Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome		200
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	200
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome		6
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis		72
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	22
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	3
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	17
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis		172
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum		172
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome		175
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	48
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	2
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		173
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	173
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome		2
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome		11
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		21
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome		21
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum		21
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia		21
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus		31
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus		167
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis		196
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome		196
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius		134
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius		134
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		43
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome		43
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome		3
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	45
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		41
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum		41
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation		231
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome		162
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		36
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome		34
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum		34
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		54
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	665
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome		7
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	67
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	32
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum		33
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum		24
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG		12
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	99
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	1
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	32
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation		39
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome		10
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome		12
HP:0007375	HP:0007375	Abnormal septum pellucidum morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	34
HP:0007375	HP:0030283	Partial absence of the septum pellucidum	1	CL E G H
HP:0007375	HP:0002389	Cavum septum pellucidum	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0007375	HP:0002389	Cavum septum pellucidum	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	1
HP:0007375	HP:0001331	Absent septum pellucidum	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent
HP:0007375	HP:0001331	Absent septum pellucidum	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	43
HP:0007375	HP:0001331	Absent septum pellucidum	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0007375	HP:0001331	Absent septum pellucidum	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	17
HP:0007375	HP:0002389	Cavum septum pellucidum	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0007375	HP:0001331	Absent septum pellucidum	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0007375	HP:0001331	Absent septum pellucidum	1	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome		200
HP:0007375	HP:0001331	Absent septum pellucidum	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0007375	HP:0001331	Absent septum pellucidum	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0007375	HP:0001331	Absent septum pellucidum	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	193
HP:0007375	HP:0001331	Absent septum pellucidum	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0007375	HP:0001331	Absent septum pellucidum	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0007375	HP:0001331	Absent septum pellucidum	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0007375	HP:0002389	Cavum septum pellucidum	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0007375	HP:0001331	Absent septum pellucidum	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0007375	HP:0001331	Absent septum pellucidum	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0007375	HP:0001331	Absent septum pellucidum	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0007375	HP:0002389	Cavum septum pellucidum	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0007375	HP:0001331	Absent septum pellucidum	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0007375	HP:0001331	Absent septum pellucidum	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	108
HP:0007375	HP:0001331	Absent septum pellucidum	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040281 - Very frequent	72
HP:0007375	HP:0001331	Absent septum pellucidum	1	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0007375	HP:0001331	Absent septum pellucidum	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0007375	HP:0001331	Absent septum pellucidum	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0007375	HP:0001331	Absent septum pellucidum	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0007375	HP:0001331	Absent septum pellucidum	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	172
HP:0007375	HP:0001331	Absent septum pellucidum	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	172
HP:0007375	HP:0001331	Absent septum pellucidum	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0007375	HP:0001331	Absent septum pellucidum	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040282 - Frequent	175
HP:0007375	HP:0001331	Absent septum pellucidum	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0007375	HP:0002389	Cavum septum pellucidum	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0007375	HP:0001331	Absent septum pellucidum	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	157
HP:0007375	HP:0001331	Absent septum pellucidum	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	184
HP:0007375	HP:0001331	Absent septum pellucidum	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare
HP:0007375	HP:0001331	Absent septum pellucidum	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	173
HP:0007375	HP:0001331	Absent septum pellucidum	1	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome		2
HP:0007375	HP:0001331	Absent septum pellucidum	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0007375	HP:0001331	Absent septum pellucidum	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0007375	HP:0001331	Absent septum pellucidum	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	21
HP:0007375	HP:0001331	Absent septum pellucidum	1	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome		21
HP:0007375	HP:0001331	Absent septum pellucidum	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	21
HP:0007375	HP:0001331	Absent septum pellucidum	1	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia	.	21
HP:0007375	HP:0001331	Absent septum pellucidum	1	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent	31
HP:0007375	HP:0001331	Absent septum pellucidum	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0007375	HP:0001331	Absent septum pellucidum	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0007375	HP:0001331	Absent septum pellucidum	1	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent	167
HP:0007375	HP:0001331	Absent septum pellucidum	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	196
HP:0007375	HP:0001331	Absent septum pellucidum	1	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040281 - Very frequent	196
HP:0007375	HP:0001331	Absent septum pellucidum	1	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius	.	134
HP:0007375	HP:0001331	Absent septum pellucidum	1	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius	HP:0040283 - Occasional	134
HP:0007375	HP:0001331	Absent septum pellucidum	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	136
HP:0007375	HP:0001331	Absent septum pellucidum	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0007375	HP:0002389	Cavum septum pellucidum	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0007375	HP:0001331	Absent septum pellucidum	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	43
HP:0007375	HP:0001331	Absent septum pellucidum	1	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome		43
HP:0007375	HP:0002389	Cavum septum pellucidum	1	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0007375	HP:0002389	Cavum septum pellucidum	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0007375	HP:0002389	Cavum septum pellucidum	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0007375	HP:0001331	Absent septum pellucidum	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0007375	HP:0002389	Cavum septum pellucidum	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0007375	HP:0001331	Absent septum pellucidum	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0007375	HP:0002389	Cavum septum pellucidum	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0007375	HP:0001331	Absent septum pellucidum	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0007375	HP:0001331	Absent septum pellucidum	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0007375	HP:0001331	Absent septum pellucidum	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0007375	HP:0002389	Cavum septum pellucidum	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0007375	HP:0002389	Cavum septum pellucidum	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	544
HP:0007375	HP:0002389	Cavum septum pellucidum	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0007375	HP:0002389	Cavum septum pellucidum	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0007375	HP:0001331	Absent septum pellucidum	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0007375	HP:0001331	Absent septum pellucidum	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	41
HP:0007375	HP:0001331	Absent septum pellucidum	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	41
HP:0007375	HP:0002389	Cavum septum pellucidum	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0007375	HP:0002389	Cavum septum pellucidum	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0007375	HP:0002389	Cavum septum pellucidum	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent	231
HP:0007375	HP:0002389	Cavum septum pellucidum	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0007375	HP:0001331	Absent septum pellucidum	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional	77
HP:0007375	HP:0001331	Absent septum pellucidum	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0007375	HP:0002389	Cavum septum pellucidum	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0007375	HP:0001331	Absent septum pellucidum	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0007375	HP:0001331	Absent septum pellucidum	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	180
HP:0007375	HP:0001331	Absent septum pellucidum	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	33
HP:0007375	HP:0001331	Absent septum pellucidum	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	18
HP:0007375	HP:0001331	Absent septum pellucidum	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	213
HP:0007375	HP:0001331	Absent septum pellucidum	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	221
HP:0007375	HP:0001331	Absent septum pellucidum	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	36
HP:0007375	HP:0001331	Absent septum pellucidum	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0007375	HP:0002389	Cavum septum pellucidum	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0007375	HP:0002389	Cavum septum pellucidum	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040283 - Occasional	10
HP:0007375	HP:0001331	Absent septum pellucidum	1	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome		34
HP:0007375	HP:0001331	Absent septum pellucidum	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	34
HP:0007375	HP:0001331	Absent septum pellucidum	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	54
HP:0007375	HP:0001331	Absent septum pellucidum	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040283 - Occasional	6
HP:0007375	HP:0002389	Cavum septum pellucidum	1	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0007375	HP:0002389	Cavum septum pellucidum	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0007375	HP:0002389	Cavum septum pellucidum	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0007375	HP:0001331	Absent septum pellucidum	1	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome		7
HP:0007375	HP:0001331	Absent septum pellucidum	1	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0007375	HP:0001331	Absent septum pellucidum	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0007375	HP:0002389	Cavum septum pellucidum	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	60
HP:0007375	HP:0002389	Cavum septum pellucidum	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0007375	HP:0001331	Absent septum pellucidum	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	33
HP:0007375	HP:0001331	Absent septum pellucidum	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	24
HP:0007375	HP:0001331	Absent septum pellucidum	1	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040283 - Occasional	12
HP:0007375	HP:0001331	Absent septum pellucidum	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0007375	HP:0002389	Cavum septum pellucidum	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0007375	HP:0002389	Cavum septum pellucidum	1	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040283 - Occasional	39
HP:0007375	HP:0001331	Absent septum pellucidum	1	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome		10
HP:0007375	HP:0001331	Absent septum pellucidum	1	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome		12
HP:0007375	HP:0100842	Septo-optic dysplasia	2	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent
HP:0007375	HP:0100842	Septo-optic dysplasia	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0007375	HP:0100842	Septo-optic dysplasia	2	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	200
HP:0007375	HP:0100842	Septo-optic dysplasia	2	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	172
HP:0007375	HP:0100842	Septo-optic dysplasia	2	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare
HP:0007375	HP:0100842	Septo-optic dysplasia	2	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	173
HP:0007375	HP:0100842	Septo-optic dysplasia	2	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	2
HP:0007375	HP:0100842	Septo-optic dysplasia	2	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	21
HP:0007375	HP:0100842	Septo-optic dysplasia	2	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	21
HP:0007375	HP:0100842	Septo-optic dysplasia	2	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	21
HP:0007375	HP:0100842	Septo-optic dysplasia	2	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	43
HP:0007375	HP:0100842	Septo-optic dysplasia	2	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	43
HP:0007375	HP:0100842	Septo-optic dysplasia	2	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	41
HP:0007375	HP:0100842	Septo-optic dysplasia	2	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	41
HP:0007375	HP:0100842	Septo-optic dysplasia	2	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	36
HP:0007375	HP:0100842	Septo-optic dysplasia	2	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	34
HP:0007375	HP:0100842	Septo-optic dysplasia	2	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	34
HP:0007375	HP:0100842	Septo-optic dysplasia	2	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	54
HP:0007375	HP:0100842	Septo-optic dysplasia	2	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	7
HP:0007375	HP:0100842	Septo-optic dysplasia	2	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0007375	HP:0100842	Septo-optic dysplasia	2	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	33
HP:0007375	HP:0100842	Septo-optic dysplasia	2	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent	24
HP:0007375	HP:0100842	Septo-optic dysplasia	2	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0007375	HP:0100842	Septo-optic dysplasia	2	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	10
HP:0007375	HP:0100842	Septo-optic dysplasia	2	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent	12