| Diseases |
Alias |
|
| Holoprosencephaly 2 |
|
HPE2
|
Holoprosencephaly-2
|
|
Holoprosencephaly, Type 2
|
|
|
| Schizencephaly |
|
Familial Schizencephaly
|
Acquired Schizencephaly
|
|
SCHZC
|
Schizencephalia
|
|
|
| Solitary Median Maxillary Central Incisor |
|
SMMCI
|
Fused Incisors
|
|
Single Upper Central Incisor
|
Single Central Maxillary Incisor
|
|
Single Median Maxillary Central Incisor
|
Solitary Median Maxillary Central Incisor Syndrome
|
|
Incisors Fused
|
Incisors, Fused
|
|
|
| Semilobar Holoprosencephaly |
|
|
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Mih
|
Mih Type Hpe
|
|
Mihf
|
Mihv
|
|
Middle Interhemispheric Fusion Variant
|
Middle Interhemispheric Variant Of Holoprosencephaly
|
|
Syntelencephaly
|
|
|
| Microform Holoprosencephaly |
|
Hpe, Minor Form
|
Hpe-L
|
|
Holoprosencephaly, Minor Form
|
Holoprosencephaly-Like
|
|
Microform Hpe
|
|
|
| Lobar Holoprosencephaly |
|
|
| Septopreoptic Holoprosencephaly |
|
|
| Alobar Holoprosencephaly |
|
|
| Colobomatous Microphthalmia |
|
Anophthalmia-Microphthalmia Syndrome
|
Mac
|
|
Microphthalmia With Colobomatous Cyst
|
Microphthalmia-Anophthalmia-Coloboma Syndrome
|
|
Microphthalmia-Anophthalmia-Coloboma
|
Microphthalmia And Mental Deficiency
|
|
|
| Holoprosencephaly |
|
Holoprosencephaly Sequence
|
Hpe
|
|
Hpe - [Holoprosencephaly]
|
|
|
| Cerebral Hemisphere Lipoma |
|
Lipoma Of The Cerebral Hemisphere
|
|
|
| Corpus Callosum Lipoma |
|
Lipoma Of The Corpus Callosum
|
Lipoma Of Corpus Callosum
|
|
|
| Anencephaly |
|
Aprosencephaly
|
Anencephalus
|
|
Congenital Absence Of Brain
|
Absence Of A Large Part Of The Brain And The Skull
|
|
Anencephalia
|
Anencephalic Monster
|
|
Brain Absence
|
Brain Agenesis
|
|
Brain Aplasia
|
Absent Brain
|
|
Anencephalic
|
Congenital Absence Of Cerebrum
|
|
Congenital Hemicrania
|
Incomplete Anencephaly
|
|
|
| Holoprosencephaly 4 |
|
HPE4
|
Holoprosencephaly-4
|
|
Holoprosencephaly, Type 4
|
|
|
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
|
| Central Nervous System Lipoma |
|
|
| Holoprosencephaly 1 |
|
Arhinencephaly
|
HPE1
|
|
Cyclopia
|
Holoprosencephaly, Familial Alobar
|
|
Hpe, Familial
|
Hpec
|
|
Demyer Sequence
|
Holoprosencephaly-1
|
|
|
| Holoprosencephaly 3 |
|
HPE3
|
Hlp3
|
|
Holoprosencephaly-3
|
Holoprosencephaly, Type 3
|
|
|
| Holoprosencephaly 11 |
|
HPE11
|
Holoprosencephaly-11
|
|
Holoprosencephaly, Type 11
|
|
|
| Holoprosencephaly 6 |
|
|
| Culler-Jones Syndrome |
|
Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome
|
CJS
|
|
Pallister-Hall Syndrome 2, Formerly
|
Phs2, Formerly
|
|
Pallister-Hall Syndrome 2
|
Phs2
|
|
|
| Holoprosencephaly 7 |
|
HPE7
|
Holoprosencephaly-7
|
|
Holoprosencephaly, Type 7
|
|
|
| Patau Syndrome |
|
Trisomy 13
|
Complete Trisomy 13 Syndrome
|
|
Trisomy 13 Syndrome
|
D1 Trisomy
|
|
Patau'S Syndrome
|
Complete Trisomy 13
|
|
Chromosome 13, Trisomy 13 Complete
|
D Trisomy Syndrome
|
|
Bartholin-Patau Syndrome
|
Chromosome 13 Duplication
|
|
D1 Trisomy Syndrome
|
D>1< Trisomy Syndrome
|
|
Patau
|
Chromosome 13 Trisomy
|
|
Abnormal Autosomes 13
|
|
|
| Holoprosencephaly 8 |
|
|
| Frontonasal Dysplasia 1 |
|
Frontorhiny
|
Frontonasal Dysplasia
|
|
Fnd
|
Frontonasal Malformation
|
|
Fnm
|
Median Facial Cleft Syndrome
|
|
Midline Facial Cleft
|
FND1
|
|
Median Cleft Face Syndrome
|
Median Cleft Syndrome
|
|
Frontonasal Dysplasia Sequence
|
Median Facial Cleft
|
|
Tessier Number 0-14 And 30 Facial Cleft
|
Alx3-Related Frontonasal Dysplasia
|
|
Frontonasal Dysplasia Type 1
|
Isolated Median Cleft Face Syndrome
|
|
Doid:0081044
|
Doid:0081045
|
|
Dysplasia, Frontonasal, Type
|
|
|
| Hypopituitarism |
|
Pituitary Hypofunction
|
Pituitary Insufficiency
|
|
Pituitary Hormone Deficiency
|
Subpituitarism
|
|
Hypophyseal Dystrophy
|
Hypohypophysism
|
|
Anterior Pituitary Insufficiency
|
Deficient Secretion Of One Or More Pituitary Hormones
|
|
Hypopituitarism Syndrome
|
Pituitary Deficiency
|
|
Pituitary Failure
|
Pituitary Insufficiency Nos
|
|
Anterior Pituitary Hypofunction
|
Deficient Secretion Of All Pituitary Hormones
|
|
Hypopituitary Dwarfism
|
Hyposomatotropic Dwarfism
|
|
Hypophyseal Dwarfism
|
Hypopituitary Cachexia
|
|
Hypophyseal Short Stature
|
Panhypopituitarism Syndrome
|
|
Pituitary Cachexia
|
Juvenile Hypopituitarism
|
|
Pituitary Dwarfism
|
Pituitary Gland Hypofunction
|
|
Primary Hypopituitarism
|
Secondary Hypogonadism
|
|
Prepubertal Panhypopituitarism
|
Prepubertal Dwarfism
|
|
Postpartum Panhypopituitary Syndrome
|
Postpartum Hypopituitarism
|
|
Pituitary Short Stature
|
Pituitary Infantilism
|
|
Pituitary Hypogonadism
|
Pituitary Hypoadrenocorticism
|
|
|
| Holoprosencephaly 9 |
|
Pituitary Anomalies With Holoprosencephaly-Like Features
|
HPE9
|
|
Holoprosencephaly With Microphthalmia And First Branchial Arch Anomalies
|
Holoprosencephaly-9
|
|
Holoprosencephaly, Type 9
|
|
|
| Lateral Displacement Of Eye |
|
Lateral Displacement Of Globe
|
|
|
| Orofaciodigital Syndrome Viii |
|
Edwards Syndrome
|
Trisomy 18
|
|
Complete Trisomy 18 Syndrome
|
OFD8
|
|
Orofaciodigital Syndrome 8
|
Trisomy 18 Syndrome
|
|
Oral-Facial-Digital Syndrome With Hypoplastic Epiglottis
|
E3 Trisomy
|
|
Oral-Facial-Digital Syndrome Type 8
|
Orofaciodigital Syndrome Type 8
|
|
Ofds Viii
|
Oral-Facial-Digital Syndrome, Type Viii
|
|
Ofd Syndrome 8
|
Ofds 8
|
|
Oral Facial Digital Syndrome 8
|
Oral Facial Digital Syndrome Type 8
|
|
18 Trisomy
|
Chromosome 18 Trisomy
|
|
Trisomy 16-18
|
Trisomy E
|
|
Trisomy E Syndrome
|
Chromosome 18 Duplication
|
|
Oral-Facial-Digital Syndrome, Edwards Type
|
Orofaciodigital Syndrome, Edwards Type
|
|
Chromosome 18, Trisomy
|
Cleft Lip/Palate With Abnormal Thumbs And Microcephaly
|
|
Trisomy 18 Chromosome
|
Abnormal Autosomes 18
|
|
|
| Microphthalmia |
|
Microphthalmos
|
Isolated Anophthalmia-Microphthalmia Syndrome
|
|
Isolated Microphthalmia-Anophthalmia-Coloboma
|
Simple Microphthalmos
|
|
Clinical Anophthalmia
|
Isolated Anophthalmia - Microphthalmia
|
|
Isolated Pure Microphthalmia
|
Mac Spectrum
|
|
Microphthalmia-Anophthalmia-Coloboma Spectrum
|
Primitive Anophthalmia
|
|
Globe Of Eye Small
|
Small Eyeball
|
|
Hypoplasia Of Eye
|
Isolated Nanophthalmos
|
|
Rudimentary Eye
|
Dysplasia Of Eye
|
|
|
| Pallister-Hall Syndrome |
|
PHS
|
Hypothalamic Hamartomas
|
|
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly
|
Hypothalamic Hamartoblastoma Syndrome
|
|
Hamartoma Of The Hypothalamus
|
Pallister Hall Syndrome
|
|
Hall-Pallister Syndrome
|
Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly
|
|
Hamartoma, Hypothalamic
|
|
|
| Chromosome 18p Deletion Syndrome |
|
18p- Syndrome
|
De Grouchy Syndrome
|
|
Monosomy 18p
|
18p-
|
|
Chromosome 18p Deletion
|
|
|
| Septooptic Dysplasia |
|
Septo-Optic Dysplasia
|
De Morsier Syndrome
|
|
Growth Hormone Deficiency With Pituitary Anomalies
|
SOD
|
|
Pituitary Hormone Deficiency, Combined, 5
|
Septo-Optic Dysplasia Spectrum
|
|
Septo-Optic Dysplasia With Growth Hormone Deficiency
|
Pituitary Hormone Deficiency, Combined 5
|
|
Hypopituitarism And Septooptic 'Dysplasia'
|
GHDPA
|
|
CPHD5
|
Dysplasia, Septo-Optic
|
|
Kallmann Syndrome
|
|
|
| Aniridia 1 |
|
Aniridia
|
Congenital Aniridia
|
|
AN1
|
An
|
|
Cataract With Late-Onset Corneal Dystrophy
|
Aplasia Of Iris
|
|
Absent Iris
|
Irideremia
|
|
Aniridia Ii, Formerly
|
An2, Formerly
|
|
An2
|
Aniridia Type Ii
|
|
Aniridia, Type 1
|
An-1
|
|
Absence Of Iris
|
Agenesis Of Iris
|
|
Congenital Absence Of Iris
|
Hereditary Aniridia
|
|
Sporadic Aniridia
|
|
|
| Iris Disease |
|
|
| Polydactyly |
|
Non-Syndromic Polydactyly
|
Polydactyly, Postaxial
|
|
Postaxial Polydactyly
|
Supernumerary Digit
|
|
Extra Digits
|
Hyperdactyly
|
|
Polydactylia
|
Polydactylism
|
|
Supernumerary Digits
|
|
|
| Coloboma Of Optic Nerve |
|
Morning Glory Disc Anomaly
|
Coloboma Of Optic Disc
|
|
Morning Glory Syndrome
|
Ectasic Coloboma
|
|
Coloboma Of Optic Papilla
|
Congenital Coloboma Of The Optic Nerve
|
|
Optic Nerve Coloboma
|
Optic Nerve Head Pits, Bilateral Congenital
|
|
Volubilis Syndrome
|
COLON
|
|
Coloboma Of Optic Disc, Unspecified Eye
|
Congenital Coloboma Of Optic Disc
|
|
Optic Disk Coloboma
|
|
|
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Ccsf
|
Circumferential Skin Creases, Kunze Type
|
|
Congenital Circumferential Skin Folds
|
Kunze-Riehm Syndrome
|
|
Kunze Riehm Syndrome
|
Michelin Tire Baby Syndrome
|
|
|
| Coloboma Of Macula |
|
Coloboma
|
Congenital Ocular Coloboma
|
|
Microphthalmia, Isolated, With Coloboma
|
Agenesis Of Macula
|
|
Hereditary Macular Coloboma
|
Ocular Coloboma
|
|
Coloboma Of Eye
|
Macular Coloboma
|
|
Uveoretinal Coloboma
|
|
|
| Smith-Lemli-Opitz Syndrome |
|
SLOS
|
Rsh Syndrome
|
|
7-Dehydrocholesterol Reductase Deficiency
|
Slo Syndrome
|
|
Rutledge Lethal Multiple Congenital Anomaly Syndrome
|
Lethal Acrodysgenital Syndrome
|
|
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung
|
Smith-Opitz-Inborn Syndrome
|
|
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung
|
Smith Lemli Opitz Syndrome
|
|
Smith-Lemli-Opitz Syndrome, Type Ii
|
|
|
| Keratitis, Hereditary |
|
Keratitis
|
Autosomal Dominant Keratitis
|
|
Hereditary Keratitis
|
Dominantly Inherited Keratitis
|
|
Keratitis Hereditary
|
KERH
|
|
|
| Orofacial Cleft |
|
|
| Anterior Segment Dysgenesis |
|
Anterior Segment Developmental Anomaly
|
Anterior Segment Mesenchymal Dysgenesis
|
|
Corneal Opacification And Other Ocular Anomalies
|
Sclerocornea With Other Ocular Anomalies
|
|
Asmd
|
Asod
|
|
Anterior Segment Ocular Dysgenesis
|
Foxe3-Related Ocular Disorder
|
|
Familial Ocular Anterior Segment Mesenchymal Dysgenesis
|
Dysgenesis, Anterior Segment
|
|
Irido-Corneal Dysgenesis
|
Axenfeld-Rieger Syndrome, Type 3
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Cone-Rod Dystrophy 2 |
|
Cone-Rod Dystrophy
|
CORD2
|
|
Cone-Rod Retinal Dystrophy
|
Rcrd2
|
|
Cone-Rod Retinal Dystrophy 2
|
Crd2
|
|
Cord
|
Crd
|
|
Retinal Cone-Rod Dystrophy
|
Cone-Rod Retinal Dystrophy-2
|
|
Retinal Cone-Rod Dystrophy 2
|
Tapetoretinal Degeneration
|
|
Cone-Rod Degeneration
|
Cone Rod Dystrophy
|
|
Dystrophy, Cone-Rod
|
Dystrophy, Cone-Rod, Type 2
|
|
Retinitis Pigmentosa
|
Retinitis Pigmentosa 2
|
|
Progressive Cone-Rod Dystrophy
|
|
|
| Kallmann Syndrome |
|
Hypogonadism With Anosmia
|
Kallman'S Syndrome
|
|
Anosmic Hypogonadism
|
Anosmic Idiopathic Hypogonadotropic Hypogonadism
|
|
Hypogonadotropic Hypogonadism And Anosmia
|
Hypogonadotropic Hypogonadism-Anosmia Syndrome
|
|
Olfacto-Genital Pathological Sequence
|
Familial Hypogonadism With Anosmia
|
|
Kallman Syndrome
|
Dysplasia Olfactogenitalis Of De Morsier
|
|
Kallmann'S Syndrome
|
Congenital Hypogonadotropic Hypogonadism With Anosmia
|
|
|
| Leber Plus Disease |
|
Leber Congenital Amaurosis
|
Lca
|
|
Leber'S Amaurosis
|
Leber'S Disease
|
|
Amaurosis Congenita Of Leber
|
Amaurosis Congenita Of Leber, Type 1
|
|
Lhon Plus Disease
|
Congenital Absence Of The Rods And Cones
|
|
Congenital Retinal Blindness
|
Crb
|
|
Congenital Amaurosis Of Retinal Origin
|
Leber'S Congenital Amaurosis
|
|
Leber Congenital Amaurosis 1
|
Leber'S Congenital Tapetoretinal Degeneration
|
|
Leber'S Congenital Tapetoretinal Dysplasia
|
Lca1
|
|
Leber Congenital Amaurosis Type 1
|
Retinal Blindness, Congenital
|
|
Amaurosis, Leber Congenital
|
Dysgenesis Neuroepithelialis Retinae
|
|
Hereditary Epithelial Dysplasia Of Retina
|
Hereditary Retinal Aplasia
|
|
Heredoretinopathia Congenitalis
|
Leber Abiotrophy
|
|
Leber Congenital Tapetoretinal Degeneration
|
Lebers Congenital Amaurosis
|
|
Optic Atrophy, Hereditary, Leber
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
