polyarteritis Nodosa	Skin ulcer, Hypertension, Cardiomyopathy, Pericarditis, Cutis marmorata, Raynaud phenomenon, Eryt...	ORPHA:767
Short Stature, Developmental Delay, And Congenital Heart Defects	Developmental cataract, Uveitis	OMIM:617044
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Palpebral edema, Prostatitis, Pancreatitis, Abnormality of the orbital ...	ORPHA:449563
Acrokeratosis Verruciformis Of Hopf	Leukonychia, Nail dystrophy, Epidermal acanthosis, Hyperkeratosis, Anonychia, Punctate palmoplant...	ORPHA:79151
Neu-Laxova Syndrome	Abnormal hair morphology, Pterygium, Abnormal eyelash morphology, Abnormal eyelid morphology, Abn...	ORPHA:2671
Caroli Disease	Jaundice, Cholangitis, Cholelithiasis, Conjunctival icterus, Portal hypertension, Splenomegaly	ORPHA:53035
Cogan Syndrome	Large vessel vasculitis, Aortic regurgitation, Inflammatory abnormality of the eye, Vasculitis, E...	ORPHA:1467
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Septo-Optic Dysplasia Spectrum	Hypohidrosis, Anterior pituitary hypoplasia, Cryptorchidism, Dry skin	ORPHA:3157
Roifman Syndrome	Lymphadenopathy, Noncompaction cardiomyopathy, Long palpebral fissure, Downslanted palpebral fiss...	OMIM:616651
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Porphyria, Congenital Erythropoietic	Jaundice, Loss of eyelashes, Cholelithiasis, Cutaneous photosensitivity, Corneal scarring, Absent...	OMIM:263700
Autosomal Recessive Multiple Pterygium Syndrome	Popliteal pterygium, Axillary pterygium, Multiple pterygia, Telecanthus, Pterygium, Abnormal eyel...	ORPHA:2990
Pseudohypoparathyroidism Type 1B	Decreased response to growth hormone stimulation test, Prolonged QT interval, Pseudohypoparathyro...	ORPHA:94089
Aplasia Cutis Congenita	Skin ulcer, Erythema	ORPHA:1114
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Telecanthus, Splenic cyst, Highly arched eyebrow, Tricuspid regurgitation, Retinal ...	OMIM:620371
Duane Retraction Syndrome	Short palpebral fissure, Aniridia, Blepharophimosis, Microcornea, Blepharospasm, Low posterior ha...	ORPHA:233
Combined Immunodeficiency Due To Dock8 Deficiency	Chronic otitis media, Skin ulcer, Recurrent bacterial skin infections, Atopic dermatitis, Recurre...	ORPHA:217390
Congenital Muscular Dystrophy With Cerebellar Involvement	Abnormality iris morphology, Cardiomyopathy, Megalocornea, Cataract	ORPHA:370959
Alpha-Mannosidosis, Infantile Form	Pneumonia, Astigmatism, Aortic regurgitation, Highly arched eyebrow, Corneal opacity, Hepatosplen...	ORPHA:309282
Acitretin/Etretinate Embryopathy	Bradycardia, Hypoplasia of the thymus, Antecubital pterygium, Epicanthus, Third degree atrioventr...	ORPHA:40366
Ophthalmomandibulomelic Dysplasia	Opacification of the corneal stroma, Megalocornea	OMIM:164900
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Conjunctival hyperemia, Hypertrophic cardiomyopathy	OMIM:619121
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Arthritis, Sterile arthritis, Cystic acne, Hepatosplenomegaly, Acne, Pyoderma gangrenosum, Colitis	OMIM:604416
Parkes Weber Syndrome	Scaling skin, Skin ulcer, Prominent superficial blood vessels, Abnormal lymphatic vessel morpholo...	ORPHA:90307
Pseudo-Torch Syndrome 1	Jaundice, Petechiae, Splenomegaly, Cataract, Opacification of the corneal stroma	OMIM:251290
Beta-Thalassemia Major	Skin ulcer, High-output congestive heart failure, Hypoparathyroidism, Jaundice, Hypothyroidism, P...	ORPHA:231214
Leishmaniasis	Skin ulcer, Lymphadenopathy, Rhinitis, Splenomegaly, Pallor	ORPHA:507
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Hallermann-Streiff Syndrome	Congestive heart failure, Telecanthus, Abnormality of hair texture, Uveitis, Hypothyroidism, Spar...	ORPHA:2108
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Sclerocornea, Iris coloboma	ORPHA:77298
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Short palpebral fissure, Telecanthus, Small nail, Corneal opacity, Synophrys, Thin eyebrow	OMIM:608670
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperparathyroidism, Conjunctival whitish salt-like deposits	OMIM:211900
Fetal Cytomegalovirus Syndrome	Jaundice, Hepatomegaly, Petechiae, Retinal hemorrhage, Splenomegaly, Conjugated hyperbilirubinemi...	ORPHA:294
Carpenter Syndrome	Abnormal cornea morphology, Cryptorchidism, Polysplenia	ORPHA:65759
Neonatal Marfan Syndrome	Iridodonesis, Megalocornea, Tricuspid regurgitation, Decreased testicular size, Cutis laxa, Ectop...	ORPHA:284979
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Atypical Werner Syndrome	Premature graying of hair, Hypertension, Aortic valve stenosis, White forelock, Pili torti, Ovari...	ORPHA:79474
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, Decreased lacrimation, Heterochromia iridis, Hypohidrosis, White forelock, White eye...	OMIM:609136
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Transketolase Deficiency	Cataract, Seborrheic dermatitis, Uveitis, Conjunctivitis	ORPHA:488618
Hereditary Amyloidosis With Primary Renal Involvement	Congestive heart failure, Gastrointestinal hemorrhage, Purpura, Abnormal lymph node morphology, D...	ORPHA:85450
Multiple Sulfatase Deficiency	Corneal opacity, Splenomegaly	OMIM:272200
Menkes Disease	Spontaneous hematomas, Gastrointestinal hemorrhage, Hypopigmentation of hair, Dry skin, Woolly ha...	ORPHA:565
Dyssegmental Dysplasia, Silverman-Handmaker Type	Cryptorchidism, Hirsutism, Developmental cataract, Pterygium	ORPHA:1865
Exudative Vitreoretinopathy 1	Vitreous hemorrhage, Retinal neovascularization	OMIM:133780
Axial Mesodermal Dysplasia Spectrum	Limbal dermoid, Abnormality of the spleen	ORPHA:1834
Rhabdoid Tumor	Hypertension, Hematuria, Lymphadenopathy, Internal hemorrhage	ORPHA:69077
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Decreased lacrimation, Telecanthus, Hypopigmentation of hair, Heteroch...	ORPHA:163746
Immunodeficiency 114, Folate-Responsive	Skin ulcer, Splenomegaly, Atopic dermatitis	OMIM:620603
De Sanctis-Cacchione Syndrome	Ectropion, Parakeratosis, Entropion, Cutaneous photosensitivity, Bilateral cryptorchidism, Kerati...	OMIM:278800
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Microphthalmia/Coloboma 12	Peters anomaly, Corneal opacity, Chorioretinal coloboma	OMIM:120200
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Weill-Marchesani Syndrome 2	Congestive heart failure, Iridodonesis, Astigmatism, Microspherophakia, Lens luxation, Shallow or...	OMIM:608328
Acute Adrenal Insufficiency	Orthostatic hypotension, Hypotension, Hypovolemia, Dry skin, Primary adrenal insufficiency, Decre...	ORPHA:95409
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Cheilitis, Skin ulcer, Periodontitis, Arthritis, Corneal opacity, Sparse sc...	ORPHA:534
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia, Pituitary hypothyroidism, Thyroid hypoplasia, Dry skin, Prolonged neonatal jaundice,...	ORPHA:90674
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Red ...	ORPHA:263479
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Nail dystrophy, Epiphora, Sparse hair	OMIM:616353
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism	ORPHA:54
Cockayne Syndrome Type 1	Decreased lacrimation, Tremor, Hypohidrosis, Conjunctivitis, Cataract, Cryptorchidism	ORPHA:90321
Ollier Disease	Skin ulcer, Lymphangioma	ORPHA:296
Chronic Mucocutaneous Candidiasis	Cheilitis, Skin ulcer, Abnormality of the nail, Skin rash, Hyperkeratosis, Broad nail, Abnormal f...	ORPHA:1334
Retinitis Pigmentosa	Posterior subcapsular cataract, Keratoconus, Abnormal testis morphology, Attenuation of retinal b...	ORPHA:791
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Elevated circulating creatine kinase concentration, Retinal hemorrhage	OMIM:615368
Carpenter Syndrome 1	Telecanthus, Microcornea, Pulmonic stenosis, Epicanthus, Opacification of the corneal stroma, Cry...	OMIM:201000
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Purpura, Skin ulcer, Erythema, Vascular skin abnormality, Vasculitis...	ORPHA:761
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Hirsutism, Corneal opacity	OMIM:259600
Autosomal Recessive Omodysplasia	Cryptorchidism, Pterygium	ORPHA:93329
Hamamy Syndrome	Abnormal number of hair whorls, Hypoparathyroidism, Telecanthus, Neck pterygia, Low posterior hai...	OMIM:611174
Acquired Hypertrichosis Lanuginosa	Abnormal eyelid morphology, Abnormal eyebrow morphology, Lymphadenopathy	ORPHA:2221
Addison Disease	Hypoparathyroidism, Orthostatic hypotension, Primary testicular failure, Hypotension, Dry skin, H...	ORPHA:85138
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy	OMIM:615513
Caroli Syndrome	Hematemesis, Jaundice, Pancreatitis, Melena, Conjunctival icterus, Cholangitis, Portal hypertensi...	ORPHA:480520
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Iris atrophy, Hypohidrosis, Ptosis, Anhidrosis	OMIM:146500
Silver-Russell Syndrome 3	Antecubital pterygium, Unilateral cryptorchidism	OMIM:616489
Idiopathic Aplastic Anemia	Gingival bleeding, Retinal hemorrhage, Bone marrow hypocellularity, Ecchymosis, Epistaxis	ORPHA:88
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Lymphadenopathy	OMIM:619220
Pgm3-Cdg	Chronic otitis media, Skin ulcer, Esophagitis, Atopic dermatitis, Eczematoid dermatitis, Chronic ...	ORPHA:443811
Corneal Dystrophy, Posterior Amorphous	Corneal dystrophy, Ectopia pupillae, Iris coloboma	OMIM:612868
Vitreoretinochoroidopathy	Vitreous hemorrhage, Retinal neovascularization	OMIM:193220
Frontofacionasal Dysplasia	S-shaped palpebral fissures, Telecanthus, Microcornea, Ptosis, Ankyloblepharon, Eyelid coloboma, ...	OMIM:229400
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi, Livedo reticularis	OMIM:611788
Roifman Syndrome	Lymphadenopathy, Noncompaction cardiomyopathy, Long palpebral fissure, Hepatosplenomegaly, Promin...	ORPHA:353298
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Opacification of the corneal stroma, Corneal opacity, Mitral regurgitation	OMIM:253010
Waardenburg Syndrome, Type 4C	Premature graying of hair, Lacrimal gland hypoplasia, Heterochromia iridis, White forelock, White...	OMIM:613266
Duodenal Atresia	Annular pancreas, Abnormality of the pancreas	ORPHA:1203
Pleural Mesothelioma	Lymphadenopathy, Abnormal cardiovascular system physiology	ORPHA:50251
Pancreatic Agenesis 1	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Reduced C-peptide level, Pancreatic apl...	OMIM:260370
Alzahrani-Kuwahara Syndrome	Cataract, Astigmatism, Dry skin, Eczematoid dermatitis	OMIM:619268
Atelis Syndrome 2	Short palpebral fissure, Supravalvar pulmonary stenosis, Pulmonic stenosis, Epicanthus, Vitreous ...	OMIM:620185
Infantile Myofibromatosis	Skin ulcer, Neoplasm of the pancreas, Abnormal hair morphology	ORPHA:2591
Biotinidase Deficiency	Seborrheic dermatitis, Skin rash, Splenomegaly, Conjunctivitis, Recurrent skin infections, Alopecia	OMIM:253260
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Hyperhidrosis, Prolonged QT interval, Abnormal pupil morphology, Arrhythmia	ORPHA:2151
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization	ORPHA:891
Bruck Syndrome	Pterygium	ORPHA:2771
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Subcutaneous hemorrhage, Purpura, Pulmonary embolism, Skin ulcer	ORPHA:743
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Alacrima, Lacrimal duct stenosis, Periorbital dermoid cyst, Conjunctivitis	OMIM:615560
Manitoba Oculotrichoanal Syndrome	Corneopalpebral synechiae, Cryptophthalmos, Abnormality of the hairline, Eyelid coloboma, Nasolac...	OMIM:248450
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	OMIM:300853
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Lymphadenopathy, Petechiae, Vasculitis, Chronic noninfectious lympha...	OMIM:603909
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Recurrent aphthous stomatitis, Lymphadenopathy, Recurrent pneumonia, Sp...	OMIM:150550
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus, Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Antecubital pterygium	OMIM:618469
Bruck Syndrome 2	Pterygium	OMIM:609220
Jacobsen Syndrome	Annular pancreas, Iris coloboma, Telecanthus, Microcornea, Abnormal eyelash morphology, Ptosis, C...	OMIM:147791
Crouzon Syndrome	Dysgerminoma, Shallow orbits, Keratitis, Conjunctivitis	OMIM:123500
Retinal Arteries, Tortuosity Of	Retinal hemorrhage	OMIM:180000
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Corneal opacity, Hypothyroidism, Downslanted palpebral fissures, Epicanthus...	ORPHA:1052
Bruck Syndrome 1	Pterygium	OMIM:259450
Immunodeficiency 64 With Lymphoproliferation	Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cervical lymphade...	OMIM:618534
Noonan Syndrome 1	Dry skin, Low posterior hairline, Synovitis, Pulmonic stenosis, Hypertrophic cardiomyopathy, Wool...	OMIM:163950
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Prolonged neonatal jaundice, Epicanthus, Brushfield spots, Cataract, Opacifi...	OMIM:214100
Peroxisome Biogenesis Disorder 5A (Zellweger)	Palpebral edema, Jaundice, Aortic regurgitation, Small nail, Hypoplastic nipples, Tricuspid regur...	OMIM:614866
Schimke Immunoosseous Dysplasia	Astigmatism, Hypertension, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hyper...	OMIM:242900
Trichinellosis	Skin rash, Retinal hemorrhage, Anisocoria, Conjunctival hyperemia, Abnormal uvea morphology, Cent...	ORPHA:863
Acute Promyelocytic Leukemia	Abnormal bleeding, Purpura, Hematuria, Lymphadenopathy, Petechiae, Gingival bleeding, Epistaxis, ...	ORPHA:520
Alpha-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100025
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten...	OMIM:208540
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Astigmatism, Aortic regurgitation, Anterior pituitary hypoplasia, Corneal opac...	ORPHA:464306
Ectopia Lentis Et Pupillae	Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C...	OMIM:225200
Systemic Sclerosis	Myocarditis, Nail bed telangiectasia, Acral ulceration, Alopecia, Gastrointestinal telangiectasia...	ORPHA:90291
Stromme Syndrome	Accessory spleen, Microcornea, Sclerocornea, Cataract, Peters anomaly, Retinal vascular tortuosit...	OMIM:243605
Phaver Syndrome	Downslanted palpebral fissures, Epicanthus, Pterygium	ORPHA:2876
Immunodeficiency 76	Splenomegaly, Lymphadenopathy	OMIM:619164
Congenital Disorder Of Deglycosylation 1	Corneal ulceration, Corneal opacity, Anhidrosis, Ptosis, Hyperhidrosis	OMIM:615273
Uveal Melanoma	Vitreous hemorrhage	ORPHA:39044
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Hypocalcemia, Sialadenitis, Abnormality of the ocular a...	ORPHA:64744
Vulvovaginal Gingival Syndrome	Epidermal acanthosis, Parakeratosis, Erythema, Ridged nail	ORPHA:83453
Lathosterolosis	Microcornea, Ptosis, Downslanted palpebral fissures, Epicanthus, Cataract, Opacification of the c...	ORPHA:46059
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, Absence of lymph node germinal center, Absent tonsils	ORPHA:277
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Mosaic Trisomy 8	Decreased testicular size, Cryptorchidism, Corneal opacity	ORPHA:96061
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Dyskeratosis Congenita, Digenic	Bilateral ptosis, Nail dystrophy, Epiphora, Sparse eyelashes, Decreased testicular size, Alopecia	OMIM:620040
Fetal Akinesia Deformation Sequence	Cryptorchidism, Pterygium	ORPHA:994
Alg11-Cdg	Dry skin	ORPHA:280071
Localized Scleroderma	Vasculitis, Arthritis, Patchy alopecia, Esophagitis, Hashimoto thyroiditis, Raynaud phenomenon, A...	ORPHA:90289
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Lens subluxation, Corneal opacity, Ectopia pupillae, Recurrent otitis media	OMIM:608940
Larsen Syndrome	Short nail, Cryptorchidism, Corneal opacity, Shallow orbits	OMIM:150250
Lethal Acantholytic Erosive Disorder	Absent hair, Absent eyelashes, Cardiomyopathy, Hypovolemic shock, Absent fingernail, Absent eyebr...	ORPHA:158687
Refractory Anemia With Excess Blasts	Abnormal bleeding, Abnormal circulating albumin concentration, Abnormal circulating protein conce...	ORPHA:86839
Juvenile Glaucoma	Abnormality iris morphology, Abnormal anterior chamber morphology, Retinal vein occlusion, Retina...	ORPHA:98977
Wolf-Hirschhorn Syndrome	Chronic otitis media, High anterior hairline, Highly arched eyebrow, Megalocornea, Low posterior ...	ORPHA:280
Hypercholesterolemia, Familial, 3	Corneal arcus, Xanthelasma	OMIM:603776
Deafness-Lymphedema-Leukemia Syndrome	Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Bruising susceptibility, Intracranial...	ORPHA:3226
Achalasia-Addisonianism-Alacrima Syndrome	Adrenocorticotropin receptor defect, Anisocoria, Decreased circulating cortisol level, Decreased ...	OMIM:231550
Fraser Syndrome 1	Upper eyelid coloboma, Small nail, Absent eyelashes, Corneal opacity, Absent eyebrow, Extension o...	OMIM:219000
Craniofrontonasal Syndrome	Breast hypoplasia, Axillary pterygium, Telecanthus, Ridged nail, Unilateral breast hypoplasia, Lo...	OMIM:304110
Mucopolysaccharidosis Type 6	Chronic otitis media, Opacification of the corneal stroma, Sinusitis, Splenomegaly	ORPHA:583
Schnitzler Syndrome	Vasculitis, Splenomegaly, Lymphadenopathy	ORPHA:37748
Neuroocular Syndrome	Small nail, Highly arched eyebrow, Stellate iris, Nasolacrimal duct obstruction, Brittle hair, Do...	OMIM:619539
Catastrophic Antiphospholipid Syndrome	Myocarditis, Myocardial infarction, Skin ulcer, Angina pectoris, Arthritis, Retinal arterial occl...	ORPHA:464343
Helix Syndrome	Dry skin, Hypohidrosis, Anhidrosis, Hyperparathyroidism, Xerostomia	OMIM:617671
Mucolipidosis Ii Alpha/Beta	Congestive heart failure, Palpebral edema, Recurrent otitis media, Aortic regurgitation, Brittle ...	OMIM:252500
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Retinoblastoma	Hyphema, Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage, Pineoblastoma	ORPHA:790
Hypercholesterolemia, Familial, 1	Corneal arcus, Xanthelasma	OMIM:143890
Multiple Pterygium Syndrome, Escobar Variant	Popliteal pterygium, Axillary pterygium, Bilateral ptosis, Pterygium, Neck pterygia, Hypoplastic ...	OMIM:265000
Beta-Thalassemia Intermedia	Skin ulcer, Hypoparathyroidism, High-output congestive heart failure, Cholelithiasis, Jaundice, P...	ORPHA:231222
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Downslanted palpebral fissures, Mitral regurgitation, Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Lens subluxation, Corneal opacity, Ectopia pupillae	ORPHA:85167
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Hereditary Spherocytosis	Skin ulcer, Jaundice, Cholelithiasis, Restrictive cardiomyopathy, Splenomegaly, Gout, Pallor, Mac...	ORPHA:822
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormal eyelid morphology, Hypertension, Corneal opacity, Heterochromia ...	ORPHA:636
Multiple Pterygium Syndrome, X-Linked	Multiple pterygia, Epicanthus	OMIM:312150
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Purpura, Recurrent otitis media, Panniculitis, Skin ulcer, Lymphadenopathy, Vasculitis, Skin rash...	OMIM:615688
Revesz Syndrome	Nail dystrophy, Megalocornea, Nail pits, Ridged fingernail, Sparse hair, Leukocoria, Fine hair	OMIM:268130
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Reactive Arthritis	Dystrophic fingernails, Aortic regurgitation, Recurrent aphthous stomatitis, Abnormality of the n...	ORPHA:29207
Alkaptonuria	Arthritis, Brown pigmentation of the conjunctiva	OMIM:203500
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Anhidrosis, Skin ulcer, Osteomyelitis	OMIM:613640
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Absent...	OMIM:615710
Fryns Syndrome	Hypoplastic fingernail, Cryptorchidism, Corneal opacity	ORPHA:2059
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Abnormality of the nail, Generalized hirsutism, Cryptorchidism, Ankyloblepharon	ORPHA:1300
Immunodeficiency 27A	Lymphadenopathy, Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly	OMIM:209950
Lig4 Syndrome	Lymphadenopathy, Telecanthus, Hypoplasia of penis, Telangiectasia of the skin, Epicanthus, Upslan...	ORPHA:99812
Intellectual Disability-Alacrima-Achalasia Syndrome	Alacrima, Anisocoria	ORPHA:289483
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Iris coloboma	OMIM:169550
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Decreased response to growth hormone stimulation test, Prostatitis, Pyoderma, Pneumonia, Recurren...	OMIM:307200
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Ectodermal Dysplasia/Short Stature Syndrome	Nail dystrophy, Epidermal acanthosis, Hyperkeratosis, Anonychia, Palmoplantar keratoderma	OMIM:616029
Diffuse Cutaneous Systemic Sclerosis	Congestive heart failure, Skin ulcer, Arthritis, Hypertensive crisis, Pulmonary arterial hyperten...	ORPHA:220393
Knobloch Syndrome 1	Iris transillumination defect, Alopecia of scalp, Telecanthus, Band keratopathy, Chorioretinal at...	OMIM:267750
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hepatosplenomegaly, Lymphadenopathy	OMIM:613101
Boutonneuse Fever	Lymphadenopathy, Petechiae, Vasculitis, Renal insufficiency, Cervical lymphadenopathy	ORPHA:83313
Proteasome-Associated Autoinflammatory Syndrome 3	Panniculitis, Lymphadenopathy, Myositis, Arthritis, Skin rash, Sinusitis, Splenomegaly, Conjuncti...	OMIM:617591
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Hypertension, Ectopia pupillae	ORPHA:1885
Livedoid Vasculopathy	Ischemic stroke, Skin ulcer, Macular purpura, Hypertension, Superficial dermal perivascular infla...	ORPHA:542643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Corneal opacity, Megalocornea, Cryptorchidism, Cataract, Buphthalmos, Peters anomaly	OMIM:236670
Pseudoxanthoma Elasticum	Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,...	OMIM:264800
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Angiokeratoma corporis diffusum, Telangiectasia of the oral mucosa, Lip telangiectasia, Hyperkera...	ORPHA:79280
Nocardiosis	Scleritis, Thyroiditis, Chorioretinitis, Lymphadenitis, Pericarditis, Keratitis, Dacryocystitis, ...	ORPHA:31204
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Hypoparathyroidism, Pulmonic stenosis, Has...	OMIM:618223
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent corneal erosions, Alacrima, Episodic hyperhidrosis, Corneal ulceration	OMIM:223900
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
Chronic Granulomatous Disease	Skin ulcer, Mediastinal lymphadenopathy, Inflammatory abnormality of the eye, Cutaneous photosens...	ORPHA:379
Waldenström Macroglobulinemia	Congestive heart failure, Gastrointestinal hemorrhage, Purpura, Lymphadenopathy, Vasculitis, Ging...	ORPHA:33226
Stuve-Wiedemann Syndrome 1	Short palpebral fissure, Premature skin wrinkling, Pulmonary arterial hypertension, Hyperhidrosis...	OMIM:601559
Scrub Typhus	Myocarditis, Abnormal bleeding, Lymphadenopathy, Hypotension, Splenomegaly, Renal insufficiency	ORPHA:83317
Primary Myelofibrosis	Abnormal bleeding, Purpura, Lymphadenopathy, Petechiae, Portal hypertension, Ecchymosis, Splenome...	ORPHA:824
Uremic Pruritus	Generalized abnormality of skin, Recurrent skin infections, Inflammatory abnormality of the skin,...	ORPHA:94059
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ectropion, Nail dystrophy, Pterygium, Recurrent skin infections, Urinary bladder inflammation	ORPHA:79403
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Follicular hyperplasia, Lymphadenopathy	OMIM:619846
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Congestive heart failure, Recurrent otitis media, Panniculitis, Erythe...	OMIM:256040
Hypercholesterolemia, Familial, 2	Corneal arcus, Xanthelasma	OMIM:144010
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Purpura, Mediastinal lymphadenopathy, Lymphadenopathy, ...	ORPHA:809
Hyperostosis Cranialis Interna	Epiphora	OMIM:144755
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cutaneous photosensitivity, Prematurely aged appearance, Skin rash, Dry skin, Urticaria	ORPHA:220295
Wiedemann-Rautenstrauch Syndrome	Corneal opacity, Pulmonic stenosis, Aplasia/Hypoplasia of the nails, Sparse hair, Decreased respo...	ORPHA:3455
Immunodeficiency 91 And Hyperinflammation	Hemolytic-uremic syndrome, Lymphadenopathy, Nephrotic syndrome, Hepatosplenomegaly, Membranoproli...	OMIM:619644
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Retinal hemorrhage, Vasculitis in the skin, Punctate vasculitis skin...	OMIM:192315
Infantile Systemic Hyalinosis	Skin ulcer, Urticaria, Telangiectasia of the skin, Aplasia/Hypoplasia of the thymus, Polycystic o...	ORPHA:2176
Acquired Purpura Fulminans	Macular purpura, Skin rash, Internal hemorrhage, Intracranial hemorrhage, Acrocyanosis, Pyoderma ...	ORPHA:49566
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Anter...	ORPHA:227990
Multiple Pterygium Syndrome, Lethal Type	Multiple pterygia, Epicanthus	OMIM:253290
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatitis, Pancreatic calcification	OMIM:167800
Miller Fisher Syndrome	Mydriasis, Ptosis, Anisocoria	ORPHA:98919
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Anter...	ORPHA:227982
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Congenital Fibrosis Of Extraocular Muscles	Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atrophy, Anisocoria, Pto...	ORPHA:45358
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperkeratosis, Hypertension, Sparse scalp hair, Dry skin, Sparse eyelashes, Prolonged neonatal j...	OMIM:210710
Cinca Syndrome	Purpura, Lymphadenopathy, Inflammatory abnormality of the eye, Urticaria, Splenomegaly, Retrobulb...	ORPHA:1451
Nail-Patella Syndrome	High anterior hairline, Toenail dysplasia, Abnormality of the nail, Arthritis, Antecubital pteryg...	ORPHA:2614
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Astigmatism, Telecanthus, Ptosis, Alacrima, Hooded upper eyelid	OMIM:618548
Galloway-Mowat Syndrome 1	Small nail, Hypoplasia of the iris, Ptosis, Epicanthus, Cataract, Opacification of the corneal st...	OMIM:251300
Pyoderma Gangrenosum	Skin ulcer, Myositis, Rheumatoid arthritis, Inflammation of the large intestine, Pustule, Skin ve...	ORPHA:48104
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma, Hip osteoarthritis	OMIM:313400
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Telecanthus, Dry skin, Downslanted palpebral fissures, Recurrent pneumonia, Developmental catarac...	ORPHA:99646
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage	OMIM:264420
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Episodic hyperhidrosis, Acral ulceration, Osteomyelitis	OMIM:613115
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Calciphylaxis	Secondary hyperparathyroidism, Skin ulcer, Cutis marmorata	ORPHA:280062
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Chronic rhinitis, Bronchiectasis, Asplenia, Pneumonia, Abnormal cornea morp...	OMIM:244400
Nephroblastoma	Hypertension, Hematuria, Lymphadenopathy	ORPHA:654
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Popliteal pterygium, Downslanted palpebral fissures	OMIM:119800
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct...	OMIM:601346
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Meige Disease	Skin ulcer, Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Lymph node hypo...	ORPHA:90186
Camptodactyly Syndrome, Guadalajara Type 3	Thick eyebrow, Symblepharon, Telecanthus	ORPHA:488434
Vascular Ehlers-Danlos Syndrome	Redundant skin, Hypertension, Excessive wrinkled skin, Keratoconus, Transient ischemic attack, Cr...	ORPHA:286
Pancreas, Annular	Annular pancreas	OMIM:167750
Annular Pancreas	Annular pancreas	ORPHA:675
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Panniculitis, Erythema, Cystic acne, Dilated cardiomyopathy, Pyoderma ga...	OMIM:608068
Dermochondrocorneal Dystrophy	Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract	OMIM:221800
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Alacrima	OMIM:240000
Thrombocytopenia-Absent Radius Syndrome	Seborrheic dermatitis, Corneal opacity, Ptosis, Hepatosplenomegaly, Cataract, Pancreatic cysts	OMIM:274000
Tropical Pancreatitis	Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom...	ORPHA:103918
Leukocyte Adhesion Deficiency	Perianal abscess, Nail dystrophy, Chronic oral candidiasis, Severe periodontitis, Recurrent aphth...	ORPHA:2968
Glycogen Storage Disease Ib	Xanthelasma, Hepatomegaly, Pancreatitis, Hyperuricemia, Hypertension, Hyperlipidemia, Hepatocellu...	OMIM:232220
Mosaic Trisomy 1	Congenital bilateral ptosis, Hypoplastic thumbnail, Small nail, Downslanted palpebral fissures, O...	ORPHA:1692
Immunodeficiency 52	Lymphadenopathy, Splenomegaly	OMIM:617514
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Cutaneous photosensitivity, Highly arched eyebrow, Anisocoria, Epicanthus, Heart murmur, Narrow p...	OMIM:618653
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Pterygium	OMIM:225790
Immunodeficiency 55	Recurrent skin infections, Dry skin, Lymphadenopathy, Eczematoid dermatitis	OMIM:617827
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma, Patchy palmoplantar hyperkeratosis, Epidermal acanthosis, Generalized hyperkeratosis	OMIM:133200
Cockayne Syndrome	Dry hair, Decreased lacrimation, Corneal ulceration, Band keratopathy, Abnormal cornea morphology...	ORPHA:191
Antiphospholipid Syndrome, Familial	Iritis, Retinal vasculitis, Keratitis, Central retinal artery occlusion, Scleritis	OMIM:107320
Spondyloepiphyseal Dysplasia, Maroteaux Type	Opacification of the corneal stroma	OMIM:184095
Lassa Fever	Jaundice, Shock, Conjunctivitis	ORPHA:99824
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy	OMIM:212050
Familial Multiple Nevi Flammei	Skin ulcer, Pulmonary embolism, Intracranial hemorrhage, Arrhythmia	ORPHA:624
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Lymphadenopathy, Vesicoureteral reflux, Cardiomyopathy, Lymphadenitis, ...	OMIM:615895
American Trypanosomiasis	Myocarditis, Congestive heart failure, Lymphadenopathy, Cardiomyopathy, Splenomegaly, Arrhythmia	ORPHA:3386
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Popliteal pterygium, Multiple pterygia, Ptosis, Downslanted palpebral fissures, Antecubital ptery...	OMIM:178110
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Astigmatism, Aortic regurgitation, Corneal opacity, Aortic valve stenosis, Posterior pituitary hy...	ORPHA:464311
Carcinoid Syndrome	Epiphora	ORPHA:100093
Mucopolysaccharidosis Type 2, Severe Form	Arthritis, Hypertension, Corneal opacity, Cardiomyopathy, Abnormal uvea morphology, Arrhythmia, E...	ORPHA:217085
Activated Pi3K-Delta Syndrome	Lymphadenopathy, Splenomegaly, Recurrent tonsillitis	ORPHA:397596
Macular Degeneration, Age-Related, 1	Macular hemorrhage	OMIM:603075
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Griscelli Syndrome	Lymphadenopathy, Abnormal eyelash morphology, Bone marrow hypocellularity, Abnormal eyebrow morph...	ORPHA:381
Cone-Rod Dystrophy 10	Epiphora	OMIM:610283
Cushing Disease	Recurrent cutaneous fungal infections, Purpura, Skin ulcer, Hypertension, Hirsutism, Sparse scalp...	ORPHA:96253
Late-Onset Retinal Degeneration	Iris transillumination defect, Choroidal neovascularization, Chorioretinal atrophy, Iris atrophy,...	ORPHA:67042
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Thick hair, Telecanthus, Tricuspid regurgitation, Pulmonary arterial hy...	ORPHA:505248
Mucopolysaccharidosis Type 2, Attenuated Form	Arthritis, Hypertension, Corneal opacity, Cardiomyopathy, Abnormal uvea morphology, Arrhythmia, E...	ORPHA:217093
Van Den Ende-Gupta Syndrome	Abnormal eyebrow morphology, Sclerocornea, Blepharophimosis	OMIM:600920
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Cutaneous photosensitivity, Abnormal eyelash morphology, Ptosis, Downsl...	ORPHA:818
Griscelli Syndrome Type 2	Petechiae, Splenomegaly, Lymphadenopathy	ORPHA:79477
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy, Intestinal bleeding	ORPHA:424019
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy	OMIM:618987
Mucolipidosis Iii Gamma	Aortic valve stenosis, Opacification of the corneal stroma, Aortic regurgitation	OMIM:252605
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia, Thyroid hypoplasia, Dry skin, Congenital hypothyroidism, Hypothyroidism, Decreased c...	OMIM:218700
Cold Agglutinin Disease	Splenomegaly, Abnormal urinary color, Lymphadenopathy	ORPHA:56425
Ichthyosis, Congenital, Autosomal Recessive 8	Hyperkeratosis, Epidermal acanthosis, Orthokeratosis, Erythema	OMIM:613943
Congenital Toxoplasmosis	Lymphadenopathy	ORPHA:858
Peters Plus Syndrome	Short palpebral fissure, Anterior hypopituitarism, Microcornea, Corneal opacity, Congenital hypot...	ORPHA:709
Axenfeld-Rieger Syndrome, Type 1	Decreased response to growth hormone stimulation test, Polycoria, Aniridia, Microcornea, Megaloco...	OMIM:180500
Chronic Actinic Dermatitis	Epidermal acanthosis, Late onset atopic dermatitis, Cutaneous photosensitivity, Eczematoid dermat...	ORPHA:330064
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
Infantile Digital Fibromatosis	Hyperkeratosis, Epidermal acanthosis, Parakeratosis	ORPHA:199267
Digeorge Syndrome	Short palpebral fissure, Recurrent otitis media, Cholelithiasis, Seborrheic dermatitis, Hypoplasi...	OMIM:188400
Meckel Syndrome	Abnormal chorioretinal morphology, Accessory spleen, Microcornea, Cryptorchidism, Asplenia, Scler...	ORPHA:564
Granulomatosis With Polyangiitis	Chronic otitis media, Gastrointestinal hemorrhage, Prostatitis, Pancreatitis, Purpura, Skin ulcer...	ORPHA:900
Punctate Palmoplantar Keratoderma Type 1	Epidermal acanthosis, Nail dystrophy, Palmoplantar hyperkeratosis, Abnormal epidermal morphology,...	ORPHA:79501
Huriez Syndrome	Nail dystrophy, Congenital palmoplantar hyperkeratosis, Small nail, Epidermal acanthosis	OMIM:181600
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Lymphadenopathy, Splenomegaly, Glomerulonephritis	OMIM:619375
Immunodeficiency 105	Absence of lymph node germinal center, Hepatosplenomegaly	OMIM:619924
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Splenomegaly	OMIM:611762
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Acrocyanosis, Ptosis, Epistaxis, Raynaud phenomenon, Osteoarthritis, Arrhythmia, Epi...	ORPHA:285
Cone-Rod Dystrophy 8	Epiphora	OMIM:605549
Avian Influenza	Congestive heart failure, Myelitis, Conjunctivitis, Pneumonia, Hepatitis, Infectious encephalitis	ORPHA:454836
Ehlers-Danlos Syndrome, Vascular Type	Alopecia of scalp, Dermal translucency, Periodontitis, Arterial rupture, Keratoconus, Fragile ski...	OMIM:130050
Castleman Disease	Hematuria, Mediastinal lymphadenopathy, Lymphadenopathy, Restrictive cardiomyopathy, Ureteral obs...	ORPHA:160
Familial Keratoacanthoma	Hyperkeratosis, Adenoma sebaceum, Skin ulcer	ORPHA:493
Legionnaires Disease	Myocarditis, Hematuria, Lymphadenopathy, Hypotension, Pericarditis, Bone marrow hypocellularity, ...	ORPHA:549
Thyroid Ectopia	Jaundice, Dry skin, Hypothyroidism, Lingual thyroid, Ectopic thyroid	ORPHA:95712
Lacrimoauriculodentodigital Syndrome 1	Recurrent corneal erosions, Lacrimal gland aplasia, Hypoplasia of the lacrimal punctum, Absence o...	OMIM:149730
Biotinidase Deficiency	Alopecia, Skin rash, Eczematoid dermatitis, Conjunctivitis	ORPHA:79241
Williams Syndrome	Chronic otitis media, Redundant skin, Hypertension, Corneal opacity, Cerebral ischemia, Pulmonic ...	ORPHA:904
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Mediastinal lymphadenopathy, Lymphadenopathy, Right ventricul...	ORPHA:199241
White Sponge Nevus 2	Epidermal acanthosis, Hyperparakeratosis	OMIM:615785
Meckel Syndrome 12	Antecubital pterygium	OMIM:616258
Yunis-Varon Syndrome	Redundant neck skin, Hypertension, Cardiomyopathy, Sparse scalp hair, Pulmonary arterial hyperten...	ORPHA:3472
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Panniculitis, Hepatosplenomegaly	ORPHA:86884
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Epicanthus, Hepatic fibrosis, Pancreatic fibrosis, Upslanted palpebral fissure, Pol...	OMIM:200995
Camptodactyly Syndrome, Guadalajara, Type Iii	Symblepharon, Telecanthus	OMIM:611929
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Tremor, Athetosis, Dystonia, Cataract, Alacrima	OMIM:615356
Lymphoproliferative Syndrome 2	EBV encephalitis, Lymphadenopathy, Recurrent pneumonia, Hepatosplenomegaly, Splenomegaly, Uveitis	OMIM:615122
Norrie Disease	Abnormal chorioretinal morphology, Aplasia/Hypoplasia of the lens, Corneal opacity, Hypoplasia of...	ORPHA:649
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis, Palmar hyperhidrosis, Palmoplantar hyperkeratosis, Hyperkeratotic papule, O...	ORPHA:38
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux	Alacrima	OMIM:608088
Gaucher Disease	Cholelithiasis, Corneal opacity, Splenic infarction, Pulmonary arterial hypertension, Splenic rup...	ORPHA:355
Bone Marrow Failure Syndrome 3	Hyperechogenic pancreas, Downslanted palpebral fissures, Exocrine pancreatic insufficiency, Epica...	OMIM:617052
Cinca Syndrome	Lymphadenopathy, Arthritis, Skin rash, Hepatosplenomegaly, Uveitis	OMIM:607115
Sweet Syndrome	Small vessel vasculitis, Panniculitis, Myositis, Predominantly dermal neutrophilic infiltrate, Ol...	ORPHA:3243
Combined Immunodeficiency Due To Zap70 Deficiency	Abnormal lymph node morphology, Lymphadenopathy, Lymphadenitis, Nephrotic syndrome, Hepatosplenom...	ORPHA:911
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal salivary gland morphology, Mediastinal lymphadenopathy, Arthri...	OMIM:181000
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Lymphadenopathy, Hypotension, Portal hypertension, Hepatosplenomegal...	ORPHA:98850
Feingold Syndrome	Short palpebral fissure, Annular pancreas, Abnormality of the spleen	ORPHA:1305
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma, Epidermal acanthosis, Palmoplantar keratoderma	OMIM:615022
Bloom Syndrome	Cheilitis, Recurrent tonsillitis, Cutaneous photosensitivity, Skin rash, Patchy alopecia, Uveitis...	ORPHA:125
Oculotrichoanal Syndrome	Cryptophthalmos, Abnormal hair pattern, Upper eyelid coloboma, Nasolacrimal duct obstruction	ORPHA:2717
Autosomal Dominant Severe Congenital Neutropenia	Recurrent aphthous stomatitis, Periodontitis, Rhinitis, Pneumonia, Recurrent skin infections, Pyo...	ORPHA:486
Trisomy 8P	Annular pancreas, Astigmatism, Decreased lacrimation, Heterochromia iridis, Low posterior hairlin...	ORPHA:264450
Plasminogen Deficiency, Type I	Nephritis, Periodontitis, Conjunctivitis	OMIM:217090
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Restrictive cardiomyopathy, Retinal h...	ORPHA:758
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Vasculitis, Splenomegaly, Follicular hyperplasia	OMIM:601859
Neuroendocrine Tumor Of The Colon	Melena, Hypotension, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Facial telan...	ORPHA:100080
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Immunodeficiency 54	Lymphadenopathy, Splenomegaly	OMIM:609981
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Cardiomyopathy, Hyperopic astigmatism, Severely reduced left ventricular ej...	OMIM:252600
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology, Intracranial hemorrhage	ORPHA:398189
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Lymphadenopathy, Purpura	ORPHA:343
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Sclerocornea, Arrhythmia, Cataract, Peters anomaly, Junctional ectop...	OMIM:309801
Neuroendocrine Tumor Of The Rectum	Melena, Hypotension, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Facial telan...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Melena, Hypotension, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Facial telan...	ORPHA:100082
Glucocorticoid Deficiency 2	Alacrima, Decreased circulating cortisol level, Bilateral cryptorchidism	OMIM:607398
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy	ORPHA:98848
Ulnar Hemimelia	Antecubital pterygium, Osteoarthritis	ORPHA:93320
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Splenomegaly, Lymphadenopathy	ORPHA:85414
Whipple Disease	Myocarditis, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Myositis, Arthritis, Hypot...	ORPHA:3452
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Lymphadenopathy	OMIM:618495
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Purpura, Jaundice, Congenital hydrocele, Arthritis, Parotitis, Atopic de...	OMIM:620376
Matthew-Wood Syndrome	Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology	ORPHA:2470
Agammaglobulinemia, X-Linked	Prostatitis, Pyoderma, Recurrent otitis media, Enteroviral hepatitis, Bronchiectasis, Recurrent s...	OMIM:300755
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Hypertension, Corneal opacity, Cardiomyopathy, Enlarged tonsils, Splenomegaly...	ORPHA:580
Cutis Marmorata Telangiectatica Congenita	Cutis marmorata, Hypertension, Telangiectasia, Leukocoria	OMIM:219250
Mucopolysaccharidosis, Type Iva	Opacification of the corneal stroma, Recurrent pneumonia	OMIM:253000
Fryns Syndrome	Facial hirsutism, Small nail, Anonychia, Ectopic pancreatic tissue, Opacification of the corneal ...	OMIM:229850
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Nephrotic syndrome, Hepatosplenomegaly, Sp...	OMIM:618935
Johanson-Blizzard Syndrome	Frontal upsweep of hair, Conjunctival icterus, Primary hypothyroidism, Abnormality of the nail, H...	OMIM:243800
Malakoplakia	Skin ulcer, Skin rash, Inflammatory abnormality of the skin, Orchitis, Follicular hyperplasia, Ur...	ORPHA:556
Sarcoidosis, Susceptibility To, 2	Mediastinal lymphadenopathy, Pulmonary arterial hypertension, Bronchiectasis, Splenomegaly, Eryth...	OMIM:612387
Pancreatic Agenesis 2	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia	OMIM:615935
Charge Syndrome	Anterior hypopituitarism, Highly arched eyebrow, Ptosis, Epicanthus, Eyelid coloboma, Lacrimation...	ORPHA:138
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Recurrent corneal erosions, Jaundice, Acral ulceration, Corneal ulceration, Corneal scarring, Ost...	OMIM:256810
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Broad eyebrow, Highly arched eye...	ORPHA:261552
Tibial Aplasia-Ectrodactyly Syndrome	Popliteal pterygium	ORPHA:3329
Popliteal Pterygium Syndrome	Popliteal pterygium, Pyramidal skinfold extending from the base to the top of the nails, Intercru...	OMIM:119500
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Corneal crystals	OMIM:210370
Acrokeratosis Verruciformis	Epidermal acanthosis, Ridged nail, Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acanthol...	OMIM:101900
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Aortic regurgitation, Abnormality iris morphology, Hypertension, Transient ische...	ORPHA:91387
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Alacrima, Hyperhidrosis, Corneal scarring	OMIM:614653
Pseudoxanthoma Elasticum, Forme Fruste	Angina pectoris, Gastrointestinal hemorrhage, Cerebral hemorrhage, Retinal hemorrhage	OMIM:177850
Deeah Syndrome	Short palpebral fissure, Decreased response to growth hormone stimulation test, Anterior pituitar...	OMIM:619004
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Cowden Syndrome	Adenoma sebaceum, Generalized hyperkeratosis, Palmoplantar keratoderma, Conjunctival hamartoma, E...	ORPHA:201
Familial Hemophagocytic Lymphohistiocytosis	Purpura, Lymphadenopathy, Petechiae, Ecchymosis, Abnormal renal physiology, Splenomegaly, Bruisin...	ORPHA:540
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morp...	ORPHA:449432
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Pancreatic hypopla...	OMIM:610199
Feingold Syndrome 1	Short palpebral fissure, Annular pancreas, Accessory spleen, Tricuspid stenosis, Asplenia, Epican...	OMIM:164280
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria	OMIM:619649
Lymphoproliferative Syndrome, X-Linked, 1	Vasculitis, Splenomegaly, Lymphadenopathy	OMIM:308240
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas...	ORPHA:456312
Neurooculorenal Syndrome	Highly arched eyebrow, Iris atrophy, Central hypothyroidism, Decreased circulating cortisol level...	OMIM:620305
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension, Dry skin, ST segm...	ORPHA:466650
Intellectual Developmental Disorder, Autosomal Dominant 73	Short palpebral fissure, Axillary pterygium, Recurrent otitis media, Highly arched eyebrow, Synop...	OMIM:620450
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Corneal opacity, Shallow orbits, Downslanted palpebral fissures, Sparse hair, E...	OMIM:268300
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Absent eyelashes, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Epicanthus,...	OMIM:268400
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Epidermal acanthosis, Parakeratosis, Small nail, Hyperkeratosis, Thyroid hypoplasia, Orthokeratos...	OMIM:308050
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pulmonary insufficiency, Jaundice, Polycystic liver disease, Bile duct proliferation, Conjugated ...	OMIM:208500
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Epidermal acanthosis, Stomatitis, Skin rash, Hyperkeratosis, Pustule, Splenomegaly, Osteomyelitis	OMIM:612852
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Hypoparathyroidism, Hypokale...	ORPHA:699
Retinitis Pigmentosa 97	Iris atrophy	OMIM:620422
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Epidermal acanthosis, Parakeratosis, Cholelithiasis, Seborrheic dermatitis, Pancreatic hypoplasia...	ORPHA:83617
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Prolonged QT interval, Reduced circulating...	ORPHA:79444
Stüve-Wiedemann Syndrome	Hypohidrosis, Hypothyroidism, Hyperhidrosis, Lacrimation abnormality, Ectopic thyroid	ORPHA:3206
Neuroblastoma	Abnormal bleeding, Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, ...	ORPHA:635
Bohring-Opitz Syndrome	Upslanted palpebral fissure, Hyperechogenic pancreas, Supernumerary nipple, Epicanthus	OMIM:605039
Microphthalmia, Syndromic 3	Cataract, Anterior pituitary hypoplasia, Cryptorchidism, Sclerocornea	OMIM:206900
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal nasolacrimal system morphology, Posterior ...	ORPHA:52417
Immunodeficiency 7	Splenomegaly, Lymphadenopathy	OMIM:615387
Carney Triad	Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Lymphadenopathy, Hypertension, Arrhythm...	ORPHA:139411
Listeriosis	Myocarditis, Congestive heart failure, Jaundice, Pyelonephritis, Arteritis, Splenic abscess, Peri...	ORPHA:533
Simple Cryoglobulinemia	Congestive heart failure, Gastrointestinal hemorrhage, Purpura, Acral ulceration, Vascular skin a...	ORPHA:91139
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Prematurely aged appearance, Acrocyanosis, Dermatochalasis, Fragile skin...	ORPHA:287
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Hypertension, Adrenal hyperplasia, Striae distensae, Increased circulating cort...	ORPHA:99889
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Recurrent sinusitis, Recurrent pneumonia, Conjunctivitis, Bronchiectasis	OMIM:601495
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Short palpebral fissure, Highly arched eyebrow, Long eyelashes, Alacrima, Cryptorchidism	OMIM:619005
Pierson Syndrome	Posterior lenticonus, Hypoplasia of the ciliary body, Hypertension, Retinal hemorrhage, Hypoplasi...	OMIM:609049
Central Retinal Vein Occlusion	Retinal neovascularization, Intraretinal hemorrhage	ORPHA:411527
Cutis Marmorata Telangiectatica Congenita	Purpura, Hypothyroidism, Cutis marmorata, Telangiectasia of the skin, Leukocoria, Subcutaneous he...	ORPHA:1556
Atelosteogenesis Type I	Abnormal pancreatic duct morphology, Telecanthus	ORPHA:1190
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal lymph node morphology	ORPHA:54251
Campomelia, Cumming Type	Pancreatic cysts, Polysplenia, Polycystic liver disease	OMIM:211890
Lyme Disease	Arthritis, Arrhythmia, Atrioventricular block, Infectious encephalitis, Uveitis	ORPHA:91546
Osteogenesis Imperfecta	Aortic regurgitation, Corneal opacity, Cutis laxa, Hyperhidrosis, Osteoarthritis, Cerebral hemorr...	ORPHA:666
Brucellosis	Pericarditis, Hyperhidrosis, Splenomegaly, Anterior uveitis, Myocarditis, Chorioretinitis, Transi...	ORPHA:1304
Gaucher Disease, Type Iiic	Opacification of the corneal stroma, Mitral stenosis, Splenomegaly	OMIM:231005
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Prolonged QT interval, Reduced circulating...	ORPHA:79443
Wilson Disease	Sunflower cataract, Jaundice, Hypoparathyroidism, Kayser-Fleischer ring, Atypical or prolonged he...	OMIM:277900
Adult-Onset Still Disease	Myocarditis, Lymphadenopathy, Pericarditis, Bone marrow hypocellularity, Splenomegaly, Proteinuri...	ORPHA:829
Neuropathy, Hereditary Sensory And Autonomic, Type V	Acral ulceration, Anhidrosis, Osteoarthritis, Septic arthritis, Osteomyelitis	OMIM:608654
Coats Disease	Retinal telangiectasia, Leukocoria	OMIM:300216
African Trypanosomiasis	Myocarditis, Congestive heart failure, Iritis, Jaundice, Myelitis, Lymphadenopathy, Alopecia, Opt...	ORPHA:3385
Yunis-Varon Syndrome	Redundant neck skin, Palmoplantar hyperkeratosis, Hypoplastic nipples, Cardiomyopathy, Sparse sca...	OMIM:216340
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Autoinflammatory Disease, Systemic, X-Linked	Panniculitis, Optic neuritis, Chorioretinitis, Hepatosplenomegaly, Cerebral hemorrhage, Anterior ...	OMIM:301081
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Desmoplastic Small Round Cell Tumor	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:83469
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Lymphadenopathy, Cardiac arrest, Nephrotic syndrome, Renal insufficiency, Tubulointe...	ORPHA:139402
H Syndrome	Enlarged kidney, Abnormal cardiovascular system physiology, Lymphadenopathy, Facial telangiectasi...	ORPHA:168569
Niemann-Pick Disease, Type A	Lymphadenopathy, Splenomegaly	OMIM:257200
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Bickerstaff Brainstem Encephalitis	Pneumonia, Mydriasis, Ptosis, Anisocoria	ORPHA:79138
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Anhidrosis, Paronychia, Episodic hyperhidrosis, Acral ulceration	OMIM:201300
Mowat-Wilson Syndrome	Recurrent otitis media, Broad eyebrow, Microcornea, Pulmonic stenosis, Ptosis, Downslanted palpeb...	OMIM:235730
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Calcium nephrolithiasis, Mediastinal lymphadenopathy, Chronic noninfectio...	ORPHA:97289
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Hepatomegaly, Periportal fibrosis, Hypertension, Portal hypertension, Splenomegaly, ...	OMIM:263200
Kilquist Syndrome	Alacrima, Xerostomia	OMIM:619080
Mevalonic Aciduria	Fluctuating splenomegaly, Lymphadenopathy, Downslanted palpebral fissures, Hepatosplenomegaly, El...	OMIM:610377
Omodysplasia 1	Popliteal pterygium, Axillary pterygium, Epicanthus, Narrow palpebral fissure, Cryptorchidism, Bl...	OMIM:258315
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Nephrotic syndrome, Nephritis, Dark urine, Proteinuria, Raynaud pheno...	ORPHA:93552
Severe Generalized Junctional Epidermolysis Bullosa	Gastrointestinal inflammation, Nail dystrophy, Pyoderma, Bradycardia, Abnormality of the nail, Fr...	ORPHA:79404
Shwachman-Diamond Syndrome 2	Prolonged prothrombin time, Hyperechogenic pancreas, Exocrine pancreatic insufficiency, Hepatomegaly	OMIM:617941
Hereditary Elliptocytosis	Skin ulcer, Jaundice, Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly	ORPHA:288
Lymphangioleiomyomatosis	Retinal hamartoma, Gastrointestinal hemorrhage, Hematuria, Lymphadenopathy, Abnormality of the ly...	ORPHA:538
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Pulmonary arterial hypertension, Asplenia, Aortic valve stenosis, Absent gallbl...	ORPHA:210122
Paroxysmal Nocturnal Hemoglobinuria	Jaundice, Conjunctival icterus, Hypertension, Budd-Chiari syndrome, Pulmonary embolism, Myocardia...	ORPHA:447
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Palmoplantar Keratoderma, Punctate Type Ia	Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Orthokeratosis	OMIM:148600
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Subretinal pigment epithelium hemorrhage, Downslanted palpebral fissures, Abnormal circulating ap...	ORPHA:357074
Neuroendocrine Tumor Of Stomach	Hematemesis, Melena, Hypotension, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy,...	ORPHA:100075
Retinoblastoma	Vitreous hemorrhage, Pinealoma	OMIM:180200
Felty Syndrome	Pericarditis, Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity	ORPHA:47612
Jacobsen Syndrome	Ectropion, Annular pancreas, Aortic valve stenosis, Ptosis, Downslanted palpebral fissures, Epica...	ORPHA:2308
Histiocytosis-Lymphadenopathy Plus Syndrome	Lymphadenopathy, Pulmonary arterial hypertension, Pulmonic stenosis, Facial telangiectasia, Downs...	OMIM:602782
Ileal Neuroendocrine Tumor	Lymphadenopathy, Hypotension, Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, H...	ORPHA:100078
Bronchial Neuroendocrine Tumor	Hypotension, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Facial telangiectasi...	ORPHA:97287
Primary Hepatic Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy, Ptosis, Facial telangiectasia, Right ventricular failure, ...	ORPHA:100085
Branchiooculofacial Syndrome	Premature graying of hair, Hypoplastic fingernail, Telecanthus, Nasolacrimal duct obstruction, Up...	OMIM:113620
Aregenerative Anemia	Bruising susceptibility, Abnormal bleeding, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:101096
Immunodeficiency 10	Nephrotic syndrome, Lymphadenopathy, Splenomegaly	OMIM:612783
Charcot-Marie-Tooth Disease Type 1E	Abnormal pupil morphology, Anisocoria	ORPHA:90658
Cockayne Syndrome Type 3	Hydroureter, Unilateral renal agenesis, Increased blood pressure, Neurogenic bladder, Cardiomyopa...	ORPHA:90324
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy	OMIM:618048
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis, Epidermal acanthosis	OMIM:610227
Immunodeficiency 97 With Autoinflammation	Lymphadenopathy, Mediastinal lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:619802
Cyclic Neutropenia	Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis	ORPHA:2686
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Mediastinal lymphadenopathy, Hilar lymph node enlargement, Tricuspid regurgitation, Pulmonary art...	OMIM:620233
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Rift Valley Fever	Hematemesis, Abnormal bleeding, Jaundice, Melena, Gingival bleeding, Retinal hemorrhage, Hepatitis	ORPHA:319251
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Lymphatic Filariasis	Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Abnormality of the lymphatic ...	ORPHA:2035
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals	OMIM:219900
Leukocyte Adhesion Deficiency, Type I	Skin ulcer, Periodontitis, Chronic mucocutaneous candidiasis, Poor wound healing, Osteomyelitis	OMIM:116920
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Generalized Pustular Psoriasis	Congestive heart failure, Cheilitis, Abnormality of the nail, Arthritis, Palmoplantar pustulosis,...	ORPHA:247353
Townes-Brocks Syndrome	Hypothyroidism, Chorioretinal coloboma, Cataract, Limbal dermoid, Cryptorchidism, Blepharophimosi...	ORPHA:857
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Antecubital pterygium, Recurrent otitis media	ORPHA:2502
Kikuchi-Fujimoto Disease	Myocarditis, Palpebral edema, Abnormal lymph node morphology, Lymphadenopathy, Vasculitis, Vascul...	ORPHA:50918
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden...	OMIM:602450
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Broad eyebrow, Downslanted palpebral fissures, Epicanthus, Cryptorchidism, Upsl...	OMIM:616975
Microphthalmia, Syndromic 6	Anterior hypopituitarism, Orbital cyst, Microcornea, Hypothyroidism, Sclerocornea, Cryptorchidism	OMIM:607932
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Subdural hemorrhage, Retinal hemorrhage, Chronic kidney disease	ORPHA:25
Facial Spasm	Anisocoria	OMIM:134300
Primary Sclerosing Cholangitis	Congestive heart failure, Jaundice, Pancreatitis, Neoplasm of the gallbladder, Cholelithiasis, Sp...	ORPHA:171
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Palmoplantar keratoderma, Epidermal acanthosis, Plantar hyperkeratosis	OMIM:615735
Stickler Syndrome	Chronic otitis media, Astigmatism, Telecanthus, Ectopia lentis, Osteoarthritis, Epicanthus, Arrhy...	ORPHA:828
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Urinary retention, Portal hypertension, Hepatosplenomegaly, Absence of lymph node germinal center...	ORPHA:79124
Oculo-Palato-Cerebral Syndrome	Cataract, Aplasia/Hypoplasia of the nails, Leukocoria	ORPHA:2714
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Igg4-Related Kidney Disease	Urethritis, Acute kidney injury, Enlarged kidney, Hematuria, Lymphadenopathy, Arteritis, Nephroti...	ORPHA:449395
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Ptosis, Antecubital pterygium, Aplasia/Hypoplasia of the nails, Epicanthus, ...	OMIM:609945
Familial Drusen	Macular hemorrhage	ORPHA:75376
Tafro Syndrome	Splenomegaly, Renal insufficiency, Lymphadenopathy, Hepatosplenomegaly	ORPHA:457077
Oculopalatocerebral Syndrome	Leukocoria	OMIM:257910
Disabling Pansclerotic Morphea Of Childhood	Skin ulcer	OMIM:620443
Neu-Laxova Syndrome 1	Pterygium, Absent eyelashes, Ablepharon, Yellow subcutaneous tissue covered by thin, scaly skin, ...	OMIM:256520
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Lymphadenopathy	OMIM:619183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma, Pallor	OMIM:253280
Kyphomelic Dysplasia	Pterygium	OMIM:211350
Q Fever	Myocarditis, Purpura, Hematuria, Lymphadenopathy, Vasculitis, Pericarditis, Hepatosplenomegaly, S...	ORPHA:781
Meckel Syndrome, Type 7	Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Aortic valve stenos...	OMIM:267010
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphadenopathy, Splenomegaly	OMIM:616100
Acute Interstitial Pneumonia	Hypertension, Lymphadenopathy	ORPHA:79126
Turner Syndrome Due To Structural X Chromosome Anomalies	Gastrointestinal inflammation, Recurrent otitis media, Prolonged QT interval, Hyperconvex fingern...	ORPHA:99413
Mosaic Monosomy X	Gastrointestinal inflammation, Recurrent otitis media, Prolonged QT interval, Hyperconvex fingern...	ORPHA:99228
Monosomy X	Gastrointestinal inflammation, Recurrent otitis media, Prolonged QT interval, Hyperconvex fingern...	ORPHA:99226
Turner Syndrome	Gastrointestinal inflammation, Recurrent otitis media, Prolonged QT interval, Hyperconvex fingern...	ORPHA:881
Spondyloepimetaphyseal Dysplasia, Krakow Type	Bruising susceptibility, Annular pancreas	OMIM:618162
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Decreased lacrimation, Adrenocorticotropic...	ORPHA:293987
Fanconi Anemia, Complementation Group D2	Bruising susceptibility, Annular pancreas, Cryptorchidism, Blepharophimosis	OMIM:227646
Autoimmune Lymphoproliferative Syndrome	Panniculitis, Recurrent aphthous stomatitis, Gastritis, Lymphadenopathy, Vasculitis, Thyroiditis,...	ORPHA:3261
Lymphoproliferative Syndrome 1	Lymphadenopathy, Splenomegaly	OMIM:613011
Hemophagocytic Lymphohistiocytosis, Familial, 2	Prolonged prothrombin time, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:603553
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Lymphadenopathy, Knee osteoarthritis, Arthritis, Uveitis, Synovitis, Enthesit...	ORPHA:85408
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Exocrine pancreatic insufficiency, Hepatic fibrosis, Pancreatic fibrosis, Hepatic s...	OMIM:616263
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Lymphadenopathy, Glomerulonephritis	OMIM:304790
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Retinal capillary hemangioma, Hyp...	OMIM:193300
Hemophagocytic Lymphohistiocytosis, Familial, 1	Prolonged prothrombin time, Lymphadenopathy, Splenomegaly	OMIM:267700
Acrofacial Dysostosis, Cincinnati Type	Recurrent otitis media, Upper eyelid coloboma, Pterygium, Bilateral cryptorchidism, Ablepharon, L...	OMIM:616462
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
Hyper-Igd Syndrome	Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Elevated urine mevalonic acid l...	OMIM:260920
Renal Cysts And Diabetes Syndrome	Hyperuricemia, Pancreatic hypoplasia, Biliary tract abnormality, Pancreatic atrophy, Exocrine pan...	OMIM:137920
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	OMIM:301078
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Hyperbilirubinemia, Macronodular cirrhosis, Exocrine pancreatic insufficiency, Panc...	OMIM:557000
Combined Immunodeficiency Due To Crac Channel Dysfunction	Lymphadenopathy, Splenomegaly	ORPHA:169090
Lethal Congenital Contracture Syndrome 9	Axillary pterygium, Antecubital pterygium	OMIM:616503
Behçet Disease	Gastrointestinal hemorrhage, Keratoconjunctivitis sicca, Aortic regurgitation, Lymphadenopathy, V...	ORPHA:117
Beckwith-Wiedemann Syndrome	Hepatomegaly, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Pseudohypoparathyroidism...	ORPHA:116
Chediak-Higashi Syndrome	Bruising susceptibility, Spontaneous, recurrent epistaxis, Splenomegaly, Lymphadenopathy	OMIM:214500
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy	OMIM:603554
Gamma-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100026
Von Hippel-Lindau Disease	Myocarditis, Neoplasm of the pancreas, Adrenal pheochromocytoma, Pancreatic islet cell adenoma, H...	ORPHA:892
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Jaundice, Increased serum bile acid concentration, Cholangitis, Peri...	ORPHA:731
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Palpebral edema, Abnormal lacrimal duct morphology, Keratoconjunctiviti...	ORPHA:79078
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly	OMIM:308230
Hennekam Syndrome	Ectopic kidney, Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Epicanth...	ORPHA:2136
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas, Upslanted palpebral fissure	ORPHA:488642
Distal Deletion 12Q	Annular pancreas, Biliary atresia, Telecanthus, Unilateral cryptorchidism, Downslanted palpebral ...	ORPHA:96149
Bohring-Opitz Syndrome	Annular pancreas, Synophrys, Cholelithiasis, Bradycardia	ORPHA:97297
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hyper...	ORPHA:93111
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Acral ulceration	OMIM:256840
Familial Mediterranean Fever	Lymphadenopathy, Vasculitis, Nephrotic syndrome, Pericarditis, Nephrocalcinosis, Proteinuria, Spl...	ORPHA:342
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Lymphadenopathy	OMIM:617099
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Lymphadenopathy, Splenomegaly	ORPHA:436159
Macrophage Activation Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:158061
Systemic Mastocytosis With Associated Hematologic Neoplasm	Lymphadenopathy, Tachycardia, Hypotension, Splenomegaly, Syncope	ORPHA:98849
Pauci-Immune Glomerulonephritis	Small vessel vasculitis, Purpura, Pancreatitis, Arteritis, Crescentic glomerulonephritis, Pulmona...	ORPHA:93126
Cherubism	Lower eyelid retraction, Submandibular lymph node enlargement	OMIM:118400
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Hypertension, Chronic pancreatitis	OMIM:613159
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Pancreatic aplasia, Reduced C-peptide level, Hypoamylasemia	ORPHA:556955
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Lymphadenopathy, Accessory spleen, Splenomegaly, Epicanthus, Polysplenia	OMIM:619418
Spondyloenchondrodysplasia With Immune Dysregulation	Tubulointerstitial fibrosis, Lymphadenopathy, Purpura, Raynaud phenomenon	OMIM:607944
Common Variable Immunodeficiency	Vasculitis, Purpura, Splenomegaly, Lymphadenopathy	ORPHA:1572
Poems Syndrome	Lymphadenopathy, Splenomegaly, Pulmonary arterial hypertension	ORPHA:2905
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis	OMIM:615503
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
1P36 Deletion Syndrome	Annular pancreas, Horizontal eyebrow, Abnormal eyebrow morphology, Abnormality of the spleen, Epi...	ORPHA:1606
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Pancreatic fibrosis, Tricuspid regurgitation	OMIM:263520
Osteoporosis-Pseudoglioma Syndrome	Cataract, Iris atrophy, Absent anterior chamber of the eye	OMIM:259770
Chédiak-Higashi Syndrome	Abnormal bleeding, Lymphadenopathy, Gingival bleeding, Epistaxis, Splenomegaly, Hepatosplenomegal...	ORPHA:167
Chikungunya	Abnormal bleeding, Lymphadenopathy, Petechiae, Gingival bleeding, Epistaxis, Raynaud phenomenon, ...	ORPHA:324625
Coccidioidomycosis	Mediastinal lymphadenopathy, Lymphadenopathy, Vasculitis, Cerebral ischemia, Pericarditis, Abnorm...	ORPHA:228123
Multiple Myeloma	Acute kidney injury, Lymphadenopathy, Nephrotic syndrome, Splenomegaly, Nephropathy	ORPHA:29073
Schinzel-Giedion Syndrome	Annular pancreas, Generalized hypertrichosis, Shallow orbits, Central hypothyroidism, Alacrima, S...	ORPHA:798
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Opacification of the corneal stroma	OMIM:615287
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:233710
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Lymphadenopathy, Nephrotic syndrome, Splenomegaly, Membranous nephropathy, Tubulointerstitial nep...	ORPHA:37042
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:233690
Selective Igm Deficiency	Lymphadenitis, Lymphadenopathy, Raynaud phenomenon	ORPHA:331235
Adenocarcinoma Of The Anal Canal	Lymphadenopathy, Intestinal bleeding	ORPHA:424016
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Pulmonary insufficiency, Annular pancreas, Right-to-left shunt, Pulmonary arterial hypertension, ...	OMIM:265380
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Aplasia of the thymus	ORPHA:83471
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:306400
Familial Pancreatic Carcinoma	Hepatosplenomegaly, Lymphadenopathy	ORPHA:1333
Craniofacial Microsomia 1	Blepharophimosis, Limbal dermoid, Ptosis, Upper eyelid coloboma	OMIM:164210
Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Pyuria, Hypertension, Proteinuria, Raynaud phenomenon, Lupus nephritis	ORPHA:536
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Lip telangiectasia, Erythema nodosum, Raynaud phenomenon, ...	OMIM:613471
Generalized Arterial Calcification Of Infancy	Left ventricular systolic dysfunction, Hypophosphatemic rickets, Hypertension, Weak pulse, Transi...	ORPHA:51608
Autosomal Recessive Malignant Osteopetrosis	Bruising susceptibility, Lymphadenopathy, Splenomegaly, Pulmonary arterial hypertension	ORPHA:667
Immunodeficiency 31C	Lymphadenopathy, Splenomegaly	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	Follicular hyperplasia, Vasculitis in the skin, Splenomegaly, 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	HOM		Early adult
Eye - MPATH pathological process term hyperplasia	Awat2^em1(IMPC)Mbp	HEM		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

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Histopathology

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Human diseases caused by Awat2 mutations

Histopathology

IMPC related publications

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